Science.gov

Sample records for hypertrophyc cardiomyopathy infrequent

  1. Cardiomyopathy

    MedlinePlus

    ... or surgeries may also be used, including: A defibrillator that sends an electrical pulse to stop life- ... failure - overview Heart transplant Hypertrophic cardiomyopathy Implantable cardioverter-defibrillator Peripartum cardiomyopathy Restrictive cardiomyopathy Patient Instructions Heart failure - ...

  2. Cardiomyopathy

    MedlinePlus

    ... page from the NHLBI on Twitter. What Is Cardiomyopathy? Cardiomyopathy refers to diseases of the heart muscle. These ... many causes, signs and symptoms, and treatments. In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid. ...

  3. Cardiomyopathy

    MedlinePlus

    Cardiomyopathy is disease in which the heart muscle becomes weakened, stretched, or has another structural problem. It ... cannot pump or function well. Most people with cardiomyopathy have heart failure .

  4. Cardiomyopathy

    MedlinePlus

    ... and the most common reason for needing a heart transplant. Cardiomyopathy is so dangerous because it often goes ... damaged by ischemic cardiomyopathy, doctors may recommend a heart transplant. Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular dysplasia ( ...

  5. Cardiomyopathy

    MedlinePlus

    Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or ... tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have ...

  6. Pediatric Cardiomyopathies

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Pediatric Cardiomyopathies Updated:Oct 22,2015 Patient education material ... oxygen or high blood pressure. According to the Pediatric Cardiomyopathy Registry, one in every 100,000 children ...

  7. Atrioventricular Sequential Pacing for Hypertrophic Cardiomyopathy During Liver Transplantation.

    PubMed

    Ramos, Juan; Pai, Sher-Lu; Perry, Dana K; Blackshear, Joseph L; Aniskevich, Stephen

    2015-10-15

    Hypertrophic cardiomyopathy is a myocardial disorder that carries an increased risk of morbidity and mortality during liver transplantation. We describe the use of atrioventricular sequential pacing, placed preoperatively, to assist with intraoperative management of a patient with severe refractory hypertrophic cardiomyopathy undergoing orthotopic piggyback liver transplantation. We discuss the pathogenesis and treatment of this infrequent but serious comorbidity. PMID:26466305

  8. Mitochondrial Cardiomyopathies

    PubMed Central

    El-Hattab, Ayman W.; Scaglia, Fernando

    2016-01-01

    Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA). Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs for various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system. Because cardiac muscles are one of the high energy demanding tissues, cardiac involvement occurs in mitochondrial diseases with cardiomyopathies being one of the most frequent cardiac manifestations found in these disorders. Cardiomyopathy is estimated to occur in 20–40% of children with mitochondrial diseases. Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular non-compaction, and histiocytoid cardiomyopathies. Cardiomyopathies are frequent manifestations of mitochondrial diseases associated with defects in electron transport chain complexes subunits and their assembly factors, mitochondrial transfer RNAs, ribosomal RNAs, ribosomal proteins, translation factors, mtDNA maintenance, and coenzyme Q10 synthesis. Other mitochondrial diseases with cardiomyopathies include Barth syndrome, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich ataxia. PMID:27504452

  9. Mitochondrial Cardiomyopathies.

    PubMed

    El-Hattab, Ayman W; Scaglia, Fernando

    2016-01-01

    Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA). Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs for various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system. Because cardiac muscles are one of the high energy demanding tissues, cardiac involvement occurs in mitochondrial diseases with cardiomyopathies being one of the most frequent cardiac manifestations found in these disorders. Cardiomyopathy is estimated to occur in 20-40% of children with mitochondrial diseases. Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular non-compaction, and histiocytoid cardiomyopathies. Cardiomyopathies are frequent manifestations of mitochondrial diseases associated with defects in electron transport chain complexes subunits and their assembly factors, mitochondrial transfer RNAs, ribosomal RNAs, ribosomal proteins, translation factors, mtDNA maintenance, and coenzyme Q10 synthesis. Other mitochondrial diseases with cardiomyopathies include Barth syndrome, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich ataxia. PMID:27504452

  10. [Peripartum cardiomyopathy].

    PubMed

    Fennira, S; Demiraj, A; Khouaja, A; Boujnah, M R

    2006-10-01

    Peripartum cardiomyopathy is a rare and under recognized form of dilated cardiomyopathy, defined as a heart failure in the last month of pregnancy or in the first five months post-partum with absence of determinable cause for cardiac failure and absence of demonstrable heart disease. The incidence of peripartum cardiomyopathy ranges from 1 in 1300 to 1 in 15,000 pregnancy. Advanced maternal age, multiparity, twin births, preeclampsia and black race are known risk factors. The etiology of peripartum cardiomyopathy remains unknown but viral, autoimmune or idiopathic myocarditis are highly suggested. The clinical presentation on patients with peripartum cardiomyopathy is similar to that of patients with systolic heart failure. The treatment is based on drugs for sympyomatic control. Studies in graeter populations are need to determine the role of immunosupressive treatment. About half patients of peripartum cardiomyopathy recover. The left ventricular ejection fraction and the left ventricular end-diastolic diameter are statistically significant prognostic factors. The risk of developing peripartum cardiomyopathy in subsequent pregnancies remains high. The place of dobutamine stress test in counseling the patients who desire pregnancy must be more studied. PMID:17078264

  11. Restrictive cardiomyopathy

    MedlinePlus

    ... blood returns from the body (diastole). When the disease progresses, the heart may not pump blood strongly. The abnormal heart function can affect the lungs, liver, and other body systems. Restrictive cardiomyopathy may affect either or both of the ...

  12. Dilated cardiomyopathy

    MedlinePlus

    Hare JM. The dilated, restrictive, and infiltrative cardiomyopathies. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 9th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 68.

  13. What's Cardiomyopathy

    MedlinePlus

    ... or more chambers of the heart. Usually, the enlargement begins in one of the two lower pumping ... idiopathic hypertrophic subaortic stenosis (IHSS) and asymmetrical septal hypertrophy (ASH), non-obstructive hypertrophic cardiomyopathy (HCM) The second ...

  14. Restrictive cardiomyopathy

    MedlinePlus

    ... blood returns from the body (diastole). When the disease progresses, the heart may not pump blood strongly. The abnormal heart function can affect the lungs, liver, and other body systems. Restrictive cardiomyopathy may affect ...

  15. Diabetic cardiomyopathy

    PubMed Central

    Asghar, Omar; Al-Sunni, Ahmed; Khavandi, Kaivan; Khavandi, Ali; Withers, Sarah; Greenstein, Adam; Heagerty, Anthony M.; Malik, Rayaz A.

    2009-01-01

    Diabetic cardiomyopathy is a distinct primary disease process, independent of coronary artery disease, which leads to heart failure in diabetic patients. Epidemiological and clinical trial data have confirmed the greater incidence and prevalence of heart failure in diabetes. Novel echocardiographic and MR (magnetic resonance) techniques have enabled a more accurate means of phenotyping diabetic cardiomyopathy. Experimental models of diabetes have provided a range of novel molecular targets for this condition, but none have been substantiated in humans. Similarly, although ultrastructural pathology of the microvessels and cardiomyocytes is well described in animal models, studies in humans are small and limited to light microscopy. With regard to treatment, recent data with thiazoledinediones has generated much controversy in terms of the cardiac safety of both these and other drugs currently in use and under development. Clinical trials are urgently required to establish the efficacy of currently available agents for heart failure, as well as novel therapies in patients specifically with diabetic cardiomyopathy. PMID:19364331

  16. [Peripartum cardiomyopathy].

    PubMed

    Mouquet, Frédéric; Bouabdallaoui, Nadia

    2015-01-01

    The peripartum cardiomyopathy is a rare form of dilated cardiomyopathy resulting from alteration of angiogenesis toward the end of pregnancy. The diagnosis is based on the association of clinical heart failure and systolic dysfunction assessed by echocardiography or magnetic resonance imaging. Diagnoses to rule out are myocardial infarction, amniotic liquid embolism, myocarditis, inherited cardiomyopathy, and history of treatment by anthracycline. Risk factors are advance maternal age (>30), multiparity, twin pregnancy, African origin, obesity, preeclampsia, gestational hypertension, and prolonged tocolytic therapy. Treatment of acute phase is identical to usual treatment of acute systolic heart failure. After delivery, VKA treatment should be discussed in case of systolic function <25% because of higher risk of thrombus. A specific treatment by bromocriptine can be initiated on a case-by-case basis. Complete recovery of systolic function is observed in 50% of cases. The mortality risk is low. Subsequent pregnancy should be discouraged, especially if systolic function did not recover. PMID:26160284

  17. Cirrhotic cardiomyopathy.

    PubMed

    Milani, A; Zaccaria, R; Bombardieri, G; Gasbarrini, A; Pola, P

    2007-06-01

    Decompensated liver cirrhosis is characterized by a peripheral vasodilation with a low-resistance hyperdynamic circulation. The sustained increase of cardiac work load associated with such a condition may result in an inconstant and often subclinical series of heart abnormalities, constituting a new clinical entity known as "cirrhotic cardiomyopathy". Cirrhotic cardiomyopathy is variably associated with baseline increase in cardiac output, defective myocardial contractility and lowered systo-diastolic response to inotropic and chronotropic stimuli, down-regulated beta-adrenergic function, slight histo-morphological changes, and impaired electric "recovery" ability of ventricular myocardium. Cirrhotic cardiomyopathy is usually clinically latent or mild, likely because the peripheral vasodilation significantly reduces the left ventricle after-load, thus actually "auto-treating" the patient and masking any severe manifestation of heart failure. In cirrhotic patients, the presence of cirrhotic cardiomyopathy may become unmasked and clinically evident by certain treatment interventions that increase the effective blood volume and cardiac pre-load, including surgical or transjugular intrahepatic porto-systemic shunts, peritoneo-venous shunts (LeVeen) and orthotopic liver transplantation. Under these circumstances, an often transient overt congestive heart failure may develop, with increased cardiac output as well as right atrial, pulmonary artery and capillary wedge pressures. PMID:17383244

  18. Cirrhotic cardiomyopathy

    PubMed Central

    Ruiz-del-Árbol, Luis; Serradilla, Regina

    2015-01-01

    During the course of cirrhosis, there is a progressive deterioration of cardiac function manifested by the disappearance of the hyperdynamic circulation due to a failure in heart function with decreased cardiac output. This is due to a deterioration in inotropic and chronotropic function which takes place in parallel with a diastolic dysfunction and cardiac hypertrophy in the absence of other known cardiac disease. Other findings of this specific cardiomyopathy include impaired contractile responsiveness to stress stimuli and electrophysiological abnormalities with prolonged QT interval. The pathogenic mechanisms of cirrhotic cardiomyopathy include impairment of the b-adrenergic receptor signalling, abnormal cardiomyocyte membrane lipid composition and biophysical properties, ion channel defects and overactivity of humoral cardiodepressant factors. Cirrhotic cardiomyopathy may be difficult to determine due to the lack of a specific diagnosis test. However, an echocardiogram allows the detection of the diastolic dysfunction and the E/e′ ratio may be used in the follow-up progression of the illness. Cirrhotic cardiomyopathy plays an important role in the pathogenesis of the impairment of effective arterial blood volume and correlates with the degree of liver failure. A clinical consequence of cardiac dysfunction is an inadequate cardiac response in the setting of vascular stress that may result in renal hypoperfusion leading to renal failure. The prognosis is difficult to establish but the severity of diastolic dysfunction may be a marker of mortality risk. Treatment is non-specific and liver transplantation may normalize the cardiac function. PMID:26556983

  19. Alcoholic cardiomyopathy

    PubMed Central

    Guzzo-Merello, Gonzalo; Cobo-Marcos, Marta; Gallego-Delgado, Maria; Garcia-Pavia, Pablo

    2014-01-01

    Alcohol is the most frequently consumed toxic substance in the world. Low to moderate daily intake of alcohol has been shown to have beneficial effects on the cardiovascular system. In contrast, exposure to high levels of alcohol for a long period could lead to progressive cardiac dysfunction and heart failure. Cardiac dysfunction associated with chronic and excessive alcohol intake is a specific cardiac disease known as alcoholic cardiomyopathy (ACM). In spite of its clinical importance, data on ACM and how alcohol damages the heart are limited. In this review, we evaluate available evidence linking excessive alcohol consumption with heart failure and dilated cardiomyopathy. Additionally, we discuss the clinical presentation, prognosis and treatment of ACM. PMID:25228956

  20. Infiltrative Cardiomyopathies

    PubMed Central

    Bejar, David; Colombo, Paolo C; Latif, Farhana; Yuzefpolskaya, Melana

    2015-01-01

    Infiltrative cardiomyopathies can result from a wide spectrum of both inherited and acquired conditions with varying systemic manifestations. They portend an adverse prognosis, with only a few exceptions (ie, glycogen storage disease), where early diagnosis can result in potentially curative treatment. The extent of cardiac abnormalities varies based on the degree of infiltration and results in increased ventricular wall thickness, chamber dilatation, and disruption of the conduction system. These changes often lead to the development of heart failure, atrioventricular (AV) block, and ventricular arrhythmia. Because these diseases are relatively rare, a high degree of clinical suspicion is important for diagnosis. Electrocardiography and echocardiography are helpful, but advanced techniques including cardiac magnetic resonance (CMR) and nuclear imaging are increasingly preferred. Treatment is dependent on the etiology and extent of the disease and involves medications, device therapy, and, in some cases, organ transplantation. Cardiac amyloid is the archetype of the infiltrative cardiomyopathies and is discussed in great detail in this review. PMID:26244036

  1. Reversible Cardiomyopathies

    PubMed Central

    Patel, Harsh; Madanieh, Raef; Kosmas, Constantine E; Vatti, Satya K; Vittorio, Timothy J

    2015-01-01

    Cardiomyopathies (CMs) have many etiological factors that can result in severe structural and functional dysregulation. Fortunately, there are several potentially reversible CMs that are known to improve when the root etiological factor is addressed. In this article, we discuss several of these reversible CMs, including tachycardia-induced, peripartum, inflammatory, hyperthyroidism, Takotsubo, and chronic illness–induced CMs. Our discussion also includes a review on their respective pathophysiology, as well as possible management solutions. PMID:26052233

  2. SNTEMP (In)frequently asked questions

    USGS Publications Warehouse

    Bartholow, J.M.

    2000-01-01

    Here, you will find a series of questions and answers resulting from many years of technical assistance with SNTEMP and SSTEMP. These (in)frequently asked questions are presented here so that you may get a feel for the range of questions posed, learn from the questions and their 'answers,' and share in the discussions if you wish. I certainly didn't answer all the questions, nor do I feel like I've got the only answer for them all.

  3. Peripartum cardiomyopathy.

    PubMed

    Okeke, Tc; Ezenyeaku, Cct; Ikeako, Lc

    2013-07-01

    Peripartum cardiomyopathy (PPCM) is a rare form of unexplained cardiac failure of unknown origin, unique to the pregnant woman with highly variable outcome associated with high morbidity and mortality. PPCM is fraught with controversies in its definition, epidemiology, pathophysiology, diagnosis and management. PPCM is frequently under diagnosed, inadequately treated and without a laid down follow-up regimen, thus, the aim of this review. Publications on PPCM were accessed using Medline, Google scholar and Pubmed databases. Relevant materials on PPCM, selected references from internet services, journals, textbooks, and lecture notes on PPCM were also accessed and critically reviewed. PPCM is multifactorial in origin. It is a diagnosis of exclusion and should be based on classic echocardiographic criteria. The outcome of PPCM is also highly variable with high morbidity and mortality rates. Future pregnancies are not recommended in women with persistent ventricular dysfunction because the heart cannot tolerate increased cardiovascular workload associated with the pregnancy. Although, multiparity is associated with PPCM, there is an increased risk of fetal prematurity and fetal loss. PPCM is a rare form of dilated cardiomyopathy of unknown origin, unique to pregnant women. The pathophysiology is poorly understood. Echocardiography is central to diagnosis of PPCM and effective treatment monitoring in patients of PPCM. The outcome is highly variable and related to reversal of ventricular dysfunction. PMID:24116305

  4. Arrhythmogenic cardiomyopathy.

    PubMed

    Pilichou, Kalliopi; Thiene, Gaetano; Bauce, Barbara; Rigato, Ilaria; Lazzarini, Elisabetta; Migliore, Federico; Perazzolo Marra, Martina; Rizzo, Stefania; Zorzi, Alessandro; Daliento, Luciano; Corrado, Domenico; Basso, Cristina

    2016-01-01

    Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is listed among rare diseases. A familial background consistent with an autosomal-dominant trait of inheritance is present in most of AC patients; recessive variants have also been reported, either or not associated with palmoplantar keratoderma and woolly hair. AC-causing genes mostly encode major components of the cardiac desmosome and up to 50% of AC probands harbor mutations in one of them. Mutations in non-desmosomal genes have been also described in a minority of AC patients, predisposing to the same or an overlapping disease phenotype. Compound/digenic heterozygosity was identified in up to 25% of AC-causing desmosomal gene mutation carriers, in part explaining the phenotypic variability. Abnormal trafficking of intercellular proteins to the intercalated discs of cardiomyocytes and Wnt/beta catenin and Hippo signaling pathways have been implicated in disease pathogenesis.AC is a major cause of sudden death in the young and in athletes. The clinical picture may include a sub-clinical phase; an overt electrical disorder; and right ventricular or biventricular pump failure. Ventricular fibrillation can occur at any stage. Genotype-phenotype correlation studies led to identify biventricular and dominant left ventricular variants, thus supporting the use of the broader term AC.Since there is no "gold standard" to reach the diagnosis of AC, multiple categories of diagnostic information have been combined and the criteria recently updated, to improve diagnostic sensitivity while maintaining specificity. Among diagnostic tools, contrast enhanced cardiac magnetic resonance is playing a major role in detecting left dominant forms of AC, even preceding morpho

  5. Peripartum cardiomyopathy

    PubMed Central

    Blauwet, Lori A; Sliwa, Karen

    2011-01-01

    Peripartum cardiomyopathy (PPCM) is a potentially devastating disease that affects women during the last months of pregnancy or the first months after delivery. The aetiology and pathogenesis of this disease remain unclear, but oxidative stress and the generation of a cardiotoxic fragment of prolactin may play key roles. Diagnosing PPCM remains a challenge, as symptoms may mimic those women experience during normal pregnancy and the peripartum period. A high index of suspicion is thus necessary to make the diagnosis. Patients with PPCM have a varied clinical course, as some patients achieve full recovery while others progress to end-stage heart failure and even death. Standard heart failure treatment is indicated, although special provisions are necessary in pregnant and lactating women. Additional research into the pathophysiology of this disease, including possible genetic contributions, may lead to novel treatment strategies that can improve outcomes.

  6. Children's Cardiomyopathy Foundation

    MedlinePlus

    Search The Children's Cardiomyopathy Foundation (CCF) is a national, non-profit organization focused on pediatric cardiomyopathy, a chronic disease of the heart muscle. CCF is dedicated to accelerating the search for ...

  7. Types of Cardiomyopathy

    MedlinePlus

    ... ventricles, making it harder for the heart to pump blood. Hypertrophic cardiomyopathy also can cause stiffness of the ... Over time, the heart loses the ability to pump blood effectively. Dilated cardiomyopathy can lead to heart failure , ...

  8. Nutrition in Pediatric Cardiomyopathy

    PubMed Central

    Miller, Tracie L.; Neri, Daniela; Extein, Jason; Somarriba, Gabriel; Strickman-Stein, Nancy

    2007-01-01

    Pediatric cardiomyopathies are heterogeneous groups of serious disorders of the heart muscle and are responsible for significant morbidity and mortality among children who have the disease. While enormous improvements have been made in the treatment and survival of children with congenital heart disease, parallel strides have not been made in the outcomes for cardiomyopathies. Thus, ancillary therapies, such as nutrition and nutritional interventions, that may not cure but may potentially improve cardiac function and quality of life, are imperative to consider in children with all types of cardiomyopathy. Growth failure is one of the most significant clinical problems of children with cardiomyopathy with nearly one-third of children with this disorder manifesting some degree of growth failure during the course of their illness. Optimal intake of macronutrients can help improve cardiac function. In addition, several specific nutrients have been shown to correct myocardial abnormalities that often occur with cardiomyopathy and heart failure. In particular, antioxidants that can protect against free radical damage that often occurs in heart failure and nutrients that augment myocardial energy production are important therapies that have been explored more in adults with cardiomyopathy than in the pediatric population. Future research directions should pay particular attention to the effect of overall nutrition and specific nutritional therapies on clinical outcomes and quality of life in children with pediatric cardiomyopathy. PMID:18159216

  9. Rapidly Progressing Chagas Cardiomyopathy.

    PubMed

    Hollowed, John; McCullough, Matthew; Sanchez, Daniel; Traina, Mahmoud; Hernandez, Salvador; Murillo, Efrain

    2016-04-01

    Chagas disease, caused by the parasiteTrypanosoma cruzi, can cause a potentially life-threatening cardiomyopathy in approximately 10-40% of afflicted individuals. The decline in cardiac function characteristically progresses over the course of many years. We report a case of Chagas disease in which the patient experienced an atypical rapid deterioration to severe cardiomyopathy over the course of 16 months. This case argues the need for increased routine surveillance for patients with confirmedT. cruziinfection, who are determined to be at high-risk for worsening cardiomyopathy. PMID:26856912

  10. How Is Cardiomyopathy Treated?

    MedlinePlus

    ... arrest Stopping the disease from getting worse Heart-Healthy Lifestyle Changes Your doctor may suggest lifestyle changes to manage a condition that’s causing your cardiomyopathy including: Heart-healthy eating Aiming for a healthy weight Managing stress ...

  11. Sex differences in cardiomyopathies.

    PubMed

    Meyer, Sven; van der Meer, Peter; van Tintelen, J Peter; van den Berg, Maarten P

    2014-03-01

    Cardiomyopathies are a heterogeneous group of heart muscle diseases with a variety of specific phenotypes. According to the contemporary European Society of Cardiology classification, they are classified into hypertrophic (HCM), dilated (DCM), arrhythmogenic right ventricular (ARVC), restrictive (RCM), and unclassified cardiomyopathies. Each class is aetiologically further categorized into inherited (familial) and non-inherited (non-familial) forms. There is substantial evidence that biological sex is a strong modulator of the clinical manifestation of these cardiomyopathies, and sex-specific characteristics are detectable in all classes. For the clinician, it is important to know the sex-specific aspects of clinical disease expression and the potential modes of inheritance or the hereditary influences underlying the development of cardiomyopathies, since these may aid in diagnosing such diseases in both sexes. PMID:24464619

  12. [Hypertrophic cardiomyopathy. Arrhythmia in hypertrophic cardiomyopathy].

    PubMed

    Colín Lizalde, Luis de Jesús

    2003-01-01

    Hypertrophic cardiomyopathy is a relatively common genetic disorder with heterogeneity in mutations, forms of presentation, prognosis and treatment strategies. Hypertrophic cardiomyopathy is recognized as the most common cause of sudden cardiac death that occurs in young people, including athletes. The clinical diagnosis is complemented with the ecocardiographic study, in which an abnormal myocardial hypertrophy of the septum can be observed in the absence of a cardiac or systemic disease (arterial systemic hypertension, aortic stenosis). The annual sudden mortality rate is 1% and, in selected populations, it ranges between 3 and 6%. The therapeutic strategies depend on the different subsets of patients according to the morbidity and mortality, sudden cardiac death, obstructive symptoms, heart failure or atrial fibrillation and stroke. High risk patients for sudden death may effectively be treated with the automatic implantable cardioverter-defibrillator. PMID:12966640

  13. Mental Health Status of Infrequent Adolescent Substance Users

    ERIC Educational Resources Information Center

    Williams, Robert J.; Zolner, Theresa; Bertrand, Lorne D.; Davis, R. Meghan

    2004-01-01

    Frequent substance use has a strong association with poor mental health. The relationship between infrequent substance use and mental health is less clear. The present study investigated this relationship in a large group (n = 2118) of 12-19-year-olds from Alberta, Canada. Results indicated that adolescents who used tobacco or alcohol once a month…

  14. Development of an Infrequency Index for the CAARS

    ERIC Educational Resources Information Center

    Suhr, Julie A.; Buelow, Melissa; Riddle, Tara

    2011-01-01

    There is a clinical need for measurement of noncredible self-reporting of symptoms of attention deficit hyperactivity disorder (ADHD) in adults presenting for ADHD evaluation. The present study describes the development of initial validity data for an Infrequency Index for the Conner's Adult Attention Deficit/Hyperactivity Rating Scale (CII).…

  15. Dystrophin-Deficient Cardiomyopathy.

    PubMed

    Kamdar, Forum; Garry, Daniel J

    2016-05-31

    Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers. The primary presenting symptom in most dystrophinopathies is skeletal muscle weakness. However, cardiac muscle is also a subtype of striated muscle and is similarly affected in many of the muscular dystrophies. Cardiomyopathies associated with dystrophinopathies are an increasingly recognized manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Recent studies suggest that these patient populations would benefit from cardiovascular therapies, annual cardiovascular imaging studies, and close follow-up with cardiovascular specialists. Moreover, patients with DMD and BMD who develop end-stage heart failure may benefit from the use of advanced therapies. This review focuses on the pathophysiology, cardiac involvement, and treatment of cardiomyopathy in the dystrophic patient. PMID:27230049

  16. Alcoholic cardiomyopathy: Pathophysiologic insights

    PubMed Central

    Piano, Mariann R.; Phillips, Shane A.

    2014-01-01

    Alcoholic cardiomyopathy is a specific heart muscle disease found in individuals with a history of long-term heavy alcohol consumption. Alcoholic cardiomyopathy is associated with a number of adverse histological, cellular, and structural changes within the myocardium. Several mechanisms are implicated in mediating the adverse effects of ethanol, including the generation of oxidative stress, apoptotic cell death, impaired mitochondrial bioenergetics/stress, derangements in fatty acid metabolism and transport, and accelerated protein catabolism. In this review, we discuss the evidence for such mechanisms and present the potential importance of drinking patterns, genetic susceptibility, nutritional factors, race, and sex. The purpose of this review is to provide a mechanistic paradigm for future research in the area of alcoholic cardiomyopathy. PMID:24671642

  17. Heart antibodies in cardiomyopathies.

    PubMed Central

    Trueman, T; Thompson, R A; Cummins, P; Littler, W A

    1981-01-01

    The reported frequency of circulating heart reactive antibodies in cardiomyopathies has varied and their significance is unknown. In this study such antibodies were sought in patients with primary congestive and hypertrophic cardiomyopathies and other heart diseases. Standard "single sandwich" and the more sensitive "double sandwich" indirect immunofluorescence techniques failed to disclose a significant difference between any cardiomyopathic group and controls in repeated experiments. With both techniques results were subject to considerable method-specific artefacts and observer variation. No published work associating heart antibodies detected by immunofluorescence methods with cariomyopathies adequately takes these into account. PMID:7028058

  18. Cardiomyopathy Following Latrodectus Envenomation

    PubMed Central

    Levine, Michael; Canning, Josh; Chase, Robyn; Ruha, Anne-Michelle

    2010-01-01

    Latrodectus envenomations are common throughout the United States and the world. While many envenomations can result in catecholamine release with resultant hypertension and tachycardia, myocarditis is very rare. We describe a case of a 22-year-old male who sustained a Latrodectus envenomation complicated by cardiomyopathy. PMID:21293781

  19. Dispersal Mutualism Incorporated into Large-Scale, Infrequent Disturbances

    PubMed Central

    Parker, V. Thomas

    2015-01-01

    Because of their influence on succession and other community interactions, large-scale, infrequent natural disturbances also should play a major role in mutualistic interactions. Using field data and experiments, I test whether mutualisms have been incorporated into large-scale wildfire by whether the outcomes of a mutualism depend on disturbance. In this study a seed dispersal mutualism is shown to depend on infrequent, large-scale disturbances. A dominant shrubland plant (Arctostaphylos species) produces seeds that make up a persistent soil seed bank and requires fire to germinate. In post-fire stands, I show that seedlings emerging from rodent caches dominate sites experiencing higher fire intensity. Field experiments show that rodents (Perimyscus californicus, P. boylii) do cache Arctostaphylos fruit and bury most seed caches to a sufficient depth to survive a killing heat pulse that a fire might drive into the soil. While the rodent dispersal and caching behavior itself has not changed compared to other habitats, the environmental transformation caused by wildfire converts the caching burial of seed from a dispersal process to a plant fire adaptive trait, and provides the context for stimulating subsequent life history evolution in the plant host. PMID:26151560

  20. Dispersal Mutualism Incorporated into Large-Scale, Infrequent Disturbances.

    PubMed

    Parker, V Thomas

    2015-01-01

    Because of their influence on succession and other community interactions, large-scale, infrequent natural disturbances also should play a major role in mutualistic interactions. Using field data and experiments, I test whether mutualisms have been incorporated into large-scale wildfire by whether the outcomes of a mutualism depend on disturbance. In this study a seed dispersal mutualism is shown to depend on infrequent, large-scale disturbances. A dominant shrubland plant (Arctostaphylos species) produces seeds that make up a persistent soil seed bank and requires fire to germinate. In post-fire stands, I show that seedlings emerging from rodent caches dominate sites experiencing higher fire intensity. Field experiments show that rodents (Perimyscus californicus, P. boylii) do cache Arctostaphylos fruit and bury most seed caches to a sufficient depth to survive a killing heat pulse that a fire might drive into the soil. While the rodent dispersal and caching behavior itself has not changed compared to other habitats, the environmental transformation caused by wildfire converts the caching burial of seed from a dispersal process to a plant fire adaptive trait, and provides the context for stimulating subsequent life history evolution in the plant host. PMID:26151560

  1. Factors associated with frequent and infrequent HIV testing.

    PubMed

    Brown, B S; O'Grady, K E; Farrell, E V; Flechner, I S; Nurco, D N

    2001-10-01

    Drug user treatment clients with 5 or more HIV tests (frequent testees N=43) and 0-2 HIV tests (infrequent testees-N = 56) were compared on demographic characteristics, risk behaviors, perceived risk of HIV infection to self, involvement with family members, and psychological functioning. Extreme groups of HIV testees did not differ on any variables other than an index of perceived vulnerability to HIV infection (e.g., " You think that you really could get AIDS"). That measure of felt vulnerability was not correlated significantly with needle or sexual risk behaviors, family involvement, psychological functioning or other measures of perceived risk. It was reasoned that, in a community in which both dangers and protective behaviors are widely understood, frequent testees experience a generalized and heightened concern unrelated to specific behaviors or characteristics. PMID:11758815

  2. Hypertrophic Cardiomyopathy: A Review

    PubMed Central

    Houston, Brian A; Stevens, Gerin R

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both genders and of various racial and ethnic origins. Widely accepted as a monogenic disease caused by a mutation in 1 of 13 or more sarcomeric genes, HCM can present catastrophically with sudden cardiac death (SCD) or ventricular arrhythmias or insidiously with symptoms of heart failure. Given the velocity of progress in both the fields of heart failure and HCM, we present a review of the approach to patients with HCM, with particular attention to those with HCM and the clinical syndrome of heart failure. PMID:25657602

  3. Genetics of inherited cardiomyopathy

    PubMed Central

    Jacoby, Daniel; McKenna, William J.

    2012-01-01

    During the past two decades, numerous disease-causing genes for different cardiomyopathies have been identified. These discoveries have led to better understanding of disease pathogenesis and initial steps in the application of mutation analysis in the evaluation of affected individuals and their family members. As knowledge of the genetic abnormalities, and insight into cellular and organ biology has grown, so has appreciation of the level of complexity of interaction between genotype and phenotype across disease states. What were initially thought to be one-to-one gene-disease correlates have turned out to display important relational plasticity dependent in large part on the genetic and environmental backgrounds into which the genes of interest express. The current state of knowledge with regard to genetics of cardiomyopathy represents a starting point to address the biology of disease, but is not yet developed sufficiently to supplant clinically based classification systems or, in most cases, to guide therapy to any significant extent. Future work will of necessity be directed towards elucidation of the biological mechanisms of both rare and common gene variants and environmental determinants of plasticity in the genotype–phenotype relationship with the ultimate goal of furthering our ability to identify, diagnose, risk stratify, and treat this group of disorders which cause heart failure and sudden death in the young. PMID:21810862

  4. Calcium Ions in Inherited Cardiomyopathies.

    PubMed

    Deftereos, Spyridon; Papoutsidakis, Nikolaos; Giannopoulos, Georgios; Angelidis, Christos; Raisakis, Konstantinos; Bouras, Georgios; Davlouros, Periklis; Panagopoulou, Vasiliki; Goudevenos, John; Cleman, Michael W; Lekakis, John

    2016-01-01

    Inherited cardiomyopathies are a known cause of heart failure, although the pathways and mechanisms leading from mutation to the heart failure phenotype have not been elucidated. There is strong evidence that this transition is mediated, at least in part, by abnormal intracellular Ca(2+) handling, a key ion in ventricular excitation, contraction and relaxation. Studies in human myocytes, animal models and in vitro reconstituted contractile protein complexes have shown consistent correlations between Ca(2+) sensitivity and cardiomyopathy phenotype, irrespective of the causal mutation. In this review we present the available data about the connection between mutations linked to familial hypertrophic (HCM), dilated (DCM) and restrictive (RCM) cardiomyopathy, right ventricular arrhythmogenic cardiomyopathy/dysplasia (ARVC/D) as well as left ventricular non-compaction and the increase or decrease in Ca(2+) sensitivity, together with the results of attempts to reverse the manifestation of heart failure by manipulating Ca(2+) homeostasis. PMID:26411603

  5. Molecular etiology of idiopathic cardiomyopathy

    PubMed Central

    Arimura, T; Hayashi, T; Kimura, A

    2007-01-01

    Summary Idiopathic cardiomyopathy (ICM) is a primary cardiac disorder associated with abnormalities of ventricular wall thickness, size of ventricular cavity, contraction, relaxation, conduction and rhythm. Over the past two decades, molecular genetic analyses have revealed that mutations in the various genes cause ICM and such information concerning the genetic basis of ICM enables us to speculate the pathogenesis of this heterogeous cardiac disease. This review focuses on the molecular pathogenesis, i.e., genetic abnormalities and functional alterations due to the mutations especially in sarcomere/cytoskeletal components, in three characteristic features of ICM, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). Understanding the functional abnormalities of the sarcomere/cytoskeletal components, in ICM, has unraveled the function of these components not only as a contractile unit but also as a pivot for transduction of biochemical signals. PMID:18646564

  6. Agents of newly recognized or infrequently encountered mycobacterial diseases.

    PubMed Central

    Wayne, L G; Sramek, H A

    1992-01-01

    This paper reviews recent information on the systematics and clinical significance of potentially pathogenic environmental mycobacteria. A short history of these mycobacteria is given. Information on species for which clinical and systematic aspects have already been well documented, i.e., Mycobacterium kansasii, M. marinum, M. scrofulaceum, M. simiae, M. szulgai, M. ulcerans, M. xenopi, and members of the M. fortuitum complex, is updated. Although the M. avium complex was extensively reviewed in earlier literature, major new systematic and clinical information is presented in some detail. Species that have received very limited prior coverage, i.e., M. asiaticum, M. haemophilum, M. malmoense, and M. shimoidei, are the main subjects of this review and are discussed in detail. The rare infections attributed to species that are normally considered nonpathogenic, i.e., M. gastri, M. gordonae, the M. terrae complex, and most of the rapidly growing mycobacteria outside of the M. fortuitum complex, are critically reviewed. Finally, suggestions are offered for practical measures that can minimize the risk of failing to isolate or misidentifying some of the more obscure potentially pathogenic environmental mycobacteria that are only infrequently recognized. PMID:1735092

  7. Normalization of left ventricular function following cardiac resynchronization therapy: left bundle branch block as a potential etiology of dilated cardiomyopathy.

    PubMed

    Fujii, Banyo; Takami, Mistuaki

    2008-06-01

    Patients with chronic heart failure (HF) not infrequently present conduction disturbances, which are most commonly exhibited as a left bundle branch block (LBBB). LBBB is associated with intraventricular conduction delay, paradoxical septal motion, and hemodynamic deterioration, indicating an impairment of left ventricular (LV) function. However, there is controversy as to whether dilated cardiomyopathy leading to HF could develop just as a result of conduction disturbances without apparent pre-existing heart disease. We report here 2 cases of patients with non-ischemic dilated cardiomyopathy and LBBB who had complete reversal of their LV dysfunction and enlargement after cardiac resynchronization therapy, which corrects the LV activation sequence. These cases might support the idea that conduction disturbances themselves can be a principal etiology in the development of dilated cardiomyopathy. PMID:18503236

  8. Genetics Home Reference: familial dilated cardiomyopathy

    MedlinePlus

    ... Related Dilated Cardiomyopathy Genetic Testing Registry (1 link) Primary dilated cardiomyopathy ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific articles on PubMed (1 link) PubMed OMIM (36 links) ...

  9. Genetics Home Reference: familial restrictive cardiomyopathy

    MedlinePlus

    ... CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 Sources for This Page Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi ... Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM. Idiopathic restrictive cardiomyopathy in children is caused ...

  10. Subaortic and midventricular obstructive hypertrophic cardiomyopathy with extreme segmental hypertrophy

    PubMed Central

    Efthimiadis, Georgios K; Giannakoulas, Georgios; Parcharidou, Despina G; Ziakas, Antonios G; Papadopoulos, Christodoulos E; Karoulas, Takis; Pliakos, Christodoulos; Parcharidis, Georgios

    2007-01-01

    Background Subaortic and midventricular hypertrophic cardiomyopathy in a patient with extreme segmental hypertrophy exceeding the usual maximum wall thickness reported in the literature is a rare phenomenon. Case Presentation A 19-year-old man with recently diagnosed hypertrophic cardiomyopathy (HCM) was referred for sudden death risk assessment. The patient had mild exertional dyspnea (New York Heart Association functional class II), but without syncope or chest pain. There was no family history of HCM or sudden death. A two dimensional echocardiogram revealed an asymmetric type of LV hypertrophy; anterior ventricular septum = 49 mm; posterior ventricular septum = 20 mm; anterolateral free wall = 12 mm; and posterior free wall = 6 mm. The patient had 2 types of obstruction; a LV outflow obstruction due to systolic anterior motion of both mitral leaflets (Doppler-estimated 38 mm Hg gradient at rest); and a midventricular obstruction (Doppler-estimated 43 mm Hg gradient), but without apical aneurysm or dyskinesia. The patient had a normal blood pressure response on exercise test and no episodes of non-sustained ventricular tachycardia in 24-h ECG recording. Cardiac MRI showed a gross late enhancement at the hypertrophied septum. Based on the extreme degree of LV hypertrophy and the myocardial hyperenhancement, an implantation of a cardioverter-defibrillator was recommended prophylactically for primary prevention of sudden death. Conclusion Midventricular HCM is an infrequent phenotype, but may be associated with an apical aneurysm and progression to systolic dysfunction (end-stage HCM). PMID:17349063

  11. Peripartum cardiomyopathy and dilated cardiomyopathy: different at heart

    PubMed Central

    Bollen, Ilse A. E.; Van Deel, Elza D.; Kuster, Diederik W. D.; Van Der Velden, Jolanda

    2015-01-01

    Peripartum cardiomyopathy (PPCM) is a severe cardiac disease occurring in the last month of pregnancy or in the first 5 months after delivery and shows many similar clinical characteristics as dilated cardiomyopathy (DCM) such as ventricle dilation and systolic dysfunction. While PPCM was believed to be DCM triggered by pregnancy, more and more studies show important differences between these diseases. While it is likely they share part of their pathogenesis such as increased oxidative stress and an impaired microvasculature, discrepancies seen in disease progression and outcome indicate there must be differences in pathogenesis as well. In this review, we compared studies in DCM and PPCM to search for overlapping and deviating disease etiology, pathogenesis and outcome in order to understand why these cardiomyopathies share similar clinical features but have different underlying pathologies. PMID:25642195

  12. Apoptosis in Anthracycline Cardiomyopathy

    PubMed Central

    Shi, Jianjian; Abdelwahid, Eltyeb; Wei, Lei

    2011-01-01

    Apoptosis is a tightly regulated physiologic process of programmed cell death that occurs in both normal and pathologic tissues. Numerous in vitro or in vivo studies have indicated that cardiomyocyte death through apoptosis and necrosis is a primary contributor to the progression of anthracycline-induced cardiomyopathy. There are now several pieces of evidence to suggest that activation of intrinsic and extrinsic apoptotic pathways contribute to anthracycline-induced apoptosis in the heart. Novel strategies were developed to address a wide variety of cardiotoxic mechanisms and apoptotic pathways by which anthracycline influences cardiac structure and function. Anthracycline-induced apoptosis provides a very valid representation of cardiotoxicity in the heart, an argument which has implications for the most appropriate animal models of damaged heart plus diverse pharmacological effects. In this review we describe various aspects of the current understanding of apoptotic cell death triggered by anthracycline. Differences in the sensitivity to anthracycline-induced apoptosis between young and adult hearts are also discussed. PMID:22212952

  13. Cardiomyopathies in children

    PubMed Central

    2013-01-01

    Cardiomyopathy (CMP) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients' families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children. PMID:23482511

  14. Pathogenesis of Arrhythmogenic Cardiomyopathy.

    PubMed

    Asimaki, Angeliki; Kleber, Andre G; Saffitz, Jeffrey E

    2015-11-01

    Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disease. It is characterized by frequent ventricular arrhythmias and increased risk of sudden cardiac death typically arising as an early manifestation before the onset of significant myocardial remodelling. Myocardial degeneration, often confined to the right ventricular free wall, with replacement by fibrofatty scar tissue, develops in many patients. ACM is a familial disease but genetic penetrance can be low and disease expression is highly variable. Inflammation might promote disease progression. It also appears that exercise increases disease penetrance and accelerates its development. More than 60% of probands harbour mutations in genes that encode desmosomal proteins, which has raised the possibility that defective cell-cell adhesion might play a role in disease pathogenesis. Recent advances have implicated changes in the canonical wingless-type mouse mammary tumour virus integration site (Wnt)/β-catenin and Hippo signalling pathways and defects in forwarding trafficking of ion channels and other proteins to the intercalated disk in cardiac myocytes. In this review we summarize the current understanding of the pathogenesis of ACM and highlight future research directions. PMID:26199027

  15. Trileaflet Mitral Valve with Three Papillary Muscles Associated with Hypertrophic Cardiomyopathy: A Novel Case.

    PubMed

    Rosanio, Salvatore; Simonsen, Cameron J; Starwalt, John; Keylani, Abdul M; Vitarelli, Antonio

    2015-09-01

    Congenital mitral valve (MV) malformations are uncommon, except for MV prolapse. Despite their infrequency, most of them are well-known and defined entities, such as congenital MV stenosis with two papillary muscles, parachute MV, supravalvular mitral ring, hypoplastic MV, isolated cleft in the anterior and/or posterior leaflets, and double-orifice MV. A trileaflet MV with three separate papillary muscles with concordant atrioventricular and ventricle-arterial connections is exceptionally rare. To the best of the authors' knowledge, it has been reported only once in association with subaortic valvular stenosis. We hereby describe a novel case associated with hypertrophic cardiomyopathy. PMID:25809503

  16. Cardiomyopathy, familial dilated

    PubMed Central

    Taylor, Matthew RG; Carniel, Elisa; Mestroni, Luisa

    2006-01-01

    Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed). In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20–48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise) and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection

  17. Current Treatment of Dilated Cardiomyopathy

    PubMed Central

    Massin, Edward K.

    1991-01-01

    Within the last decade, the treatment for patients with dilated cardiomyopathy has changed. Clinical management of these patients is aimed at controlling congestive heart failure, treating arrhythmias, preventing pulmonary and systemic emboli, and managing chest pain. The goals of treatment for patients with dilated cardiomyopathy are to make the patient feel better and live longer. To achieve this, we direct treatment to improving left ventricular function and cardiac output and controlling arrhythmias and thromboemboli. Basic treatment begins with inotropic therapy, preload reduction, and afterload reduction. For patients with symptomatic disease, we recommend diuretics, digoxin, and converting enzyme inhibitors for first-line therapy. Patients with arrhythmias may be treated by the addition of amiodarone, a pacemaker, or an automatic implantable cardioverter-defibrillator; and most such patients need to be anticoagulated. All patients need close follow-up for possible drug toxicity associated with their regimens. Heart transplantation can be considered for patients refractory to medical treatment. Although the incidence of dilated cardiomyopathy continues to increase, we are learning better ways to treat it. In the future, new drugs with fewer side effects should be available to treat, and perhaps impede, the development of dilated cardiomyopathy. (Texas Heart Institute Journal 1991;18:41-9) PMID:15227507

  18. Genetics Home Reference: dilated cardiomyopathy with ataxia syndrome

    MedlinePlus

    ... dilated cardiomyopathy with ataxia syndrome dilated cardiomyopathy with ataxia syndrome Enable Javascript to view the expand/collapse ... Open All Close All Description Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by ...

  19. Stress cardiomyopathy: yet another type of neurocardiogenic injury: 'stress cardiomyopathy'.

    PubMed

    Wybraniec, Maciej; Mizia-Stec, Katarzyna; Krzych, Lukasz

    2014-01-01

    Tako-tsubo syndrome pertains to rare acquired cardiomyopathies, characterized by left ventricular dyskinesia and symptomatology typical for acute myocardial infarction (AMI). Despite its low incidence and relatively benign course, stress cardiomyopathy should be thoroughly differentiated from AMI. The importance of tako-tsubo consists of the fact that its manifestation initially resembles AMI. Despite seemingly low incidence of tako-tsubo, acute coronary syndromes globally constitute a major epidemiological issue and both clinical entities should be accurately differentiated. Many patients present with only mild troponin release, certain extent of regional wall motion abnormalities (RWMA) and absence of hemodynamically significant coronary artery stenosis. In such instances, a careful interview aimed at preceding emotional or physical traumatic event should be undertaken. The subsequent verification of the diagnosis is based upon prompt recovery of contractile function. Although precise diagnostic criteria were formulated, symptomatology of tako-tsubo might be clinically misleading due to the possibility of concomitant coronary vasospasm, atypical pattern of RWMA and presence of non-significant coronary disease. For this reason, its exact rate might be underestimated. Stress cardiomyopathy reflects merely a single aspect of a much wider range of neurocardiogenic injury, which encompasses cardiac dysfunction associated with subarachnoid hemorrhage, intracranial hypertension and cerebral ischemia. Both psychological and physical insult to central nervous system may trigger a disastrous response of sympathetic nervous system, eventually leading to end-organ catecholamine-mediated damage. This review sought to delineate the phenomenon of tako-tsubo cardiomyopathy and deliver evidence for common pathophysiology of the broad spectrum of neurocardiogenic injury. PMID:24462197

  20. Identification of the Syrian hamster cardiomyopathy gene.

    PubMed

    Nigro, V; Okazaki, Y; Belsito, A; Piluso, G; Matsuda, Y; Politano, L; Nigro, G; Ventura, C; Abbondanza, C; Molinari, A M; Acampora, D; Nishimura, M; Hayashizaki, Y; Puca, G A

    1997-04-01

    The BIO14.6 hamster is a widely used model for autosomal recessive cardiomyopathy. These animals die prematurely from progressive myocardial necrosis and heart failure. The primary genetic defect leading to the cardiomyopathy is still unknown. Recently, a genetic linkage map localized the cardiomyopathy locus on hamster chromosome 9qa2.1-b1, excluding several candidate genes. We now demonstrate that the cardiomyopathy results from a mutation in the delta-sarcoglycan gene that maps to the disease locus. This mutation was completely coincident with the disease in backcross and F2 pedigrees. This constitutes the first animal model identified for human sarcoglycan disorders. PMID:9097966

  1. Primary Carnitine Deficiency and Cardiomyopathy

    PubMed Central

    Fu, Lijun; Huang, Meirong

    2013-01-01

    Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of mitochondrial β-oxidation resulting from defective carnitine transport and is one of the rare treatable etiologies of metabolic cardiomyopathies. Patients affected with the disease may present with acute metabolic decompensation during infancy or with severe cardiomyopathy in childhood. Early recognition of the disease and treatment with L-carnitine may be life-saving. In this review article, the pathophysiology, clinical presentation, diagnosis, treatment and prognosis of PCD are discussed, with a focus on cardiac involvements. PMID:24385988

  2. Atomoxetine-related Takotsubo Cardiomyopathy.

    PubMed

    Naguy, Ahmed; Al-Mutairi, Haya; Al-Tajali, Ali

    2016-05-01

    Many psychotropic medications target norepinephrine receptors, which can have serious cardiovascular implications, especially in the context of overdoses, polypharmacy, and high-risk populations. This article presents the case of a patient with adult attention-deficit/hyperactivity disorder who developed takotsubo cardiomyopathy subsequent to pharmacokinetic and pharmacodynamic interactions between atomoxetine, a selective norepinephrine reuptake inhibitor, and fluoxetine. Clinicians should be mindful of the potential for cardiovascular adverse effects when prescribing agents that target noradrenergic receptors. PMID:27123802

  3. Skeletal muscle involvement in cardiomyopathies.

    PubMed

    Limongelli, Giuseppe; D'Alessandro, Raffaella; Maddaloni, Valeria; Rea, Alessandra; Sarkozy, Anna; McKenna, William J

    2013-12-01

    The link between heart and skeletal muscle disorders is based on similar molecular, anatomical and clinical features, which are shared by the 'primary' cardiomyopathies and 'primary' neuromuscular disorders. There are, however, some peculiarities that are typical of cardiac and skeletal muscle disorders. Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities). In such patients, skeletal muscle weakness usually precedes the cardiomyopathy and dominates the clinical picture. Nevertheless, skeletal involvement may be subtle, and the first clinical manifestation of a neuromuscular disorder may be the occurrence of heart failure, conduction disorders or ventricular arrhythmias due to cardiomyopathy. ECG and echocardiogram, and eventually, a more detailed cardiovascular evaluation may be required to identify early cardiac involvement. Paediatric and adult cardiologists should be proactive in screening for neuromuscular and related disorders to enable diagnosis in probands and evaluation of families with a focus on the identification of those at risk of cardiac arrhythmia and emboli who may require specific prophylactic treatments, for example, pacemaker, implantable cardioverter-defibrillator and anticoagulation. PMID:24149064

  4. [Cirrhotic cardiomyopathy: a specific entity].

    PubMed

    Brondex, A; Arlès, F; Lipovac, A-S; Richecoeur, M; Bronstein, J-A

    2012-04-01

    Cirrhosis is a frequent and severe condition, which is the late stage of numerous chronic liver diseases. It is associated with major hemodynamic alterations characteristic of hyperdynamic circulation and with a series of structural, functional, electrophysiological and biological heart abnormalities termed cirrhotic cardiomyopathy. The pathogenesis of this syndrome is multifactorial. It is usually clinically latent or mild, likely because the peripheral vasodilatation significantly reduces the left ventricle afterload. However, sudden changes of hemodynamic state (vascular filling, surgical or transjugular intrahepatic porto-systemic shunts, peritoneo-venous shunts and orthotopic liver transplantation) or myocardial contractility (introduction of beta-blocker therapy) can unmask its presence, and sometimes convert latent to overt heart failure. Cirrhotic cardiomyopathy may also contribute to the pathogenesis of hepatorenal syndrome. This entity has been described recently, and its diagnostic criteria are still under debate. To date, current management recommendations are empirical, nonspecific measures. Recognition of cirrhotic cardiomyopathy depends on a high level of awareness for the presence of this syndrome, particularly in patients with advanced cirrhosis who undergo significant surgical, pharmacological or physiological stresses. PMID:22115174

  5. Troponins, intrinsic disorder, and cardiomyopathy.

    PubMed

    Na, Insung; Kong, Min J; Straight, Shelby; Pinto, Jose R; Uversky, Vladimir N

    2016-08-01

    Cardiac troponin is a dynamic complex of troponin C, troponin I, and troponin T (TnC, TnI, and TnT, respectively) found in the myocyte thin filament where it plays an essential role in cardiac muscle contraction. Mutations in troponin subunits are found in inherited cardiomyopathies, such as hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). The highly dynamic nature of human cardiac troponin and presence of numerous flexible linkers in its subunits suggest that understanding of structural and functional properties of this important complex can benefit from the consideration of the protein intrinsic disorder phenomenon. We show here that mutations causing decrease in the disorder score in TnI and TnT are significantly more abundant in HCM and DCM than mutations leading to the increase in the disorder score. Identification and annotation of intrinsically disordered regions in each of the troponin subunits conducted in this study can help in better understanding of the roles of intrinsic disorder in regulation of interactomes and posttranslational modifications of these proteins. These observations suggest that disease-causing mutations leading to a decrease in the local flexibility of troponins can trigger a whole plethora of functional changes in the heart. PMID:27074551

  6. Cardiomyopathies and the Armed Forces.

    PubMed

    Holdsworth, D A; Cox, A T; Boos, C; Hardman, R; Sharma, S

    2015-09-01

    Cardiomyopathies are a group of heterogeneous myocardial diseases that are frequently inherited and are a recognised cause of premature sudden cardiac death in young individuals. Incomplete expressions of disease and the overlap with the physiological cardiac manifestations of regular intensive exercise create diagnostic challenges in young athletes and military recruits. Early identification is important because sudden death in the absence of prodromal symptoms is a common presentation, and there are several therapeutic strategies to minimise this risk. This paper examines the classification and clinical features of cardiomyopathies with specific reference to a military population and provides a detailed account of the optimum strategy for diagnosis, indications for specialist referral and specific guidance on the occupational significance of cardiomyopathy. A 27-year-old Lance Corporal Signaller presents to his Regimental medical officer (RMO) after feeling 'light-headed' following an 8 mile unloaded run. While waiting to see the RMO, the medical sergeant records a 12-lead ECG. The ECG is reviewed by the RMO immediately prior to the consultation and shows voltage criteria for left ventricular (LV) hypertrophy and inverted T-waves in II, III, aVF and V1-V3 (Figure 1). This Lance Corporal is a unit physical training instructor and engages in >10 h of aerobic exercise per week. He is a non-smoker and does not have any significant medical history. PMID:26246349

  7. Cardiomyopathy in becker muscular dystrophy: Overview.

    PubMed

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-06-26

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed. PMID:27354892

  8. Molecular genetics and pathogenesis of cardiomyopathy.

    PubMed

    Kimura, Akinori

    2016-01-01

    Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the intrinsic factors is called as primary cardiomyopathy of which two major clinical phenotypes are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Genetic approaches have revealed the disease genes for hereditary primary cardiomyopathy and functional studies have demonstrated that characteristic functional alterations induced by the disease-associated mutations are closely related to the clinical types, such that increased and decreased Ca(2+) sensitivities of muscle contraction are associated with HCM and DCM, respectively. In addition, recent studies have suggested that mutations in the Z-disc components found in HCM and DCM may result in increased and decreased stiffness of sarcomere, respectively. Moreover, functional analysis of mutations in the other components of cardiac muscle have suggested that the altered response to metabolic stresses is associated with cardiomyopathy, further indicating the heterogeneity in the etiology and pathogenesis of cardiomyopathy. PMID:26178429

  9. Arrhythmogenic right ventricular cardiomyopathy in a weimaraner

    PubMed Central

    Eason, Bryan D.; Leach, Stacey B.; Kuroki, Keiichi

    2015-01-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) was diagnosed postmortem in a weimaraner dog. Syncope, ventricular arrhythmias, and sudden death in this patient combined with the histopathological fatty tissue infiltration affecting the right ventricular myocardium are consistent with previous reports of ARVC in non-boxer dogs. Arrhythmogenic right ventricular cardiomyopathy has not been previously reported in weimaraners. PMID:26483577

  10. Cardiomyopathy in becker muscular dystrophy: Overview

    PubMed Central

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-01-01

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed. PMID:27354892

  11. Stem Cell Therapy for Pediatric Dilated Cardiomyopathy

    PubMed Central

    Selem, Sarah M.; Kaushal, Sunjay; Hare, Joshua M.

    2014-01-01

    Dilated cardiomyopathy is a serious and life-threatening disorder in children. It is the most common form of pediatric cardiomyopathy. Therapy for this condition has varied little over the last several decades and mortality continues to be high. Currently, children with dilated cardiomyopathy are treated with pharmacological agents and mechanical support, but most require heart transplantation and survival rates are not optimal. The lack of common treatment guidelines and inadequate survival rates after transplantation necessitates more therapeutic clinical trials. Stem cell and cell-based therapies offer an innovative approach to restore cardiac structure and function towards normal, possibly reducing the need for aggressive therapies and cardiac transplantation. Mesenchymal stem cells and cardiac stem cells may be the most promising cell types for treating children with dilated cardiomyopathy. The medical community must begin a systematic investigation of the benefits of current and novel treatments such as stem cell therapies for treating pediatric dilated cardiomyopathy. PMID:23666883

  12. Cushing's Disease Presented by Reversible Dilated Cardiomyopathy.

    PubMed

    Aydoğan, Berna İmge; Gerede, Demet Menekşe; Canpolat, Asena Gökçay; Erdoğan, Murat Faik

    2015-01-01

    Introduction. Dilated cardiomyopathy is rarely reported among CS patients especially without hypertension and left ventricular hypertrophy. Materials and Methods. We hereby report a Cushing's syndrome case presenting with dilated cardiomyopathy. Results. A 48-year-old female patient was admitted to our clinic with severe proximal myopathy and dilated cardiomyopathy without ventricular hypertrophy. Cushing's disease was diagnosed and magnetic-resonance imaging of the pituitary gland revealed a microadenoma. Under diuretic and ketoconazole treatments, she underwent a successful transnasal/transsphenoidal adenomectomy procedure. Full recovery of symptoms and echocardiographic features was achieved after six months of surgery. Conclusion. Cushing's syndrome must be kept in mind as a reversible cause of dilated cardiomyopathy. Recovery of cardiomyopathy is achieved with successful surgery. PMID:26649206

  13. Cushing's Disease Presented by Reversible Dilated Cardiomyopathy

    PubMed Central

    Aydoğan, Berna İmge; Gerede, Demet Menekşe; Canpolat, Asena Gökçay; Erdoğan, Murat Faik

    2015-01-01

    Introduction. Dilated cardiomyopathy is rarely reported among CS patients especially without hypertension and left ventricular hypertrophy. Materials and Methods. We hereby report a Cushing's syndrome case presenting with dilated cardiomyopathy. Results. A 48-year-old female patient was admitted to our clinic with severe proximal myopathy and dilated cardiomyopathy without ventricular hypertrophy. Cushing's disease was diagnosed and magnetic-resonance imaging of the pituitary gland revealed a microadenoma. Under diuretic and ketoconazole treatments, she underwent a successful transnasal/transsphenoidal adenomectomy procedure. Full recovery of symptoms and echocardiographic features was achieved after six months of surgery. Conclusion. Cushing's syndrome must be kept in mind as a reversible cause of dilated cardiomyopathy. Recovery of cardiomyopathy is achieved with successful surgery. PMID:26649206

  14. Takotsubo Cardiomyopathy Associated with Severe Hypothyroidism in an Elderly Female.

    PubMed

    Brenes-Salazar, Jorge A

    2016-01-01

    Takotsubo cardiomyopathy, also known as stress cardiomyopathy, is a syndrome that affects predominantly postmenopausal women. Despite multiple described mechanisms, intense, neuroadrenergic myocardial stimulation appears to be the main trigger. Hyperthyroidism, but rarely hypothyroidism, has been described in association with Takotsubo cardiomyopathy. Herein, we present a case of stress cardiomyopathy in the setting of symptomatic hypothyroidism. PMID:27512537

  15. The Pediatric Cardiomyopathy Registry: 1995–2007

    PubMed Central

    Wilkinson, James D.; Sleeper, Lynn A.; Alvarez, Jorge A.; Bublik, Natalya; Lipshultz, Steven E.

    2008-01-01

    Cardiomyopathy is a serious disorder of the heart muscle and, although rare, it is potentially devastating in children. Funded by the National Heart Lung and Blood Institute since 1994, the Pediatric Cardiomyopathy Registry (PCMR) was designed to describe the epidemiology and clinical course of selected CMs in patients 18 years old or younger and to promote the development of etiology-specific prevention and treatment strategies. Currently, data from more than 3,000 children with cardiomyopathy have been entered in the PCMR database with annual follow-up continuing until death, heart transplant, or loss-to-follow up. Using PCMR data, the incidence of cardiomyopathy in two large regions of the United States is estimated to be 1.13 cases per 100,000 children. Only 1/3 of children had a known etiology at the time of cardiomyopathy diagnosis. Diagnosis was associated with certain patient characteristics, family history, echocardiographic findings, laboratory testing, and biopsy. Greater incidence was found in boys and infants (<1 yr) for both dilated and hypertrophic cardiomyopathy (DCM, HCM) and black race for only DCM. In DCM, prognosis is worse in older children (>1yr), heart failure (HF) at diagnosis or idiopathic etiology. For HCM, worse prognosis is associated with inborn errors of metabolism or combination of HCM and another cardiomyopathy functional type. The best outcomes were observed in children presenting at age >1 yr with idiopathic HCM. PCMR data have enabled analysis of patients with cardiomyopathy and muscular dystrophy, as well as Noonan Syndrome. Currently, collaborations with the Pediatric Heart Transplant Study group and a newly established Pediatric Cardiomyopathy Biologic Specimen Repository at Texas Children’s Hospital will continue to yield important results. The PCMR is the largest and most complete multi-center prospective data resource regarding the etiology, clinical course and outcomes for children with cardiomyopathy. PMID:19343086

  16. Imaging Phenotype vs. Genotype in Non-Hypertrophic Heritable Cardiomyopathies: Dilated Cardiomyopathy and Arrhythmogenic Right Ventricular Cardiomyopathy

    PubMed Central

    Raman, Subha V.; Basso, Cristina; Tandri, Harikrishna; Taylor, Matthew R. G.

    2011-01-01

    Advances in cardiovascular imaging increasingly afford unique insights into heritable myocardial disease. As clinical presentation of genetic cardiomyopathies may range from nonspecific symptoms to sudden cardiac death, accurate diagnosis has implications for individual patients as well as related family members. The initial consideration of genetic cardiomyopathy may occur in the imaging laboratory, where one must recognize the patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) among the many with ventricular arrhythmia referred to define myocardial substrate. Accurate diagnosis of the patient presenting with dyspnea and palpitations whose first-degree relatives have lamin A/C cardiomyopathy may warrant genetic testing1, 2 plus imaging of diastolic function and myocardial fibrosis3. As advances in cardiac imaging afford detection of subclinical structural and functional changes, the imaging specialist must be attuned to signatures of specific genetic disorders. With increased availability of both advanced imaging as well as genotyping techniques, this review seeks to provide cardiovascular imaging specialists and clinicians with the contemporary information needed for more precise diagnosis and treatment of heritable myocardial disease. A companion paper in this series covers imaging phenotype and genotype considerations in hypertrophic cardiomyopathy (HCM). This review details clinical features, imaging phenotype and current genetic understanding for two of the most common non-HCM conditions that prompt myocardial imaging - dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). While all modalities are considered herein, considerable focus is given to CMR with its unique capabilities for myocardial tissue characterization. PMID:21081743

  17. Ergotamine-Induced Takotsubo Cardiomyopathy.

    PubMed

    Ozpelit, Ebru; Ozpelit, Mehmet E; Akdeniz, Bahri; Göldeli, Özhan

    2016-01-01

    Takotsubo cardiomyopathy (TC) is a recently increasing diagnosed disease showed by transient apical or mid-apical left ventricular dysfunction. It is known as a disease of postmenopausal women, which is usually triggered by emotional or physical stress. Although the trigger is mostly endogenous, some drugs have also been reported as the cause. Published case reports of TC associated with drug usage consist of sympathomimetic drugs, inotropic agents, thyroid hormone, cocaine, and 5-fluorouracil. We present an unusual case of TC in which the possible trigger is ergotamine toxicity. PMID:25099482

  18. Inherited cardiomyopathies--Novel therapies.

    PubMed

    Leviner, Dror B; Hochhauser, Edith; Arad, Michael

    2015-11-01

    Cardiomyopathies arising due to a single gene defect represent various pathways that evoke adverse remodeling and cardiac dysfunction. While the gene therapy approach is slowly evolving and has not yet reached clinical "prime time" and gene correction approaches are applicable at the bench but not at the bedside, major advances are being made with molecular and drug therapies. This review summarizes the contemporary drugs introduced or being tested to help manage these unique disorders bearing a major impact on the quality of life and survival of the affected individuals. The restoration of the RNA reading frame facilitates the expression of partly functional protein to salvage or alleviate the disease phenotype. Chaperones are used to prevent the degradation of abnormal but still functional proteins, while other molecules are given for pathogen silencing, to prevent aggregation or to enhance clearance of protein deposits. The absence of protein may be managed by viral gene delivery or protein therapy. Enzyme replacement therapy is already a clinical reality for a series of metabolic diseases. The progress in molecular biology, based on the knowledge of the gene defect, helps generate small molecules and pharmaceuticals targeting the key events occurring in the malfunctioning element of the sick organ. Cumulatively, these tools augment the existing armamentarium of phenotype oriented symptomatic and evidence-based therapies for patients with inherited cardiomyopathies. PMID:26297672

  19. [Takotsubo cardiomyopathy: origin and variants].

    PubMed

    Aronov, D M

    2008-01-01

    This literature review is devoted to the " tako-tsubo " cardiomyopathy - rare type of cardiomyopathy characterized by transient myocardial stunning. In acute phase the disease resembles myocardial infarction. However no involvement of coronary arteries is found at angiography. Echocardiography and ventriculography reveal a- or - hypokinesia of various parts of the left ventricle. Classic (initial) variant of the disease is associated with concomitant apical akinesia and hyperkinesis of basal segments. The heart acquires a distinctive configuration with ballooning apex which resembles device used to trap octopus. The author refers to described by him 11 cases of myocardial damage with infarct-like clinic without changes of coronary arteries in healthy men younger than 35 years (D.M.Aronow, 1968, 1974). These cases occurred during severe physical stress and had in their basis hypercatecholaminemia which led to reversible myocardial damage of the myocardium which corresponded to modern concept of myocardial stunning. During exercise tests these patients had 3 times greater increase of urinal epinephrine excretion compared with 61 patients of the same age with atherosclerotic heart disease. PMID:18991836

  20. The Incremental Validity and Clinical Utility of the MMPI-2 Infrequency Posttraumatic Stress Disorder Scale

    ERIC Educational Resources Information Center

    Marshall, Margarita B.; Bagby, R. Michael

    2006-01-01

    The incremental validity and clinical utility of the recently developed Minnesota Multiphasic Personality Inventory-2 (MMPI-2) Infrequency Posttraumatic Stress Disorder Scale (Fptsd) was examined in relation to the family of MMPI-2 F scales in distinguishing feigned post-traumatic stress disorder (PTSD) from disability claimants with PTSD.…

  1. Inadequate and Infrequent Are Not Alike: ERPs to Deviant Prosodic Patterns in Spoken Sentence Comprehension

    ERIC Educational Resources Information Center

    Mietz, Anja; Toepel, Ulrike; Ischebeck, Anja; Alter, Kai

    2008-01-01

    The current study on German investigates Event-Related brain Potentials (ERPs) for the perception of sentences with intonations which are infrequent (i.e. vocatives) or inadequate in daily conversation. These ERPs are compared to the processing correlates for sentences in which the syntax-to-prosody relations are congruent and used frequently…

  2. 40 CFR 1033.535 - Adjusting emission levels to account for infrequently regenerating aftertreatment devices.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 40 Protection of Environment 34 2013-07-01 2013-07-01 false Adjusting emission levels to account for infrequently regenerating aftertreatment devices. 1033.535 Section 1033.535 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR POLLUTION CONTROLS CONTROL OF EMISSIONS...

  3. 40 CFR 1033.535 - Adjusting emission levels to account for infrequently regenerating aftertreatment devices.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 40 Protection of Environment 33 2011-07-01 2011-07-01 false Adjusting emission levels to account for infrequently regenerating aftertreatment devices. 1033.535 Section 1033.535 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR POLLUTION CONTROLS CONTROL OF EMISSIONS...

  4. 40 CFR 1033.535 - Adjusting emission levels to account for infrequently regenerating aftertreatment devices.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 40 Protection of Environment 34 2012-07-01 2012-07-01 false Adjusting emission levels to account for infrequently regenerating aftertreatment devices. 1033.535 Section 1033.535 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR POLLUTION CONTROLS CONTROL OF EMISSIONS...

  5. 40 CFR 1033.535 - Adjusting emission levels to account for infrequently regenerating aftertreatment devices.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 40 Protection of Environment 33 2014-07-01 2014-07-01 false Adjusting emission levels to account for infrequently regenerating aftertreatment devices. 1033.535 Section 1033.535 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR POLLUTION CONTROLS CONTROL OF EMISSIONS...

  6. 40 CFR 1033.535 - Adjusting emission levels to account for infrequently regenerating aftertreatment devices.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 32 2010-07-01 2010-07-01 false Adjusting emission levels to account for infrequently regenerating aftertreatment devices. 1033.535 Section 1033.535 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR POLLUTION CONTROLS CONTROL OF EMISSIONS...

  7. Evolving Approaches to Genetic Evaluation of Specific Cardiomyopathies.

    PubMed

    Teo, Loon Yee Louis; Moran, Rocio T; Tang, W H Wilson

    2015-12-01

    The understanding of the genetic basis of cardiomyopathy has expanded significantly over the past 2 decades. The increasing availability, shortening diagnostic time, and lowering costs of genetic testing have provided researchers and physicians with the opportunity to identify the underlying genetic determinants for thousands of genetic disorders, including inherited cardiomyopathies, in effort to improve patient morbidities and mortality. As such, genetic testing has advanced from basic scientific research to clinical application and has been incorporated as part of patient evaluations for suspected inherited cardiomyopathies. Genetic evaluation framework of inherited cardiomyopathies typically encompasses careful evaluation of family history, genetic counseling, clinical screening of family members, and if appropriate, molecular genetic testing. This review summarizes the genetics, current guideline recommendations, and evidence supporting the genetic evaluation framework of five hereditary forms of cardiomyopathy: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). PMID:26472190

  8. Importance of genetic evaluation and testing in pediatric cardiomyopathy.

    PubMed

    Tariq, Muhammad; Ware, Stephanie M

    2014-11-26

    Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotype-phenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children. PMID:25429328

  9. Recurrent Takotsubo Cardiomyopathy Related to Recurrent Thyrotoxicosis

    PubMed Central

    Patel, Keval; Griffing, George T.; Hauptman, Paul J.

    2016-01-01

    Takotsubo cardiomyopathy, or transient left ventricular apical ballooning syndrome, is characterized by acute left ventricular dysfunction caused by transient wall-motion abnormalities of the left ventricular apex and mid ventricle in the absence of obstructive coronary artery disease. Recurrent episodes are rare but have been reported, and several cases of takotsubo cardiomyopathy have been described in the presence of hyperthyroidism. We report the case of a 55-year-old woman who had recurrent takotsubo cardiomyopathy, documented by repeat coronary angiography and evaluations of left ventricular function, in the presence of recurrent hyperthyroidism related to Graves disease. After both episodes, the patient's left ventricular function returned to normal when her thyroid function normalized. These findings suggest a possible role of thyroid-hormone excess in the pathophysiology of some patients who have takotsubo cardiomyopathy. PMID:27127432

  10. Recurrent Takotsubo Cardiomyopathy Related to Recurrent Thyrotoxicosis.

    PubMed

    Patel, Keval; Griffing, George T; Hauptman, Paul J; Stolker, Joshua M

    2016-04-01

    Takotsubo cardiomyopathy, or transient left ventricular apical ballooning syndrome, is characterized by acute left ventricular dysfunction caused by transient wall-motion abnormalities of the left ventricular apex and mid ventricle in the absence of obstructive coronary artery disease. Recurrent episodes are rare but have been reported, and several cases of takotsubo cardiomyopathy have been described in the presence of hyperthyroidism. We report the case of a 55-year-old woman who had recurrent takotsubo cardiomyopathy, documented by repeat coronary angiography and evaluations of left ventricular function, in the presence of recurrent hyperthyroidism related to Graves disease. After both episodes, the patient's left ventricular function returned to normal when her thyroid function normalized. These findings suggest a possible role of thyroid-hormone excess in the pathophysiology of some patients who have takotsubo cardiomyopathy. PMID:27127432

  11. Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?

    PubMed

    Arbustini, Eloisa; Favalli, Valentina; Narula, Nupoor; Serio, Alessandra; Grasso, Maurizia

    2016-08-30

    Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme, and trabeculae represent a sort of individual "cardioprinting." By itself, the diagnosis of LVNC does not coincide with that of a "cardiomyopathy" because it can be observed in healthy subjects with normal LV size and function, and it can be acquired and is reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy; the paradigmatic examples are infantile tafazzinopathies. When associated with LV dilation and dysfunction, hypertrophy, or congenital heart disease, the genetic cause may overlap. The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggests cautious use of the term LVNC cardiomyopathy, which describes the morphology but not the functional profile of the cardiomyopathy. PMID:27561770

  12. Unveiling nonischemic cardiomyopathies with cardiac magnetic resonance.

    PubMed

    Aggarwal, Niti R; Peterson, Tyler J; Young, Phillip M; Araoz, Philip A; Glockner, James; Mankad, Sunil V; Williamson, Eric E

    2014-02-01

    Cardiomyopathy is defined as a heterogeneous group of myocardial disorders with mechanical or electrical dysfunction. Identification of the etiology is important for accurate diagnosis, treatment and prognosis, but continues to be challenging. The ability of cardiac MRI to non-invasively obtain 3D-images of unparalleled resolution without radiation exposure and to provide tissue characterization gives it a distinct advantage over any other diagnostic tool used for evaluation of cardiomyopathies. Cardiac MRI can accurately visualize cardiac morphology and function and also help identify myocardial edema, infiltration and fibrosis. It has emerged as an important diagnostic and prognostic tool in tertiary care centers for work up of patients with non-ischemic cardiomyopathies. This review covers the role of cardiac MRI in evaluation of nonischemic cardiomyopathies, particularly in the context of other diagnostic and prognostic imaging modalities. PMID:24417294

  13. Genetics Home Reference: familial hypertrophic cardiomyopathy

    MedlinePlus

    ... cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle . Thickening usually occurs ... also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although ...

  14. Takotsubo Cardiomyopathy: A New Perspective in Asthma

    PubMed Central

    Marmoush, Fady Y.; Barbour, Mohamad F.; Noonan, Thomas E.; Al-Qadi, Mazen O.

    2015-01-01

    Takotsubo cardiomyopathy (TCM) is an entity of reversible cardiomyopathy known for its association with physical or emotional stress and may mimic myocardial infarction. We report an exceedingly rare case of albuterol-induced TCM with moderate asthma exacerbation. An interesting association that may help in understanding the etiology of TCM in the asthmatic population. Although the prognosis of TCM is excellent, it is crucial to recognize beta agonists as a potential stressor. PMID:26246918

  15. Mechanical aberrations in hypetrophic cardiomyopathy: emerging concepts

    PubMed Central

    Ntelios, Dimitrios; Tzimagiorgis, Georgios; Efthimiadis, Georgios K.; Karvounis, Haralambos

    2015-01-01

    Hypertrophic cardiomyopathy is the most common monogenic disorder in cardiology. Despite important advances in understanding disease pathogenesis, it is not clear how flaws in individual sarcomere components are responsible for the observed phenotype. The aim of this article is to provide a brief interpretative analysis of some currently proposed pathophysiological mechanisms of hypertrophic cardiomyopathy, with a special emphasis on alterations in the cardiac mechanical properties. PMID:26347658

  16. [Lipoprotein lipase and diabetic cardiomyopathy].

    PubMed

    Liu, Xiang-Yu; Yin, Wei-Dong; Tang, Chao-Ke

    2014-02-01

    Lipoprotein lipase (LPL) hydrolyzes plasma triglyceride-rich lipoproteins into free fatty acids (FFA) to provide energy for cardiac tissue. During diabetes, cardiac energy supply is insufficient due to defected utilization of glucose. As a compensation of cardiac energy supply, FFAs are released through the hydrolysis of very low density lipoprotein (VLDL) and chylomicrons (CM) due to activation of LPL activity. In diabetic patients, activated LPL activity and elevated FFAs result in the intracellular accumulation of reactive oxygen species and lipids in myocardium and potentially induce the diabetic cardiomyopathy (DCM). The present review summarizes the regulatory mechanisms of myocardial LPL and the pathogenesis of DCM induced by LPL and provides novel therapeutic targets and pathways for DCM. PMID:24873138

  17. Stimulant-related Takotsubo cardiomyopathy.

    PubMed

    Butterfield, Mike; Riguzzi, Christine; Frenkel, Oron; Nagdev, Arun

    2015-03-01

    Takotsubo cardiomyopathy (TC) is a rare but increasingly recognized mimic of acute coronary syndrome. Patients present with angina,ST-segment changes on electrocardiogram (both elevations and depressions),and rapid rises in cardiac biomarkers. Many kinds of stressful events have been associated with TC, but only a handful of drug-related cases have previously been reported. We describe the case of a 58-year-old woman who developed TC 2 days after crack cocaine use, a diagnosis first suggested as bedside echocardiography in the emergency department.Recognition of the classic echocardiographic appearance of TC—apical hypokinesis causing “ballooning” of the left ventricle during systole—may greatly assist providers in the early identification of this condition. PMID:25308824

  18. GENETIC CAUSES OF DILATED CARDIOMYOPATHY

    PubMed Central

    Mestroni, Luisa; Brun, Francesca; Spezzacatene, Anita; Sinagra, Gianfranco; Taylor, Matthew RG

    2014-01-01

    Dilated cardiomyopathy is a disease of the myocardium characterized by left ventricular dilatation and/or dysfunction, affecting both adult and pediatric populations. Almost half of cases are genetically determined with an autosomal pattern of inheritance. Up to 40 genes have been identified affecting proteins of a wide variety of cellular structures such as the sarcomere, the nuclear envelope, the cytoskeleton, the sarcolemma and the intercellular junction. Novel gene mutations have been recently identified thanks to advances in next-generation sequencing technologies. Genetic screening is an essential tool for early diagnosis, risk assessment, prognostic stratification and, possibly, adoption of primary preventive measures in affected patients and their asymptomatic relatives. The purpose of this article is to review the genetic basis of DCM, the known genotype-phenotype correlations, the role of current genetic sequencing techniques in the discovery of novel pathogenic gene mutations and new therapeutic perspectives. PMID:25584016

  19. Subaortic membrane mimicking hypertrophic cardiomyopathy.

    PubMed

    Anderson, Mark Joseph; Arruda-Olson, Adelaide; Gersh, Bernard; Geske, Jeffrey

    2015-01-01

    A 34-year-old man was referred for progressive angina and exertional dyspnoea refractory to medical therapy, with a presumptive diagnosis of hypertrophic cardiomyopathy (HCM). Transthoracic echocardiography (TTE) revealed asymmetric septal hypertrophy without systolic anterior motion of the mitral valve leaflet and with no dynamic left ventricular outflow tract (LVOT) obstruction. However, the LVOT velocity was elevated at rest as well as with provocation, without the characteristic late peaking obstruction seen in HCM. Focused TTE to evaluate for suspected fixed obstruction demonstrated a subaortic membrane 2.2 cm below the aortic valve. Coronary CT angiography confirmed the presence of the subaortic membrane and was negative for concomitant coronary artery disease. Surgical resection of the subaortic membrane and septal myectomy resulted in significant symptomatic relief and lower LVOT velocities on postoperative TTE. This case reminds the clinician to carefully evaluate for alternative causes of LVOT obstruction, especially subaortic membrane, as a cause of symptoms mimicking HCM. PMID:26538250

  20. Takotsubo Cardiomyopathy Occurring in the Postoperative Period.

    PubMed

    Deniz, Süleyman; Bakal, Ömer; İnangil, Gökhan; Şen, Hüseyin; Özkan, Sezai

    2015-02-01

    Takotsubo cardiomyopathy simulates acute myocardial infarction, and it is characterised by reversible left ventricular failure. A case of Takotsubo cardiomyopathy diagnosed after emergency angiography performed in a patient with evidence of acute myocardial infarction in the postoperative period will be described in this report. Transurethral resection of a bladder tumour (TUR-BT) was performed in a 92-year-old male patient by the urology clinic. The patient was transferred to the post-anaesthesia care unit after the operation. An echocardiography was performed because of the sudden onset of dyspnoea, tachycardia (140-150 beats per minute, rhythm-atrial fibrillation) and ST-segment elevation on electrocardiography (ECG) at the first postoperative hour, and midapical dyskinesia was detected at the patient. An immediate angiography was performed due to suspicion of acute coronary syndrome. Patent coronary arteries and temporary aneurysmatic dilatation of the apex of the heart were revealed by angiography. As a result of these findings, the patient was diagnosed with Takotsubo cardiomyopathy by the cardiology service. The patient was discharged uneventfully following 10 days in the intensive care unit. Aneurysm of the apex of the left ventricle and normal anatomy of the coronary arteries in the angiography have diagnostic value for Takotsubo cardiomyopathy. Diuretics (furosemide) and beta-blockers (metoprolol) are commonly used for the treatment of Takotsubo cardiomyopathy. Even though Takotsubo cardiomyopathy is a rare and benign disease, it should be kept in mind in patients suspected for acute myocardial infarction in the postoperative period. PMID:27366464

  1. Takotsubo cardiomyopathy following lightning strike.

    PubMed

    Dundon, B K; Puri, R; Leong, D P; Worthley, M I

    2008-07-01

    Lightning strike is the most common environmental cause of sudden cardiac death, but may also be associated with a myriad of injuries to various organ systems. Direct myocardial injury may be manifest as electrocardiographic alterations or elevation in cardiac-specific isoenzymes; however, significant electrical cardiac trauma appears uncommon. A case is presented of severe acute cardiomyopathy in a "Takotsubo" distribution causing cardiogenic shock following lightning strike in a previously healthy 37-year-old woman. Although rarely identified in this context, Takotsubo cardiomyopathy (also known as "transient left ventricular apical ballooning syndrome") is characterised by transient cardiac dysfunction, electrocardiographic changes that may mimic acute myocardial infarction and minimal release of cardiac-specific enzymes in the absence of obstructive coronary artery disease. The condition is associated with a substantial female bias (up to 90% of cases) in reported series, and despite occasionally dramatic presentations recovery of left ventricular function is almost universal over days to weeks. In rare instances, however, the syndrome has been associated with more catastrophic complications such as papillary muscle or cardiac free wall rupture, necessitating emergency surgical intervention to preserve life. In clinical practice, non-lethal lightning strike-induced cardiac injury is frequently associated with small elevations of cardiac isoenzymes without overt clinical sequelae; however, the incidence of silent myocardial mechanical dysfunction remains unknown. Cases such as the one presented highlight the potential for serious, albeit usually transient, cardiac sequelae from lightning strike injury and remind us that our mothers' advice to remain indoors during thunderstorms is probably worth heeding. PMID:18573973

  2. Takotsubo cardiomyopathy following lightning strike.

    PubMed

    Dundon, Benjamin K; Puri, Rishi; Leong, Darryl P; Worthley, Matthew Ian

    2009-01-01

    Lightning strike is the most common environmental cause of sudden cardiac death, but it may also be associated with a myriad of injuries to various organ systems. Direct myocardial injury may be manifest as electrocardiographic alterations or elevation in cardiac-specific isoenzymes; however, significant electrical cardiac trauma appears uncommon. A case is presented of severe acute cardiomyopathy in a "Takotsubo" distribution causing cardiogenic shock following lightning strike in a previously healthy 37-year-old woman. Although rarely identified in this context, Takotsubo cardiomyopathy (also known as "transient left ventricular apical ballooning syndrome") is characterised by transient cardiac dysfunction, electrocardiographic changes that may mimic acute myocardial infarction and minimal release of cardiac-specific enzymes in the absence of obstructive coronary artery disease. The condition is associated with a substantial female bias (up to 90% of cases) in reported series, and despite occasionally dramatic presentations recovery of left ventricular function is almost universal over days to weeks. In rare instances, however, the syndrome has been associated with more catastrophic complications such as papillary muscle or cardiac free wall rupture, necessitating emergency surgical intervention to preserve life. In clinical practice, non-lethal lightning strike-induced cardiac injury is frequently associated with small elevations of cardiac isoenzymes without overt clinical sequelae; however, the incidence of silent myocardial mechanical dysfunction remains unknown. Cases such as the one presented highlight the potential for serious, albeit usually transient, cardiac sequelae from lightning strike injury and remind us that our mothers' advice to remain indoors during thunderstorms is probably worth heeding. PMID:21686980

  3. Vesicoureteral Reflux in the Child with Lazy Bladder Syndrome: The Infrequent Voider

    PubMed Central

    Grasso, Marco; Torelli, Fabrizio; Blanco, Salvatore; Fortuna, Flavio; Baruffi, Marco

    2008-01-01

    The Infrequent Voider Syndrome or Lazy Bladder Syndrome in children is characterized by a large capacity bladder, frequently associated with a significant volume of residual urine. Usually these patients arrive at medical examination with a history of recurrent urinary infections but without anomalies in the upper urinary tract. We report about a young girl affected by one-sided 2° degree vesico-ureteral reflux due to Lazy Bladder Syndrome that had never been diagnosed before. This patient has been submitted to a prompt bladder training and seems presently to have at last gained a physiological micturition after 9 months of follow-up, without actual evidence of vesicoureteral reflux. Therefore we must stress that it is prominently important considering about infrequent micturition in a paediatric case history or a large capacity bladder, possible presence of bladder dysfunction and vesicoureteral reflux too. PMID:18615185

  4. The use of radiofrequency catheter ablation to cure dilated cardiomyopathy.

    PubMed

    Schmidt, S B; Lobban, J H; Reddy, S; Hoelper, M; Palmer, D L

    1997-01-01

    Incessant supraventricular tachycardia can cause a dilated cardiomyopathy. This article discusses the case of a 55-year-old woman whose cardiomyopathy was reversed when she underwent successful radiofrequency catheter ablation of a unifocal atrial tachycardia. PMID:9197188

  5. Dilated cardiomyopathy associated with chronic overuse of an adrenaline inhaler

    PubMed Central

    Stewart, M J; Fraser, D M; Boon, N

    1992-01-01

    Endogenous catecholamines in excess are known to cause dilated cardiomyopathy. A patient presented with dilated cardiomyopathy after many years of overusing an adrenaline inhaler. Pathological features and a considerable improvement in myocardial function after withdrawal implicated the exogenous catecholamine excess in the pathogenesis of the cardiomyopathy. PMID:1389744

  6. High Frequency QRS ECG Accurately Detects Cardiomyopathy

    NASA Technical Reports Server (NTRS)

    Schlegel, Todd T.; Arenare, Brian; Poulin, Gregory; Moser, Daniel R.; Delgado, Reynolds

    2005-01-01

    High frequency (HF, 150-250 Hz) analysis over the entire QRS interval of the ECG is more sensitive than conventional ECG for detecting myocardial ischemia. However, the accuracy of HF QRS ECG for detecting cardiomyopathy is unknown. We obtained simultaneous resting conventional and HF QRS 12-lead ECGs in 66 patients with cardiomyopathy (EF = 23.2 plus or minus 6.l%, mean plus or minus SD) and in 66 age- and gender-matched healthy controls using PC-based ECG software recently developed at NASA. The single most accurate ECG parameter for detecting cardiomyopathy was an HF QRS morphological score that takes into consideration the total number and severity of reduced amplitude zones (RAZs) present plus the clustering of RAZs together in contiguous leads. This RAZ score had an area under the receiver operator curve (ROC) of 0.91, and was 88% sensitive, 82% specific and 85% accurate for identifying cardiomyopathy at optimum score cut-off of 140 points. Although conventional ECG parameters such as the QRS and QTc intervals were also significantly longer in patients than controls (P less than 0.001, BBBs excluded), these conventional parameters were less accurate (area under the ROC = 0.77 and 0.77, respectively) than HF QRS morphological parameters for identifying underlying cardiomyopathy. The total amplitude of the HF QRS complexes, as measured by summed root mean square voltages (RMSVs), also differed between patients and controls (33.8 plus or minus 11.5 vs. 41.5 plus or minus 13.6 mV, respectively, P less than 0.003), but this parameter was even less accurate in distinguishing the two groups (area under ROC = 0.67) than the HF QRS morphologic and conventional ECG parameters. Diagnostic accuracy was optimal (86%) when the RAZ score from the HF QRS ECG and the QTc interval from the conventional ECG were used simultaneously with cut-offs of greater than or equal to 40 points and greater than or equal to 445 ms, respectively. In conclusion 12-lead HF QRS ECG employing

  7. Cardiomyopathy in captive African hedgehogs (Atelerix albiventris).

    PubMed

    Raymond, J T; Garner, M M

    2000-09-01

    From 1994 to 1999, 16 captive African hedgehogs (Atelerix albiventris), from among 42 necropsy cases, were diagnosed with cardiomyopathy. The incidence of cardiomyopathy in this study population was 38%. Fourteen of 16 hedgehogs with cardiomyopathy were males and all hedgehogs were adult (>1 year old). Nine hedgehogs exhibited 1 or more of the following clinical signs before death: heart murmur, lethargy, icterus, moist rales, anorexia, dyspnea, dehydration, and weight loss. The remaining 7 hedgehogs died without premonitory clinical signs. Gross findings were cardiomegaly (6 cases), hepatomegaly (5 cases), pulmonary edema (5 cases), pulmonary congestion (4 cases), hydrothorax (3 cases), pulmonary infarct (1 case), renal infarcts (1 case), ascites (1 case), and 5 cases showed no changes. Histologic lesions were found mainly within the left ventricular myocardium and consisted primarily of myodegeneration, myonecrosis, atrophy, hypertrophy, and disarray of myofibers. All hedgehogs with cardiomyopathy had myocardial fibrosis, myocardial edema, or both. Other common histopathologic findings were acute and chronic passive congestion of the lungs, acute passive congestion of the liver, renal tubular necrosis, vascular thrombosis, splenic extramedullary hematopoiesis, and hepatic lipidosis. This is the first report of cardiomyopathy in African hedgehogs. PMID:11021439

  8. Diabetic Cardiomyopathy; Summary of 41 Years

    PubMed Central

    Canpolat, Ugur; Aydogdu, Sinan; Abboud, Hanna Emily

    2015-01-01

    Patients with diabetes have an increased risk for development of cardiomyopathy, even in the absence of well known risk factors like coronary artery disease and hypertension. Diabetic cardiomyopathy was first recognized approximately four decades ago. To date, several pathophysiological mechanisms thought to be responsible for this new entity have also been recognized. In the presence of hyperglycemia, non-enzymatic glycosylation of several proteins, reactive oxygen species formation, and fibrosis lead to impairment of cardiac contractile functions. Impaired calcium handling, increased fatty acid oxidation, and increased neurohormonal activation also contribute to this process. Demonstration of left ventricular hypertrophy, early diastolic and late systolic dysfunction by sensitive techniques, help us to diagnose diabetic cardiomyopathy. Traditional treatment of heart failure is beneficial in diabetic cardiomyopathy, but specific strategies for prevention or treatment of cardiac dysfunction in diabetic patients has not been clarified yet. In this review we will discuss clinical and experimental studies focused on pathophysiology of diabetic cardiomyopathy, and summarize diagnostic and therapeutic approaches developed towards this entity. PMID:26240579

  9. Insulin resistance and hyperinsulinaemia in diabetic cardiomyopathy

    PubMed Central

    Jia, Guanghong; DeMarco, Vincent G.; Sowers, James R.

    2016-01-01

    Insulin resistance, type 2 diabetes mellitus and associated hyperinsulinaemia can promote the development of a specific form of cardiomyopathy that is independent of coronary artery disease and hypertension. Termed diabetic cardiomyopathy, this form of cardiomyopathy is a major cause of morbidity and mortality in developed nations, and the prevalence of this condition is rising in parallel with increases in the incidence of obesity and type 2 diabetes mellitus. Of note, female patients seem to be particularly susceptible to the development of this complication of metabolic disease. The diabetic cardiomyopathy observed in insulin-resistant or hyperinsulinaemic states is characterized by impaired myocardial insulin signalling, mitochondrial dysfunction, endoplasmic reticulum stress, impaired calcium homeostasis, abnormal coronary microcirculation, activation of the sympathetic nervous system, activation of the renin–angiotensin–aldosterone system and maladaptive immune responses. These pathophysiological changes result in oxidative stress, fibrosis, hypertrophy, cardiac diastolic dysfunction and eventually systolic heart failure. This Review highlights a surge in diabetic cardiomyopathy research, summarizes current understanding of the molecular mechanisms underpinning this condition and explores potential preventive and therapeutic strategies. PMID:26678809

  10. Insulin resistance and hyperinsulinaemia in diabetic cardiomyopathy.

    PubMed

    Jia, Guanghong; DeMarco, Vincent G; Sowers, James R

    2016-03-01

    Insulin resistance, type 2 diabetes mellitus and associated hyperinsulinaemia can promote the development of a specific form of cardiomyopathy that is independent of coronary artery disease and hypertension. Termed diabetic cardiomyopathy, this form of cardiomyopathy is a major cause of morbidity and mortality in developed nations, and the prevalence of this condition is rising in parallel with increases in the incidence of obesity and type 2 diabetes mellitus. Of note, female patients seem to be particularly susceptible to the development of this complication of metabolic disease. The diabetic cardiomyopathy observed in insulin- resistant or hyperinsulinaemic states is characterized by impaired myocardial insulin signalling, mitochondrial dysfunction, endoplasmic reticulum stress, impaired calcium homeostasis, abnormal coronary microcirculation, activation of the sympathetic nervous system, activation of the renin-angiotensin-aldosterone system and maladaptive immune responses. These pathophysiological changes result in oxidative stress, fibrosis, hypertrophy, cardiac diastolic dysfunction and eventually systolic heart failure. This Review highlights a surge in diabetic cardiomyopathy research, summarizes current understanding of the molecular mechanisms underpinning this condition and explores potential preventive and therapeutic strategies. PMID:26678809

  11. Metabolic imaging of patients with cardiomyopathy

    SciTech Connect

    Geltman, E.M. )

    1991-09-01

    The cardiomyopathies comprise a diverse group of illnesses that can be characterized functionally by several techniques. However, the delineation of derangements of regional perfusion and metabolism have been accomplished only relatively recently with positron emission tomography (PET). Regional myocardial accumulation and clearance of 11C-palmitate, the primary myocardial substrate under most conditions, demonstrate marked spatial heterogeneity when studied under fasting conditions or with glucose loading. PET with 11C-palmitate permits the noninvasive differentiation of patients with nonischemic from ischemic dilated cardiomyopathy, since patients with ischemic cardiomyopathy demonstrate large zones of intensely depressed accumulation of 11C-palmitate, probably reflecting prior infarction. Patients with hypertrophic cardiomyopathy and Duchenne's muscular dystrophy demonstrate relatively unique patterns of myocardial abnormalities of perfusion and metabolism. The availability of new tracers and techniques for the evaluation of myocardial metabolism (11C-acetate), perfusion (H2(15)O), and autonomic tone (11-C-hydroxyephedrine) should facilitate further understanding of the pathogenesis of the cardiomyopathies.

  12. Inherited cardiomyopathies caused by troponin mutations

    PubMed Central

    Lu, Qun-Wei; Wu, Xiao-Yan; Morimoto, Sachio

    2013-01-01

    Genetic investigations of cardiomyopathy in the recent two decades have revealed a large number of mutations in the genes encoding sarcomeric proteins as a cause of inherited hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), or restrictive cardiomyopathy (RCM). Most functional analyses of the effects of mutations on cardiac muscle contraction have revealed significant changes in the Ca2+-regulatory mechanism, in which cardiac troponin (cTn) plays important structural and functional roles as a key regulatory protein. Over a hundred mutations have been identified in all three subunits of cTn, i.e., cardiac troponins T, I, and C. Recent studies on cTn mutations have provided plenty of evidence that HCM- and RCM-linked mutations increase cardiac myofilament Ca2+ sensitivity, while DCM-linked mutations decrease it. This review focuses on the functional consequences of mutations found in cTn in terms of cardiac myofilament Ca2+ sensitivity, ATPase activity, force generation, and cardiac troponin I phosphorylation, to understand potential molecular and cellular pathogenic mechanisms of the three types of inherited cardiomyopathy. PMID:23610579

  13. Mitochondrial Dynamics in Diabetic Cardiomyopathy

    PubMed Central

    Galloway, Chad A.

    2015-01-01

    Abstract Significance: Cardiac function is energetically demanding, reliant on efficient well-coupled mitochondria to generate adenosine triphosphate and fulfill the cardiac demand. Predictably then, mitochondrial dysfunction is associated with cardiac pathologies, often related to metabolic disease, most commonly diabetes. Diabetic cardiomyopathy (DCM), characterized by decreased left ventricular function, arises independently of coronary artery disease and atherosclerosis. Dysregulation of Ca2+ handling, metabolic changes, and oxidative stress are observed in DCM, abnormalities reflected in alterations in mitochondrial energetics. Cardiac tissue from DCM patients also presents with altered mitochondrial morphology, suggesting a possible role of mitochondrial dynamics in its pathological progression. Recent Advances: Abnormal mitochondrial morphology is associated with pathologies across diverse tissues, suggesting that this highly regulated process is essential for proper cell maintenance and physiological homeostasis. Highly structured cardiac myofibers were hypothesized to limit alterations in mitochondrial morphology; however, recent work has identified morphological changes in cardiac tissue, specifically in DCM. Critical Issues: Mitochondrial dysfunction has been reported independently from observations of altered mitochondrial morphology in DCM. The temporal relationship and causative nature between functional and morphological changes of mitochondria in the establishment/progression of DCM is unclear. Future Directions: Altered mitochondrial energetics and morphology are not only causal for but also consequential to reactive oxygen species production, hence exacerbating oxidative damage through reciprocal amplification, which is integral to the progression of DCM. Therefore, targeting mitochondria for DCM will require better mechanistic characterization of morphological distortion and bioenergetic dysfunction. Antioxid. Redox Signal. 22, 1545–1562. PMID

  14. Autonomic Findings in Takotsubo Cardiomyopathy.

    PubMed

    Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio; Martinez, Jose; Katz, Stuart D; Tully, Lisa; Reynolds, Harmony R

    2016-01-15

    Takotsubo cardiomyopathy (TC) often occurs after emotional or physical stress. Norepinephrine levels are unusually high in the acute phase, suggesting a hyperadrenergic mechanism. Comparatively little is known about parasympathetic function in patients with TC. We sought to characterize autonomic function at rest and in response to physical and emotional stimuli in 10 women with a confirmed history of TC and 10 age-matched healthy women. Sympathetic and parasympathetic activity was assessed at rest and during baroreflex stimulation (Valsalva maneuver and tilt testing), cognitive stimulation (Stroop test), and emotional stimulation (event recall, patients). Ambulatory blood pressure monitoring and measurement of brachial artery flow-mediated vasodilation were also performed. TC women (tested an average of 37 months after the event) had excessive pressor responses to cognitive stress (Stroop test: p <0.001 vs baseline and p = 0.03 vs controls) and emotional arousal (recall of TC event: p = 0.03 vs baseline). Pressor responses to hemodynamic stimuli were also amplified (Valsalva overshoot: p <0.05) and prolonged (duration: p <0.01) in the TC women compared with controls. Plasma catecholamine levels did not differ between TC women and controls. Indexes of parasympathetic (vagal) modulation of heart rate induced by respiration and cardiovagal baroreflex gain were significantly decreased in the TC women versus controls. In conclusion, even long after the initial episode, women with previous episode of TC have excessive sympathetic responsiveness and reduced parasympathetic modulation of heart rate. Impaired baroreflex control may therefore play a role in TC. PMID:26743349

  15. Metabolic Dysfunction in Diabetic Cardiomyopathy

    PubMed Central

    Isfort, Michael; Stevens, Sarah C.W.; Schaffer, Stephen; Jong, Chian Ju; Wold, Loren E.

    2013-01-01

    Diabetic cardiomyopathy (DCM) is defined as cardiac disease independent of vascular complications during diabetes. The number of new cases of DCM is rising at epidemic rates in proportion to newly diagnosed cases of diabetes mellitus (DM) throughout the world. DCM is a heart failure syndrome found in diabetic patients that is characterized by left ventricular hypertrophy and reduced diastolic function, with or without concurrent systolic dysfunction, occurring in the absence of hypertension and coronary artery disease. DCM and other diabetic complications are caused in part by elevations in blood glucose and lipids, characteristic of DM. Although there are pathological consequences to hyperglycemia and hyperlipidemia, the combination of the two metabolic abnormalities potentiates the severity of diabetic complications. A natural competition exists between glucose and fatty acid metabolism in the heart that is regulated by allosteric and feedback control and transcriptional modulation of key limiting enzymes. Inhibition of these glycolytic enzymes not only controls flux of substrate through the glycolytic pathway, but also leads to the diversion of glycolytic intermediate substrate through pathological pathways, which mediate the onset of diabetic complications. The present review describes the limiting steps involved in the development of these pathological pathways and the factors involved in the regulation of these limiting steps. Additionally, therapeutic options with demonstrated or postulated effects on DCM are described. PMID:23443849

  16. Electrocardiographic predictors of peripartum cardiomyopathy

    PubMed Central

    Karaye, Kamilu M; Karaye, Kamilu M; Lindmark, Krister; Henein, Michael Y; Lindmark, Krister; Henein, Michael Y

    2016-01-01

    Summary Objective To identify potential electrocardiographic predictors of peripartum cardiomyopathy (PPCM). Methods: This was a case–control study carried out in three hospitals in Kano, Nigeria. Logistic regression models and a risk score were developed to determine electrocardiographic predictors of PPCM. Results: A total of 54 PPCM and 77 controls were consecutively recruited after satisfying the inclusion criteria. After controlling for confounding variables, a rise in heart rate of one beat/minute increased the risk of PPCM by 6.4% (p = 0.001), while the presence of ST–T-wave changes increased the odds of PPCM 12.06-fold (p < 0.001). In the patients, QRS duration modestly correlated (r = 0.4; p < 0.003) with left ventricular dimensions and end-systolic volume index, and was responsible for 19.9% of the variability of the latter (R2 = 0.199; p = 0.003). A risk score of ≥ 2, developed by scoring 1 for each of the three ECG disturbances (tachycardia, ST–T-wave abnormalities and QRS duration), had a sensitivity of 85.2%, specificity of 64.9%, negative predictive value of 86.2% and area under the curve of 83.8% (p < 0.0001) for potentially predicting PPCM. Conclusion In postpartum women, using the risk score could help to streamline the diagnosis of PPCM with significant accuracy, prior to confirmatory investigations PMID:27213852

  17. A surprising cause of reversible dilated cardiomyopathy

    PubMed Central

    Vlot, Mariska; de Jong, Margriet; de Ronde, Pim; Tukkie, Raymond

    2014-01-01

    This case report describes two cases of dilated cardiomyopathy due to hypocalcaemia as a result of hypoparathyroidism. Patient A suffered from dilated cardiomyopathy due to secondary hypoparathyroidism as a result of previous neck surgery. Patient B suffered from dilated cardiomyopathy with congestive heart failure due to primary hypoparathyroidism. Hypoparathyroidism can exist for years before being recognised, especially after neck surgery. Besides standard treatment of heart failure, restoration of serum calcium levels with calcium and vitamin D supplementation can lead to rapid improvement of cardiac function and should be continued lifelong. Both patients were responding very well to heart failure therapy and calcium supplementation as ejection fraction improved after restoration of plasma calcium levels. This case report emphasises that hypocalcaemia should be in the differential diagnosis of heart failure. PMID:24879729

  18. The Role of CMR in Cardiomyopathies

    PubMed Central

    Kramer, Christopher M.

    2015-01-01

    Cardiac magnetic resonance imaging (CMR) has made major inroads in the new millenium in the diagnosis and assessment of prognosis for patients with cardiomyopathies. Imaging of left and right ventricular structure and function and tissue characterization with late gadolinium enhancement (LGE) as well as T1 and T2 mapping enable accurate diagnosis of the underlying etiology. In the setting of coronary artery disease, either transmurality of LGE or contractile reserve in response to dobutamine can assess the likelihood of recovery of function after revascularization. The presence of scar reduces the likelihood of response to medical therapy and to cardiac resynchronization therapy in heart failure. The presence and extent of LGE relate to overall cardiovascular outcome in cardiomyopathies. An emerging major role for CMR in cardiomyopathies is to identify myocardial scar for diagnostic and prognostic purposes. PMID:26033902

  19. Myocardial gallium-67 imaging in dilated cardiomyopathy

    PubMed Central

    O'Connell, John B.; Henkin, Robert E.

    1985-01-01

    The use of gallium-67, an isotope that is avid for areas of inflammation in patients with dilated cardiomyopathy, is described and compared with endomyocardial biopsy in 68 consecutive patients with dilated cardiomyopathy. Myocarditis was diagnosed in 8% on biopsy and the likelihood of a positive biopsy when the gallium scan was positive for inflammation, rose to 36%. It is concluded that gallium scanning is a useful adjunct to biopsy in detecting myocarditis in patients with dilated cardiomyopathy and in following patients with evidence of myocarditis on biopsy. Disadvantages of gallium-67 imaging include the radiation dose accumulated with multiple scans and 72h delay from initial injection of the isotope to imaging. It is suggested that definitive conclusions regarding the technique should await the results of a large multicentre trial evaluating gallium in comparison with endomyocardial biopsy in the diagnosis of myocarditis. ImagesFigure 1Figure 2

  20. Takotsubo cardiomyopathy: can hearts really break?

    PubMed

    Farris, Cindy; McEnroe-Petitte, Denise; Kanayama, Tiffanie

    2014-01-01

    Takotsubo cardiomyopathy (TCM), or broken-heart syndrome, is a form of cardiomyopathy (CM) that is significantly different from other common types. This form of CM occurs spontaneously and can be easily reversed. TCM is seen primarily in postmenopausal women with a recent stressful event. Patients with TCM often present with symptoms suggestive of a myocardial infarction. Home health-care and hospice clinicians interact frequently with caregivers and other family members who are living under stressful circumstances. It is important that home care clinicians be familiar with TCM and understand the relationship that may exist between stress, stressful events, triggers, and TCM. PMID:24978575

  1. Primary cardiac lymphoma mimicking infiltrative cardiomyopathy.

    PubMed

    Lee, Ga Yeon; Kim, Won Seog; Ko, Young-Hyeh; Choi, Jin-Oh; Jeon, Eun-Seok

    2013-05-01

    Primary cardiac lymphoma is a rare malignancy which has been described as thickened myocardium due to the infiltration of atypical lymphocytes and accompanying intracardiac masses. Here, we report a case of a primary cardiac lymphoma without demonstrable intracardiac masses, mimicking infiltrative cardiomyopathy. A 40-year-old male presented with exertional dyspnoea and was diagnosed as having restrictive cardiomyopathy with severely decreased LV systolic function. Endomyocardial biopsy was performed and the diagnosis of primary cardiac lymphoma was confirmed. After appropriate chemotherapy, he recovered his systolic function fully. PMID:23248217

  2. Celiac disease with pulmonary haemosiderosis and cardiomyopathy.

    PubMed

    Işikay, Sedat; Yilmaz, Kutluhan; Kilinç, Metin

    2012-01-01

    Celiac disease or pulmonary haemosiderosis can be associated with several distinguished conditions. Pulmonary haemosiderosis is a rare, severe and fatal disease characterised by recurrent episodes of alveolar haemorrhage, haemoptysis and anaemia. Association of pulmonary haemosiderosis and celiac disease is extremely rare. We describe a case of celiac disease presented with dilated cardiomyopathy and pulmonary haemosiderosis without gastrointestinal symptoms of celiac disease. In addition, vitamin A deficiency was detected. This case suggests that celiac disease should be considered in patients with cardiomyopathy and/or pulmonary haemosiderosis regardless of the intestinal symptoms of celiac disease. PMID:23169927

  3. Arrhythmogenic Noncompaction Cardiomyopathy: Is There an Echocardiographic Phenotypic Overlap of Two Distinct Cardiomyopathies?

    PubMed Central

    Aras, Dursun; Cay, Serkan; Ozcan, Firat; Baser, Kazım; Dogan, Umuttan; Unlu, Murat; Demirkan, Burcu; Tufekcioglu, Omac; Topaloglu, Serkan

    2015-01-01

    The clinical diagnosis of right ventricular (RV) cardiomyopathies is often challenging. It is difficult to differentiate the isolated left ventricular (LV) noncompaction cardiomyopathy (NC) from biventricular NC or from coexisting arrhythmogenic ventricular cardiomyopathy (AC). There are currently few established morphologic criteria for the diagnosis other than RV dilation and presence of excessive regional trabeculation. The gross and microscopic changes suggest pathological similarities between, or coexistence of, RV-NC and AC. Therefore, the term arrhythmogenic right ventricular cardiomyopathy is somewhat misleading as isolated LV or biventricular involvement may be present and thus a broader term such as AC should be preferred. We describe an unusual case of AC associated with a NC in a 27-year-old man who had a history of permanent pacemaker 7 years ago due to second-degree atrioventricular block. PMID:26448828

  4. Experimental Therapies in Hypertrophic Cardiomyopathy

    PubMed Central

    Marian, Ali J.

    2010-01-01

    The quintessential clinical diagnostic phenotype of human hypertrophic cardiomyopathy (HCM) is primary cardiac hypertrophy. Cardiac hypertrophy is also a major determinant of mortality and morbidity including the risk of sudden cardiac death (SCD) in patients with HCM. Reversal and attenuation of cardiac hypertrophy and its accompanying fibrosis is expected to improve morbidity as well as decrease the risk of SCD in patients with HCM. The conventionally used pharmacological agents in treatment of patients with HCM have not been shown to reverse or attenuate established cardiac hypertrophy and fibrosis. An effective treatment of HCM has to target the molecular mechanisms that are involved in the pathogenesis of the phenotype. Mechanistic studies suggest that cardiac hypertrophy in HCM is secondary to activation of various hypertrophic signaling molecules and, hence, is potentially reversible. The hypothesis is supported by the results of genetic and pharmacological interventions in animal models. The results have shown potential beneficial effects of angiotensin II receptor blocker losartan, mineralocorticoid receptor blocker spironolactone, 3-hydroxy-3-methyglutaryl-coenzyme A reductase inhibitors simvastatin and atorvastatin, and most recently, N-acetylcysteine (NAC) on reversal or prevention of hypertrophy and fibrosis in HCM. The most promising results have been obtained with NAC, which through multiple thiol-responsive mechanisms completely reversed established cardiac hypertrophy and fibrosis in three independent studies. Pilot studies with losartan and statins in humans have established the feasibility of such studies. The results in animal models have firmly established the reversibility of established cardiac hypertrophy and fibrosis in HCM and have set the stage for advancing the findings in the animal models to human patients with HCM through conducting large-scale efficacy studies. PMID:20560006

  5. Strength Gains as a Result of Brief, Infrequent Resistance Exercise in Older Adults.

    PubMed

    Fisher, James; Steele, James; McKinnon, Pat; McKinnon, Stephen

    2014-01-01

    Chronological aging is associated with a decrease in skeletal muscle mass and bone mineral density, an increase in fat mass, frequency of falls and fractures, and the likelihood of obesity, diabetes, and coronary heart disease. Resistance exercise has been shown to counter all of these effects of aging and, in turn, reduce the risk of all-cause mortality. However, variables such as volume and frequency have become contentious issues, with recent publications suggesting that similar physiological adaptations are possible with both high- and low-volume approaches. The aim of this research was to consider strength increases as a result of brief, infrequent resistance exercise. The present study offers data from 33 (14 male and 19 female) older adults (M = 55 years) who underwent brief (<15 minutes per exercise session), infrequent (2×/week), resistance exercise to a high intensity of effort (6-repetition maximum) at a controlled repetition duration (10 seconds concentric : 10 seconds eccentric) on 5 resistance machines (chest press, leg press, pull-down, seated row, and overhead press). Data is presented for training interventions of 12 weeks (male) and 19 weeks (female). Significant strength increases were identified for all exercises. With the detailed health benefits obtainable, the present study suggests that resistance exercise can be efficacious in much smaller volumes than previously considered. PMID:26464894

  6. The bacterial flagellar protein export apparatus processively transports flagellar proteins even with extremely infrequent ATP hydrolysis

    PubMed Central

    Minamino, Tohru; Morimoto, Yusuke V.; Kinoshita, Miki; Aldridge, Phillip D.; Namba, Keiichi

    2014-01-01

    For self-assembly of the bacterial flagellum, a specific protein export apparatus utilizes ATP and proton motive force (PMF) as the energy source to transport component proteins to the distal growing end. The export apparatus consists of a transmembrane PMF-driven export gate and a cytoplasmic ATPase complex composed of FliH, FliI and FliJ. The FliI6FliJ complex is structurally similar to the α3β3γ complex of FOF1-ATPase. FliJ allows the gate to efficiently utilize PMF to drive flagellar protein export but it remains unknown how. Here, we report the role of ATP hydrolysis by the FliI6FliJ complex. The export apparatus processively transported flagellar proteins to grow flagella even with extremely infrequent or no ATP hydrolysis by FliI mutation (E211D and E211Q, respectively). This indicates that the rate of ATP hydrolysis is not at all coupled with the export rate. Deletion of FliI residues 401 to 410 resulted in no flagellar formation although this FliI deletion mutant retained 40% of the ATPase activity, suggesting uncoupling between ATP hydrolysis and activation of the gate. We propose that infrequent ATP hydrolysis by the FliI6FliJ ring is sufficient for gate activation, allowing processive translocation of export substrates for efficient flagellar assembly. PMID:25531309

  7. Pathological features of hypertrophic obstructive cardiomyopathy

    PubMed Central

    Davies, M. J.; Pomerance, Ariela; Teare, R. D.

    1974-01-01

    The macroscopic features of hypertrophic obstructive cardiomyopathy are variable. The most easily recognized picture is of disproportionate and asymmetrical left ventricular hypertrophy with a small ventricular volume. Symmetrical ventricular hypertrophy also occurs and dilatation of the ventricular cavity may lead to a configuration more usually associated with congestive cardiomyopathy. Papillary muscle involvement leads to a bullet shape, often retained even when the ventricle dilates. Eighteen of the hearts showed a distinctive band of fibrous thickening below the aortic valve. This was a mirror image of the free edge of the anterior mitral cusp, had the microscopic features of an endocardial friction lesion, and was clearly the morphological expression of the systolic contact between cusp and septum seen on cineangiography. This band is characteristic of hypertrophic obstructive cardiomyopathy; it was more common in older patients and is of particular diagnostic value in cases with symmetrical hypertrophy, including those with dilated ventricular cavities. Sudden death was the commonest presentation in the younger cases but in several cases over 60 years at death hypertrophic obstructive cardiomyopathy was an incidental necropsy finding. Images PMID:4472994

  8. Insights into the hereditability of canine cardiomyopathy.

    PubMed

    Meurs, K M

    1998-11-01

    There is evidence for a genetic etiology of dilated cardiomyopathy in at least two breeds, the Doberman pinscher and the Boxer dog. Significant effort toward determining a genetic etiology in these breeds will depend on careful characterization of the disease, determination of criteria for diagnosing asymptomatic affected individuals, determination of a pattern of inheritance, and, eventually, molecular evaluation of the specific gene. PMID:10098247

  9. Hypertrophic Cardiomyopathy in Athletes: Catching a Killer.

    ERIC Educational Resources Information Center

    Maron, Barry J.

    1993-01-01

    A leading cause of sudden death among young athletes, hypertrophic cardiomyopathy (HCM) does not always present cardiac signs and symptoms. Echocardiography offers the most effective means for diagnosis. Some patients require pharmaceutical or surgical intervention. Patients with HCM should not engage in organized competitive sports or…

  10. Biventricular Takotsubo Cardiomyopathy Associated with Epilepsy

    PubMed Central

    Koo, Namho; Yoon, Byung Woo; Song, Yonggeon; Lee, Chang Kyun; Lee, Tae Yeon

    2015-01-01

    We describe a case of Takotsubo cardiomyopathy in an elderly woman after status epilepticus. In an emergency echocardiography, not only left ventricular apical ballooning but also right ventricular apical hypokinesia was observed. After a medical management, the patient's condition was improved and a follow-up echocardiography showed substantial recovery of left and right ventricular apical ballooning. PMID:26755936

  11. Aortic biomechanics in hypertrophic cardiomyopathy

    PubMed Central

    Badran, Hala Mahfouz; Soltan, Ghada; Faheem, Nagla; Elnoamany, Mohamed Fahmy; Tawfik, Mohamed; Yacoub, Magdi

    2015-01-01

    Background: Ventricular-vascular coupling is an important phenomenon in many cardiovascular diseases. The association between aortic mechanical dysfunction and left ventricular (LV) dysfunction is well characterized in many disease entities, but no data are available on how these changes are related in hypertrophic cardiomyopathy (HCM). Aim of the work: This study examined whether HCM alone is associated with an impaired aortic mechanical function in patients without cardiovascular risk factors and the relation of these changes, if any, to LV deformation and cardiac phenotype. Methods: 141 patients with HCM were recruited and compared to 66 age- and sex-matched healthy subjects as control group. Pulse pressure, aortic strain, stiffness and distensibility were calculated from the aortic diameters measured by M-mode echocardiography and blood pressure obtained by sphygmomanometer. Aortic wall systolic and diastolic velocities were measured using pulsed wave Doppler tissue imaging (DTI). Cardiac assessment included geometric parameters and myocardial deformation (strain and strain rate) and mechanical dyssynchrony. Results: The pulsatile change in the aortic diameter, distensibility and aortic wall systolic velocity (AWS') were significantly decreased and aortic stiffness index was increased in HCM compared to control (P < .001) In HCM AWS' was inversely correlated to age(r = − .32, P < .0001), MWT (r = − .22, P < .008), LVMI (r = − .20, P < .02), E/Ea (r = − .16, P < .03) LVOT gradient (r = − 19, P < .02) and severity of mitral regurg (r = − .18, P < .03) but not to the concealed LV deformation abnormalities or mechanical dyssynchrony. On multivariate analysis, the key determinant of aortic stiffness was LV mass index and LVOT obstruction while the role LV dysfunction in aortic stiffness is not evident in this population. Conclusion: HCM is associated with abnormal aortic mechanical properties. The severity of cardiac

  12. Autoimmune Myocarditis, Valvulitis, and Cardiomyopathy

    PubMed Central

    Myers, Jennifer M.; Cunningham, Madeleine W.; Fairweather, DeLisa; Huber, Sally A.

    2013-01-01

    Cardiac myosin-induced autoimmune myocarditis (EAM) is a model of inflammatory heart disease initiated by CD4+ T cells (Smith and Allen 1991; Li, Heuser et al. 2004). It is a paradigm of the immune-mediated cardiac damage believed to play a role in the pathogenesis of a subset of postinfectious human cardiomyopathies (Rose, Herskowitz et al. 1993). Myocarditis is induced in susceptible mice by immunization with purified cardiac myosin (Neu, Rose et al. 1987) or specific peptides derived from cardiac myosin (Donermeyer, Beisel et al. 1995; Pummerer, Luze et al. 1996) (see Basic Protocol 1), or by adoptive transfer of myosin-reactive T cells (Smith and Allen 1991) (see Alternate Protocol). Myocarditis has been induced in Lewis rats by immunization with purified rat or porcine cardiac myosin (Kodama, Matsumoto et al. 1990; Li, Heuser et al. 2004) (see Basic Protocol 2) or S2-16 peptide (Li, Heuser et al. 2004), or by adoptive transfer of T cells stimulated by specific peptides derived from cardiac myosin (Wegmann, Zhao et al. 1994). Myocarditis begins 12 to 14 days after the first immunization, and is maximal after 21 days. Other animal models commonly used to study myocarditis development include the pathogen-induced models in which disease is initiated by viral infection. The first murine model of acute viral myocarditis causes sudden death via viral damage to cardiomyocytes (Huber, Gauntt et al. 1998; Horwitz, La Cava et al. 2000; Fong 2003; Fuse, Chan et al. 2005; Fairweather and Rose 2007; Cihakova and Rose 2008) whereas the second model is based on inoculation with heart-passaged coxsackievirus B3 (CVB3) that includes damaged heart proteins (Fairweather, Frisancho-Kiss et al. 2004; Fairweather D 2004; Fairweather and Rose 2007; Cihakova and Rose 2008) In addition to the protocols used to induce EAM in mice and rats, support protocols are included for preparing purified cardiac myosin using mouse or rat heart tissue (see Support Protocol 1), preparing purified

  13. Infective endocarditis in hypertrophic cardiomyopathy

    PubMed Central

    Dominguez, Fernando; Ramos, Antonio; Bouza, Emilio; Muñoz, Patricia; Valerio, Maricela C.; Fariñas, M. Carmen; de Berrazueta, José Ramón; Zarauza, Jesús; Pericás Pulido, Juan Manuel; Paré, Juan Carlos; de Alarcón, Arístides; Sousa, Dolores; Rodriguez Bailón, Isabel; Montejo-Baranda, Miguel; Noureddine, Mariam; García Vázquez, Elisa; Garcia-Pavia, Pablo

    2016-01-01

    Abstract Infective endocarditis (IE) complicating hypertrophic cardiomyopathy (HCM) is a poorly known entity. Although current guidelines do not recommend IE antibiotic prophylaxis (IEAP) in HCM, controversy remains. This study sought to describe the clinical course of a large series of IE HCM and to compare IE in HCM patients with IE patients with and without an indication for IEAP. Data from the GAMES IE registry involving 27 Spanish hospitals were analyzed. From January 2008 to December 2013, 2000 consecutive IE patients were prospectively included in the registry. Eleven IE HCM additional cases from before 2008 were also studied. Clinical, microbiological, and echocardiographic characteristics were analyzed in IE HCM patients (n = 34) and in IE HCM reported in literature (n = 84). Patients with nondevice IE (n = 1807) were classified into 3 groups: group 1, HCM with native-valve IE (n = 26); group 2, patients with IEAP indication (n = 696); group 3, patients with no IEAP indication (n = 1085). IE episode and 1-year follow-up data were gathered. One-year mortality in IE HCM was 42% in our study and 22% in the literature. IE was more frequent, although not exclusive, in obstructive HCM (59% and 74%, respectively). Group 1 exhibited more IE predisposing factors than groups 2 and 3 (62% vs 40% vs 50%, P < 0.01), and more previous dental procedures (23% vs 6% vs 8%, P < 0.01). Furthermore, Group 1 experienced a higher incidence of Streptococcus infections than Group 2 (39% vs 22%, P < 0.01) and similar to Group 3 (39% vs 30%, P = 0.34). Overall mortality was similar among groups (42% vs 36% vs 35%, P = 0.64). IE occurs in HCM patients with and without obstruction. Mortality of IE HCM is high but similar to patients with and without IEAP indication. Predisposing factors, previous dental procedures, and streptococcal infection are higher in IE HCM, suggesting that HCM patients could benefit from IEAP. PMID:27368014

  14. WiFi Miner: An Online Apriori-Infrequent Based Wireless Intrusion System

    NASA Astrophysics Data System (ADS)

    Rahman, Ahmedur; Ezeife, C. I.; Aggarwal, A. K.

    Intrusion detection in wireless networks has become a vital part in wireless network security systems with wide spread use of Wireless Local Area Networks (WLAN). Currently, almost all devices are Wi-Fi (Wireless Fidelity) capable and can access WLAN. This paper proposes an Intrusion Detection System, WiFi Miner, which applies an infrequent pattern association rule mining Apriori technique to wireless network packets captured through hardware sensors for purposes of real time detection of intrusive or anomalous packets. Contributions of the proposed system includes effectively adapting an efficient data mining association rule technique to important problem of intrusion detection in a wireless network environment using hardware sensors, providing a solution that eliminates the need for hard-to-obtain training data in this environment, providing increased intrusion detection rate and reduction of false alarms.

  15. 46 XX pure gonadal dysgenesis: an infrequent cause of primary amenorrhoea

    PubMed Central

    Pertusa, Salvador; Palacios, Ana

    2009-01-01

    Amenorrhoea can be primary or secondary. Primary amenorrhoea is a relatively common problem among teenage girls. They usually consult their paediatrician or family doctor. This condition is present in patients with normal secondary sexual characteristics but no menarche by 16 years of age, or patients who have not had menstrual flow by age 14 and are lacking normal secondary sexual characteristics. Gonadal dysgenesis is an infrequent cause for primary amenorrhoea. In this paper, the case of a 16-year-old girl whose mother consulted their family doctor because of worries about her daughter’s lack of menarche is presented. A blood test showed elevated levels of follicle stimulating hormone (FSH) and luteinising hormone (LH) and low levels of oestradiol. An abdominal ultrasound was abnormal. A diagnostic laparoscopy with biopsy of both gonads was performed. Replacement hormonal therapy was applied resulting in normal menstruations after few months. An early diagnosis is extremely important. PMID:21686785

  16. Apical hypertrophic cardiomyopathy presenting as acute coronary syndrome.

    PubMed

    Abdin, Amr; Eitel, Ingo; de Waha, Suzanne; Thiele, Holger

    2016-06-01

    Apical hypertrophic cardiomyopathy is a rare variant of hypertrophic cardiomyopathy. It is characterized by a local hypertrophy of the apical segments and displays typical electrocardiographic and imaging patterns. The clinical manifestations are variable and range from an asymptomatic course to sudden cardiac death. The most frequent symptom is chest pain and thus apical hypertrophic cardiomyopathy can mimic the symptoms and repolarization disturbances indicative of acute coronary syndrome. PMID:26628684

  17. Reversible catecholamine-induced cardiomyopathy due to pheochromocytoma: case report.

    PubMed

    Satendra, Milan; de Jesus, Cláudia; Bordalo e Sá, Armando L; Rosário, Luís; Rocha, José; Bicha Castelo, Henrique; Correia, Maria José; Nunes Diogo, António

    2014-03-01

    Pheochromocytoma is a tumor originating from chromaffin tissue. It commonly presents with symptoms and signs of catecholamine excess, such as hypertension, tachycardia, headache and sweating. Cardiovascular manifestations include catecholamine-induced cardiomyopathy, which may present as severe left ventricular dysfunction and congestive heart failure. We report a case of pheochromocytoma which was diagnosed following investigation of dilated cardiomyopathy. We highlight the dramatic symptomatic improvement and reversal of cardiomyopathy, with recovery of left ventricular function after treatment. PMID:24684896

  18. Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

    PubMed Central

    Byers, Stephanie L; Ficicioglu, Can

    2014-01-01

    Inborn errors of metabolism are identified in 5%-26% of infants and children with cardiomyopathy. Although fatty acid oxidation disorders, lysosomal and glycogen storage disorders and organic acidurias are well-known to be associated with cardiomyopathies, emerging reports suggest that mitochondrial dysfunction and congenital disorders of glycosylation may also account for a proportion of cardiomyopathies. This review article clarifies when primary care physicians and cardiologists should suspect inborn errors of metabolism in a patient with cardiomyopathy, and refer the patient to a metabolic specialist for a further metabolic work up, with specific discussions of “red flags” which should prompt additional evaluation. PMID:25429327

  19. Cardiomyopathies: Evolution of pathogenesis concepts and potential for new therapies

    PubMed Central

    Sisakian, Hamayak

    2014-01-01

    Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition, classification and clinical diagnosis. In recent decades, major advances have been made in the understanding of the molecular and genetic issues, pathophysiology, and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here, special attention is given to evolution of classification of cardiomyopathies, with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course, and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phenotype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods, particularly echocardiography, and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary, this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists. PMID:24976920

  20. Takotsubo Cardiomyopathy: Case Series and Literature Review

    PubMed Central

    Cavayero, Chase; Kar, Pran; Kar, Sunny

    2016-01-01

    Although originally considered to be uncommon, Takotsubo cardiomyopathy is becoming increasingly visible, annually comprising an increasing portion of suspected diagnoses of acute coronary syndrome. This condition is characterized by reversible left ventricular akinesis without significant coronary artery obstruction. This case study presents five patients diagnosed with Takotsubo cardiomyopathy, as confirmed by echocardiogram and angiography. All of the patients presented with classic myocardial chest pain and elevated troponins. Following diagnosis, they were treated with supportive measures, particularly angiotensin-converting enzyme inhibitors, and beta-blockers. All patients made a full recovery. Though the mechanism of Takotsubo has not been fully elucidated, hypotheses suggest it may be related to excessive catecholamine levels causing either myocardial stunning or coronary vasospasm. Recognition and understanding of this unusual pathology are essential because it can lead to improved clinical management. PMID:27446769

  1. What About Tachycardia-induced Cardiomyopathy?

    PubMed Central

    Ellis, Ethan R; Josephson, Mark E

    2013-01-01

    Long-standing tachycardia is a well-recognised cause of heart failure and left ventricular dysfunction, and has led to the nomenclature, tachycardia-induced cardiomyopathy (TIC). TIC is generally a reversible cardiomyopathy if the causative tachycardia can be treated effectively, either with medications, surgery or catheter ablation. The diagnosis is usually made after demonstrating recovery of left ventricular function with normalisation of heart rate in the absence of other identifiable aetiologies. One hundred years after the first reported case of TIC, our understanding of the pathophysiology of TIC in humans remains limited despite extensive work in animal models of TIC. In this review we will discuss the proposed mechanisms of TIC, the causative tachyarrhythmias and their treatment, outcomes for patients diagnosed with TIC, and future directions for research and clinical care. PMID:26835045

  2. Targets for therapy in sarcomeric cardiomyopathies

    PubMed Central

    Tardiff, Jil C.; Carrier, Lucie; Bers, Donald M.; Poggesi, Corrado; Ferrantini, Cecilia; Coppini, Raffaele; Maier, Lars S.; Ashrafian, Houman; Huke, Sabine; van der Velden, Jolanda

    2015-01-01

    To date, no compounds or interventions exist that treat or prevent sarcomeric cardiomyopathies. Established therapies currently improve the outcome, but novel therapies may be able to more fundamentally affect the disease process and course. Investigations of the pathomechanisms are generating molecular insights that can be useful for the design of novel specific drugs suitable for clinical use. As perturbations in the heart are stage-specific, proper timing of drug treatment is essential to prevent initiation and progression of cardiac disease in mutation carrier individuals. In this review, we emphasize potential novel therapies which may prevent, delay, or even reverse hypertrophic cardiomyopathy caused by sarcomeric gene mutations. These include corrections of genetic defects, altered sarcomere function, perturbations in intracellular ion homeostasis, and impaired myocardial energetics. PMID:25634554

  3. What About Tachycardia-induced Cardiomyopathy?

    PubMed

    Ellis, Ethan R; Josephson, Mark E

    2013-11-01

    Long-standing tachycardia is a well-recognised cause of heart failure and left ventricular dysfunction, and has led to the nomenclature, tachycardia-induced cardiomyopathy (TIC). TIC is generally a reversible cardiomyopathy if the causative tachycardia can be treated effectively, either with medications, surgery or catheter ablation. The diagnosis is usually made after demonstrating recovery of left ventricular function with normalisation of heart rate in the absence of other identifiable aetiologies. One hundred years after the first reported case of TIC, our understanding of the pathophysiology of TIC in humans remains limited despite extensive work in animal models of TIC. In this review we will discuss the proposed mechanisms of TIC, the causative tachyarrhythmias and their treatment, outcomes for patients diagnosed with TIC, and future directions for research and clinical care. PMID:26835045

  4. Stress-Induced Cardiomyopathy Presenting as Shock

    PubMed Central

    Yoo, Tae Kyung; Lee, Jong-Young; Oh, Sam Sae; Song, Young Seok; Lee, Seung Jae; Ko, Kyung Jin

    2016-01-01

    Stress-induced cardiomyopathy has become a more recognized and reported entity. It can be caused by emotional or physical stress, which causes excessive catecholamine release. Typically, the clinical course is benign with conservative treatment being effective. However, stress-induced cardiomyopathy can be fatal. A 41-year-old female presented with cardiogenic shock followed by sudden back pain. Initial echocardiographic finding showed severely decreased ejection fraction with akinesia at all mid-to-apical walls with relatively preserved basal wall contractility. The coronary artery was intact on coronary angiography. Cardiac resuscitation and extra-corporeal membrane oxygenation was needed to manage the cardiogenic shock. Recovery was complete after 2 weeks. PMID:27081451

  5. A case of Takotsubo cardiomyopathy after chemotherapy.

    PubMed

    Malley, Tamir; Watson, Edmund

    2016-04-01

    Here we present the case of a patient with diffuse large B-cell lymphoma who was admitted to hospital for an elective autologous peripheral blood stem cell transplant after cytotoxic treatment with lomustine, cytarabine, cyclophosphomide and etoposide (LACE). On the final day of chemotherapeutic treatment, she developed sudden onset dyspnoea. Electrocardiography confirmed acute antero-lateral T-wave inversion. She went onto have coronary angiography that demonstrated unobstructed coronary arteries. Left ventriculography demonstrated apical ballooning, consistent with Takotsubo (stress) cardiomyopathy. The link between chemotherapy and Takotsubo cardiomyopathy has become increasingly recognized in recent years, although causality remains to be established and the mechanism of action is not yet fully understood. PMID:27066260

  6. A case of Takotsubo cardiomyopathy after chemotherapy

    PubMed Central

    Malley, Tamir; Watson, Edmund

    2016-01-01

    Here we present the case of a patient with diffuse large B-cell lymphoma who was admitted to hospital for an elective autologous peripheral blood stem cell transplant after cytotoxic treatment with lomustine, cytarabine, cyclophosphomide and etoposide (LACE). On the final day of chemotherapeutic treatment, she developed sudden onset dyspnoea. Electrocardiography confirmed acute antero-lateral T-wave inversion. She went onto have coronary angiography that demonstrated unobstructed coronary arteries. Left ventriculography demonstrated apical ballooning, consistent with Takotsubo (stress) cardiomyopathy. The link between chemotherapy and Takotsubo cardiomyopathy has become increasingly recognized in recent years, although causality remains to be established and the mechanism of action is not yet fully understood. PMID:27066260

  7. Neurogenic stress cardiomyopathy associated with subarachnoid hemorrhage.

    PubMed

    Pinnamaneni, Sowmya; Dutta, Tanya; Melcer, Joshua; Aronow, Wilbert S

    2015-01-01

    Cardiac manifestations are recognized complications of subarachnoid hemorrhage. Neurogenic stress cardiomyopathy is one complication that is seen in acute subarachnoid hemorrhage. It can present as transient diffuse left ventricular dysfunction or as transient regional wall motion abnormalities. It occurs more frequently with neurologically severe-grade subarachnoid hemorrhage and is associated with increased morbidity and poor clinical outcomes. Managing this subset of patients is challenging. Early identification followed by a multidisciplinary team approach can potentially improve outcomes. PMID:25606704

  8. Immersion pulmonary oedema and Takotsubo cardiomyopathy.

    PubMed

    Ng, Andrew; Edmonds, Carl

    2015-12-01

    A 67-year-old female scuba diver developed a typical immersion pulmonary oedema (IPE), but investigations strongly indicated Takotsubo cardiomyopathy (TC). The cardiac abnormalities included increased cardiac enzymes, electrocardiographic anomalies and echocardiographic changes, all reverting to normal within days. This case demonstrates a similarity and association between IPE and TC, and the importance of prompt cardiac investigations both in the investigation of IPE and in making the diagnosis of TC. PMID:26687314

  9. The broken heart syndrome: Takotsubo cardiomyopathy.

    PubMed

    Peters, Matthew N; George, Praveen; Irimpen, Anand M

    2015-05-01

    First described in 1990, Takotsubo cardiomyopathy consists of a transient systolic dysfunction of localized segments of the left ventricle. Commonly occurring in postmenopausal women, Takotsubo is often associated with intense physical and/or emotional stress. It is traditionally identified by distinctive wall motion patterns on transthoracic echocardiogram and left ventriculography. Further understanding of the disease mechanisms and recognition of at-risk populations has potentially tremendous therapeutic benefit. PMID:25576036

  10. Alterations in cell adhesion proteins and cardiomyopathy

    PubMed Central

    Li, Jifen

    2014-01-01

    Cell adhesive junction is specialized intercellular structure composed of cell adhesion proteins. They are essential to connect adjacent heart muscle cell and make heart contraction effectively and properly. Clinical and genetic studies have revealed close relationship between cell adhesive proteins and the occurrence of various cardiomyopathies. Here we will review recent development on the disease phenotype, potential cellular and molecular mechanism related to cell adhesion molecules, with particular disease pathogenesis learned from genetic manipulated murine models. PMID:24944760

  11. Chagas disease cardiomyopathy: immunopathology and genetics.

    PubMed

    Cunha-Neto, Edecio; Chevillard, Christophe

    2014-01-01

    Chagas disease, caused by the protozoan Trypanosoma cruzi, is endemic in Latin America and affects ca. 10 million people worldwide. About 30% of Chagas disease patients develop chronic Chagas disease cardiomyopathy (CCC), a particularly lethal inflammatory cardiomyopathy that occurs decades after the initial infection, while most patients remain asymptomatic. Mortality rate is higher than that of noninflammatory cardiomyopathy. CCC heart lesions present a Th1 T-cell-rich myocarditis, with cardiomyocyte hypertrophy and prominent fibrosis. Data suggest that the myocarditis plays a major pathogenetic role in disease progression. Major unmet goals include the thorough understanding of disease pathogenesis and therapeutic targets and identification of prognostic genetic factors. Chagas disease thus remains a neglected disease, with no vaccines or antiparasitic drugs proven efficient in chronically infected adults, when most patients are diagnosed. Both familial aggregation of CCC cases and the fact that only 30% of infected patients develop CCC suggest there might be a genetic component to disease susceptibility. Moreover, previous case-control studies have identified some genes associated to human susceptibility to CCC. In this paper, we will review the immunopathogenesis and genetics of Chagas disease, highlighting studies that shed light on the differential progression of Chagas disease patients to CCC. PMID:25210230

  12. Hypertrophic Cardiomyopathy in Owl Monkeys (Aotus spp.)

    PubMed Central

    Knowlen, Grant G; Weller, Richard E; Perry, Ruby L; Baer, Janet F; Gozalo, Alfonso S

    2013-01-01

    Cardiac hypertrophy is a common postmortem finding in owl monkeys. In most cases the animals do not exhibit clinical signs until the disease is advanced, making antemortem diagnosis of subclinical disease difficult and treatment unrewarding. We obtained echocardiograms, electrocardiograms, and thoracic radiographs from members of a colony of owl monkeys that previously was identified as showing a 40% incidence of gross myocardial hypertrophy at necropsy, to assess the usefulness of these modalities for antemortem diagnosis. No single modality was sufficiently sensitive and specific to detect all monkeys with cardiac hypertrophy. Electrocardiography was the least sensitive method for detecting owl monkeys with hypertrophic cardiomyopathy. Thoracic radiographs were more sensitive than was electrocardiography in this context but cannot detect animals with concentric hypertrophy without an enlarged cardiac silhouette. Echocardiography was the most sensitive method for identifying cardiac hypertrophy in owl monkeys. The most useful parameters suggestive of left ventricular hypertrophy in our owl monkeys were an increased average left ventricular wall thickness to chamber radius ratio and an increased calculated left ventricular myocardial mass. Parameters suggestive of dilative cardiomyopathy were an increased average left ventricular myocardial mass and a decreased average ratio of left ventricular free wall thickness to left ventricular chamber radius. When all 4 noninvasive diagnostic modalities (physical examination, echocardiography, electrocardiography, and thoracic radiography) were used concurrently, the probability of detecting hypertrophic cardiomyopathy in owl monkeys was increased greatly. PMID:23759531

  13. SPARC–Dependent Cardiomyopathy in Drosophila

    PubMed Central

    Motamedchaboki, Khatereh; Bodmer, Rolf

    2016-01-01

    Background— The Drosophila heart is an important model for studying the genetics underpinning mammalian cardiac function. The system comprises contractile cardiomyocytes, adjacent to which are pairs of highly endocytic pericardial nephrocytes that modulate cardiac function by uncharacterized mechanisms. Identifying these mechanisms and the molecules involved is important because they may be relevant to human cardiac physiology. Methods and Results— This work aimed to identify circulating cardiomodulatory factors of potential relevance to humans using the Drosophila nephrocyte–cardiomyocyte system. A Kruppel-like factor 15 (dKlf15) loss-of-function strategy was used to ablate nephrocytes and then heart function and the hemolymph proteome were analyzed. Ablation of nephrocytes led to a severe cardiomyopathy characterized by a lengthening of diastolic interval. Rendering adult nephrocytes dysfunctional by disrupting their endocytic function or temporally conditional knockdown of dKlf15 led to a similar cardiomyopathy. Proteomics revealed that nephrocytes regulate the circulating levels of many secreted proteins, the most notable of which was the evolutionarily conserved matricellular protein Secreted Protein Acidic and Rich in Cysteine (SPARC), a protein involved in mammalian cardiac function. Finally, reducing SPARC gene dosage ameliorated the cardiomyopathy that developed in the absence of nephrocytes. Conclusions— The data implicate SPARC in the noncell autonomous control of cardiac function in Drosophila and suggest that modulation of SPARC gene expression may ameliorate cardiac dysfunction in humans. PMID:26839388

  14. Chagas Disease Cardiomyopathy: Immunopathology and Genetics

    PubMed Central

    Chevillard, Christophe

    2014-01-01

    Chagas disease, caused by the protozoan Trypanosoma cruzi, is endemic in Latin America and affects ca. 10 million people worldwide. About 30% of Chagas disease patients develop chronic Chagas disease cardiomyopathy (CCC), a particularly lethal inflammatory cardiomyopathy that occurs decades after the initial infection, while most patients remain asymptomatic. Mortality rate is higher than that of noninflammatory cardiomyopathy. CCC heart lesions present a Th1 T-cell-rich myocarditis, with cardiomyocyte hypertrophy and prominent fibrosis. Data suggest that the myocarditis plays a major pathogenetic role in disease progression. Major unmet goals include the thorough understanding of disease pathogenesis and therapeutic targets and identification of prognostic genetic factors. Chagas disease thus remains a neglected disease, with no vaccines or antiparasitic drugs proven efficient in chronically infected adults, when most patients are diagnosed. Both familial aggregation of CCC cases and the fact that only 30% of infected patients develop CCC suggest there might be a genetic component to disease susceptibility. Moreover, previous case-control studies have identified some genes associated to human susceptibility to CCC. In this paper, we will review the immunopathogenesis and genetics of Chagas disease, highlighting studies that shed light on the differential progression of Chagas disease patients to CCC. PMID:25210230

  15. Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

    PubMed Central

    Callis, Thomas E; Jensen, Brian C; Weck, Karen E; Willis, Monte S

    2016-01-01

    Cardiomyopathies are an important and heterogeneous group of common cardiac diseases. An increasing number of cardiomyopathies are now recognized to have familial forms, which result from single-gene mutations that render a Mendelian inheritance pattern, including hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Recently, clinical genetic tests for familial cardiomyopathies have become available for clinicians evaluating and treating patients with these diseases, making it necessary to understand the current progress and challenges in cardiomyopathy genetics and diagnostics. In this review, we summarize the genetic basis of selected cardiomyopathies, describe the clinical utility of genetic testing for cardiomyopathies and outline the current challenges and emerging developments. PMID:20370590

  16. Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

    PubMed

    Ware, James S; Li, Jian; Mazaika, Erica; Yasso, Christopher M; DeSouza, Tiffany; Cappola, Thomas P; Tsai, Emily J; Hilfiker-Kleiner, Denise; Kamiya, Chizuko A; Mazzarotto, Francesco; Cook, Stuart A; Halder, Indrani; Prasad, Sanjay K; Pisarcik, Jessica; Hanley-Yanez, Karen; Alharethi, Rami; Damp, Julie; Hsich, Eileen; Elkayam, Uri; Sheppard, Richard; Kealey, Angela; Alexis, Jeffrey; Ramani, Gautam; Safirstein, Jordan; Boehmer, John; Pauly, Daniel F; Wittstein, Ilan S; Thohan, Vinay; Zucker, Mark J; Liu, Peter; Gorcsan, John; McNamara, Dennis M; Seidman, Christine E; Seidman, Jonathan G; Arany, Zoltan

    2016-01-21

    Background Peripartum cardiomyopathy shares some clinical features with idiopathic dilated cardiomyopathy, a disorder caused by mutations in more than 40 genes, including TTN, which encodes the sarcomere protein titin. Methods In 172 women with peripartum cardiomyopathy, we sequenced 43 genes with variants that have been associated with dilated cardiomyopathy. We compared the prevalence of different variant types (nonsense, frameshift, and splicing) in these women with the prevalence of such variants in persons with dilated cardiomyopathy and with population controls. Results We identified 26 distinct, rare truncating variants in eight genes among women with peripartum cardiomyopathy. The prevalence of truncating variants (26 in 172 [15%]) was significantly higher than that in a reference population of 60,706 persons (4.7%, P=1.3×10(-7)) but was similar to that in a cohort of patients with dilated cardiomyopathy (55 of 332 patients [17%], P=0.81). Two thirds of identified truncating variants were in TTN, as seen in 10% of the patients and in 1.4% of the reference population (P=2.7×10(-10)); almost all TTN variants were located in the titin A-band. Seven of the TTN truncating variants were previously reported in patients with idiopathic dilated cardiomyopathy. In a clinically well-characterized cohort of 83 women with peripartum cardiomyopathy, the presence of TTN truncating variants was significantly correlated with a lower ejection fraction at 1-year follow-up (P=0.005). Conclusions The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy. TTN truncating variants were the most prevalent genetic predisposition in each disorder. PMID:26735901

  17. Using naturalistic driving data to identify variables associated with infrequent, occasional, and consistent seat belt use.

    PubMed

    Reagan, Ian J; McClafferty, Julie A; Berlin, Sharon P; Hankey, Jonathan M

    2013-01-01

    Seat belt use is one of the most effective countermeasures to reduce traffic fatalities and injuries. The success of efforts to increase use is measured by road side observations and self-report questionnaires. These methods have shortcomings, with the former requiring a binary point estimate and the latter being subjective. The 100-car naturalistic driving study presented a unique opportunity to study seat belt use in that seat belt status was known for every trip each driver made during a 12-month period. Drivers were grouped into infrequent, occasional, or consistent seat belt users based on the frequency of belt use. Analyses were then completed to assess if these groups differed on several measures including personality, demographics, self-reported driving style variables as well as measures from the 100-car study instrumentation suite (average trip speed, trips per day). In addition, detailed analyses of the occasional belt user group were completed to identify factors that were predictive of occasional belt users wearing their belts. The analyses indicated that consistent seat belt users took fewer trips per day, and that increased average trip speed was associated with increased belt use among occasional belt users. The results of this project may help focus messaging efforts to convert occasional and inconsistent seat belt users to consistent users. PMID:22831496

  18. Infrequent Production of Xanthomegnin by Fungal Strains Recovered from Patients with Ocular Mycoses.

    PubMed

    Ozdemir, Havva Gül; Kandemir, Hazal; Çürük, Akif; Ilkit, Macit; Seyedmousavi, Seyedmojtaba

    2016-04-01

    Mycotoxins are putative virulence factors of fungi that play an important role in the pathogenesis of fungal infections. Mycotoxin production has been used as a diagnostic marker for the early diagnosis of fungal diseases. Using high-performance liquid chromatography, we investigated whether the fungal strains recovered from eye tissue samples obtained from patients with ocular mycoses produced the mycotoxin xanthomegnin. We tested 62 well-characterized strains of fungi, including Aspergillus spp. (n = 14), Exophiala spp. (n = 9), Fusarium spp. (n = 15), and several molds (n = 24). All isolates were identified to the species level using PCR and DNA sequencing of rRNA genes. We detected xanthomegnin activity (0.02 µg/ml) in one of the three Aspergillus flavus strains. However, we were unable to detect xanthomegnin in any of the other 61 fungal strains. Our result suggests that xanthomegnin production was infrequent in fungal strains recovered from patients with ocular mycoses. PMID:26590579

  19. High morphological variation of vestibular system accompanies slow and infrequent locomotion in three-toed sloths.

    PubMed

    Billet, Guillaume; Hautier, Lionel; Asher, Robert J; Schwarz, Cathrin; Crumpton, Nick; Martin, Thomas; Ruf, Irina

    2012-10-01

    The semicircular canals (SCs), part of the vestibular apparatus of the inner ear, are directly involved in the detection of angular motion of the head for maintaining balance, and exhibit adaptive patterns for locomotor behaviour. Consequently, they are generally believed to show low levels of intraspecific morphological variation, but few studies have investigated this assumption. On the basis of high-resolution computed tomography, we present here, to our knowledge, the first comprehensive study of the pattern of variation of the inner ear with a focus on Xenarthra. Our study demonstrates that extant three-toed sloths show a high level of morphological variation of the bony labyrinth of the inner ear. Especially, the variation in shape, relative size and angles of their SCs greatly differ from those of other, faster-moving taxa within Xenarthra and Placentalia in general. The unique pattern of variation in three-toed sloths suggests that a release of selection and/or constraints on their organ of balance is associated with the observed wide range of phenotypes. This release is coincident with their slow and infrequent locomotion and may be related, among other possible factors, to a reduced functional demand for a precise sensitivity to movement. PMID:22859594

  20. Comparison of the microbial composition of voice prosthesis biofilms from patients requiring frequent versus infrequent replacement.

    PubMed

    Elving, G Jolanda; van der Mei, Henny C; Busscher, Henk J; van Weissenbruch, Ranny; Albers, Frans W J

    2002-03-01

    This study was performed to establish a possible difference in biofilm composition in patients who require frequent versus infrequent prosthesis replacement. Only Groningen button voice prostheses that were removed because of increased airflow resistance or leakage of food or liquids through the prosthesis were considered for this study. These prostheses were selected from a total of 692 failed voice prostheses over a 2-year evaluation period. The failed voice prostheses were subdivided into a short-lifetime group, corresponding to an implantation period of less than 4 months (20 voice prostheses), and an extended-lifetime group, corresponding to an implantation period of greater than 9 months (18 voice prostheses). The biofilm was removed from the valve sides of the prostheses. The bacterial strain Rothia dentocariosa and the yeast strains Candida albicans I and Candida tropicalis were the predominant strains isolated from the biofilms on the voice prostheses in the short-lifetime group, whereas in the extended-lifetime group, R dentocariosa was found with a fourfold lower isolation frequency and C albicans I was found with a twofold lower isolation frequency. Candida tropicalis was absent from the extended-lifetime group. PMID:11915880

  1. "Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.

    PubMed

    Catteruccia, Michela; Sauchelli, Donato; Della Marca, Giacomo; Primiano, Guido; Cuccagna, Cristina; Bernardo, Daniela; Leo, Milena; Camporeale, Antonella; Sanna, Tommaso; Cianfoni, Alessandro; Servidei, Serenella

    2015-03-01

    The objective of the study was to better characterize the clinical phenotype associated with the A8344G "MERRF" mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus 40 %, epilepsy 40 %, ataxia 13 %. A restrictive respiratory insufficiency requiring ventilatory support was observed in about half of our patients. One patient developed a severe and rapidly progressive cardiomyopathy requiring cardioverter-defibrillator implantation. Five patients died of overwhelming, intractable lactic acidosis. Serial muscle MRIs identified a consistent pattern of muscle involvement and progression. Cardiac MRI showed non-ischemic late gadolinium enhancement in the left ventricle inferolateral part as early sign of myocardial involvement. Brain spectroscopy demonstrated increased peak of choline and reduction of N-acetylaspartate. Lactate was never detected in brain areas, while it could be documented in ventricles. We confirm that muscle involvement is the most frequent clinical feature associated with A8443G mutation. In contrast with previous reports, however, about half of our patients did not develop signs of CNS involvement even in later stages of the disease. The difference may be related to the infrequent investigation of A8344G mutation in 'pure' mitochondrial myo-cardiomyopathy, representing a bias and a possible cause of syndrome's underestimation. Our study highlights the importance of lactic acidosis and respiratory muscle insufficiency as critical prognostic factors. Muscle and cardiac MRI and brain spectroscopy may be useful tools in diagnosis and follow-up of MERRF. PMID:25559684

  2. Left ventricular mass in patients with a cardiomyopathy after treatment with anthracyclines.

    PubMed

    Neilan, Tomas G; Coelho-Filho, Otavio R; Pena-Herrera, Diego; Shah, Ravi V; Jerosch-Herold, Michael; Francis, Sanjeev A; Moslehi, Javid; Kwong, Raymond Y

    2012-12-01

    We aimed to describe the cardiac magnetic resonance (CMR) findings and determine the prognostic variables in patients with a cardiomyopathy after treatment with anthracyclines. CMR imaging was performed in 91 patients (58% men, mean age 43 ± 18 years, and mean anthracycline dose of 276 ± 82 mg/m(2)) with a reduced ejection fraction after anthracycline-based chemotherapy. Major adverse cardiovascular events were defined as cardiovascular death, appropriate implantable cardioverter-defibrillator therapy, and admission for decompensated heart failure. Patients presented a median of 88 months (interquartile range 37 to 138) after chemotherapy and were followed for 27 months (interquartile range 22 to 38). Late gadolinium enhancement was an uncommon finding (5 patients, 6%) despite a reduced ejection fraction (36 ± 8%). An inverse association was found between the anthracycline dose and the indexed left ventricular (LV) mass by CMR (r = -0.67, p <0.001). A total of 52 adverse cardiac events occurred (event rate of 22%/year). When the patients were grouped according to the presence or absence of a major adverse cardiovascular event, the indexed LV mass and glomerular filtration rate were lower and the anthracycline dose was greater among the patients who experienced an adverse event. In a multivariate model, the indexed LV mass demonstrated the strongest association with major adverse cardiovascular events (hazard ratio 0.89, chi-square 26, p <0.001). In conclusion, myocardial scar by late gadolinium enhancement-CMR is infrequent in patients with anthracycline-cardiomyopathy despite a reduced ejection fraction, the event rate in patients with established anthracycline-cardiotoxicity is high, and indexed LV mass by CMR imaging is a predictor of adverse cardiovascular events. PMID:22917553

  3. End-stage hypertrophic cardiomyopathy in a cat

    PubMed Central

    White, Andrew J.M.

    2015-01-01

    A 14-year-old Persian cat was referred for evaluation of the progression of hypertrophic cardiomyopathy (HCM) after an acute episode of congestive heart failure. The diagnosis of HCM had been made almost 13 years ago. Echocardiography and electrocardiography revealed end-stage hypertrophic cardiomyopathy and multifocal atrial tachycardia. The patient was discharged on medical management with a grave prognosis. PMID:25969586

  4. Anthracycline-induced cardiomyopathy in a dog treated with epirubicin

    PubMed Central

    Lee, Ye-Rin; Kang, Min-Hee; Park, Hee-Myung

    2015-01-01

    An 8-year-old American cocker spaniel dog was diagnosed with dilated cardiomyopathy. Four years earlier, the dog had been diagnosed with multicentric lymphoma and had received 4 cycles of multi-agent chemotherapy, including doxorubicin and epirubicin. The total cumulative dose of epirubicin was 168 mg/m2. Dilated cardiomyopathy was considered a consequence of epirubicin toxicity. PMID:26028676

  5. End-stage hypertrophic cardiomyopathy in a cat.

    PubMed

    White, Andrew J M

    2015-05-01

    A 14-year-old Persian cat was referred for evaluation of the progression of hypertrophic cardiomyopathy (HCM) after an acute episode of congestive heart failure. The diagnosis of HCM had been made almost 13 years ago. Echocardiography and electrocardiography revealed end-stage hypertrophic cardiomyopathy and multifocal atrial tachycardia. The patient was discharged on medical management with a grave prognosis. PMID:25969586

  6. Genetics Home Reference: DMD-associated dilated cardiomyopathy

    MedlinePlus

    ... 2344-7. Review. Citation on PubMed Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J ... Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M. X-linked dilated cardiomyopathy. Molecular genetic evidence ...

  7. Biographical and Clinical Variables Related to Frequent vs. Infrequent Visits by Students to a University Counseling and Mental Health Service.

    ERIC Educational Resources Information Center

    Hopper, Allen E.

    In this study, data gathered from the files of students contacting Louisiana State University's Counseling and Mental Health Service during a one year period clearly revealed significant differences between the frequent versus infrequent visitor: (1) student age; (2) previous exposure to psychotherapy; (3) local residence while in college; (4)…

  8. 40 CFR 1039.525 - How do I adjust emission levels to account for infrequently regenerating aftertreatment devices?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 32 2010-07-01 2010-07-01 false How do I adjust emission levels to account for infrequently regenerating aftertreatment devices? 1039.525 Section 1039.525 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR POLLUTION CONTROLS CONTROL OF EMISSIONS FROM NEW AND IN-USE NONROAD...

  9. 40 CFR 1042.525 - How do I adjust emission levels to account for infrequently regenerating aftertreatment devices?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 32 2010-07-01 2010-07-01 false How do I adjust emission levels to account for infrequently regenerating aftertreatment devices? 1042.525 Section 1042.525 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR POLLUTION CONTROLS CONTROL OF EMISSIONS FROM NEW AND IN-USE MARINE...

  10. Discriminating Malingered from Genuine Civilian Posttraumatic Stress Disorder: A Validation of Three MMPI-2 Infrequency Scales (F, Fp, and Fptsd)

    ERIC Educational Resources Information Center

    Elhai, Jon D.; Naifeh, James A.; Zucker, Irene S.; Gold, Steven N.; Deitsch, Sarah E.; Frueh, B. Christopher

    2004-01-01

    The Infrequency-Posttraumatic Stress Disorder scale (Fptsd), recently created for the Minnesota Multiphasic Personality Inventory-2 (MMPI-2), has demonstrated incremental validity over other MMPI-2 scales in malingered posttraumatic stress disorder (PTSD) detection. Fptsd was developed with combat-exposed PTSD patients, potentially limiting its…

  11. Imaging of Inflammation in Unexplained Cardiomyopathy.

    PubMed

    Kadkhodayan, Ana; Chareonthaitawee, Panithaya; Raman, Subha V; Cooper, Leslie T

    2016-05-01

    Myocarditis is a recognized but underdiagnosed cause of cardiomyopathy due to its wide clinical spectrum and nonspecific presentation. Accurate diagnosis is important because 25% of patients with acute myocarditis develop cardiomyopathy, and of those, approximately 5% per year require heart transplantation or die. Current guidelines for the recognition and treatment of the inflammatory cardiomyopathies are limited. The gold standard for diagnosis, endomyocardial biopsy, has low sensitivity, and thus, multimodality imaging of inflammation plays a crucial role in defining the cardiac abnormalities and in assisting with diagnosis and management. The literature on inflammatory cardiomyopathies is limited to small studies of selected populations due to the diverse etiologies and inherent difficulties in definitive diagnosis. This review focuses on the current and projected use of various imaging modalities, including echocardiography, cardiac magnetic resonance, and nuclear imaging to better define inflammatory cardiomyopathies and aid in their management; it specifically focuses on cardiac sarcoidosis, and giant cell, eosinophilic, and lymphocytic myocarditis. PMID:27151523

  12. Patient with Eating Disorder, Carnitine Deficiency and Dilated Cardiomyopathy.

    PubMed

    Fotino, A Domnica; Sherma, A

    2015-01-01

    Dilated cardiomyopathy is characterized by a dilated and poorly functioning left ventricle and can result from several different etiologies including ischemic, infectious, metabolic, toxins, autoimmune processes or nutritional deficiencies. Carnitine deficiency-induced cardiomyopathy (CDIM) is an uncommon cause of dilated cardiomyopathy that can go untreated if not considered. Here, we describe a 30-year-old woman with an eating disorder and recent percutaneous endoscopic gastrotomy (PEG) tube placement for weight loss admitted to the hospital for possible PEG tube infection. Carnitine level was found to be low. Transthoracic echocardiogram (TTE) revealed ejection fraction 15%. Her hospital course was complicated by sepsis from a peripherally inserted central catheter (PICC). She was discharged on a beta-blocker and carnitine supplementation. One month later her cardiac function had normalized. Carnitine deficiency-induced myopathy is an unusual cause of cardiomyopathy and should be considered in adults with decreased oral intake or malabsorption who present with cardiomyopathy. PMID:27159507

  13. [Mucinous ovarian neoplasms. Prognostically mostly excellent, infrequently a wolf in sheep's clothing].

    PubMed

    Lax, S; Staebler, A

    2014-07-01

    Mucinous ovarian neoplasms represent the second largest group of epithelial ovarian tumors after serous neoplasms, of which benign cystadenomas constitute more than 80 %. Mucinous cystadenomas and carcinomas cannot be distinguished by the clinical features or the mean age of onset of the disease. They typically occur unilaterally, are confined to the adnexae (FIGO stage I) and clinically present with non-specific abdominal symptoms or are diagnosed by chance. The mean age of disease onset is around 50 years old. The prognosis is excellent. Implants, peritoneal metastases and bilateral occurrence of ovarian mucinous neoplasms should lead to the suspicion of metastasis particularly from a gastrointestinal tumor. Neither microinvasion defined as a maximum extent of invasion of 5 mm, nor intraepithelial carcinoma characterized by high grade atypia without invasion, affect the prognosis of mucinous borderline tumors. Mucinous carcinomas typically show confluent glandular, expansile growth that leads to a labyrinth-like pattern. A destructive infiltrative or nodular growth pattern, however, should lead to the consideration of metastasis. Mural nodules that may reveal a spindle cell sarcomatous or anaplastic carcinomatous pattern occur infrequently in mucinous and do not affect the prognosis. Pax8 positivity is indicative of a primary ovarian neoplasm. In this case, however, mucinous tumors associated with teratomas may show the colonic immunoreaction pattern (CK7-/CK20+/CDX2+). The rare mucinous tumors with endocervical differentiation are now designated as seromucinous tumors and consist of two or more distinct cell types, are frequently associated with endometriosis and seem to show a molecular genetic relationship to endometrioid neoplasms. PMID:24962632

  14. Dilated cardiomyopathy following use of xenadrine EFX.

    PubMed

    Riccioni, Graziano; Speziale, Giuseppe; Scotti, Luca; Bucciarelli, Valentina; Cappetti, Silvia; Nasso, Giuseppe; Gallina, Sabina; Bucciarelli, Tonino

    2016-03-01

    We describe a case of a 35-year-old man presented at the emergency room of our institution with acute onset of dyspnea and dizziness. He was a body builder and had been using Xenadrine EFX for weight loss reduction. The laboratory analyses were normal. A chest radiograph showed an enlarged cardiac silhouette with clear lung fields. Transtoracic two-dimensional color Doppler echocardiography revealed a diffuse hypokinesia with a marked decreased in systolic function and a high teledyastolic diameter. This case document the possible relation to use of Xenadrine EFX for weight loss and the recurrence of dilated cardiomyopathy. PMID:26680256

  15. Dilated cardiomyopathy associated with toluene abuse.

    PubMed

    Vural, Mutlu; Ogel, Kultegin

    2006-01-01

    The use of paint thinner and glue to achieve an euphoric state has been associated with serious social and health problems in children and young adults. We present the case of a 21-year-old man with dilated cardiomyopathy occurring following abuse of paint thinner and glue containing toluene as main compound. After cessation of toluene abuse, the patient recovered rapidly and completely. Because of the increasing prevalence of toluene abuse, harmful effects of this volatile agent on the heart are also discussed. PMID:16479101

  16. Takotsubo cardiomyopathy precipitated by delirium tremens.

    PubMed

    Agu, Chidozie Charles; Bakhit, Ahmed; Basunia, Md; Bhattarai, Bikash; Oke, Vikram; Salhan, Divya; Schmidt, Frances

    2015-01-01

    A 57-year-old woman presented with alcohol withdrawal symptoms, which later progressed to delirium tremens. During hospitalization, she developed respiratory distress with acute pulmonary edema. Electrocardiogram (ECG) showed diffuse ST elevation with elevated cardiac enzymes. Echocardiogram showed estimated ejection fraction of 20-25% with characteristic apical ballooning. After several days of supportive care, the patient showed significant clinical improvement with normalization of ECG, cardiac enzymes, and echocardiographic findings. Coronary angiogram revealed no coronary abnormalities. Although Takotsubo cardiomyopathy has been associated with diverse forms of physical or emotional stress, only a few cases have been described with delirium tremens in the medical literature. PMID:26653700

  17. Takotsubo cardiomyopathy precipitated by delirium tremens

    PubMed Central

    Agu, Chidozie Charles; Bakhit, Ahmed; Basunia, Md; Bhattarai, Bikash; Oke, Vikram; Salhan, Divya; Schmidt, Frances

    2015-01-01

    A 57-year-old woman presented with alcohol withdrawal symptoms, which later progressed to delirium tremens. During hospitalization, she developed respiratory distress with acute pulmonary edema. Electrocardiogram (ECG) showed diffuse ST elevation with elevated cardiac enzymes. Echocardiogram showed estimated ejection fraction of 20–25% with characteristic apical ballooning. After several days of supportive care, the patient showed significant clinical improvement with normalization of ECG, cardiac enzymes, and echocardiographic findings. Coronary angiogram revealed no coronary abnormalities. Although Takotsubo cardiomyopathy has been associated with diverse forms of physical or emotional stress, only a few cases have been described with delirium tremens in the medical literature. PMID:26653700

  18. Autophagy and mitophagy in diabetic cardiomyopathy.

    PubMed

    Kobayashi, Satoru; Liang, Qiangrong

    2015-02-01

    Diabetic cardiomyopathy is a heart muscle-specific disease that increases the risk of heart failure and mortality in diabetic patients independent of vascular pathology. Mitochondria are cellular power plants that generate energy for heart contraction and concurrently produce reactive oxygen species that, if unchecked, may damage the mitochondria and the heart. Elimination of damaged mitochondria by autophagy known as mitophagy is an essential process for maintaining normal cardiac function at baseline and in response to various stress and disease conditions. Mitochondrial structural injury and functional impairment have been shown to contribute to diabetic heart disease. Recent studies have demonstrated an inhibited autophagic flux in the hearts of diabetic animals. Surprisingly, the diminished autophagy appears to be an adaptive response that protects against cardiac injury in type 1 diabetes. This raises several questions regarding the relationship between general autophagy and selective mitophagy in the diabetic heart. However, autophagy may play a different role in the hearts of type 2 diabetic animals. In this review, we will summarize current knowledge in this field and discuss the potential functional roles of autophagy and mitophagy in the pathogenesis of diabetic cardiomyopathy. This article is part of a Special Issue entitled: Autophagy and protein quality control in cardiometabolic diseases. PMID:24882754

  19. Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes

    PubMed Central

    Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat

    2016-01-01

    This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes. At later stages, heart failure may occur. Diagnosis is established with the 2010 Task Force Criteria (TFC). Modern imaging tools are crucial for ACM diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting functional and structural alternations. Of note, structural findings often become visible after electrical alterations, such as premature ventricular beats, ventricular fibrillation (VF) and ventricular tachycardia (VT). 12-lead ECG is important to assess for depolarisation and repolarisation abnormalities, including T-wave inversions as the most common ECG abnormality. Family history and the detection of causative mutations, mostly affecting the desmosome, have been incorporated in the TFC, and stress the importance of cascade family screening. Differential diagnoses include idiopathic right ventricular outflow tract (RVOT) VT, sarcoidosis, congenital heart disease, myocarditis, dilated cardiomyopathy, athlete’s heart, Brugada syndrome and RV infarction. Therapeutic strategies include restriction from endurance and competitive sports, β-blockers, antiarrhythmic drugs, heart failure medication, implantable cardioverter-defibrillators and endocardial/epicardial catheter ablation. PMID:27617087

  20. Diabetic cardiomyopathy: Pathophysiology, diagnostic evaluation and management

    PubMed Central

    Pappachan, Joseph M; Varughese, George I; Sriraman, Rajagopalan; Arunagirinathan, Ganesan

    2013-01-01

    Diabetes affects every organ in the body and cardiovascular disease accounts for two-thirds of the mortality in the diabetic population. Diabetes-related heart disease occurs in the form of coronary artery disease (CAD), cardiac autonomic neuropathy or diabetic cardiomyopathy (DbCM). The prevalence of cardiac failure is high in the diabetic population and DbCM is a common but underestimated cause of heart failure in diabetes. The pathogenesis of diabetic cardiomyopathy is yet to be clearly defined. Hyperglycemia, dyslipidemia and inflammation are thought to play key roles in the generation of reactive oxygen or nitrogen species which are in turn implicated. The myocardial interstitium undergoes alterations resulting in abnormal contractile function noted in DbCM. In the early stages of the disease diastolic dysfunction is the only abnormality, but systolic dysfunction supervenes in the later stages with impaired left ventricular ejection fraction. Transmitral Doppler echocardiography is usually used to assess diastolic dysfunction, but tissue Doppler Imaging and Cardiac Magnetic Resonance Imaging are being increasingly used recently for early detection of DbCM. The management of DbCM involves improvement in lifestyle, control of glucose and lipid abnormalities, and treatment of hypertension and CAD, if present. The role of vasoactive drugs and antioxidants is being explored. This review discusses the pathophysiology, diagnostic evaluation and management options of DbCM. PMID:24147202

  1. Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes.

    PubMed

    Akdis, Deniz; Brunckhorst, Corinna; Duru, Firat; Saguner, Ardan M

    2016-08-01

    This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes. At later stages, heart failure may occur. Diagnosis is established with the 2010 Task Force Criteria (TFC). Modern imaging tools are crucial for ACM diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting functional and structural alternations. Of note, structural findings often become visible after electrical alterations, such as premature ventricular beats, ventricular fibrillation (VF) and ventricular tachycardia (VT). 12-lead ECG is important to assess for depolarisation and repolarisation abnormalities, including T-wave inversions as the most common ECG abnormality. Family history and the detection of causative mutations, mostly affecting the desmosome, have been incorporated in the TFC, and stress the importance of cascade family screening. Differential diagnoses include idiopathic right ventricular outflow tract (RVOT) VT, sarcoidosis, congenital heart disease, myocarditis, dilated cardiomyopathy, athlete's heart, Brugada syndrome and RV infarction. Therapeutic strategies include restriction from endurance and competitive sports, β-blockers, antiarrhythmic drugs, heart failure medication, implantable cardioverter-defibrillators and endocardial/epicardial catheter ablation. PMID:27617087

  2. Graves' thyrotoxicosis-induced reversible cardiomyopathy: a case report.

    PubMed

    Al-Ghamdi, Ahmad S; Aljohani, Naji

    2013-01-01

    The objective of this report is to present a case of Graves' thyrotoxicosis-induced cardiomyopathy. This is a case of a 26 year old woman that presented with severe symptomatic congestive heart failure and was subsequently diagnosed with dilated cardiomyopathy secondary to Graves' disease. Despite an initial left ventricular systolic ejection fraction of 20% on echocardiography, treatment with anti-thyroid agents led to rapid improvement of her clinical status and normalization of her ejection fraction. The proposed mechanisms underlying the development of systolic dysfunction in thyrotoxicosis are discussed and the literature on similar cases previously reported is highlighted. Cardiomyopathy should be considered even in young patients with Graves' thyrotoxicosis. PMID:23645990

  3. Right ventricular obstruction in various types of hypertrophic cardiomyopathy.

    PubMed

    Stierle, U; Sheikhzadeh, A; Shakibi, J G; Langbehn, A F; Diederich, K W

    1987-01-01

    Hypertrophic cardiomyopathy (HCM) is most probably a genetically transmitted disease with different clinical and hemodynamic features. In hypertrophic obstructive cardiomyopathy (HOCM) the obstruction is predominantly in the left ventricular outflow tract (IHSS). In a minority of cases the obstruction is strictly located in midventricle (midventricular obstruction, MO). Hypertrophic nonobstructive cardiomyopathy (HNCM) includes asymmetric septal hypertrophy (ASH) and apical hypertrophy (AH). Right ventricular hypertrophic obstruction (RVHO) is an uncommon type of HCM and is almost always combined with other types of left ventricular HCM. We describe in the present report 1 case of RVHO with IHSS, 2 cases with MO and, to our knowledge, the first case with AH. PMID:3599397

  4. Hypothyroid cardiomyopathy in a patient post-doxorubicin chemotherapy.

    PubMed

    Silver, Adam Jeffrey; Patel, Hena N; Okwuosa, Tochi

    2016-01-01

    Hypothyroidism may cause decreased cardiac output and heart failure-and when severe, bradycardia and pericardial effusions may develop. Chemotherapies, particularly doxorubicin, are known and often irreversible causes of cardiomyopathy. As such, when cardiomyopathy develops in patients who have been exposed to anthracycline chemotherapy, the importance of ruling out other reversible causes such as hypothyroidism cannot be overstated. We present a case of acute systolic heart failure in a patient post-doxorubicin chemotherapy and radiation therapy for alveolar rhabdomyosarcoma, found to have severe hypothyroidism as a reversible cause of cardiomyopathy. PMID:27053539

  5. Chronic respiratory illness as a predictor of survival in idiopathic dilated cardiomyopathy: the Washington, DC, Dilated Cardiomyopathy Study.

    PubMed Central

    Martin, S. A.; Coughlin, S. S.; Metayer, C.; René, A. A.; Hammond, I. W.

    1996-01-01

    Although bronchial asthma and emphysema have been associated with idiopathic dilated cardiomyopathy in case-control studies, little is known about the prognostic importance of chronic respiratory disease in idiopathic dilated cardiomyopathy. To study this, we examined history of bronchial asthma, emphysema and chronic bronchitis, and respiratory medication use as possible predictors of survival in idiopathic dilated cardiomyopathy using data from a Washington, DC, population-based study (n = 129). The cumulative survival rates among patients with a history of emphysema or chronic bronchitis were 60% and 48% at 12 and 36 months, respectively, compared with 81.8% and 67.2% among patients without emphysema or chronic bronchitis. The survival rates of idiopathic dilated cardiomyopathy patients with and without a history of bronchial asthma at the time of idiopathic dilated cardiomyopathy diagnosis were similar. In multivariate analysis using the proportional hazards model, only ventricular arrhythmias and ejection fraction were found to be statistically significant predictors of survival in idiopathic dilated cardiomyopathy. The adjusted relative risk estimate for emphysema and chronic bronchitis was close to one. Thus, the results of this population-based study do not suggest that history of chronic respiratory illness is an independent predictor of survival in idiopathic dilated cardiomyopathy. PMID:8961693

  6. TEXTING WHILE DRIVING: EVALUATION OF GLANCE DISTRIBUTIONS FOR FREQUENT/INFREQUENT TEXTERS AND KEYPAD/TOUCHPAD TEXTERS

    PubMed Central

    Samuel, Siby; Pollatsek, Alexander; Fisher, Donald

    2012-01-01

    Summary The threat that cell-phones pose to driving has been a well researched topic. There are fewer studies of the threat that texting creates for drivers, but the risks are obvious and the few existing studies confirm this. What is not obvious is whether frequent texters will expose themselves to the same risks as infrequent texters. This is important to know because many texters, especially teens who text frequently, may consider themselves immune to the dangers of texting while driving. As such, a comparison of frequent and infrequent texters was undertaken on a driving simulator. It is also not immediately clear what effects the different types of interfaces have on driving performance while text messaging. The interfaces under evaluation included keypad or “qwerty” phones (e.g., Blackberries) and touchpad phones (iPhone). It was found that the frequent and infrequent texters were equally likely to glance at least once for more than 2s inside the vehicle while sending a text message. It was also found that touchpad texters had a larger number of glances above the 2s threshold than keypad users, though this difference was not significant. The implications of this for future public policy are discussed. PMID:25279388

  7. Infrequent or non-response to oral sumatriptan does not predict response to other triptans--review of four trials.

    PubMed

    Dahlöf, C G H

    2006-02-01

    A migraineur can claim to be an infrequent responder ('non-responder') to an oral triptan independent of which triptan he or she is presently using. Four trials of an alternative triptan (zolmitriptan/rizatriptan; eletriptan; naratriptan; almotriptan) in patients with a history of infrequent response to oral sumatriptan were compared and contrasted in terms of study design, patient characteristics, and efficacy and tolerability of the triptan under investigation. Unfortunately, none of the reported studies used an appropriate parallel design, which would have had the non-responding triptan (oral sumatriptan) in one arm and without encapsulation. While the four trials differed in terms of study design (open-label vs. placebo-controlled), definition of sumatriptan 'non-responder' (retrospective vs. prospective) and pain intensity at baseline (30% severe to 70% severe), all four demonstrated that lack of response to sumatriptan did not predict lack of response to an alternative triptan. Changing triptans resulted in 2-h pain-relief rates of 25-81% in patients with a history of poor response to sumatriptan. It can be concluded that migraine patients who respond infrequently to sumatriptan should be switched to a different triptan, as lack of response to one triptan does not predict likelihood of responsiveness to another. A review of the available evidence suggests that almotriptan may be one of the most appropriate choices for an alternative triptan. PMID:16426262

  8. [Left ventricular hypertrophy in the cat - "when hypertrophic cardiomyopathy is not hypertrophic cardiomyopathy"].

    PubMed

    Glaus, T; Wess, G

    2010-07-01

    According to WHO classification hypertrophic cardiomyopathy (HCM) is a primary genetic cardiomyopathy. Echocardiographically HCM is characterized by symmetric, asymmetric or focal left ventricular hypertrophy (LVH) without recognizable underlying physical cause. However, echocardiographically HCM in cats may not be distinguishable from other causes of a thick appearing left ventricle. Hypovolemia can look like a hypertrophied ventricle but is basically only pseudohypertrophic. Well recognized and logical physical causes of LVH include systemic hypertension and outflow obstruction. LVH similar to HCM may also be found in feline hyperthyroidism. The context of the disease helps to differentiate these physical / physiological causes of LVH. Difficult to distinguish from HCM, particularly when based on a snapshot of a single echocardiographic exam, are myocarditis and . Only the clinical and echocardiographic course allow a reasonably confident etiological diagnosis and the differentiation between HCM and secondary LVH. PMID:20582898

  9. [Ocra Method: development of a new procedure for analysis of multiple tasks subject to infrequent rotation].

    PubMed

    Occhipinti, E; Colombini, Daniela; Occhipinti, M

    2008-01-01

    In the Ocra methods (Ocra index and Ocra Checklist), when computing the final indices (Ocra index or checklist score), in the case of more than one repetitive task a "traditional" procedure was already proposed, the results of which could be defined as "time-weighted average". This approach appears to be appropriate when considering rotations among tasks that are performed very frequently, for instance almost once every hour (or for shorter periods). However, when rotation among repetitive tasks is less frequent (i.e. once every 1 1/2 or more hours), the "time-weighted average" approach could result in an underestimation of the exposure level (as it practically flattens peaks of high exposures). For those scenarios an alternative approach based on the "most stressful task as minimum" might be more realistic. This latter approach has already been included in the NIOSH approach for multiple sequential lifting tasks and, given the recent availability in the Ocra method of more detailed duration multipliers (practically one different Du(M) for each different step of one hour of duration of the repetitive task), it is now possible to define a particular procedure to compute the complex Ocra Multitask Index (cOCRA) and the complex Checklist Score (cCHESCO) for the analysis of two or more repetitive tasks when rotations are infrequent (rotations every 1 1/2 hours or more). The result of this approach will be at least equal to the index of the most stressful task considered for its individual daily duration and at the most equal to the index of the most stressful task when it is (only theoretically) considered as lasting for the overall daily duration of all examined repetitive tasks. The procedure is based on the following formula: Complex Ocra Multitask Index = Ocra(1(Dum1) + (Delta ocra1xK) where 1,2,3,...,N = repetitive tasks ordered by ocra index values (1 = highest; N = lowest) computed considering respective real duration multipliers (Dum(i)). ocra1 = ocra index of

  10. Takotsubo cardiomyopathy: A potentially serious trap (Data from the International Takotsubo Cardiomyopathy Registry)

    PubMed Central

    Wagdy, Kerolos; ElMaghawry, Mohamed

    2015-01-01

    Takotsubo cardiomyopathy (TTC) is an acute cardiac condition characterized by transient left ventricular dysfunction with wall motion abnormalities, most commonly in the form of apical ballooning. Despite being considered as a generally benign condition, many studies have emphasized potentially sinister outcomes associated with TTC. In this article, we review the most recent results of the International Takotsubo Registry, which investigated the clinical features, prognostic predictors, and outcomes of 1750 patients. PMID:26779527

  11. Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM)

    MedlinePlus

    Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) You must have Javascript enabled in your web browser. View Program Transcript Click Here to view the OR-Live, Inc. Privacy Policy ...

  12. Dietary Salt Exacerbates Isoproterenol-induced Cardiomyopathy in Rats

    EPA Science Inventory

    Spontaneously Hypertensive Heart Failure rats (SHHFs) take far longer to develop compensated heart failure and congestive decompensation than common surgical models of heart failure. Isoproterenol (ISO) infusion can accelerate cardiomyopathy in young SHHFs, while dietary salt loa...

  13. Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM)

    MedlinePlus

    Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) Click Here to view the BroadcastMed, Inc. Privacy Policy and Legal Notice © 2016 BroadcastMed, Inc. All rights reserved.

  14. X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

    PubMed Central

    Nakamura, Akinori

    2015-01-01

    X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder phenotype of skeletal muscle involvement compared to Duchenne muscular dystrophy (DMD) and sometimes present with dilated cardiomyopathy. The precise relationship between mutations in the DMD gene and cardiomyopathy remain unclear. However, some hypothetical mechanisms are being considered to be associated with the presence of some several dystrophin isoforms, certain reported mutations, and an unknown dystrophin-related pathophysiological mechanism. Recent therapy for Duchenne muscular dystrophy, the severe dystrophinopathy phenotype, appears promising, but the presence of XLDCM highlights the importance of focusing on cardiomyopathy while elucidating the pathomechanism and developing treatment. PMID:26066469

  15. Treatment of depression in an adolescent with cardiomyopathy and arrhythmia.

    PubMed

    Tanidir, Canan; Tanidir, Ibrahim C; Tuzcu, Volkan

    2015-10-01

    Patients with cardiomyopathy have a higher incidence of mood and anxiety disorders, resulting in greater probability for hospitalisation and increased risk for arrhythmia and death. We report a case of a 16-year-old boy with Danon disease, Wolff-Parkinson-White syndrome, and hypertrophic cardiomyopathy, who later developed depression and significant weight loss. The patient was successfully treated for his anxiety and depression with mirtazapine without any adverse cardiac effects. PMID:25400066

  16. Primary antiphospholipid syndrome, hypertrophic non-obstructive cardiomyopathy and hypotelorism.

    PubMed

    Kellermair, Joerg; Kammler, Juergen; Laubichler, Peter; Steinwender, Clemens

    2016-01-01

    Antiphospholipid syndrome (APS) is an autoimmune disorder associated with arterial/venous thrombosis. Cardiac manifestations of APS include valve stenosis/insufficiency, coronary artery disease and myocardial dysfunction presenting as dilated cardiomyopathy. In the following report, we present the case of a man with primary APS, hypertrophic non-obstructive cardiomyopathy and hypotelorism-a combination that has not yet been reported in the literature. PMID:27048398

  17. Tako-tsubo-like cardiomyopathy after EpiPen administration.

    PubMed

    Zubrinich, C M; Farouque, H M Omar; Rochford, S E; Sutherland, M F

    2008-11-01

    Tako-tsubo-like cardiomyopathy is characterized by acute chest pain, electrocardiographic changes and increased cardiac enzymes in the absence of obstructive coronary vessel disease. We describe the development of tako-tsubo-like cardiomyopathy in an elderly woman after the use of an EpiPen for generalized urticaria and angioedema. As adrenaline may participate in the pathogenesis of this condition, the need for careful patient selection and education in the use of adrenaline self-injectors remains imperative. PMID:19120537

  18. Doxorubicin cardiomyopathy in children with left-sided Wilms tumor

    SciTech Connect

    Pinkel, D.; Camitta, B.; Kun, L.; Howarth, C.; Tang, T.

    1982-01-01

    Two children with Wilms tumor of the left kidney experienced severe anthracycline cardiomyopathy after irradiation to the tumor bed and conventional dosage of doxorubicin. The cardiomyopathy is attributed 1) to the fact that radiation fields for left Wilms tumor include the lower portion of the heart and 2) to the interaction of doxorubicin and irradiation on cardiac muscle. It is recommended that doxorubicin dosage be sharply restricted in children with Wilms tumor of the left kidney who receive postoperative irradiation.

  19. Takotsubo cardiomyopathy: Pathophysiology, diagnosis and treatment

    PubMed Central

    Komamura, Kazuo; Fukui, Miho; Iwasaku, Toshihiro; Hirotani, Shinichi; Masuyama, Tohru

    2014-01-01

    In 1990, takotsubo cardiomyopathy (TCM) was first discovered and reported by a Japanese cardiovascular specialist. Since then, this heart disease has gained worldwide acceptance as an independent disease entity. TCM is an important entity that differs from acute myocardial infarction. It occurs more often in postmenopausal elderly women, is characterized by a transient hypokinesis of the left ventricular (LV) apex, and is associated with emotional or physical stress. Wall motion abnormality of the LV apex is generally transient and resolves within a few days to several weeks. Its prognosis is generally good. However, there are some reports of serious TCM complications, including hypotension, heart failure, ventricular rupture, thrombosis involving the LV apex, and torsade de pointes. It has been suggested that coronary spasm, coronary microvascular dysfunction, catecholamine toxicity and myocarditis might contribute to the pathogenesis of TCM. However, its pathophysiology is not clearly understood. PMID:25068020

  20. The Diagnosis and Evaluation of Dilated Cardiomyopathy.

    PubMed

    Japp, Alan G; Gulati, Ankur; Cook, Stuart A; Cowie, Martin R; Prasad, Sanjay K

    2016-06-28

    Dilated cardiomyopathy (DCM) is best understood as the final common response of myocardium to diverse genetic and environmental insults. A rigorous work-up can exclude alternative causes of left ventricular (LV) dilation and dysfunction, identify etiologies that may respond to specific treatments, and guide family screening. A significant proportion of DCM cases have an underlying genetic or inflammatory basis. Measurement of LV size and ejection fraction remain central to diagnosis, risk stratification, and treatment, but other aspects of cardiac remodeling inform prognosis and carry therapeutic implications. Assessment of myocardial fibrosis predicts both risk of sudden cardiac death and likelihood of LV functional recovery, and has significant potential to guide patient selection for cardioverter-defibrillator implantation. Detailed mitral valve assessment is likely to assume increasing importance with the emergence of percutaneous interventions for functional mitral regurgitation. Detection of pre-clinical DCM could substantially reduce morbidity and mortality by allowing early instigation of cardioprotective therapy. PMID:27339497

  1. Takotsubo cardiomyopathy – a clinical review

    PubMed Central

    Rivera, Ana María Castillo; Ruiz-Bailén, Manuel; Aguilar, Luis Rucabado

    2011-01-01

    Summary Stress cardiomyopathy is characterised by reversible left ventricular dysfunction. It simulates an acute coronary syndrome (ACS), presenting with precordial pain or dyspnoea, changes of the ST segment, T wave, or QTc interval on electrocardiogram, and raised cardiac enzymes. Typical findings are disturbances of segmental contractility (apical hypokinesia or akinesia), with normal epicardial coronary arteries. The true prevalence is unknown, as the syndrome may be under-diagnosed; it is more common in postmenopausal women. There is usually a trigger in the form of physical or psychological stress. The electrocardiographic, echocardiographic, and ventriculographic changes resolve spontaneously over a variable period of time (from days to months). There are a number of pathophysiological theories, none of which has been shown to be definitive, suggesting that all of them may be involved to some extent. The prognosis is generally favourable, and recurrence is very rare. PMID:21629203

  2. Genetics of Human and Canine Dilated Cardiomyopathy

    PubMed Central

    Simpson, Siobhan; Edwards, Jennifer; Ferguson-Mignan, Thomas F. N.; Cobb, Malcolm; Mongan, Nigel P.; Rutland, Catrin S.

    2015-01-01

    Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed. PMID:26266250

  3. Peripartum cardiomyopathy: current knowledge and future directions.

    PubMed

    Davis, Melinda; Duvernoy, Claire

    2015-07-01

    Peripartum cardiomyopathy is a form of heart failure occurring at the end of pregnancy or early in the postpartum period. Women may recover, have persistent cardiac dysfunction or suffer complications and death. Women who are African-American, older, hypertensive or have multiple gestation pregnancies have increased risk. Diagnosis and treatment may be delayed due to similarities between symptoms of normal pregnancy and heart failure. Echocardiography is essential for the diagnosis, and B-type natriuretic peptide can be helpful. Treatment for systolic heart failure must be adjusted during pregnancy, and anticoagulation may be indicated. Even after recovery, subsequent pregnancy confers substantial risk of worsening heart failure. Further investigations into the etiology, duration of treatment and risks for relapse are needed. PMID:26245944

  4. CNS disease triggering Takotsubo stress cardiomyopathy.

    PubMed

    Finsterer, Josef; Wahbi, Karim

    2014-12-15

    There are a number of hereditary and non-hereditary central nervous system (CNS) disorders, which directly or indirectly affect the heart (brain-heart disorders). The most well-known of these CNS disorders are epilepsy, stroke, infectious or immunological encephalitis/meningitis, migraine, and traumatic brain injury. In addition, a number of hereditary and non-hereditary neurodegenerative disorders may impair cardiac functions. Affection of the heart may manifest not only as arrhythmias, myocardial infarction, autonomic impairment, systolic dysfunction/heart failure, arterial hypertension, or pulmonary hypertension, but also as stress cardiomyopathy (Takotsubo syndrome, TTS). CNS disease triggering TTS includes subarachnoid bleeding, epilepsy, ischemic stroke, intracerebral bleeding, migraine, encephalitis, traumatic brain injury, PRES syndrome, or ALS. Usually, TTS is acutely precipitated by stress triggered by various different events. TTS is one of the cardiac abnormalities most frequently induced by CNS disorders. Appropriate management of TTS from CNS disorders is essential to improve the outcome of affected patients. PMID:25213573

  5. Constrictive Pericarditis Versus Restrictive Cardiomyopathy?

    PubMed

    Garcia, Mario J

    2016-05-01

    About one-half of the patients with congestive heart failure have preserved left ventricular ejection fraction (HFpEF). Although the etiology of HFpEF is most commonly related to long-standing hypertension and atherosclerosis, a significant number of suspected HFpEF patients have a restrictive cardiomyopathy or chronic pericardial disease. Recognizing these syndromes is important because early diagnosis may lead to instituting specific therapy that may prolong survival, improve quality of life, and/or recognize and treat an underlying systemic disorder. Advances in diagnostic imaging, biomarkers, and genetic testing today allow identification of the specific etiology in most cases. Novel pharmacological, immunologic, and surgical therapies are leading to improved quality of life and survival. PMID:27126534

  6. Characterization of mitochondrial DNA in primary cardiomyopathies.

    PubMed

    Bobba, A; Giannattasio, S; Pucci, A; Lippolis, R; Camaschella, C; Marra, E

    1995-12-29

    With the aim of studying the involvement of the mitochondrial genome in the impairment of heart function, mitochondrial DNA was analyzed by modified primer shift-polymerase chain reaction in a panel of young patients affected by primary cardiomyopathies. Mitochondrial DNA molecules harboring the 7436 bp deletion were specifically found in cardiomyopathic patients as compared with a panel of control subjects. The 4977 bp deletion was commonly detected among the subjects analyzed whereas none of the specific tRNA gene point mutations generally associated with the cardiomyopathic trait were detected. The presence of the 7436 bp deletion as a consequence of a premature aging of the heart muscle, secondary to heart dysfunction, is discussed. PMID:8747493

  7. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?

    SciTech Connect

    Bird, L.M.; Krous, H.F.; Eichenfield, L.F.; Swalwell, C.I.; Jones, M.C.

    1994-11-01

    A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. 43 refs., 2 figs., 2 tabs.

  8. A predictive model for canine dilated cardiomyopathy-a meta-analysis of Doberman Pinscher data.

    PubMed

    Simpson, Siobhan; Edwards, Jennifer; Emes, Richard D; Cobb, Malcolm A; Mongan, Nigel P; Rutland, Catrin S

    2015-01-01

    Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundland breeds. Dilated cardiomyopathy is characterised by ventricular chamber enlargement and systolic dysfunction which often leads to congestive heart failure. Although multiple human loci have been implicated in the pathogenesis of dilated cardiomyopathy, the identified variants are typically associated with rare monogenic forms of dilated cardiomyopathy. The potential for multigenic interactions contributing to human dilated cardiomyopathy remains poorly understood. Consistent with this, several known human dilated cardiomyopathy loci have been excluded as common causes of canine dilated cardiomyopathy, although canine dilated cardiomyopathy resembles the human disease functionally. This suggests additional genetic factors contribute to the dilated cardiomyopathy phenotype.This study represents a meta-analysis of available canine dilated cardiomyopathy genetic datasets with the goal of determining potential multigenic interactions relating the sex chromosome genotype (XX vs. XY) with known dilated cardiomyopathy associated loci on chromosome 5 and the PDK4 gene in the incidence and progression of dilated cardiomyopathy. The results show an interaction between known canine dilated cardiomyopathy loci and an unknown X-linked locus. Our study is the first to test a multigenic contribution to dilated cardiomyopathy and suggest a genetic basis for the known sex-disparity in dilated cardiomyopathy outcomes. PMID:25834770

  9. Indium-doped ZnO nanowires with infrequent growth orientation, rough surfaces and low-density surface traps

    PubMed Central

    2013-01-01

    Indium-doped ZnO nanowires have been prepared by vapor transport deposition. With increasing In content, the growth orientation of the nanowires switches from [101_0] to infrequent [022_3] and the surface becomes rough. No surface-related exciton emission is observed in these nanowires. The results indicate that large surface-to-volume ratio, high free electron concentration, and low density of surface traps can be achieved simultaneously in ZnO nanowires via In doping. These unique properties make In-doped ZnO nanowire a potential material for photocatalysis application, which is demonstrated by the enhanced photocatalytic degradation of Rhodamine B. PMID:24256997

  10. MR Imaging in Hypertrophic Cardiomyopathy: From Magnet to Bedside.

    PubMed

    Bogaert, Jan; Olivotto, Iacopo

    2014-11-01

    Hypertrophic cardiomyopathy ( HCM hypertrophic cardiomyopathy ), the most common genetically transmitted cardiac disorder, has been the focus of extensive research over the past 50 years. HCM hypertrophic cardiomyopathy is a multifaceted disease with highly heterogeneous genetic background, phenotypic expression, clinical presentation, and long-term outcome. Though most patients have an indolent course with a life expectancy comparable to that of the general population, early diagnosis and accurate risk profiling are essential to identify the sizeable subset at increased risk of sudden cardiac death or disease progression and heart failure-related complications, requiring aggressive management options. Imaging has a central role in the diagnosis and prognostic assessment of HCM hypertrophic cardiomyopathy patients, as well as screening of potentially affected family members. In this context, magnetic resonance (MR) imaging has recently emerged as an ideal complement to transthoracic echocardiography. Its multiparametric approach, fusing spatial, contrast, and temporal resolution, provides the clinician with detailed characterization of the HCM hypertrophic cardiomyopathy phenotype and assessment of its functional consequences including causes and site of dynamic obstruction, presence and extent of myocardial perfusion abnormalities, and fibrosis. Moreover, MR is key in differentiating HCM hypertrophic cardiomyopathy from "phenocopies"-that is, hearts with similar morphology but profoundly different etiology, such as amyloid or Anderson-Fabry disease. Long term, the incremental information provided by MR is relevant to planning of septal reduction therapies, identification of the early stages of end-stage progression, and stratification of arrhythmic risk. The aim of this review is to depict the increasingly important role of MR imaging in relation to the complexity of HCM hypertrophic cardiomyopathy , highlighting its role in clinical decision making. PMID:25340269

  11. A rare form of cardiomyopathy: left ventricular non-compaction cardiomyopathy

    PubMed Central

    Goud, Aditya; Padmanabhan, Sriram

    2016-01-01

    Left ventricular non-compaction is a recently recognized, rare form of cardiomyopathy. It is based on the arrest of endomyocardial morphogenesis during embryogenesis. It was first described in 1984 by Engberding who described it as isolated ‘sinusoids’ within the LV. Right now its prevalence is estimated at 0.014 to 1.3 and 3–4% in heart failure patients. Its clinical manifestations are highly variable, ranging from no symptoms to disabling congestive heart failure, arrhythmias, and systemic thromboemboli. Doppler Echocardiogram is considered the diagnostic procedure of choice and treatment is symptomatic management of its symptoms and complications. PMID:26908378

  12. Arrhythmogenic right ventricular cardiomyopathy/dysplasia.

    PubMed

    Thiene, Gaetano; Corrado, Domenico; Basso, Cristina

    2007-01-01

    Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The causative genes encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodeling. Familiar occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been proven. Recessive variants associated with palmoplantar keratoderma and woolly hair have been also reported. Clinical diagnosis may be achieved by demonstrating functional and structural alterations of the right ventricle, depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block morphology and fibro-fatty replacement through endomyocardial biopsy. Two dimensional echo, angiography and magnetic resonance are the imaging tools for visualizing structural-functional abnormalities. Electroanatomic mapping is able to detect areas of low voltage corresponding to myocardial atrophy with fibro-fatty replacement. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dialted cardiomyopathy and sarcoidosis. Only palliative therapy is available and consists of antiarrhythmic drugs, catheter ablation and

  13. Takotsubo cardiomyopathy after a dancing session: a case report

    PubMed Central

    2011-01-01

    Introduction Stress-induced (Takotsubo) cardiomyopathy is a rare form of cardiomyopathy which presents in a manner similar to that of acute coronary syndrome. This sometimes leads to unnecessary thrombolysis therapy. The pathogenesis of this disease is still poorly understood. We believe that reporting all cases of Takotsubo cardiomyopathy will contribute to a better understanding of this disease. Here, we report a patient who, in the absence of any recent stressful events in her life, developed the disease after a session of dancing. Case presentation A 69-year-old Caucasian woman presented with features suggestive of acute coronary syndrome shortly after a session of dancing. Echocardiography and a coronary angiogram showed typical features of Takotsubo cardiomyopathy and our patient was treated accordingly. Eight weeks later, her condition resolved completely and the results of echocardiography were totally normal. Conclusions Takotsubo cardiomyopathy, though transient, is a rare and serious condition. Although it is commonly precipitated by stressful life events, these are not necessarily present. Our patient was enjoying one of her hobbies (that is, dancing) when she developed the disease. This case has particular interest in medicine, especially for the specialties of cardiology and emergency medicine. We hope that it will add more information to the literature about this rare condition. PMID:22040382

  14. Genetic advances in sarcomeric cardiomyopathies: state of the art

    PubMed Central

    Ho, Carolyn Y.; Charron, Philippe; Richard, Pascale; Girolami, Francesca; Van Spaendonck-Zwarts, Karin Y.; Pinto, Yigal

    2015-01-01

    Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also likely play a role in more complex phenotypes and overlap cardiomyopathies with features of hypertrophy, dilation, diastolic abnormalities, and non-compaction. Identification of the genetic cause of these important conditions provides unique opportunities to interrogate and characterize disease pathogenesis and pathophysiology, starting from the molecular level and expanding from there. With such insights, there is potential for clinical translation that may transform management of patients and families with inherited cardiomyopathies. If key pathways for disease development can be identified, they could potentially serve as targets for novel disease-modifying or disease-preventing therapies. By utilizing gene-based diagnostic testing, we can identify at-risk individuals prior to the onset of clinical disease, allowing for disease-modifying therapy to be initiated early in life, at a time that such treatment may be most successful. In this section, we review the current application of genetics in clinical management, focusing on hypertrophic cardiomyopathy as a paradigm; discuss state-of-the-art genetic testing technology; review emerging knowledge of gene expression in sarcomeric cardiomyopathies; and discuss both the prospects, as well as the challenges, of bringing genetics to medicine. PMID:25634555

  15. Dilated cardiomyopathy secondary to chronic cocaine abuse: a case report

    PubMed Central

    2013-01-01

    Background Cocaine is a potent sympathomimetic agent associated with the development of possible fatal cardiovascular complications. Dysrhythmias, acute myocardial infarction, hypertension and dilated cardiomyopathy are just some of many cardiovascular effects related to the abuse of cocaine. Case presentation A 38-year-old Hispanic male with a past medical history of hypertension presented with a chief complaint of progressive shortness of breath. The patient confessed to the use of cocaine for almost 18 years once per week. On examination he was hypertensive and tachycardic with a systolic murmur over the 5th intercostal space at the level of the left mid-clavicular line. Laboratory workup revealed an elevated Brain natriuretic peptide; urine toxicology was positive for cocaine. 2D-echocardiogram showed dilated cardiomyopathy. Cardiac catheterization excluded angioischemic cause. He was managed medically and subsequently discharged with drug rehabilitation. On follow-up diagnostic evaluation after 5 months of cocaine cessation, his ejection function improved significantly. Conclusion The exact incidence of cocaine related cardiomyopathy is unknown and likely underreported. The clinical course is abrupt and comparatively similar to other types of cardiomyopathy. The management is like other forms of cardiomyopathy; however β-blockers should be avoided. The myocardial dysfunction is reversible with abstaining from additional cocaine ingestion. Non-invasive testing should be performed after several months to re-evaluate the treatment response. PMID:24341463

  16. The Use of Fluoxetine in a Patient With Takotsubo Cardiomyopathy.

    PubMed

    Conrad, Suki K; Catalano, Maria C; Catalano, Glenn

    2016-05-01

    Takotsubo cardiomyopathy is an acute coronary syndrome that is believed to be brought on by stress. Symptoms, which are similar to an acute myocardial infarction, include chest pain, shortness of breath, arrhythmias, and cardiogenic shock, and the electrocardiogram often shows ST and T wave changes. Left ventricular wall hypokinesis along with a significantly reduced ejection fraction are seen on echocardiogram. The great majority of these symptoms all occur in the absence of occlusive disease. Many cases have been reported in which the development of takotsubo cardiomyopathy was associated with serotonin norepinephrine reuptake inhibitors and tricyclic antidepressants. However, no cases of takotsubo cardiomyopathy have been reported involving selective serotonin reuptake inhibitors. This article presents the case of a 51-year-old woman receiving stable therapy with fluoxetine who developed takotsubo cardiomyopathy after an acute stress. We also discuss the clinical presentation of takotsubo cardiomyopathy, review possible causes, and discuss the treatment of depressive symptoms in patients who are at increased risk of developing this illness. PMID:27123803

  17. Targeting caveolin-3 for the treatment of diabetic cardiomyopathy.

    PubMed

    Murfitt, Lucy; Whiteley, Gareth; Iqbal, Mohammad M; Kitmitto, Ashraf

    2015-07-01

    Diabetes is a global health problem with more than 550 million people predicted to be diabetic by 2030. A major complication of diabetes is cardiovascular disease, which accounts for over two-thirds of mortality and morbidity in diabetic patients. This increased risk has led to the definition of a diabetic cardiomyopathy phenotype characterised by early left ventricular dysfunction with normal ejection fraction. Here we review the aetiology of diabetic cardiomyopathy and explore the involvement of the protein caveolin-3 (Cav3). Cav3 forms part of a complex mechanism regulating insulin signalling and glucose uptake, processes that are impaired in diabetes. Further, Cav3 is key for stabilisation and trafficking of cardiac ion channels to the plasma membrane and so contributes to the cardiac action potential shape and duration. In addition, Cav3 has direct and indirect interactions with proteins involved in excitation-contraction coupling and so has the potential to influence cardiac contractility. Significantly, both impaired contractility and rhythm disturbances are hallmarks of diabetic cardiomyopathy. We review here how changes to Cav3 expression levels and altered relationships with interacting partners may be contributory factors to several of the pathological features identified in diabetic cardiomyopathy. Finally, the review concludes by considering ways in which levels of Cav3 may be manipulated in order to develop novel therapeutic approaches for treating diabetic cardiomyopathy. PMID:25779609

  18. Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

    PubMed Central

    Piluso, G; Aurino, S; Cacciottolo, M; Del Vecchio Blanco, F; Lancioni, A; Rotundo, IL; Torella, A; Nigro, V

    2010-01-01

    Summary A second genetic revolution is approaching thanks to next-generation DNA sequencing technologies. In the next few years, the 1,000$-genome sequencing promises to reveal every individual variation of DNA. There is, however, a major problem: the identification of thousands of nucleotide changes per individual with uncertain pathological meaning. This is also an ethical issue. In the middle, there is today the possibility to address the sequencing analysis of genetically heterogeneous disorders to selected groups of genes with defined mutation types. This will be cost-effective and safer. We assembled an easy-to manage overview of most Mendelian genes involved in myopathies, cardiomyopathies, and neuromyopathies. This was entirely put together using a number of open access web resources that are listed below. During this effort we realized that there are unexpected countless sources of data, but the confusion is huge. In some cases, we got lost in the validation of disease genes and in the difficulty to discriminate between polymorphisms and disease-causing alleles. In the table are the annotated genes, their associated disorders, genomic, mRNA and coding sizes. We also counted the number of pathological alleles so far reported and the percentage of single nucleotide mutations. PMID:22029103

  19. Treatment of hypertrophic obstructive cardiomyopathy with verapamil.

    PubMed Central

    Kaltenbach, M; Hopf, R; Kober, G; Bussmann, W D; Keller, M; Petersen, Y

    1979-01-01

    Twenty-two patients with hypertrophic obstructive cardiomyopathy were treated with the calcium inhibitor, verapamil, which was administered in a mean oral dose of 480 mg per day. After an average of 15 months of treatment (4 to 24 months), the QRS amplitude in the electrocardiogram was significantly reduced from 4.2 to 3.8 mV. Heart volume calculated from chest x-ray films in the supine position decreased significantly from 858 to 766 ml per 1.73 m2. In 10 patients, follow-up heart catheterisation showed a decrease in left ventricular muscle mass in 7 patients and a slight increase in 3 patients. Coronary artery diameter decreased in 7 patients, increased in 1, and was unchanged in 2. The reduction in coronary artery diameter is considered to be a consequence of a reduced heart muscle mass. From all available clinical data it is concluded that verapamil treatment is superior to beta-blocker therapy. Images PMID:573129

  20. Management of arrhythmogenic right ventricular cardiomyopathy.

    PubMed

    Silvano, Maria; Mastella, Giulio; Zorzi, Alessandro; Migliore, Federico; Pilichou, Kalliopi; Bauce, Barbara; Rigato, Ilaria; Perazzolo Marra, Martina; Iliceto, Sabino; Thiene, Gaetano; Basso, Cristina; Corrado, Domenico

    2016-08-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder, predisposing to sudden cardiac death (SCD), particularly in young patients and athletes. Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; a biventricular involvement is often observed. The diagnosis of ARVC (prevalence 1:5.000 in the general population) does not rely on a single gold standard test but is achieved using a scoring system, proposed in 2010 by an International Task Force, which encompasses familial and genetic factors, ECG abnormalities, arrhythmias, and structural/functional ventricular alterations. The main goal of treatment is the prevention of SCD. Implantable cardioverter defibrillator (ICD) is the only proven "lifesaving" therapy; however, it is associated with a significant morbidity due to device-related complications and inappropriate ICD interventions. Other treatment options such as life style changes, antiarrhythmic drugs, beta-blockers and catheter ablation may reduce the arrhythmic burden and alleviate symptoms, without evident impact on prevention of SCD. Selection of patient candidates to ICD implantation is the most challenging issue in the clinical management of ARVC. This article reviews the current perspective on management of ARVC, focusing on clinical manifestations, diagnostic criteria, risk stratification and therapeutic strategies of affected patients. PMID:27186923

  1. Peripartum cardiomyopathy: A puzzle closer to solution

    PubMed Central

    Fett, James D

    2014-01-01

    Peripartum cardiomyopathy (PPCM) represents new heart failure in a previously heart-healthy peripartum patient. It is necessary to rule out all other known causes of heart failure before accepting a diagnosis of PPCM. The modern era for PPCM in the United States and beyond began with the report of the National Institutes of Health PPCM Workshop in 2000, clarifying all then-currently known aspects of the disease. Since then, hundreds of publications have appeared, an indication of how devastating this disease can be to young mothers and their families and the urgent desire to find solutions for its cause and better treatment. The purpose of this review is to highlight the important advances that have brought us nearer to the solution of this puzzle, focusing on what we have learned about PPCM since 2000; and what still remains unanswered. Despite many improvements in outcome, we still do not know the actual triggers that initiate the pathological process; but realize that cardiac angiogenic imbalances resulting from complex pregnancy-related immune system and hormonal changes play a key role. PMID:24669290

  2. Prooxidant Mechanisms in Iron Overload Cardiomyopathy

    PubMed Central

    Cheng, Ching-Feng; Lian, Wei-Shiung

    2013-01-01

    Iron overload cardiomyopathy (IOC), defined as the presence of systolic or diastolic cardiac dysfunction secondary to increased deposition of iron, is emerging as an important cause of heart failure due to the increased incidence of this disorder seen in thalassemic patients and in patients of primary hemochromatosis. At present, although palliative treatment by regular iron chelation was recommended; whereas IOC is still the major cause for mortality in patient with chronic heart failure induced by iron-overloading. Because iron is a prooxidant and the associated mechanism seen in iron-overload heart is still unclear; therefore, we intend to delineate the multiple signaling pathways involved in IOC. These pathways may include organelles such as calcium channels, mitochondria; paracrine effects from both macrophages and fibroblast, and novel mediators such as thromboxane A2 and adiponectin; with increased oxidative stress and inflammation found commonly in these signaling pathways. With further understanding on these complex and inter-related molecular mechanisms, we can propose potential therapeutic strategies to ameliorate the cardiac toxicity induced by iron-overloading. PMID:24350287

  3. Prooxidant mechanisms in iron overload cardiomyopathy.

    PubMed

    Cheng, Ching-Feng; Lian, Wei-Shiung

    2013-01-01

    Iron overload cardiomyopathy (IOC), defined as the presence of systolic or diastolic cardiac dysfunction secondary to increased deposition of iron, is emerging as an important cause of heart failure due to the increased incidence of this disorder seen in thalassemic patients and in patients of primary hemochromatosis. At present, although palliative treatment by regular iron chelation was recommended; whereas IOC is still the major cause for mortality in patient with chronic heart failure induced by iron-overloading. Because iron is a prooxidant and the associated mechanism seen in iron-overload heart is still unclear; therefore, we intend to delineate the multiple signaling pathways involved in IOC. These pathways may include organelles such as calcium channels, mitochondria; paracrine effects from both macrophages and fibroblast, and novel mediators such as thromboxane A2 and adiponectin; with increased oxidative stress and inflammation found commonly in these signaling pathways. With further understanding on these complex and inter-related molecular mechanisms, we can propose potential therapeutic strategies to ameliorate the cardiac toxicity induced by iron-overloading. PMID:24350287

  4. Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy.

    PubMed

    Ng, Dianna; Bouhlal, Yosr; Ursell, Philip C; Shieh, Joseph T C

    2013-06-01

    Occasionally "identical twins" are phenotypically different, raising the question of zygosity and the issue of genetic versus environmental influences during development. We recently noted monochorionic-monoamniotic twins, one of which had an isolated cardiac abnormality, noncompaction cardiomyopathy, a condition characterized by cardiac ventricular hypertrabeculation. We examined the prenatal course and subsequent pathologic correlation since ventricular morphogenesis may depend on early muscular contraction and blood flow. The monochorionic-monoamniotic female twin pair was initially identified since one fetus presented with increased nuchal translucency. Complete heart block was later identified in the fetus with nuchal translucency who did not survive after delivery. In contrast, the unaffected twin had normal cardiac studies both prenatally and postnatally. Pathologic analysis of the affected twin demonstrated noncompaction of the left ventricle with dysplasia of the aortic and pulmonary valves. Dissection of the cardiac conduction system disclosed atrioventricular bundle fibrosis. Maternal lupus studies, amniocentesis with karyotype, and studies for 22q11.2 were normal. To test for zygosity, we performed multiple STR marker analysis and found that all markers were shared even using nonblood tissues from the affected twin. These studies demonstrate that monozygotic twins that are monochorionic monoamniotic can be discordant for cardiac noncompaction. The results suggest further investigation into the potential roles of pathologic fibrosis, contractility, and blood flow in cardiac ventricle development. PMID:23636980

  5. The embryological basis of subclinical hypertrophic cardiomyopathy.

    PubMed

    Captur, Gabriella; Ho, Carolyn Y; Schlossarek, Saskia; Kerwin, Janet; Mirabel, Mariana; Wilson, Robert; Rosmini, Stefania; Obianyo, Chinwe; Reant, Patricia; Bassett, Paul; Cook, Andrew C; Lindsay, Susan; McKenna, William J; Mills, Kevin; Elliott, Perry M; Mohun, Timothy J; Carrier, Lucie; Moon, James C

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth. By contrast, HO and HET embryos had increased crypt presence, abnormal mitral valve formation and alterations in the compaction process. In scarce normal human embryos, crypts were sometimes present. This study shows that features of the human pre-hypertrophic HCM phenotype occur in the mouse. In an animal model we demonstrate that there is an embryological HCM phenotype. Crypts are a normal part of cardiac development but, along with the mitral valve and trabeculae, their developmental trajectory is altered by the presence of HCM truncating Mybpc3 gene mutation. PMID:27323879

  6. The embryological basis of subclinical hypertrophic cardiomyopathy

    PubMed Central

    Captur, Gabriella; Ho, Carolyn Y.; Schlossarek, Saskia; Kerwin, Janet; Mirabel, Mariana; Wilson, Robert; Rosmini, Stefania; Obianyo, Chinwe; Reant, Patricia; Bassett, Paul; Cook, Andrew C.; Lindsay, Susan; McKenna, William J.; Mills, Kevin; Elliott, Perry M.; Mohun, Timothy J.; Carrier, Lucie; Moon, James C.

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth. By contrast, HO and HET embryos had increased crypt presence, abnormal mitral valve formation and alterations in the compaction process. In scarce normal human embryos, crypts were sometimes present. This study shows that features of the human pre-hypertrophic HCM phenotype occur in the mouse. In an animal model we demonstrate that there is an embryological HCM phenotype. Crypts are a normal part of cardiac development but, along with the mitral valve and trabeculae, their developmental trajectory is altered by the presence of HCM truncating Mybpc3 gene mutation. PMID:27323879

  7. Current therapeutic concepts in peripartum cardiomyopathy.

    PubMed

    Krejci, Jan; Poloczkova, Hana; Nemec, Petr

    2015-01-01

    Peripartum cardiomyopathy (PPCM) is a relatively rare disease characterized by systolic heart failure occuring towards the end of pregnancy or during the months following birth. It is most often seen in women of African descent, and its incidence seems to be slightly increasing in recent years. Other etiologies of heart failure should be excluded to determine the diagnosis of PPCM. The clinical picture corresponds to systolic heart failure. The rapid onset of the symptoms in relation to pregnancy is striking. The essential diagnostic procedures such as echocardiography, cardiac magnetic resonance imaging and endomyocardial biopsy may be beneficial in certain situations. The etiology of the disease remains unclear. Speculated causes include myocarditis, autoimmune disorders, cardiotropic virus infection, and abnormal responses to hemodynamic and hormonal changes during pregnancy. Particular attention is currently given to the concept of increased oxidative stress inducing production of proapoptotic, angiostatic and proinflammatory mediators. Recovery of left ventricular systolic function occurs in about half of the cases. Mortality has been decreasing in recent years, especially in the United States, but is still between 10-15% in less developed countries where therapeutic possibilities are limited. In addition to standard heart failure therapy, specific treatments (pentoxyfilline, bromocriptine, immunomodulatory therapy) have been tested. Mechanical circulatory support is sometimes needed. Heart transplantation is the therapeutic option for the most severe heart failure and is used in about 10% of the cases. Recurrence in subsequent pregnancy is common and therefore, another pregnancy is not recommended in many cases. PMID:25483952

  8. In-hospital and long-term mortality in Takotsubo cardiomyopathy: a community hospital experience

    PubMed Central

    Vriz, Olga; Brosolo, Gabriele; Martina, Stefano; Pertoldi, Franco; Citro, Rodolfo; Mos, Lucio; Ferrara, Francesco; Bossone, Eduardo

    2016-01-01

    Background Takotsubo cardiomyopathy (TTC) is characterized by reversible left ventricular dysfunction, frequently precipitated by a stressful event. Despite the favorable course and good long-term prognosis, a variety of complications may occur in the acute phase of the disease. The aim of this study was to evaluate the in-hospital and long-term outcomes of a cohort of TTC patients. Methods Fifty-five patients (mean age 68.1±12 years) were prospectively followed for a mean of 69.6±32.2 months (64,635 days). In-hospital (death, heart failure, arrhythmias) and long-term events (death and recurrences) were recorded. Results Patients were predominantly women (87.3%) who experienced a recent stressful event (emotional or physical) and were admitted to hospital for chest pain. Eleven patients (20%) had a diagnosis of depressive disorder, and arterial hypertension was the most frequent cardiovascular risk factor. The ECG revealed ST-segment elevation in 43.6% of patients. At angiography, seven cases (12.7%) had at least one significant (≥50%) coronary artery stenosis and four patients (7.3%) had myocardial bridging of the left anterior descending artery. During hospitalization, three patients died (one from cardiac causes) and cardiovascular complications occurred in 12 patients. During follow-up, five patients died (none from cardiac causes), six patients had recurrences within the first year. Two patients had two recurrences: one after 114 days, triggered by an asthma attack as the first event, and the other after 1,850 days. Conclusions In TTC patients, in-hospital and long-term mortality is primarily due to non-cardiovascular causes. Recurrences are not infrequent and coronary artery disease is not an uncommon finding. PMID:27406446

  9. Familial spontaneous complete heart block in hypertrophic cardiomyopathy.

    PubMed Central

    Louie, E K; Maron, B J

    1986-01-01

    Two siblings with hypertrophic cardiomyopathy developed spontaneous complete heart block requiring permanent pacemaker implantation at similar ages (29 and 33 years). The clinical, morphological, and haemodynamic expressions of hypertrophic cardiomyopathy differed considerably in these two patients. The sister had severe functional limitation due to dyspnoea, pronounced and diffuse left ventricular hypertrophy (maximum ventricular septal thickness of 41 mm), and left ventricular outflow obstruction (peak subaortic gradient of 75 mm Hg under basal conditions). In contrast the brother was symptom free, had only modest left ventricular hypertrophy which was confined to the anterior ventricular septum (maximal thickness of 16 mm), and had no echocardiographic evidence of subaortic obstruction. These dissimilar findings in siblings with hypertrophic cardiomyopathy suggest that the predisposition to develop complete heart block was probably genetically transmitted, although it was unrelated to the phenotypic and clinical expression of the disease. Images Fig. 2 Fig. 3 PMID:3707787

  10. Transient Reverse Takotsubo Cardiomyopathy Following a Spider Bite in Greece

    PubMed Central

    Alexakis, Lykourgos-Christos; Arapi, Sophia; Stefanou, Ioannis; Gargalianos, Panagiotis; Astriti, Myrto

    2015-01-01

    Abstract Black widow spider is endemic in the Mediterranean area and although envenomations are rare, may occasionally lead to death. We present a case of a 64-year-old female developing a rare variant of takotsubo, stress-induced, cardiomyopathy after a spider bite. This resulted in acute heart failure within 24 hours of the bite. With medical treatment and supportive care, the patient's clinical condition improved. Reverse takotsubo cardiomyopathy was diagnosed by echocardiography, which was transient. Clinical and echocardiographic findings have been completely resolved on follow-up 46 days later. Reverse takotsubo cardiomyopathy has not been yet described following a spider bite. Doctors in the emergency department of endemic countries should be familiar with this potential complication. PMID:25654384

  11. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal.

    PubMed

    Peng, Teng J; Patchett, Nicholas D; Bernard, Sheilah A

    2016-01-01

    We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 mg of midazolam and within minutes had resolution of catatonic symptoms. Careful history revealed that she had omitted her daily dose of lorazepam for 3 days prior to admission. To our knowledge, the case presented herein is the first report of simultaneous catatonia and takotsubo cardiomyopathy in the setting of benzodiazepine withdrawal. The pathogenesis of both conditions is poorly understood but may be indirectly related to the sudden decrease in γ-aminobutyric acid (GABA) signaling during benzodiazepine withdrawal. PMID:27547472

  12. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal

    PubMed Central

    Peng, Teng J.

    2016-01-01

    We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 mg of midazolam and within minutes had resolution of catatonic symptoms. Careful history revealed that she had omitted her daily dose of lorazepam for 3 days prior to admission. To our knowledge, the case presented herein is the first report of simultaneous catatonia and takotsubo cardiomyopathy in the setting of benzodiazepine withdrawal. The pathogenesis of both conditions is poorly understood but may be indirectly related to the sudden decrease in γ-aminobutyric acid (GABA) signaling during benzodiazepine withdrawal. PMID:27547472

  13. Rare case of stress cardiomyopathy due to intramuscular epinephrine administration.

    PubMed

    Nazir, Salik; Melnick, Stephen; Lohani, Saroj; Lloyd, Benjamin

    2016-01-01

    We report a case of a 37-year-old woman who presented to our hospital with retrosternal chest pain following intramuscular administration of epinephrine due to presumed anaphylaxis. On arrival, she was found to have ST segment depression in the anterolateral leads on ECG and elevated cardiac troponins. She was diagnosed with stress cardiomyopathy based on left ventricle dysfunction and angiographically normal coronary arteries on cardiac catheterisation. To the best of our knowledge, this is the third reported case of takotsubo cardiomyopathy following appropriately dosed intramuscular administration of epinephrine for anaphylaxis. This case highlights the importance of considering stress cardiomyopathy in patients presenting with chest pain syndrome following systemic administration of epinephrine. PMID:27268785

  14. Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies

    PubMed Central

    Lipshultz, Steven E; Cochran, Thomas R; Briston, David A; Brown, Stefanie R; Sambatakos, Peter J; Miller, Tracie L; Carrillo, Adriana A; Corcia, Liat; Sanchez, Janine E; Diamond, Melissa B; Freundlich, Michael; Harake, Danielle; Gayle, Tamara; Harmon, William G; Rusconi, Paolo G; Sandhu, Satinder K; Wilkinson, James D

    2013-01-01

    Pediatric cardiomyopathies, which are rare but serious disorders of the muscles of the heart, affect at least one in every 100,000 children in the USA. Approximately 40% of children with symptomatic cardiomyopathy undergo heart transplantation or die from cardiac complications within 2 years. However, a significant number of children suffering from cardiomyopathy are surviving into adulthood, making it an important chronic illness for both pediatric and adult clinicians to understand. The natural history, risk factors, prevalence and incidence of this pediatric condition were not fully understood before the 1990s. Questions regarding optimal diagnostic, prognostic and treatment methods remain. Children require long-term follow-up into adulthood in order to identify the factors associated with best clinical practice including diagnostic approaches, as well as optimal treatment approaches. In this article, we comprehensively review current research on various presentations of this disease, along with current knowledge about their causes, treatments and clinical outcomes. PMID:24180540

  15. Defective insulin signaling and mitochondrial dynamics in diabetic cardiomyopathy

    PubMed Central

    Westermeier, Francisco; Navarro-Marquez, Mario; López-Crisosto, Camila; Bravo-Sagua, Roberto; Quiroga, Clara; Bustamante, Mario; Verdejo, Hugo E.; Zalaquett, Ricardo; Ibacache, Mauricio; Parra, Valentina; Castro, Pablo F.; Rothermel, Beverly A.; Hill, Joseph A.; Lavandero, Sergio

    2015-01-01

    Diabetic cardiomyopathy (DCM) is a common consequence of longstanding type 2 diabetes mellitus (T2DM) and encompasses structural, morphological, functional, and metabolic abnormalities in the heart. Myocardial energy metabolism depends on mitochondria, which must generate sufficient ATP to meet the high energy demands of the myocardium. Dysfunctional mitochondria are involved in the pathophysiology of diabetic heart disease. A large body of evidence implicates myocardial insulin resistance in the pathogenesis of DCM. Recent studies show that insulin signaling influences myocardial energy metabolism by impacting cardiomyocyte mitochondrial dynamics and function under physiological conditions. However, comprehensive understanding of molecular mechanisms linking insulin signaling and changes in the architecture of the mitochondrial network in diabetic cardiomyopathy is lacking. This review summarizes our current understanding of how defective insulin signaling impacts cardiac function in diabetic cardiomyopathy and discusses the potential role of mitochondrial dynamics. PMID:25686534

  16. Diagnostic approaches for diabetic cardiomyopathy and myocardial fibrosis

    PubMed Central

    Maya, Lisandro; Villarreal, Francisco J.

    2009-01-01

    In diabetes mellitus, alterations in cardiac structure/function in the absence of ischemic heart disease, hypertension or other cardiac pathologies is termed diabetic cardiomyopathy. In the United States, the prevalence of diabetes mellitus continues to rise and the disease currently affects about 8% of the general population. Hence, it is imperative the use of appropriate diagnostic strategies for diabetic cardiomyopathy, which may help correctly identify the disease at early stages and implement suitable corrective therapies. Currently, there is no single diagnostic method for the identification of diabetic cardiomyopathy. Diabetic cardiomyopathy is known to induce changes in cardiac structure such as, myocardial hypertrophy, fibrosis and fat droplet deposition. Early changes in cardiac function are typically manifested as abnormal diastolic function that with time leads to loss of contractile function. Echocardiography based methods currently stands as the preferred diagnostic approach for diabetic cardiomyopathy, due to its wide availability and economical use. In addition to conventional techniques, magnetic resonance imaging and spectroscopy along with contrast agents are now leading new approaches in the diagnosis of myocardial fibrosis, and cardiac and hepatic metabolic changes. These strategies can be complemented with serum biomarkers so they can offer a clear picture as to diabetes-induced changes in cardiac structure/function even at very early stages of the disease. This review article intends to provide a summary of experimental and routine tools currently available to diagnose diabetic cardiomyopathy induced changes in cardiac structure/function. These tools can be reliably used in either experimental models of diabetes or for clinical applications. PMID:19595694

  17. Hypothyroid cardiomyopathy complicated by a left ventricular laminar thrombus.

    PubMed

    Van Treeck, Benjamin J; Masoud, Amgad G

    2014-01-01

    Clinical hypothyroidism is the most common hormone deficiency in the United States and is found in 0.3% of the U.S. population. It is associated with characteristic symptoms that can be readily identified by a careful history and physical examination. Hypothyroidism affects many bodily systems; in particular the cardiovascular system is impacted via multiple mechanisms.3 Occasionally hypothyroidism leads to transient left ventricular systolic dysfunction, termed hypothyroid cardiomyopathy. A rare sequela of this condition is a left ventricular thrombus, which has been described in two case reports thus far. Here we report a third case of reversible hypothyroid cardiomyopathy complicated by a left ventricular laminar thrombus. PMID:25438369

  18. Isolated Right Ventricular Dilated Cardiomyopathy: An Early Diagnosis

    PubMed Central

    Briongos Figuero, Sem; Acena Navarro, Alvaro

    2015-01-01

    Because of an incomplete right bundle branch block, a severe right ventricular dilatation with no left ventricular cardiomyopathy was found in a 44-year-old man. Magnetic resonance and transesophageal echocardiography confirmed the finding and these tests also failed to find any potential cause. A pulmonary hemodynamic study and a coronary angiography were strictly normal. Lastly pulmonary function tests and a pulmonary angiography were performed, which did not find any lung disease causing the right ventricular dilatation. The patient was catalogued as an early stage of an idiopathic form of right ventricular dilated cardiomyopathy. PMID:26346826

  19. Trimetazidine therapy prevents obesity-induced cardiomyopathy in mice.

    PubMed

    Ussher, John R; Fillmore, Natasha; Keung, Wendy; Mori, Jun; Beker, Donna L; Wagg, Cory S; Jaswal, Jagdip S; Lopaschuk, Gary D

    2014-08-01

    Obesity is a significant risk factor for the development of cardiovascular disease. Inhibiting fatty acid oxidation has emerged as a novel approach for the treatment of ischemic heart disease. Our aim was to determine whether pharmacologic inhibition of 3-ketoacyl-coenzyme A thiolase (3-KAT), which catalyzes the final step of fatty acid oxidation, could improve obesity-induced cardiomyopathy. A 3-week treatment with the 3-KAT inhibitor trimetazidine prevented obesity-induced reduction in both systolic and diastolic function. Therefore, targeting cardiac fatty acid oxidation may be a novel therapeutic approach to alleviate the growing burden of obesity-related cardiomyopathy. PMID:25064584

  20. Non-compaction cardiomyopathy in an asymptomatic athlete.

    PubMed

    Manus, Margaret Kapor; Roy, Satyajeet; Stag, Rosemarie; Hyman, Daniel

    2016-01-01

    Prevention of sudden cardiac death in athletes requires the screening and recognition of pathologies that often remain clinically silent for years until provoked by a physiologic stressor. This can result in the manifestation of disease and even death. Left ventricular non-compaction cardiomyopathy (LVNC), newly classified as a distinct entity arising in the adult population, is a cardiomyopathy that at initial presentation can manifest as a wide spectrum of symptoms from asymptomatic to ventricular arrhythmias, systemic embolism and even sudden cardiac death. We present the case of an asymptomatic athlete found to have LVNC and discuss the implications this finding may have on sports participation. PMID:27535732

  1. Lactic acidosis associated with cerebellar vermal atrophy and cardiomyopathy.

    PubMed

    Challa, V R; Markesbery, W R; Baumann, R J; Noonan, J A

    1978-08-01

    The association of fluctuating neurological signs and congestive cardiomyopathy with chronic lactic acidosis is described in a 5 1/2 year-old-boy who ultimately succumbed to congestive heart failure. The autopsy findings included severe atrophy of the anterior cerebellar vermis and a hypertrophied heart with left sided endocardial fibroelastosis. Skeletal and cardial muscle calcification was prominent and probably due to the effect of intracellular metabolic alterations associated with lactic acidosis. A review of the literature shows that the combination of cardiomyopathy, isolated atrophy of cerebellar vermis and muscle fiber calcification have not been reported in association with idiopathic lactic acidosis previously. PMID:152418

  2. Takotsubo Cardiomyopathy Coexisting with Acute Pericarditis and Myocardial Bridge

    PubMed Central

    Sezavar, Seyed Hashem; Riahi Beni, Hassan; Ghanavati, Reza; Hajahmadi, Marjan

    2016-01-01

    Takotsubo cardiomyopathy (TCM) is a stress-induced cardiomyopathy that occurs primarily in postmenopausal women. It mimics clinical picture of acute coronary syndrome with nonobstructive coronary arteries and a characteristic transient left (or bi-) ventricular apical ballooning at angiography. The exact pathogenesis of TCM is not well recognized. Hereby we present an unusual case of TCM that presents with signs and symptoms of acute pericarditis and was also found to have a coexisting coronary muscle bridge on coronary angiography. We discuss the impact of these associations in better understanding of the pathogenesis of TCM. PMID:27437150

  3. Infrequent breakfast consumption is associated with higher body adiposity and abdominal obesity in Malaysian school-aged adolescents.

    PubMed

    Nurul-Fadhilah, Abdullah; Teo, Pey Sze; Huybrechts, Inge; Foo, Leng Huat

    2013-01-01

    Unhealthy dietary pattern increases the risk of obesity and metabolic disorders in growing children and adolescents. However, the way the habitual pattern of breakfast consumption influences body composition and risk of obesity in adolescents is not well defined. Thus, the aim of the present study was to assess any associations between breakfast consumption practices and body composition profiles in 236 apparently healthy adolescents aged 12 to 19 years. A self-administered questionnaire on dietary behaviour and lifestyle practices and a dietary food frequency questionnaire were used. Body composition and adiposity indices were determined using standard anthropometric measurement protocols and dual energy χ-ray absorptiometry (DXA). Mean age of the participants was 15.3±1.9 years. The majority of participants (71.2%) fell in the normal body mass index (BMI) ranges. Breakfast consumption patterns showed that only half of the participants (50%) were consuming breakfast daily. Gender-specific multivariate analyses (ANCOVA) showed that in both boys and girls, those eating breakfast at least 5 times a week had significantly lower body weight, body mass index (BMI), BMI z-scores, waist circumference, body fat mass and percent body fat (%BF) compared to infrequent breakfast eaters, after adjustment for age, household income, pubertal status, eating-out and snacking practices, daily energy intakes, and daily physical activity levels. The present findings indicate that infrequent breakfast consumption is associated with higher body adiposity and abdominal obesity. Therefore, daily breakfast consumption with healthy food choices should be encouraged in growing children and adolescents to prevent adiposity during these critical years of growth. PMID:23520556

  4. Urinary excretion of 11-nor-9-carboxy-delta9-tetrahydrocannabinol and cannabinoids in frequent and infrequent drug users.

    PubMed

    Smith-Kielland, A; Skuterud, B; Mørland, J

    1999-09-01

    Urinary excretion of 11-nor-9-carboxy-delta9-tetrahydrocannabinol (THCCOOH) and cannabinoids was monitored in prison inmates. Urinary specimens were collected up to five times per day. EMIT (cutoff 20 ng/mL; EMIT20) and gas chromatography (GC) (cutoff 10.3 ng/mL, LOD 1.4 ng/mL) were used for cannabinoid screening and THCCOOH confirmation, respectively. Urinary creatinine concentrations were recorded. Of the samples with positive EMIT screens, 78% were confirmed by GC analysis. The plotting of THCCOOH/creatinine ratios (THCCOOH/C) versus time gave smoother excretion curves than THCCOOH concentrations alone. Based on THCCOOH/C the first 5 days after the last reported intake, the mean urinary excretion half-life was 1.3 days in infrequent users, and a median of 1.4 days was found in frequent users. In the latter group, apparent terminal urinary excretion half-lives up to 10.3 days were observed. The last positive specimens were found after 4 days for THCCOOH with cutoff 15.0 ng/mL (NIDA/SAMSHA), 5 days for THCCOOH with cutoff 10.3 ng/mL, and 12 days for cannabinoids (EMIT20) in infrequent users and after 17, 22, and 27 days, respectively, in frequent users. Increases in urinary cannabinoids were sometimes found without concomitant increase in THCCOOH or THCCOOH/C. One subject admitted new cannabis intake, after which marked increases in THCCOOH and THCCOOH/C were observed. In others, new intake was suspected. Considerable variations between consecutive specimens were also observed in THCCOOH concentration and THCCOOH/C ratio without suspicion of a new intake. PMID:10488918

  5. Infrequent Breakfast Consumption Is Associated with Higher Body Adiposity and Abdominal Obesity in Malaysian School-Aged Adolescents

    PubMed Central

    Nurul-Fadhilah, Abdullah; Teo, Pey Sze; Huybrechts, Inge; Foo, Leng Huat

    2013-01-01

    Unhealthy dietary pattern increases the risk of obesity and metabolic disorders in growing children and adolescents. However, the way the habitual pattern of breakfast consumption influences body composition and risk of obesity in adolescents is not well defined. Thus, the aim of the present study was to assess any associations between breakfast consumption practices and body composition profiles in 236 apparently healthy adolescents aged 12 to 19 years. A self-administered questionnaire on dietary behaviour and lifestyle practices and a dietary food frequency questionnaire were used. Body composition and adiposity indices were determined using standard anthropometric measurement protocols and dual energy χ-ray absorptiometry (DXA). Mean age of the participants was 15.3±1.9 years. The majority of participants (71.2%) fell in the normal body mass index (BMI) ranges. Breakfast consumption patterns showed that only half of the participants (50%) were consuming breakfast daily. Gender-specific multivariate analyses (ANCOVA) showed that in both boys and girls, those eating breakfast at least 5 times a week had significantly lower body weight, body mass index (BMI), BMI z-scores, waist circumference, body fat mass and percent body fat (%BF) compared to infrequent breakfast eaters, after adjustment for age, household income, pubertal status, eating-out and snacking practices, daily energy intakes, and daily physical activity levels. The present findings indicate that infrequent breakfast consumption is associated with higher body adiposity and abdominal obesity. Therefore, daily breakfast consumption with healthy food choices should be encouraged in growing children and adolescents to prevent adiposity during these critical years of growth. PMID:23520556

  6. CINRG Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy

    PubMed Central

    Spurney, Christopher; Shimizu, Reiko; Hache, Lauren P.; Kolski, Hanna; Gordish-Dressman, Heather; Clemens, Paula R.

    2014-01-01

    Introduction Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). Methods A cross-sectional analysis of clinical data from a multi-institutional, international CINRG DMD Natural History Study of 340 DMD patients aged 2 to 28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%. Results 231 participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47/174), and it was significantly associated with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P>0.68). In patients with cardiomyopathy, 57 % (27/47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15/127) of patients without cardiomyopathy. Discussion Echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort. PMID:24395289

  7. Divergent Mitochondrial Biogenesis Responses in Human Cardiomyopathy

    PubMed Central

    Ahuja, Preeti; Wanagat, Jonathan; Wang, Zhihua; Wang, Yibin; Liem, David A.; Ping, Peipei; Antoshechkin, Igor A.; Margulies, Kenneth B.; MacLellan, W. Robb

    2014-01-01

    Background Mitochondria are key players in the development and progression of heart failure (HF). Mitochondrial (mt) dysfunction leads to diminished energy production and increased cell death contributing to the progression of left ventricular (LV) failure. The fundamental mechanisms that underlie mt dysfunction in HF have not been fully elucidated. Methods and Results To characterize mt morphology, biogenesis and genomic integrity in human HF, we investigated LV tissue from non-failing (NF) hearts and end-stage ischemic (ICM) or dilated (DCM) cardiomyopathic hearts. Although mt dysfunction was present in both types of cardiomyopathy, mt were smaller and increased in number in DCM compared to ICM or NF hearts. Mt volume density and mtDNA copy number was increased by ~2-fold (P<0.001) in DCM hearts in comparison to ICM hearts. These changes were accompanied by an increase in the expression of mtDNA-encoded genes in DCM versus no change in ICM. mtDNA repair and antioxidant genes were reduced in failing hearts suggestive of a defective repair and protection system, which may account for the 4.1-fold increase in mtDNA deletion mutations in DCM (P<0.05 vs NF hearts, P<0.05 vs ICM). Conclusions In DCM, mt dysfunction is associated with mtDNA damage and deletions, which could be a consequence of mutating stress coupled with a PGC-1α-dependent stimulus for mt biogenesis. However, this maladaptive compensatory response contributes to additional oxidative damage. Thus, our findings support further investigations into novel mechanisms and therapeutic strategies for mt dysfunction in DCM. PMID:23589024

  8. Cardiomyopathy in a Harris hawk (Parabuteo unicinctus).

    PubMed

    Brandão, João; Reynolds, Caryn A; Beaufrère, Hugues; Serio, Jacqueline; Blair, Robert V; Gaschen, Lorrie; Johnson, James G; Del Piero, Fabio; Barker, Steven A; Nevarez, Javier G; Tully, Thomas N

    2016-07-15

    CASE DESCRIPTION An adult sexually intact female Harris hawk (Parabuteo unicinctus) housed at a wildlife hospital was evaluated because of acute collapse during an educational exhibition. CLINICAL FINDINGS Physical examination and hematologic analysis revealed no abnormalities; radiography revealed findings consistent with a previous tibiotarsal fracture. Coelioscopy with histologic examination and fungal culture of lung and air sac samples revealed anthracosis but no fungal infection. The hawk was discharged and temporarily removed from the education program; 1 month later, upon reintroduction into the program, it collapsed again. Physical examination and hematologic findings were similar to those after the first episode. Transcoelomic and transesophageal echocardiography and CT angiocardiography findings were consistent with cardiomyopathy. TREATMENT AND OUTCOME Initial cardiac treatment included furosemide (0.5 mg/kg [0.23 mg/lb], PO, q 24 h) and pimobendan (10 mg/kg [4.5 mg/lb], PO, q 12 h). After 10 days of treatment, peak and trough plasma concentrations of pimobendan were measured at 25, 196 and 715.97 ng/mL, respectively; the dosage was decreased to 0.25 mg/kg (0.11 mg/lb), PO, every 12 hours. No overt signs of toxicosis were detected. A sample was collected to reevaluate plasma pimobendan concentration after 30 days of treatment; results were not obtained prior to the patient's death but revealed a peak concentration of 16.8 ng/mL, with an undetectable trough concentration. The hawk was found dead 6 months after initial evaluation. Necropsy revealed cardiomegaly, but histologic examination did not reveal an inciting cause of cardiac dysfunction. CLINICAL RELEVANCE Cardiac disease in raptors may be underreported. Transcoelomic and transesophageal echocardiography and CT angiography provided useful information for the diagnosis of cardiac disease in the hawk of this report. PMID:27379599

  9. Intraventricular vortex properties in nonischemic dilated cardiomyopathy

    PubMed Central

    Benito, Yolanda; Alhama, Marta; Yotti, Raquel; Martínez-Legazpi, Pablo; del Villar, Candelas Pérez; Pérez-David, Esther; González-Mansilla, Ana; Santa-Marta, Cristina; Barrio, Alicia; Fernández-Avilés, Francisco; del Álamo, Juan C.

    2014-01-01

    Vortices may have a role in optimizing the mechanical efficiency and blood mixing of the left ventricle (LV). We aimed to characterize the size, position, circulation, and kinetic energy (KE) of LV main vortex cores in patients with nonischemic dilated cardiomyopathy (NIDCM) and analyze their physiological correlates. We used digital processing of color-Doppler images to study flow evolution in 61 patients with NIDCM and 61 age-matched control subjects. Vortex features showed a characteristic biphasic temporal course during diastole. Because late filling contributed significantly to flow entrainment, vortex KE reached its maximum at the time of the peak A wave, storing 26 ± 20% of total KE delivered by inflow (range: 1–74%). Patients with NIDCM showed larger and stronger vortices than control subjects (circulation: 0.008 ± 0.007 vs. 0.006 ± 0.005 m2/s, respectively, P = 0.02; KE: 7 ± 8 vs. 5 ± 5 mJ/m, P = 0.04), even when corrected for LV size. This helped confining the filling jet in the dilated ventricle. The vortex Reynolds number was also higher in the NIDCM group. By multivariate analysis, vortex KE was related to the KE generated by inflow and to chamber short-axis diameter. In 21 patients studied head to head, Doppler measurements of circulation and KE closely correlated with phase-contract magnetic resonance values (intraclass correlation coefficient = 0.82 and 0.76, respectively). Thus, the biphasic nature of filling determines normal vortex physiology. Vortex formation is exaggerated in patients with NIDCM due to chamber remodeling, and enlarged vortices are helpful for ameliorating convective pressure losses and facilitating transport. These findings can be accurately studied using ultrasound. PMID:24414062

  10. Phonoechocardiography and intracardiac phonocardiography in hypertrophic cardiomyopathy.

    PubMed Central

    Shaver, J. A.; Alvares, R. F.; Reddy, P. S.; Salerni, R.

    1986-01-01

    The salient phonoechocardiographic features of patients having hypertrophic cardiomyopathy (HCM) with or without left ventricular outflow tract (LVOT) gradients are reviewed. Intracardiac sound and pressure recordings from high fidelity catheter-tipped micromanometers have documented that the precordial murmur is the summation of both the systolic ejection murmur (SEM) arising from the LVOT, as well as the mitral regurgitant murmur recorded from the left atrium. The intensity of the precordial murmur varies directly with the LVOT gradient, which in turn is determined primarily by the contractility and loading conditions of the left ventricle. Reversed splitting of the second heart sound (S2) with paradoxical respiratory movement is a common finding in HCM, and when present, almost always denotes a significant LVOT gradient. It is due to marked lengthening of the left ventricular ejection time secondary to prolongation of the contraction and relaxation phases of left ventricular systole. The presence of a fourth heart sound (S4) is the rule in HCM when normal sinus rhythm is present, and is a reflection of a forceful left atrial contraction into a hypertrophied noncompliant left ventricle. A third heart sound (S3) is also common in HCM, and often the initial vibrations occur before the 0 point of the apexcardiogram (ACG) and continue giving the auscultatory impression of a diastolic rumble. When associated with a loud S1, which is frequently present, the clinical presentation may mimic mitral stenosis. This is particularly true when the patient has chronic atrial fibrillation. Careful attention to evidence of marked left ventricular hypertrophy as well as the typical echocardiographic findings of HCM preclude this diagnosis. In conclusion, phonoechocardiography is a simple non-invasive technique which almost always makes the definitive diagnosis of HCM. PMID:3774689

  11. Predictors and prevention of diabetic cardiomyopathy

    PubMed Central

    Chavali, Vishalakshi; Tyagi, Suresh C; Mishra, Paras K

    2013-01-01

    Despite our cognizance that diabetes can enhance the chances of heart failure, causes multiorgan failure,and contributes to morbidity and mortality, it is rapidly increasing menace worldwide. Less attention has been paid to alert prediabetics through determining the comprehensive predictors of diabetic cardiomyopathy (DCM) and ameliorating DCM using novel approaches. DCM is recognized as asymptomatic progressing structural and functional remodeling in the heart of diabetics, in the absence of coronary atherosclerosis and hypertension. The three major stages of DCM are: (1) early stage, where cellular and metabolic changes occur without obvious systolic dysfunction; (2) middle stage, which is characterized by increased apoptosis, a slight increase in left ventricular size, and diastolic dysfunction and where ejection fraction (EF) is <50%; and (3) late stage, which is characterized by alteration in microvasculature compliance, an increase in left ventricular size, and a decrease in cardiac performance leading to heart failure. Recent investigations have revealed that DCM is multifactorial in nature and cellular, molecular, and metabolic perturbations predisposed and contributed to DCM. Differential expression of microRNA (miRNA), signaling molecules involved in glucose metabolism, hyperlipidemia, advanced glycogen end products, cardiac extracellular matrix remodeling, and alteration in survival and differentiation of resident cardiac stem cells are manifested in DCM. A sedentary lifestyle and high fat diet causes obesity and this leads to type 2 diabetes and DCM. However, exercise training improves insulin sensitivity, contractility of cardiomyocytes, and cardiac performance in type 2 diabetes. These findings provide new clues to diagnose and mitigate DCM. This review embodies developments in the field of DCM with the aim of elucidating the future perspectives of predictors and prevention of DCM. PMID:23610527

  12. The Impact of HAART on Cardiomyopathy among Children and Adolescents Perinatally Infected with HIV-1

    PubMed Central

    Patel, Kunjal; van Dyke, Russell B.; Mittleman, Murray A.; Colan, Steven D.; Oleske, James M.; Seage, George R.

    2012-01-01

    Objective Previous studies of cardiomyopathy among children perinatally infected with HIV were conducted before the routine use of highly active antiretroviral therapy (HAART). Nucleoside analogues (NRTIs), the backbone of HAART, have been associated with mitochondrial toxicity, which can lead to cardiomyopathy. We evaluated the association of HAART and specific NRTIs associated with mitochondrial toxicity, on development of cardiomyopathy among perinatally HIV-infected children. Design 3,035 perinatally HIV-infected children enrolled in a US-based multicenter prospective cohort study, were followed for cardiomyopathy, defined as a clinical diagnosis or initiation of digoxin, from 1993–2007. Methods Cox models were used to estimate the effects of HAART and NRTIs on cardiomyopathy, identify predictors of cardiomyopathy among HAART users, and estimate the association between development of cardiomyopathy and mortality. Results 99 cases of cardiomyopathy were identified over follow-up (incidence rate: 5.6 cases per 1,000 person-years) at a median age of 9.4 years. HAART was associated with a 50% lower incidence of cardiomyopathy compared to no HAART use (95% confidence interval: 20%, 70%). Zalcitabine (ddC) use, however, was associated with an 80% higher incidence of cardiomyopathy. Among HAART users, older age at HAART initiation, ddC use before HAART initiation, initiating a HAART regimen containing zidovudine (ZDV), and a nadir CD4<15% were independently associated with a higher rate of cardiomyopathy. Cardiomyopathy was associated with a 6-fold higher mortality rate. Conclusions HAART has dramatically decreased the incidence of cardiomyopathy among perinatally HIV-infected children. However, they remain at increased risk for cardiomyopathy and ongoing ZDV exposure may increase this risk. PMID:22781228

  13. Takotsubo cardiomyopathy systematic review: Pathophysiologic process, clinical presentation and diagnostic approach to Takotsubo cardiomyopathy.

    PubMed

    Ono, Ryohei; Falcão, L Menezes

    2016-04-15

    Takotsubo cardiomyopathy (TTC) is characterized by transient left ventricular apical ballooning with the absence of coronary occlusion, which typically occurs in older women after emotional or physical stress. The pathophysiology of TTC is not well established, though several possible causes such as catecholamine cardiotoxicity, metabolic disturbance, coronary microvascular impairment and multivessel epicardial coronary artery spasm have been proposed. A number of diagnostic criteria have been suggested in the world and not unified as single, but the most common accepted one is Mayo Clinic proposed criteria. Since the clinical presentation of TTC is usually similar to acute coronary syndrome, differential diagnosis is essential to exclude other diseases and also for its treatment. Imaging modality including echocardiogram, angio CT and cardiac MRI, and lab tests for catecholamine, troponin T, creatine kinase MB and B-type natriuretic peptide can be useful to differentiate TTC from other diseases. Prognosis is generally favorable and in-hospital mortality is from 0% to within 10%. PMID:26896623

  14. Angiogenesis and antifibrotic action by hepatocyte growth factor in cardiomyopathy.

    PubMed

    Taniyama, Yoshiaki; Morishita, Ryuichi; Aoki, Motokuni; Hiraoka, Kazuya; Yamasaki, Keita; Hashiya, Naotaka; Matsumoto, Kunio; Nakamura, Toshikazu; Kaneda, Yasufumi; Ogihara, Toshio

    2002-07-01

    Impairment of cardiac function in cardiomyopathy has been postulated to be related to decreased blood blow and increased collagen synthesis. Therefore, a therapeutic approach to alter the blood flow or fibrosis directly by means of growth factors may open a new therapeutic concept in dilated cardiomyopathy. From this viewpoint, hepatocyte growth factor (HGF) is a unique growth factor with antifibrosis and angiogenesis effects. Using the hereditary cardiomyopathic Syrian hamster as a model of genetically determined cardiomyopathy and heart failure, the effects of overexpression of HGF on fibrosis and microvascular dysfunction were examined. HGF gene or control vector was injected by the Hemagglutinating Virus of Japan-liposome method into the anterior heart of cardiomyopathic hamsters (Bio 14.6) under echocardiography once a week, from 12 to 20 weeks of age (total, 8 times). Blood flow, as assessed by a laser Doppler imager score, and the capillary density in hearts, as assessed by alkaline phosphatase staining, were significantly increased in hamsters transfected with HGF gene compared with control-vector-transfected hamsters (P<0.01). In contrast, the fibrotic area was significantly decreased in hamsters transfected with HGF gene compared with control (P<0.01). Overall, in vivo experiments demonstrated that transfection of HGF gene into the myocardium of cardiomyopathic hamsters stimulated blood flow through the induction of angiogenesis and reduction of fibrosis. These results suggest that HGF gene transfer may be useful to protect against myocardial injury in cardiomyopathy through its cardioprotective effects such as antifibrosis and angiogenesis actions. PMID:12105137

  15. Red blood cell sodium heteroexchange in familial primary hypertrophic cardiomyopathy.

    PubMed

    Semplicini, A; Mozzato, M G; Bongiovi, S; Marzola, M; Macor, F; Ceolotto, G; Serena, L; Pessina, A C

    1994-03-01

    The hallmark of primary hypertrophic cardiomyopathy is an inappropriate myocardial hypertrophy, linked to myofibril disarray of the left ventricle. Its variable clinical expression may be due to genetic heterogeneity and variable penetrance. Since we have recently shown that abnormalities of cation transport in the erythrocytes are associated with cardiac hypertrophy in essential hypertensives and insulin-dependent diabetics, we have investigated the relationship between cardiac anatomy and function and red cell Li+/Na+ and Na+/H+ exchange in 33 relatives of a patient who died of cardiac failure and was found to have a primary hypertrophic cardiomyopathy at autopsy. According to echocardiographic examination, 11 members of the family also had a hypertrophic cardiomyopathy, with a family distribution compatible with autosomal dominant genetic transmission and variable penetrance. Red cell Li+/Na+ and Na+/H+ exchange were not significantly different in the affected members as compared to the unaffected, but in the former, after correction for potentially confounding variables, interventricular septum thickness was positively correlated to Na+/H+ exchange and diastolic function (Area E/Area A and Vmax E/Vmax A) negatively correlated to Li+/Na+ exchange. Since a generalized overactivity of the cell membrane Na+/H+ exchange, reflected by increased Na+/H+ and Li+/Na+ exchanges in the red cells, could favour cellular growth and diastolic dysfunction, our data suggest that abnormalities of cell membrane cation transport could play a role in the phenotypic expression of hypertrophic cardiomyopathy. PMID:8013504

  16. Cardiomyocyte GTP Cyclohydrolase 1 Protects the Heart Against Diabetic Cardiomyopathy.

    PubMed

    Wu, Hsiang-En; Baumgardt, Shelley L; Fang, Juan; Paterson, Mark; Liu, Yanan; Du, Jianhai; Shi, Yang; Qiao, Shigang; Bosnjak, Zeljko J; Warltier, David C; Kersten, Judy R; Ge, Zhi-Dong

    2016-01-01

    Diabetic cardiomyopathy increases the risk of heart failure and death. At present, there are no effective approaches to preventing its development in the clinic. Here we report that reduction of cardiac GTP cyclohydrolase 1 (GCH1) degradation by genetic and pharmacological approaches protects the heart against diabetic cardiomyopathy. Diabetic cardiomyopathy was induced in C57BL/6 wild-type mice and transgenic mice with cardiomyocyte-specific overexpression of GCH1 with streptozotocin, and control animals were given citrate buffer. We found that diabetes-induced degradation of cardiac GCH1 proteins contributed to adverse cardiac remodeling and dysfunction in C57BL/6 mice, concomitant with decreases in tetrahydrobiopterin, dimeric and phosphorylated neuronal nitric oxide synthase, sarcoplasmic reticulum Ca(2+) handling proteins, intracellular [Ca(2+)]i, and sarcoplasmic reticulum Ca(2+) content and increases in phosphorylated p-38 mitogen-activated protein kinase and superoxide production. Interestingly, GCH-1 overexpression abrogated these detrimental effects of diabetes. Furthermore, we found that MG 132, an inhibitor for 26S proteasome, preserved cardiac GCH1 proteins and ameliorated cardiac remodeling and dysfunction during diabetes. This study deepens our understanding of impaired cardiac function in diabetes, identifies GCH1 as a modulator of cardiac remodeling and function, and reveals a new therapeutic target for diabetic cardiomyopathy. PMID:27295516

  17. Unbreak My Heart: Targeting Mitochondrial Autophagy in Diabetic Cardiomyopathy

    PubMed Central

    Kubli, Dieter A.

    2015-01-01

    Abstract Significance: Diabetes is strongly associated with increased incidence of heart disease and mortality due to development of diabetic cardiomyopathy. Even in the absence of cardiovascular disease, cardiomyopathy frequently arises in diabetic patients. Current treatment options for cardiomyopathy in diabetic patients are the same as for nondiabetic patients and do not address the causes underlying the loss of contractility. Recent Advances: Although there are numerous distinctions between Type 1 and Type 2 diabetes, recent evidence suggests that the two disease states converge on mitochondria as an epicenter for cardiomyocyte damage. Critical Issues: Accumulation of dysfunctional mitochondria contributes to cardiac tissue injury in both acute and chronic conditions. Removal of damaged mitochondria by macroautophagy, termed “mitophagy,” is critical for maintaining cardiomyocyte health and contractility both under normal conditions and during stress. However, very little is known about the involvement of mitophagy in the pathogenesis of diabetic cardiomyopathy. A growing interest in this topic has given rise to a wave of publications that aim at deciphering the status of autophagy and mitophagy in Type 1 and Type 2 diabetes. Future Directions: This review summarizes these recent studies with the goal of drawing conclusions about the activation or suppression of autophagy and mitophagy in the diabetic heart. A better understanding of how autophagy and mitophagy are affected in the diabetic myocardium is still needed, as well as whether they can be targeted therapeutically. Antioxid. Redox Signal. 22, 1527–1544. PMID:25808102

  18. Experimental models of inherited cardiomyopathy and its therapeutics

    PubMed Central

    Nonaka, Miki; Morimoto, Sachio

    2014-01-01

    Cardiomyopathy is a disease of myocardium categorized into three major forms, hypertrophic (HCM), dilated (DCM) and restrictive cardiomyopathy (RCM), which has recently been demonstrated to be a monogenic disease due to mutations in various proteins expressed in cardiomyocytes. Mutations in HCM and RCM typically increase the myofilament sensitivity to cytoplasmic Ca2+, leading to systolic hyperfunction and diastolic dysfunction. In contrast, mutations in DCM typically decrease the myofilament sensitivity to cytoplasmic Ca2+ and/or force generation/transmission, leading to systolic dysfunction. Creation of genetically-manipulated transgenic and knock-in animals expressing mutant proteins exogenously and endogenously, respectively, in their hearts provides valuable animal models to discover the molecular and cellular mechanisms for pathogenesis and promising therapeutic strategy in vivo. Recently, cardiomyocytes have been differentiated from patient’s induced pluripotent stem cells as a model of inherited cardiomyopathies in vitro. In this review, we provide overview of experimental models of cardiomyopathies with a focus on revealed molecular and cellular pathogenic mechanisms and potential therapeutics. PMID:25548614

  19. Cardiomyocyte GTP Cyclohydrolase 1 Protects the Heart Against Diabetic Cardiomyopathy

    PubMed Central

    Wu, Hsiang-En; Baumgardt, Shelley L.; Fang, Juan; Paterson, Mark; Liu, Yanan; Du, Jianhai; Shi, Yang; Qiao, Shigang; Bosnjak, Zeljko J.; Warltier, David C.; Kersten, Judy R.; Ge, Zhi-Dong

    2016-01-01

    Diabetic cardiomyopathy increases the risk of heart failure and death. At present, there are no effective approaches to preventing its development in the clinic. Here we report that reduction of cardiac GTP cyclohydrolase 1 (GCH1) degradation by genetic and pharmacological approaches protects the heart against diabetic cardiomyopathy. Diabetic cardiomyopathy was induced in C57BL/6 wild-type mice and transgenic mice with cardiomyocyte-specific overexpression of GCH1 with streptozotocin, and control animals were given citrate buffer. We found that diabetes-induced degradation of cardiac GCH1 proteins contributed to adverse cardiac remodeling and dysfunction in C57BL/6 mice, concomitant with decreases in tetrahydrobiopterin, dimeric and phosphorylated neuronal nitric oxide synthase, sarcoplasmic reticulum Ca2+ handling proteins, intracellular [Ca2+]i, and sarcoplasmic reticulum Ca2+ content and increases in phosphorylated p-38 mitogen-activated protein kinase and superoxide production. Interestingly, GCH-1 overexpression abrogated these detrimental effects of diabetes. Furthermore, we found that MG 132, an inhibitor for 26S proteasome, preserved cardiac GCH1 proteins and ameliorated cardiac remodeling and dysfunction during diabetes. This study deepens our understanding of impaired cardiac function in diabetes, identifies GCH1 as a modulator of cardiac remodeling and function, and reveals a new therapeutic target for diabetic cardiomyopathy. PMID:27295516

  20. Arrhythmogenic right ventricular cardiomyopathy in a patient with schizophrenia

    PubMed Central

    Kawasaki, Kenta; Miyaji, Kotaro; Kodera, Satoshi; Suzuki, Yoshio; Kanda, Junji; Ikeda, Masayuki

    2015-01-01

    Key Clinical Message People with schizophrenia are at greater risk of cardiovascular morbidity and mortality than the general population. Arrhythmogenic right ventricular cardiomyopathy is a recognized cause of sudden cardiac death in young people. This report discusses the necessity for close cardiac evaluation to reduce incidence of sudden death in people with schizophrenia. PMID:25984311

  1. Hypertrophic cardiomyopathy in infants: clinical features and natural history

    SciTech Connect

    Maron, B.J.; Tajik, A.J.; Ruttenberg, H.D.; Graham, T.P.; Atwood, G.F.; Victorica, B.E.; Lie, J.T.; Roberts, W.C.

    1982-01-01

    The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of nondilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure.

  2. Stress Cardiomyopathy in the Setting of COPD Exacerbation

    PubMed Central

    Landefeld, Kevin; Saleh, Qusai; Sander, Gary E.

    2015-01-01

    Introduction. Stress cardiomyopathy, or takotsubo cardiomyopathy, is an acute, reversible left ventricular dysfunction usually initiated by a psychological or physical stress. We report this case of stress cardiomyopathy following a chronic obstructive pulmonary disease exacerbation and the subsequent treatment. Case Description. A 49-year-old white female with a history of chronic obstructive pulmonary disease presented to the emergency room via emergency medical services with worsening severe shortness of breath and productive cough for 2 weeks but denied any chest pain on arrival. On presentation, she was noted to be tachypneic, using her accessory muscles and with bilateral coarse expiratory wheezing on lung auscultation. Initial electrocardiogram demonstrated sinus tachycardia. She was treated with multiple albuterol treatments. Soon afterwards, the course was complicated by hypoxic respiratory failure eventually requiring intubation. Her repeat electrocardiogram showed acute changes consistent with myocardial infarction, and an echocardiograph demonstrated apical akinesia with an ejection fraction of 25% to 30%. The patient was urgently taken for cardiac catheterization, which showed no angiographic evidence of coronary artery disease. Three days after initial presentation, a repeat transthoracic echocardiogram showed overall left ventricular systolic function improvement. Discussion. This case provided a unique look at the difficulty of balancing catecholamines in a patient with bronchospasm and stress cardiomyopathy. PMID:26904708

  3. Hypertrophic Cardiomyopathy: Practical Steps for Preventing Sudden Death.

    ERIC Educational Resources Information Center

    Maron, Barry J.

    2002-01-01

    Hypertrophic cardiomyopathy (HCM) is a rare cause of death among athletes, with deaths occurring in young, apparently healthy people. Differentiating HCM from conditioning hypertrophy is challenging. Routine detection involves family history, physical examination, electrocardiography, and echocardiography. Keys to differential diagnosis include…

  4. Alcoholic cardiomyopathy : The result of dosage and individual predisposition.

    PubMed

    Maisch, B

    2016-09-01

    The individual amount of alcohol consumed acutely or chronically decides on harm or benefit to a person's health. Available data suggest that one to two drinks in men and one drink in women will benefit the cardiovascular system over time, one drink being 17.6 ml 100 % alcohol. Moderate drinking can reduce the incidence and mortality of coronary artery disease, heart failure, diabetes, ischemic and hemorrhagic stroke. More than this amount can lead to alcoholic cardiomyopathy, which is defined as alcohol toxicity to the heart muscle itself by ethanol and its metabolites. Historical examples of interest are the Munich beer heart and the Tübingen wine heart. Associated with chronic alcohol abuse but having different etiologies are beriberi heart disease (vitamin B1 deficiency) and cardiac cirrhosis as hyperdynamic cardiomyopathies, arsenic poising in the Manchester beer epidemic, and cobalt intoxication in Quebec beer drinker's disease. Chronic heavy alcohol abuse will also increase blood pressure and cause a downregulation of the immune system that could lead to increased susceptibility to infections, which in turn could add to the development of heart failure. Myocardial tissue analysis resembles idiopathic cardiomyopathy or chronic myocarditis. In the diagnostic work-up of alcoholic cardiomyopathy, the confirmation of alcohol abuse by carbohydrate deficient transferrin (CDT) and increased liver enzymes, and the involvement of the heart by markers of heart failure (e.g., NT-proBNP) and of necrosis (e.g., troponins or CKMb) is mandatory. Treatment of alcoholic cardiomyopathy consists of alcohol abstinence and heart failure medication. PMID:27582365

  5. Infrequent HIV Testing and Late HIV Diagnosis Are Common Among A Cohort of Black Men Who Have Sex with Men (BMSM) in Six US Cities

    PubMed Central

    Mannheimer, S.; Wang, L.; Wilton, L.; Tieu, H.V.; del Rio, C.; Buchbinder, S.; Fields, S.; Glick, S.; Cummings, V.; Eshleman, S.H.; Koblin, B.; Mayer, K.H.

    2014-01-01

    Objective US guidelines recommend at least annual HIV testing for those at risk. This analysis assessed frequency and correlates of infrequent HIV testing and late diagnosis among black men who have sex with men (BMSM). Methods HIV testing history was collected at enrollment from participants in HPTN 061, an HIV prevention trial for at-risk US BMSM. Two definitions of late HIV diagnosis were assessed: CD4 cell count <200 cells/mm3 or <350 cells/mm3 at diagnosis. Results HPTN 061 enrolled 1553 BMSM. HIV testing questions were completed at enrollment by 1284 (98.7%) of 1301 participants with no prior HIV diagnosis; 272 (21.2%) reported no HIV test in prior 12 months (infrequent testing); 155 of whom (12.1% of the 1284 with testing data) reported never testing. Infrequent HIV testing was associated with: not seeing a medical provider in the prior 6 months (relative risk [RR]: 1.08, 95% confidence intervals [CI]: 1.03–1.13), being unemployed (RR 1.04, CI: 1.01–1.07), and having high internalized HIV stigma (RR: 1.03, CI: 1.0–1.05). New HIV diagnoses were more likely among infrequent testers compared to men tested in the prior year (18.4% vs. 4.4%; OR: 4.8, 95% CI: 3.2–7.4). Among men with newly diagnosed HIV, 33 (39.3%) had a CD4 cell count <350 cells/mm;3 including 17 (20.2%) with CD4 <200 cells/mm.3 Conclusions Infrequent HIV testing, undiagnosed infection, and late diagnosis were common among BMSM in this study. New HIV diagnoses were more common among infrequent testers, underscoring the need for additional HIV testing and prevention efforts among US BMSM. PMID:25197830

  6. Modeling aeolian transport of soil-bound plutonium: considering infrequent but normal environmental disturbances is critical in estimating future dose.

    PubMed

    Michelotti, Erika A; Whicker, Jeffrey J; Eisele, William F; Breshears, David D; Kirchner, Thomas B

    2013-06-01

    Dose assessments typically consider environmental systems as static through time, but environmental disturbances such as drought and fire are normal, albeit infrequent, events that can impact dose-influential attributes of many environmental systems. These phenomena occur over time frames of decades or longer, and are likely to be exacerbated under projected warmer, drier climate. As with other types of dose assessment, the impacts of environmental disturbances are often overlooked when evaluating dose from aeolian transport of radionuclides and other contaminants. Especially lacking are predictions that account for potential changing vegetation cover effects on radionuclide transport over the long time frames required by regulations. A recently developed dynamic wind-transport model that included vegetation succession and environmental disturbance provides more realistic long-term predictability. This study utilized the model to estimate emission rates for aeolian transport, and compare atmospheric dispersion and deposition rates of airborne plutonium-contaminated soil into neighboring areas with and without environmental disturbances. Specifically, the objective of this study was to utilize the model results as input for a widely used dose assessment model (CAP-88). Our case study focused on low levels of residual plutonium found in soils from past operations at Los Alamos National Laboratory (LANL), in Los Alamos, NM, located in the semiarid southwestern USA. Calculations were conducted for different disturbance scenarios based on conditions associated with current climate, and a potential future drier and warmer climate. Known soil and sediment concentrations of plutonium were used to model dispersal and deposition of windblown residual plutonium, as a function of distance and direction. Environmental disturbances that affected vegetation cover included ground fire, crown fire, and drought, with reoccurrence rates for current climate based on site historical

  7. How to evaluate an agent's behavior to infrequent events?—Reliable performance estimation insensitive to class distribution

    PubMed Central

    Straube, Sirko; Krell, Mario M.

    2014-01-01

    In everyday life, humans and animals often have to base decisions on infrequent relevant stimuli with respect to frequent irrelevant ones. When research in neuroscience mimics this situation, the effect of this imbalance in stimulus classes on performance evaluation has to be considered. This is most obvious for the often used overall accuracy, because the proportion of correct responses is governed by the more frequent class. This imbalance problem has been widely debated across disciplines and out of the discussed treatments this review focusses on performance estimation. For this, a more universal view is taken: an agent performing a classification task. Commonly used performance measures are characterized when used with imbalanced classes. Metrics like Accuracy, F-Measure, Matthews Correlation Coefficient, and Mutual Information are affected by imbalance, while other metrics do not have this drawback, like AUC, d-prime, Balanced Accuracy, Weighted Accuracy and G-Mean. It is pointed out that one is not restricted to this group of metrics, but the sensitivity to the class ratio has to be kept in mind for a proper choice. Selecting an appropriate metric is critical to avoid drawing misled conclusions. PMID:24782751

  8. A Brief Review of Infrequent Spontaneous Findings, Peculiar Anatomical Microscopic Features, and Potential Artifacts in Göttingen Minipigs.

    PubMed

    McInnes, E F; McKeag, S

    2016-04-01

    Minipigs are now used in greater numbers in contract research organizations (CROs) as well as in the pharmaceutical industry. Most CROs or pharmaceutical companies use the Göttingen minipig, which displays a number of important background lesions. This review will discuss some of the more infrequent minipig background changes. Porcine stress syndrome is an autosomal recessive pharmacogenetic disorder in minipigs causing malignant hyperthermia and muscle necrosis. Possible triggers, clinical pathology as well as heart, muscle, liver, lung, and kidney histopathology are discussed. Additional spontaneous changes, background findings, and peculiar anatomical and histological features include thrombocytopenic purpura syndrome, spontaneous glomerulonephritis, osteochondritis, ellipsoids, or Schweigger-Seidel sheaths in the spleen, as well as the presence of a perimesenteric plexus adjacent to mesenteric lymph nodes, squamous epithelial metaplasia of the salivary gland, and cupping of the optic disk in the minipig eye. In order to maximize the data gained from minipig studies, the interpretation of pathology findings requires the input of experienced pathologists who understand the significance of artifacts and spontaneous, background lesions in minipigs and can distinguish these from induced lesions. PMID:26839330

  9. Short seed longevity, variable germination conditions, and infrequent establishment events provide a narrow window for Yucca brevifolia (Agavaceae) recruitment

    USGS Publications Warehouse

    Bryant, M.; Reynolds, J.; DeFalco, Lesley A.; Esque, Todd C.

    2012-01-01

    PREMISE OF THE STUDY: The future of long-lived stand-forming desert plants such as Yucca brevifolia (Joshua tree) has come into question in light of climate variation and landscape-scale disturbances such as wildfire. Understanding plant establishment dynamics is important for mitigating the impacts of disturbances and promoting revegetation. • METHODS: We placed Y. brevifolia seeds in shallow caches and manipulated granivore access, nurse shrub effects, and the season of cache placement to determine conditions for seed germination and seedling establishment. • KEY RESULTS: Greatest seedling emergence occurred during spring and summer, when increased soil moisture was accompanied by warm soil temperatures. Late winter-spring emergence for cached seeds was enhanced beneath shrub canopies, but seedling survival declined beneath shrubs as temperatures increased in spring. Germinability of seed remaining in the soil was reduced from 50-68% after 12 mo residence time in soil and declined to <3% after 40 mo. Following dispersal from parent plants, seeds are either removed by granivores or lose germinability, imposing substantial losses of potential germinants. • CONCLUSIONS: Specific germination and establishment requirements impose stringent limits on recruitment rates for Y. brevifolia. Coupled with infrequent seed availability, the return rates to prefire densities and demographic structure may require decades to centuries, especially in light of potential changes to regional desert climate in combination with the potential for fire recurrence. Demographic patterns are predicted to vary spatially in response to environmental variability that limits recruitment and may already be apparent among extant populations.

  10. Magnetic Resonance Imaging of Non-ischemic Cardiomyopathies: A Pictorial Essay.

    PubMed

    Olivas-Chacon, Cristina I; Mullins, Carola; Stewart, Kevan; Akle, Nassim; Calleros, Jesus E; Ramos-Duran, Luis R

    2015-01-01

    Non-ischemic cardiomyopathies are defined as either primary or secondary diseases of the myocardium resulting in cardiac dysfunction. While primary cardiomyopathies are confined to the heart and can be genetic or acquired, secondary cardiomyopathies show involvement of the heart as a manifestation of an underlying systemic disease including metabolic, inflammatory, granulomatous, infectious, or autoimmune entities. Non-ischemic cardiomyopathies are currently classified as hypertrophic, dilated, restrictive, or unclassifiable, including left ventricular non-compaction. Cardiovascular Magnetic Resonance Imaging (CMRI) not only has the capability to assess cardiac morphology and function, but also the ability to detect edema, hemorrhage, fibrosis, and intramyocardial deposits, providing a valuable imaging tool in the characterization of non-ischemic cardiomyopathies. This pictorial essay shows some of the most important non-ischemic cardiomyopathies with an emphasis on magnetic resonance imaging features. PMID:26199786

  11. Fatal arrhythmogenic right ventricular cardiomyopathy in 2 related subadult chimpanzees (Pan troglodytes).

    PubMed

    Tong, L J; Flach, E J; Sheppard, M N; Pocknell, A; Banerjee, A A; Boswood, A; Bouts, T; Routh, A; Feltrer, Y

    2014-07-01

    Cardiovascular disease is increasingly recognized as an important cause of morbidity and mortality in captive chimpanzees (Pan troglodytes). This report records 2 cases of sudden cardiac death in closely related subadult captive chimpanzees with marked replacement fibrosis and adipocyte infiltration of the myocardium, which resemble specific atypical forms of the familial human disease arrhythmogenic right ventricular cardiomyopathy. Changes were consistent with left-dominant and biventricular subtypes, which are both phenotypic variants found within human families with familial arrhythmogenic right ventricular cardiomyopathy. Previously reported fibrosing cardiomyopathies in chimpanzees were characterized by nonspecific interstitial fibrosis, in contrast to the replacement fibrofatty infiltration with predilection for the outer myocardium seen in these 2 cases. To the authors' knowledge, this case report is the first to describe cardiomyopathy resembling arrhythmogenic right ventricular cardiomyopathy in nonhuman primates and the first to describe left-dominant arrhythmogenic cardiomyopathy-type lesions in an animal. PMID:23988399

  12. Hearing Profile in Patients with Dilated and Hypertrophic Cardiomyopathies

    PubMed Central

    El-Zarea, Gehan Abd El-Rahman; Hassan, Yasser Elsayed Mohamed; Mahmoud, Ahmed Mohamed Ahmed

    2016-01-01

    Introduction Cardiomyopathy may cause disruptions in the micro-vascular system of the stria vascularis in the cochlea, and, subsequently, may result in cochlear degeneration. Degeneration in the stria vascularis affects the physical and chemical processes in the organ of Corti, thereby causing a possible hearing impairment. The objective of this study was to assess the hearing profiles of patients with dilated and hypertrophic cardiomyopathies to determine the relationship between the degree of hearing loss and the degree and duration of the disease and to compare the dilated and hypertrophic cardiomyopathies as regards hearing profile. Methods In this case control study, we studied 21 patients (cases/study group/group 1) and 15 healthy individuals (controls/group 2). Six patients (group 1a) had hypertrophic cardiomyopathy (HCM), and 15 patients (group 1b) had dilated cardiomyopathy (DCM). The data were analyzed using the t-test, chi-squared test, Kruskal-Wallis test, and the Multiple Mann-Whitney test. Results The results of this study showed that 80% of those patients with DCM (group 1b) had bilateral sensorineural hearing loss (SNHL), and 100% of the patients with HCM (group 1a) had mild to severe bilateral sloping SNHL. Distortion Product Otoacoustic Emissions (DPOAEs) were present in 14% of the study group and in 100 % of the control group. The results of the measurements of auditory brainstem response (ABR) showed that 50% of the study group had abnormal latencies compared to the control group, and there was no correlation between the duration of the disease and the degree of hearing loss or DPOAE. Fifty percent of the patients with HCM and 35% of the patients with DCM had positive family histories of similar conditions, and 35% of those with HCM had a positive family history of sudden death. Conclusion The results of this study suggested that the link between heart disease and hearing loss and early identification of hearing loss in patients with

  13. Infrequent, but Not Frequent, Reinforcers Produce More Variable Responding and Deficient Sustained Attention in Young Children with Attention-Deficit/Hyperactivity Disorder (ADHD)

    ERIC Educational Resources Information Center

    Aase, Heidi; Sagvolden, Terje

    2006-01-01

    Background: The underlying behavioral/psychological processes of attention-deficit/hyperactivity disorder are unclear. Motivational factors, related to dopamine dysfunction, may play an important role in the development of the behavioral symptoms. Particularly, infrequent, but not frequent, reinforcers have been suggested to be associated with…

  14. The genetic landscape of cardiomyopathy and its role in heart failure

    PubMed Central

    McNally, Elizabeth M; Barefield, David Y; Puckelwartz, Megan J

    2015-01-01

    Heart failure is highly influenced by heritability, and nearly 100 genes link to familial cardiomyopathy. Despite the marked genetic diversity that underlies these complex cardiovascular phenotypes, several key genes and pathways have emerged. Hypertrophic cardiomyopathy is characterized by increased contractility and a greater energetic cost of cardiac output. Dilated cardiomyopathy is often triggered by mutations that disrupt the giant protein titin. The energetic consequences of these mutations offer molecular targets and opportunities for new drug development and gene correction therapies. PMID:25651172

  15. Clinical and Genetic Determinants of Cardiomyopathy Risk among Hematopoietic Cell Transplantation Survivors.

    PubMed

    Leger, Kasey J; Cushing-Haugen, Kara; Hansen, John A; Fan, Wenhong; Leisenring, Wendy M; Martin, Paul J; Zhao, Lue Ping; Chow, Eric J

    2016-06-01

    Cardiomyopathy has been recognized as a complication after hematopoietic cell transplantation (HCT). Using a nested case-cohort design, we examined the relationships between demographic, therapeutic, and selected cardiovascular disease risk factors among ≥1-year HCT survivors who developed cardiomyopathy before (n = 43) or after (n = 89) 1 year from HCT as compared to a randomly selected subcohort of survivors without cardiomyopathy (n = 444). Genomic data were available for 79 cases and 267 noncases. Clinical and genetic covariates were examined for association with the risk of early or late cardiomyopathy. Clinical risk factors associated with both early- and late-onset cardiomyopathy included anthracycline exposure ≥250 mg/m(2) and pre-existing hypertension. Among late-onset cardiomyopathy cases, the development of diabetes and ischemic heart disease further increased risk. We replicated several previously reported genetic associations among early-onset cardiomyopathy cases, including rs1786814 in CELF4, rs2232228 in HAS3, and rs17863783 in UGT1A6. None of these markers were associated with risk of late-onset cardiomyopathy. A combination of demographic, treatment, and clinical covariates predicted early-onset cardiomyopathy with reasonable accuracy (area under the curve [AUC], .76; 95% confidence interval [CI], .68 to .83), but prediction of late cardiomyopathy was poor (AUC, .59; 95% CI .53 to .67). The addition of genetic polymorphisms with marginal associations (odds ratios ≥1.3) did not enhance prediction for either early- or late-onset cardiomyopathy. Conventional cardiovascular risk factors influence the risk of both early- and late-onset cardiomyopathy in HCT survivors. Although certain genetic markers may influence the risk of early-onset disease, further work is required to validate previously reported findings and to determine how genetic information should be incorporated into clinically useful risk prediction models. PMID:26968791

  16. Takotsubo cardiomyopathy after acute myocardial infarction: An unusual case of possible association.

    PubMed

    Ferrara, Francesco; Baldi, Cesare; Malinconico, Marisa; Acri, Edvige; Cirillo, Annapaola; Citro, Rodolfo; Bossone, Eduardo

    2016-04-01

    Takotsubo cardiomyopathy is an acute reversible clinical condition mimicking an acute myocardial infarction. Although a normal coronary artery tree is frequently detected, the concurrence of coronary artery disease is a common finding in a substantial proportion of patients. We report an unusual case of takotsubo cardiomyopathy in post-menopausal women after emotional stress, occurring after inferior ST-segment elevation myocardial infarction. The possible association between takotsubo cardiomyopathy and coronary artery disease is discussed. PMID:24833638

  17. Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.

    PubMed

    Arrizza, Chiara; De Gottardi, Andrea; Foglia, Ezio; Baumgartner, Matthias; Gautschi, Matthias; Nuoffer, Jean-Marc

    2015-12-01

    Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention. Here, we present the reversal of a severe cardiomyopathy after liver transplantation in a patient with propionic acidemia and the long-term stability after ten years. Liver transplantation in patients with propionic acidemia may be considered a valid and long-lasting treatment when cardiomyopathy is progressive and unresponsive to medical therapy. PMID:26358860

  18. Ventricular arrhythmias in dilated cardiomyopathy as an independent prognostic hallmark. Italian Multicenter Cardiomyopathy Study (SPIC) Group.

    PubMed

    De Maria, R; Gavazzi, A; Caroli, A; Ometto, R; Biagini, A; Camerini, F

    1992-06-01

    Prevalence and characteristics of ventricular arrhythmias (VA) on Holter monitoring were evaluated in 218 patients with invasively documented idiopathic dilated cardiomyopathy to clarify their relation to pump dysfunction, and their prognostic role. VA were observed in 205 patients (94%) and were high grade (ventricular pairs or tachycardia) in 130 (60%). No simple or multiform ventricular premature complexes were present in 88 patients (group 1; 41%), ventricular pairs in 63 (group 2; 32%), and ventricular tachycardia in 67 (group 3; 27%). Only echocardiographic right ventricular dimensions (p less than 0.05) and prevalence of VA during effort (8% in group 1, 15% in group 2, and 14% in group 3; p = 0.0005) differed significantly between groups. VA severity, and number of ventricular premature beats and tachycardia episodes were not correlated to right/left ventricular dimensions and pump function indexes. During a mean follow-up of 29 +/- 16 months, 27 patients died from cardiac events, and 16 received transplants. Three-year survival probability was lower in groups 2 (0.82) and 3 (0.81) than in group 1 (0.94). By Cox multivariate analysis, VA severity (p less than 0.01) was a major independent predictor of prognosis after markers of ventricular dysfunction such as left ventricular ejection fraction (p less than 0.001) and stroke work index (p less than 0.001). PMID:1590236

  19. Hypertrophic Cardiomyopathy Registry (HCMR): The rationale and design of an international, observational study of hypertrophic cardiomyopathy

    PubMed Central

    Kramer, Christopher M.; Appelbaum, Evan; Desai, Milind Y.; Desvigne-Nickens, Patrice; DiMarco, John P.; Friedrich, Matthias G.; Geller, Nancy; Heckler, Sarahfaye; Ho, Carolyn Y.; Jerosch-Herold, Michael; Ivey, Elizabeth A.; Keleti, Julianna; Kim, Dong-Yun; Kolm, Paul; Kwong, Raymond Y.; Maron, Martin S.; Schulz-Menger, Jeanette; Piechnik, Stefan; Watkins, Hugh; Weintraub, William S.; Wu, Pan; Neubauer, Stefan

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease with a frequency as high as 1 in 200. In many cases, HCM is caused by mutations in genes encoding the different components of the sarcomere apparatus. HCM is characterized by unexplained left ventricular hypertrophy (LVH), myofibrillar disarray, and myocardial fibrosis. The phenotypic expression is quite variable. While the majority of patients with HCM are asymptomatic, serious consequences are experienced in a subset of affected individuals who present initially with sudden cardiac death (SCD) or progress to refractory heart failure (HF). The HCMR study is a National Heart Lung and Blood Institute (NHLBI)-sponsored 2750 patient, 41 site, international registry and natural history study designed to address limitations in extant evidence to improve prognostication in HCM (NCT01915615). In addition to collection of standard demographic, clinical, and echocardiographic variables, patients will undergo state-of-the-art cardiac magnetic resonance (CMR) for assessment of left ventricular (LV) mass and volumes as well as replacement scarring and interstitial fibrosis. In addition, genetic and biomarker analysis will be performed. HCMR has the potential to change the paradigm of risk stratification in HCM, using novel markers to identify those at higher risk. PMID:26299218

  20. How a left-to-right shunt may protect against haemodynamic deterioration in restrictive cardiomyopathy.

    PubMed

    Van Mieghem, Nicolas; Daenen, Wim; Budts, Werner

    2005-06-01

    Today, more and more children with complex heart lesions and underlying cardiomyopathies reach adulthood. This results in a wide range of new clinical problems encountered in later life. In particular, idiopathic restrictive cardiomyopathy is initially treated by medication to reduce symptoms, but at end-stage disease, heart or heart-lung transplantation becomes unavoidable. We describe the case of a patient with restrictive cardiomyopathy and a persistent extra-cardiac left-to-right shunt, where we hypothesize that the shunt may protect against haemodynamic deterioration in end-stage restrictive cardiomyopathie. PMID:15999476

  1. Takotsubo Cardiomyopathy in Two Patients without Any Cardiac Symptom on Maintenance Hemodialysis

    PubMed Central

    Ueda, Hiroyasu; Hiraoka, Hisatoyo

    2013-01-01

    Takotsubo cardiomyopathy is a disorder characterized by left ventricular apical ballooning and electrocardiographic changes in the absence of coronary artery disease. While reversible in many cases, the mechanism of this disorder remains unclear. The most frequent clinical symptoms of takotsubo cardiomyopathy on admission are chest pain and dyspnea, resembling acute myocardial infarction. Here, we describe two cases of takotsubo cardiomyopathy without chest pain or dyspnea in patients on maintenance hemodialysis. The asymptomatic nature of these two cases may be due to the patients being on hemodialysis. Periodic electrocardiograms (ECG) may be helpful in screening this population for asymptomatic takotsubo cardiomyopathy and in evaluating its incidence. PMID:24527248

  2. Absence of viral nucleic acids in early and late dilated cardiomyopathy

    PubMed Central

    Mahon, N; Zal, B; Arno, G; Risley, P; Pinto-Basto, J; McKenna, W; Davies, M; Baboonian, C

    2001-01-01

    OBJECTIVE—To investigate whether viral infection acts as a trigger factor for the development of dilated cardiomyopathy in genetically predisposed individuals with a family history of disease.
SETTING—Patients attending the cardiomyopathy unit in a cardiac tertiary referral centre.
DESIGN—Nested polymerase chain reaction (nPCR) was used to determine whether enteroviral, adenoviral, or cytomegaloviral nucleic acids were detectable in the myocardium of 19 asymptomatic relatives of patients with dilated cardiomyopathy; all these relatives had echocardiographic abnormalities thought to represent early disease. Explanted hearts from patients with end stage dilated cardiomyopathy were also studied and were compared with 25 controls (ischaemic heart disease (21), valvar heart disease (2), hypertrophic cardiomyopathy (1), restrictive cardiomyopathy (1)). Myocardial tissue from two fatal cases of culture positive coxsackie myocarditis was used as a positive control.
RESULTS—No viral nucleic acid was detected in any group other than in those with myocarditis. Spiking of random wells with purified recombinant viral nucleic acids confirmed the sensitivity and reproducibility of the assays.
CONCLUSIONS—Myocardial viral infection is not detectable in relatives of patients with dilated cardiomyopathy who are suspected of having early disease. There is no evidence that viruses act as a trigger factor for initiating the dilated cardiomyopathy in these patients.


Keywords: viral infection; dilated cardiomyopathy PMID:11711469

  3. Daily irrigation attenuates xylem abscisic acid concentration and increases leaf water potential of Pelargonium × hortorum compared with infrequent irrigation.

    PubMed

    Boyle, Richard K A; McAinsh, Martin; Dodd, Ian C

    2016-09-01

    The physiological response of plants to different irrigation frequencies may affect plant growth and water use efficiency (WUE; defined as shoot biomass/cumulative irrigation). Glasshouse-grown, containerized Pelargonium × hortorum BullsEye plants were irrigated either daily at 100% of plant evapotranspiration (ET) (well-watered; WW), or at 50% ET applied either daily [frequent deficit irrigation (FDI)] or cumulatively every 4 days [infrequent deficit irrigation (IDI)], for 24 days. Both FDI and IDI applied the same irrigation volume. Xylem sap was collected from the leaves, and stomatal conductance (gs ) and leaf water potential (Ψleaf ) measured every 2 days. As soil moisture decreased, gs decreased similarly under both FDI and IDI throughout the experiment. Ψleaf was maintained under IDI and increased under FDI. Leaf xylem abscisic acid (ABA) concentrations ([X-ABA]leaf ) increased as soil moisture decreased under both IDI and FDI, and was strongly correlated with decreased gs , but [X-ABA]leaf was attenuated under FDI throughout the experiment (at the same level of soil moisture as IDI plants). These physiological changes corresponded with differences in plant production. Both FDI and IDI decreased growth compared with WW plants, and by the end of the experiment, FDI plants also had a greater shoot fresh weight (18%) than IDI plants. Although both IDI and FDI had higher WUE than WW plants during the first 10 days of the experiment (when biomass did not differ between treatments), the deficit irrigation treatments had lower WUE than WW plants in the latter stages when growth was limited. Thus, ABA-induced stomatal closure may not always translate to increased WUE (at the whole plant level) if vegetative growth shows a similar sensitivity to soil drying, and growers must adapt their irrigation scheduling according to crop requirements. PMID:26910008

  4. Epinephrine Treatment is Infrequent and Biphasic Reactions Are Rare in Food-Induced Reactions During Oral Food Challenges in Children

    PubMed Central

    Järvinen, Kirsi M.; Amalanayagam, Sujitha; Shreffler, Wayne G.; Noone, Sally; Sicherer, Scott H.; Sampson, Hugh A.; Nowak-Węgrzyn, Anna

    2009-01-01

    Background Data about epinephrine utilization and biphasic reactions in childhood food-induced anaphylaxis during oral food challenges are scarce. Objective To determine the prevalence and risk factors of reactions requiring epinephrine and the rate of biphasic reactions during oral food challenges (OFCs) in children. Methods Reaction details of positive OFCs in children between 1999 and 2007 were collected using a computerized database. Selection of patients for OFCs was generally predicated on ≤50% likelihood of a positive challenge and a low likelihood of a severe reaction based on the clinical history, specific IgE levels, and skin prick tests (SPTs). Results A total of 436 of 1273 OFCs resulted in a reaction (34%). Epinephrine was administered in 50 challenges (11% of positive challenges, 3.9% overall); for egg (n=15, 16% of positive OFCs to egg), milk (n=14, 12%), peanut (n=10, 26%), tree nuts (n=4, 33%), soy (n=3, 7%), wheat (n=3, 9%), and fish (n=1, 9%). Reactions requiring epinephrine occurred in older children (median 7.9 vs. 5.8 years, P<0.001), and were more often caused by peanuts (P=0.006) when compared to reactions not treated with epinephrine. There was no difference in the gender, prevalence of asthma, history of anaphylaxis, specific IgE level, SPTs, or amount of food administered. Two doses of epinephrine were required in 3/50 patients (6%) reacting to wheat, cow’s milk, and pistachio. There was one (2%) biphasic reaction. No reaction resulted in life-threatening respiratory or cardiovascular compromise. Conclusion Older age and reactions to peanuts were risk factors for anaphylaxis during oral food challenges. Reactions requiring multiple doses of epinephrine and biphasic reactions were infrequent. PMID:20004784

  5. Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy

    PubMed Central

    Hershberger, Ray E.; Siegfried, Jill D.

    2011-01-01

    A great deal of progress has recently been made in the discovery and understanding of the genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a new diagnosis of idiopathic dilated cardiomyopathy (IDC), the clinical screening of 1st degree family members will reveal FDC in at least 20-35% of cases. Point mutations in 31 autosomal and 2 X-linked genes representing diverse gene ontogeny have been implicated in causing FDC, but account for only 30-35% of genetic cause. Next generation sequencing (NGS) methods have dramatically decreased sequencing costs, making clinical genetic testing feasible for extensive panels of DCM genes. NGS also provides opportunities to discover additional genetic cause of FDC and IDC. Guidelines for evaluation and testing of FDC and IDC are now available, and when combined with FDC genetic testing and counseling will bring FDC/IDC genetics to the forefront of cardiovascular genetic medicine. PMID:21492761

  6. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

    PubMed Central

    Guo, Wei; Schafer, Sebastian; Greaser, Marion L.; Radke, Michael H.; Liss, Martin; Govindarajan, Thirupugal; Maatz, Henrike; Schulz, Herbert; Li, Shijun; Parrish, Amanda M.; Dauksaite, Vita; Vakeel, Padmanabhan; Klaassen, Sabine; Gerull, Brenda; Thierfelder, Ludwig; Regitz-Zagrosek, Vera; Hacker, Timothy A.; Saupe, Kurt W.; Dec, G. William; Ellinor, Patrick T.; MacRae, Calum A.; Spallek, Bastian; Fischer, Robert; Perrot, Andreas; Özcelik, Cemil; Saar, Kathrin; Hubner, Norbert; Gotthardt, Michael

    2013-01-01

    Alternative splicing plays a major role in the adaptation of cardiac function exemplified by the isoform switch of titin, which adjusts ventricular filling. We previously identified a rat strain deficient in titin splicing. Using genetic mapping, we found a loss-of-function mutation in RBM20 as the underlying cause for the pathological titin isoform expression. Mutations in human RBM20 have previously been shown to cause dilated cardiomyopathy. We showed that the phenotype of Rbm20 deficient rats resembles the human pathology. Deep sequencing of the human and rat cardiac transcriptome revealed an RBM20 dependent regulation of alternative splicing. Additionally to titin we identified a set of 30 genes with conserved regulation between human and rat. This network is enriched for genes previously linked to cardiomyopathy, ion-homeostasis, and sarcomere biology. Our studies emphasize the importance of posttranscriptional regulation in cardiac function and provide mechanistic insights into the pathogenesis of human heart failure. PMID:22466703

  7. Endothelial cell-cardiomyocyte crosstalk in diabetic cardiomyopathy.

    PubMed

    Wan, Andrea; Rodrigues, Brian

    2016-08-01

    The incidence of diabetes is increasing globally, with cardiovascular disease accounting for a substantial number of diabetes-related deaths. Although atherosclerotic vascular disease is a primary reason for this cardiovascular dysfunction, heart failure in patients with diabetes might also be an outcome of an intrinsic heart muscle malfunction, labelled diabetic cardiomyopathy. Changes in cardiomyocyte metabolism, which encompasses a shift to exclusive fatty acid utilization, are considered a leading stimulus for this cardiomyopathy. In addition to cardiomyocytes, endothelial cells (ECs) make up a significant proportion of the heart, with the majority of ATP generation in these cells provided by glucose. In this review, we will discuss the metabolic machinery that drives energy metabolism in the cardiomyocyte and EC, its breakdown following diabetes, and the research direction necessary to assist in devising novel therapeutic strategies to prevent or delay diabetic heart disease. PMID:27288009

  8. The Safety of Exercise in Individuals With Cardiomyopathy.

    PubMed

    Finocchiaro, Gherardo; Sharma, Sanjay

    2016-04-01

    The cardiomyopathies are a heterogeneous group of primary myocardial diseases characterized by a propensity to fatal arrhythmias and are the leading cause of sudden cardiac death in young athletes. Apart from the underlying pathologic substrate, a combination of neurohormonal, mechanical, and oxidative stressors; dehydration; electrolyte abnormalities; and acid-base disturbances may trigger fatal arrhythmias during intensive exercise. Current consensus-based documents recommend that affected athletes abstain from most competitive sports, with the exception of those involving minimal dynamic or static components, to minimize the risk of sudden cardiac death. This article aims to describe the rationale underlying current recommendations and provides guidance for recreational exercise in many asymptomatic individuals. The article concludes with pragmatic recommendations for symptomatic patients with cardiomyopathy in whom physical activity is associated with beneficial effects on the quality and, possibly, the quantity of life. PMID:26907576

  9. Transient stress cardiomyopathies in the elderly: Clinical & Pathophysiologic considerations

    PubMed Central

    Chen, Michael A

    2012-01-01

    Transient stress-induced cardiomyopathies have been increasingly recognized and while rare, they tend to affect elderly women more than other demographic groups. One type, often called tako-tsubo cardiomyopathy (TTC), is typically triggered by significant emotional or physical stress and is associated with chest pain, electrocardiogram (ECG) changes and abnormal cardiac enzymes. Significant left ventricular regional wall motion abnormalities usually include an akinetic “ballooning” apex with normal or hyperdynamic function of the base. A second type, often called neurogenic stunned myocardium, typically associated with subarachnoid hemorrhage, also usually presents with ECG changes and positive enzymes, but the typical wall motion abnormalities seen include normal basal and apical left ventricular contraction with akinesis of the mid-cavity in a circumferential fashion. The pathophysiology, clinical care and typical courses, are reviewed. PMID:22783322

  10. Complete reversal of hypertensive cardiomyopathy after initiating combined antihypertensive therapy.

    PubMed

    Holl, Marijn J; van de Poll, Sweder W; Michels, Michelle

    2016-01-01

    Hypertensive cardiomyopathy is a common complication of hypertension, with a prevalence ranging from 12% to 26%. It is associated with an increased cardiac mortality and morbidity. Lifestyle changes and antihypertensive therapy usually have a significant, but relatively small effect on left ventricular hypertrophy (LVH), which is associated with a reduction in cardiovascular risk. In this paper, we describe a 39-year-old woman with severe LVH. On transthoracic echocardiogram there was concentric LVH, systolic function was a mildly reduced and there was diastolic dysfunction grade III. After only 6 months of therapy with a combination of antihypertensive agents, the left ventricular mass index was reduced by 29%, systolic function was normal and the diastolic dysfunction improved to grade I. This paper shows that in hypertensive cardiomyopathy, even severe LVH can be completely reversible. PMID:27060071

  11. Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy.

    PubMed

    Crombie, Duncan E; Pera, Martin F; Delatycki, Martin B; Pébay, Alice

    2016-06-01

    Friedreich ataxia (FRDA) is the most common of the inherited ataxias. It is an autosomal recessive disease characterised by degeneration of peripheral sensory neurons, regions of the central nervous system and cardiomyopathy. FRDA is usually due to homozygosity for trinucleotide GAA repeat expansions found within first intron of the FRATAXIN (FXN) gene, which results in reduced levels of the mitochondrial protein FXN. Reduced FXN protein results in mitochondrial dysfunction and iron accumulation leading to increased oxidative stress and cell death in the nervous system and heart. Yet the precise functions of FXN and the underlying mechanisms leading to disease pathology remain elusive. This is particularly true of the cardiac aspect of FRDA, which remains largely uncharacterized at the cellular level. Here, we summarise current knowledge on experimental models in which to study FRDA cardiomyopathy, with a particular focus on the use of human pluripotent stem cells as a disease model. PMID:27019046

  12. A case of pregnancy complicated with dilated cardiomyopathy 1X

    PubMed Central

    Oki, Shinya; Nagamatsu, Takeshi; Iriyama, Takayuki; Komatsu, Atsushi; Osuga, Yutaka; Fujii, Tomoyuki

    2015-01-01

    Dilated cardiomyopathy 1X (CMD1X) is characterized by dilated cardiomyopathy (DCM) with mildest limb-girdle muscle symptoms and normal intelligence. Compound heterozygous mutation in fukutin gene is known as its genetic cause. Here, we report a pregnancy case complicated with CMD1X. A 25-year-old primiparous woman, who had been diagnosed as CMD1X at the age of 19, was referred to our hospital at 6 weeks of gestation. In early pregnancy, the evaluation of her cardiac function showed ejection fraction 47% and NYHA class II. Worsening of cardiac function was observed from 30 weeks, manifesting reduced cardiac load with left ventricular dilatation and in-hospital bed rest was necessary. Elective cesarean section was performed at 35 weeks to prevent deterioration of cardiac function. The parameters of her cardiac function returned to the pre-pregnancy status in a month after delivery, whereas she realized persistent worsening of muscular weakness at postpartum. PMID:26566449

  13. An 'Omics' Perspective on Cardiomyopathies and Heart Failure.

    PubMed

    Raghow, Rajendra

    2016-09-01

    Pathological enlargement of the heart, represented by hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), occurs in response to many genetic and non-genetic factors. The clinical course of cardiac hypertrophy is remarkably variable, ranging from lifelong absence of symptoms to rapidly declining heart function and sudden cardiac death (SCD). Unbiased omics studies have begun to provide a glimpse into the molecular framework underpinning altered mechanotransduction, mitochondrial energetics, oxidative stress, and extracellular matrix in the heart undergoing physiological and pathological hypertrophy. Omics analyses indicate that post-transcriptional regulation of gene expression plays an overriding role in the normal and diseased heart. Studies to date highlight a need for more effective bioinformatics to better integrate patient omics data with their comprehensive clinical histories. PMID:27499035

  14. Reversion of Severe Mitral Insufficiency in Peripartum Cardiomyopathy Using Levosimendan

    PubMed Central

    Nieto Estrada, Victor H.; Molano Franco, Daniel L.; Valencia Moreno, Albert Alexander; Rojas Gambasica, Jose A.; Jaller Bornacelli, Yamil E.; Martinez Del Valle, Anacaona

    2015-01-01

    Idiopathic peripartum cardiomyopathy presenting with heart failure is a true diagnostic and treatment challenge. Goal oriented clinical management aims at the relapse of left ventricular systolic dysfunction. A 35-year-old patient on her 12th day post-delivery presents progressive signs of heart failure. Transthoracic echocardiography showed severe mitral insufficiency, mild left ventricular dysfunction, mild tricuspid insufficiency, severe pulmonary hypertension, and right atrial enlargement. With wet and cold heart failure signs, the patient was a candidate for inodilator cardiovascular support and volume depletion therapy. As the patient presented a persistent tachycardia at rest, levosimendan was chosen over dobutamine. Levosimendan was administered at a dose of 0.2 µg/kg/min during a period of 24 hours. After inodilator therapy, the patient’s signs and symptoms of heart failure began to decrease, showing improvement of dyspnea, mitral murmur grade went from IV/IV to II/IV, filling pressures and systemic and pulmonary resistance indexes decreased, arterial blood gases improved, and an echocardiography performed 72 h later showed non-dilated cardiomyopathy, mild cardiac contractile dysfunction, mild mitral insufficiency, type I diastolic dysfunction and improvement of pulmonary hypertension. Cardiovascular function in peripartum cardiomyopathy tends to go back to normality in 23-41% of the cases, but in a large group of patients, severe ventricle dysfunction remains months after initial symptoms. This article describes the diagnostic process of a patient with peripartum cardiomyopathy and a successful reversion of a severe case of mitral insufficiency using levosimendan as a new therapeutic strategy in this clinical context. PMID:26566415

  15. Noncompaction and Dilated Cardiomyopathy in a Patient with Schizophrenia

    PubMed Central

    Stöllberger, Claudia

    2016-01-01

    Objectives. Psychosis and left ventricular hypertrabeculation (or noncompaction) (LVHT) have not been described in the same patient. Here we report a patient with a long-term history of schizophrenia who was later diagnosed with dilated cardiomyopathy (dCMP) and LVHT. Case Report. A 47-year-old Caucasian male developed nondifferentiated schizophrenia at the age of 26 y. Since the age of 33 y he was regularly drinking alcohol. At the age of 47 y he developed heart failure. Transthoracic echocardiography showed an enlarged left ventricle, reduced systolic function, and surprisingly LVHT in the apical segment. Additionally, the left atrium was enlarged, the right ventricular cavities were mildly enlarged, and there were pulmonary hypertension and a small pericardial effusion. Cardiac MRI confirmed the echocardiographic findings. Since coronary angiography was normal, dilated cardiomyopathy was additionally diagnosed. Since he was taking clozapine during years, dilated cardiomyopathy could be due to not only alcohol consumption but also the long-term neuroleptic medication. Conclusions. LVHT may be associated with nondifferentiated psychosis. Management of LVHT is challenging in patients with psychosis due to poor compliance and adherence of these patients. Patients with LVHT and psychosis need particular attention since they usually take cardiotoxic drugs for a long time, which may further deteriorate the prognosis of LVHT. PMID:27547471

  16. Methylene Blue for Acute Septic Cardiomyopathy in a Burned Patient.

    PubMed

    Schlesinger, Joseph J; Burger, Christina F

    2016-01-01

    The objective of this case summary was to describe the use of methylene blue (MB) in a burned patient with acute septic cardiomyopathy. A 60-year-old Caucasian man was admitted to the Burn Intensive Care Unit with 45% TBSA burns after a house explosion. During the course of his care, he experienced hypotension that was refractory to fluid therapy and vasoactive medications. Echocardiography and right heart catheterization showed new acute systolic dysfunction with concurrent elevated systemic vascular resistance (SVR). High-dose inotropic agents did not improve cardiac function, and septic shock rendered him a poor candidate for mechanical intra-aortic balloon pump support. MB was administered to sensitize the myocardium to catecholamines and improve contractility with the goal of weaning the other vasoactive medications and diuresing for afterload reduction when hemodynamic stability was achieved. MB has been described in critical care medicine predominately for vasoplegia after cardiopulmonary bypass and vasodilatory septic shock., Our patient had acute septic cardiomyopathy that was refractory to standard pharmacologic approaches to inotropy with concurrent elevated SVR. Hypothesizing the differential temporal effect of inducible nitric oxide synthase on the vasculature and myocardium, we administered MB to improve contractility and support the impending vasodilatory effects of distributive shock. Although MB is not a new drug, the application for septic cardiomyopathy with a supranormal SVR is a unique application. Because of the risk profile associated with MB, we recommend drug monitoring utilizing serial echocardiography and/or right heart catheterization. PMID:25798807

  17. Diabetic Cardiomyopathy and Metabolic Remodeling of the Heart

    PubMed Central

    Battiprolu, Pavan K.; Lopez-Crisosto, Camila; Wang, Zhao V.; Nemchenko, Andriy; Lavandero, Sergio; Hill, Joseph A.

    2012-01-01

    The incidence and prevalence of diabetes mellitus are each increasing rapidly in societies around the globe. The majority of patients with diabetes succumb ultimately to heart disease, much of which stems from atherosclerotic disease and hypertension. However, the diabetic milieu is itself intrinsically noxious to the heart, and cardiomyopathy can develop independent of elevated blood pressure or coronary artery disease. This process, termed diabetic cardiomyopathy, is characterized by significant changes in the physiology, structure, and mechanical function of the heart. Presently, therapy for patients with diabetes focuses largely on glucose control, and attention to the heart commences with the onset of symptoms. When the latter develops, standard therapy for heart failure is applied. However, recent studies highlight that specific elements of the pathogenesis of diabetic heart disease are unique, raising the prospect of diabetes-specific therapeutic intervention. Here, we review recently unveiled insights into the pathogenesis of diabetic cardiomyopathy and associated metabolic remodeling with an eye toward identifying novel targets with therapeutic potential. PMID:23123443

  18. Pregnancy related complications in women with hypertrophic cardiomyopathy

    PubMed Central

    Thaman, R; Varnava, A; Hamid, M S; Firoozi, S; Sachdev, B; Condon, M; Gimeno, J R; Murphy, R; Elliott, P M; McKenna, W J

    2003-01-01

    Objectives: To determine whether pregnancy is well tolerated in hypertrophic cardiomyopathy. Setting: Referral clinic. Design: The study cohort comprised 127 consecutively referred women with hypertrophic cardiomyopathy. Forty (31.5%) underwent clinical evaluation before pregnancy. The remaining 87 (68.5%) were referred after their first pregnancy. All underwent history, examination, electrocardiography, and echocardiography. Pregnancy related symptoms and complications were determined by questionnaire and review of medical and obstetric records where available. Results: There were 271 pregnancies in total. Thirty six (28.3%) women reported cardiac symptoms in pregnancy. Over 90% of these women had been symptomatic before pregnancy. Symptoms deteriorated during pregnancy in fewer than 10%. Of the 36 women with symptoms during pregnancy, 30 had further pregnancies. Symptoms reoccurred in 18 (60%); symptomatic deterioration was not reported. Heart failure occurred postnatally in two women (1.6%). No complications were reported in 19 (15%) women who underwent general anaesthesia and in 22 (17.4%) women who received epidural anaesthesia, three of whom had a significant left ventricular outflow tract gradient at diagnosis after pregnancy. Three unexplained intrauterine deaths occurred in women taking cardiac medication throughout pregnancy. No echocardiographic or clinical feature was a useful indicator of pregnancy related complications. Conclusions: Most women with hypertrophic cardiomyopathy tolerate pregnancy well. However, rare complications can occur and therefore planned delivery and fetal monitoring are still required for some patients. PMID:12807849

  19. Restrictive myocardium with an unusual pattern of apical hypertrophic cardiomyopathy.

    PubMed

    Sato, Takuma; Matsuyama, Taka-Aki; Seguchi, Osamu; Murata, Yoshihiro; Sunami, Haruki; Yanase, Masanobu; Fujita, Tomoyuki; Ishibashi-Ueda, Hatsue; Nakatani, Takeshi

    2015-01-01

    Loeffler endocarditis is a fibrous restrictive cardiomyopathy thought to be caused by persistent eosinophilia. It is difficult to diagnose, and the prognosis is often poor if the underlying eosinophilia is not promptly recognized and treated. We describe the case of a middle-aged woman treated for hypertrophic cardiomyopathy first detected during a routine check-up at age 35years but whose symptoms gradually progressed over the next 14years. Right ventricular biopsy showed extensive fibrosis of the endocardial tissue, and right heart catheterization revealed right heart failure and a low cardiac output state. Ultimately, she became reliant on inotropic and mechanical cardiovascular support, but we were not able to bridge her to transplant. Autopsy findings were typical of endocardial fibroelastosis, but she had not suffered from any tropical disease or traveled to high-risk areas. The presence of abnormal capillary proliferation suggested a diagnosis of Loeffler endocarditis. Nonetheless, apart from a 6-month period of eosinophilia 7years before her death, a history of well-controlled asthma and several drug sensitivities, we were unable to definitively identify the disease trigger. It is critical to diagnose and treat the underlying eosinophilia of Loeffler endocarditis to avoid a poor prognosis. This case highlights the importance of considering the diagnosis of eosinophilic endomyocarditis in patients with an unusual pattern of apical hypertrophic cardiomyopathy (or myocardial fibrosis of unknown etiology), even when there is no apparent history of eosinophilia. PMID:25804825

  20. Takotsubo Cardiomyopathy in the Setting of Tension Pneumothorax

    PubMed Central

    Gale, Michael; Loarte, Pablo; Mirrer, Brooks; Mallet, Thierry; Salciccioli, Louis; Petrie, Alison; Cohen, Ronny

    2015-01-01

    Background. Takotsubo cardiomyopathy is defined as a transient left ventricular dysfunction, usually accompanied by electrocardiographic changes. The literature documents only two other cases of Takotsubo cardiomyopathy in the latter setting. Methods. A 78-year-old female presented to the ED with severe shortness of breath, hypertension, and tachycardia. On physical exam, heart sounds (S1 and S2) were regular and wheezing was noticed bilaterally. We found laboratory results with a WBC of 20.0 (103/μL), troponin of 16.52 ng/mL, CK-mb of 70.6%, and BNP of 177 pg/mL. The patient was intubated for acute hypoxemic respiratory failure. A chest X-ray revealed a large left-sided tension pneumothorax. Initial echocardiogram showed apical ballooning with a LVEF of 10–15%. A cardiac angiography revealed normal coronary arteries with no coronary disease. After supportive treatment, the patient's condition improved with a subsequent echocardiogram showing a LVEF of 60%. Conclusion. The patient was found to have Takotsubo cardiomyopathy in the setting of a tension pneumothorax. The exact mechanisms of ventricular dysfunction have not been clarified. However, multivessel coronary spasm or catecholamine cardiotoxicity has been suggested to have a causative role. We suggest that, in our patient, left ventricular dysfunction was induced by the latter mechanism related to the stress associated with acute pneumothorax. PMID:26366307

  1. Familial hypertrophic cardiomyopathy: vectorcardiographic findings in echocardiographically unaffected relative.

    PubMed Central

    Loperfido, F; Fiorilli, R; Digaetano, A; Di Gennaro, M; Santarelli, P; Bellocci, F; Coppola, E; Zecchi, P

    1982-01-01

    The electrocardiographic and vectorcardiographic (Frank system) features of the first degree relatives of subjects with documented familial hypertrophic cardiomyopathy were analysed. A total of nine affected members and 29 relatives were examined in four families. THe subjects were considered to be affected when the septal to free posterior wall thickness ratio exceeded 1.3 at M-mode echocardiography. Four relatives had asymmetric septal hypertrophy. Among 25 relatives without evidence of asymmetric septal hypertrophy, two over 20 years and 10 under 20 years of age showed increased voltage of QRS anterior forces (Qz amplitude greater than 0.80 mV) on the orthogonal electrocardiogram. The vectorcardiographic data of the relatives under 20 years of age without evidence of asymmetric septal hypertrophy (18 subjects) were compared with those of 38 normal control subjects of comparable age range. The young relatives without disproportionate septal hypertrophy had significantly greater Qz amplitude and Q/Rz ratio than the normal control subjects. In contrast, the echocardiographic data were not significantly different. We suggest that the electrocardiographic finding of abnormal anterior forces in one or more first degree relatives of subjects with documented hypertrophic cardiomyopathy may constitute a valuable aid in ascertaining the genetic transmission of the disease and in recognising affected members without echocardiographic evidence of hypertrophic cardiomyopathy. Images PMID:7200794

  2. Takotsubo Cardiomyopathy in the Setting of Tension Pneumothorax.

    PubMed

    Gale, Michael; Loarte, Pablo; Mirrer, Brooks; Mallet, Thierry; Salciccioli, Louis; Petrie, Alison; Cohen, Ronny

    2015-01-01

    Background. Takotsubo cardiomyopathy is defined as a transient left ventricular dysfunction, usually accompanied by electrocardiographic changes. The literature documents only two other cases of Takotsubo cardiomyopathy in the latter setting. Methods. A 78-year-old female presented to the ED with severe shortness of breath, hypertension, and tachycardia. On physical exam, heart sounds (S1 and S2) were regular and wheezing was noticed bilaterally. We found laboratory results with a WBC of 20.0 (103/μL), troponin of 16.52 ng/mL, CK-mb of 70.6%, and BNP of 177 pg/mL. The patient was intubated for acute hypoxemic respiratory failure. A chest X-ray revealed a large left-sided tension pneumothorax. Initial echocardiogram showed apical ballooning with a LVEF of 10-15%. A cardiac angiography revealed normal coronary arteries with no coronary disease. After supportive treatment, the patient's condition improved with a subsequent echocardiogram showing a LVEF of 60%. Conclusion. The patient was found to have Takotsubo cardiomyopathy in the setting of a tension pneumothorax. The exact mechanisms of ventricular dysfunction have not been clarified. However, multivessel coronary spasm or catecholamine cardiotoxicity has been suggested to have a causative role. We suggest that, in our patient, left ventricular dysfunction was induced by the latter mechanism related to the stress associated with acute pneumothorax. PMID:26366307

  3. [Gallium-67 myocardial imaging for the detection of adriamycin cardiomyopathy].

    PubMed

    Morozumi, T; Ishida, Y; Tani, A; Inui, M; Hori, M; Kitabatake, A; Kamada, T; Kondo, H; Kozuka, T; Kimura, K

    1990-05-01

    To detect Adriamycin cardiomyopathy, radionuclide myocardial imagings with Tl-201, Tc-99m pyrophosphate, I-123 metaiodobenzylguanidine and Ga-67 were performed in a 49 year-old-woman receiving Adriamycin (a total dose of 230 mg/m2) for the treatment of breast cancer. This patient demonstrated symptoms of congestive heart failure 2 months after the last intravenous administration. At the period of performing the radionuclide studies, echocardiographic LV ejection fraction (EF) was 22%. Despite severe deterioration of cardiac function, Tl-201 SPECT demonstrated no defect and Tc-99m pyrophosphate (PYP) SPECT demonstrated no positive finding. I-123 metaiodobenzylguanidine (MIBG) scintigraphy demonstrated no regional defect. However, I-123 MIBG washout rate during 4 hours was markedly enhanced, probably reflecting abnormalities of norepinephrine kinetics due to the progression of heart failure. Compared to these pharmaceuticals, Ga-67 was diffusely accumulated in the heart. Then, 5 months after the first study, when LV EF improved to 30% and congestive symptoms disappeared probably owing to beta-blockade therapy, myocardial accumulation of Ga-67 markedly reduced. It has been reported that Ga-67 accumulates in malignant tumor cells and leukocytes. Since, in Adriamycin cardiomyopathy, myocardial accumulation of leukocytes with myocardial fibrotic changes have been histologically demonstrated, the results of Ga-67 scintigraphy may reflect the accumulation of leukocytes. Thus, this case indicates that Ga-67 scintigraphy is advantageous for detecting Adriamycin cardiomyopathy and may be more useful than Tl-201 and Tc-99m PYP scintigraphies. PMID:2395231

  4. Limited Distribution of a Cardiomyopathy-Associated Variant in India

    PubMed Central

    Simonson, Tatum S.; Zhang, Yuhua; Huff, Chad D.; Xing, Jinchuan; Watkins, W. Scott; Witherspoon, David J.; Woodward, Scott R.; Jorde, Lynn B.

    2010-01-01

    Heart failure is a leading cause of death of people in South Asia, and cardiomyopathy is a major cause of heart failure. Myosin binding protein C (MYBPC3) is expressed in the heart muscle, where it regulates the cardiac response to adrenergic stimulation and is important for the structural integrity of the sarcomere. Mutations in the MYBPC3 gene are associated with hypertrophic or dilated cardiomyopathies. A 25-base-pair deletion in intron 32 causes skipping of the downstream exon and is associated with familial cardiomyopathy. To date, this deletion is found primarily in India and South Asia, although it is also found at low frequency in Southeast Asia. In order to better characterize the distribution of this variant, we determined its frequency in 447 individuals from 19 populations, including 10 populations from India and neighboring populations from Pakistan and Nepal. The deletion frequency is over 8% in some of our Indian samples, and it is not present in any of the populations we sampled outside of India. The differences in the deletion frequencies among populations in India are consistent with patterns of variation previously reported and with patterns we observed among Indian populations based on high-density SNP chip data. Our results indicate the MYBPC3 deletion is primarily found among Indian populations, and that its distribution is consistent with genome-wide patterns of variation in India. PMID:20201939

  5. Dysferlin deficiency confers increased susceptibility to coxsackievirus-induced cardiomyopathy.

    PubMed

    Wang, Chen; Wong, Jerry; Fung, Gabriel; Shi, Junyan; Deng, Haoyu; Zhang, Jingchun; Bernatchez, Pascal; Luo, Honglin

    2015-10-01

    Coxsackievirus infection can lead to viral myocarditis and its sequela, dilated cardiomyopathy, which represent major causes of cardiovascular mortality worldwide in children. Yet, the host genetic susceptible factors and the underlying mechanisms by which viral infection damages cardiac function remain to be fully resolved. Dysferlin is a transmembrane protein highly expressed in skeletal and cardiac muscles. In humans, mutations in the dysferlin gene can cause limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin deficiency has also been linked to cardiomyopathy. Defective muscle membrane repair has been suggested to be an important mechanism responsible for muscle degeneration in dysferlin-deficient patients and animals. Using both naturally occurring and genetically engineered dysferlin-deficient mice, we demonstrated that loss of dysferlin confers increased susceptibility to coxsackievirus infection and myocardial damage. More interestingly, we found that dysferlin is cleaved following coxsackieviral infection through the proteolytic activity of virally encoded proteinases, suggesting an important mechanism underlying virus-induced cardiac dysfunction. Our results in this study not only identify dysferlin deficiency as a novel host risk factor for viral myocarditis but also reveal a key mechanism by which coxsackievirus infection impairs cardiac function, leading to the development of dilated cardiomyopathy. PMID:26073173

  6. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

    PubMed

    Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A

    2016-01-15

    Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. PMID:26604139

  7. Update on Myocarditis and Inflammatory Cardiomyopathy: Reemergence of Endomyocardial Biopsy.

    PubMed

    Dominguez, Fernando; Kühl, Uwe; Pieske, Burkert; Garcia-Pavia, Pablo; Tschöpe, Carsten

    2016-02-01

    Myocarditis is defined as an inflammatory disease of the heart muscle and is an important cause of acute heart failure, sudden death, and dilated cardiomyopathy. Viruses account for most cases of myocarditis or inflammatory cardiomyopathy, which could induce an immune response causing inflammation even when the pathogen has been cleared. Other etiologic agents responsible for myocarditis include drugs, toxic substances, or autoimmune conditions. In the last few years, advances in noninvasive techniques such as cardiac magnetic resonance have been very useful in supporting diagnosis of myocarditis, but toxic, infectious-inflammatory, infiltrative, or autoimmune processes occur at a cellular level and only endomyocardial biopsy can establish the nature of the etiological agent. Furthermore, after the generalization of immunohistochemical and viral genome detection techniques, endomyocardial biopsy provides a definitive etiological diagnosis that can lead to specific treatments such as antiviral or immunosuppressive therapy. Endomyocardial biopsy is not commonly performed for the diagnosis of myocarditis due to safety reasons, but both right- and left endomyocardial biopsies have very low complication rates when performed by experienced operators. This document provides a state-of-the-art review of myocarditis and inflammatory cardiomyopathy, with special focus on the role of endomyocardial biopsy to establish specific treatments. PMID:26795929

  8. Molecular profiling of dilated cardiomyopathy that progresses to heart failure

    PubMed Central

    Wakimoto, Hiroko; Gorham, Joshua M.; Conner, David A.; Christodoulou, Danos C.; Parfenov, Michael G.; DePalma, Steve R.; Eminaga, Seda; Konno, Tetsuo; Seidman, Jonathan G.; Seidman, Christine E.

    2016-01-01

    Dilated cardiomyopathy (DCM) is defined by progressive functional and structural changes. We performed RNA-seq at different stages of disease to define molecular signaling in the progression from pre-DCM hearts to DCM and overt heart failure (HF) using a genetic model of DCM (phospholamban missense mutation, PLNR9C/+). Pre-DCM hearts were phenotypically normal yet displayed proliferation of nonmyocytes (59% relative increase vs. WT, P = 8 × 10−4) and activation of proinflammatory signaling with notable cardiomyocyte-specific induction of a subset of profibrotic cytokines including TGFβ2 and TGFβ3. These changes progressed through DCM and HF, resulting in substantial fibrosis (17.6% of left ventricle [LV] vs. WT, P = 6 × 10−33). Cardiomyocytes displayed a marked shift in metabolic gene transcription: downregulation of aerobic respiration and subsequent upregulation of glucose utilization, changes coincident with attenuated expression of PPARα and PPARγ coactivators -1α (PGC1α) and -1β, and increased expression of the metabolic regulator T-box transcription factor 15 (Tbx15). Comparing DCM transcriptional profiles with those in hypertrophic cardiomyopathy (HCM) revealed similar and distinct molecular mechanisms. Our data suggest that cardiomyocyte-specific cytokine expression, early fibroblast activation, and the shift in metabolic gene expression are hallmarks of cardiomyopathy progression. Notably, key components of these profibrotic and metabolic networks were disease specific and distinguish DCM from HCM. PMID:27239561

  9. Trace elements in diabetic cardiomyopathy: An electrophysiological overview

    PubMed Central

    Ozturk, Nihal; Olgar, Yusuf; Ozdemir, Semir

    2013-01-01

    There is a growing body of evidence that Diabetes Mellitus leads to a specific cardiomyopathy apart from vascular disease and bring about high morbidity and mortality throughout the world. Recent clinical and experimental studies have extensively demonstrated that this cardiomyopathy causes impaired cardiac performance manifested by early diastolic and late systolic dysfunction. This impaired cardiac performance most probably have emerged upon the expression and activity of regulatory proteins such as Na+/Ca2+ exchanger, sarcoplasmic reticulum Ca2+-ATPase, ryanodine receptor and phospholamban. Over years many therapeutic strategies have been recommended for treatment of diabetic cardiomyopathy. Lately, inorganic elements have been suggested to have anti-diabetic effects due to their suggested ability to regulate glucose homeostasis, reduce oxidative stress or suppress phosphatases. Recent findings have shown that trace elements exert many biological effects including insulin-mimetic or antioxidant activity and in this manner they have been recommended as potential candidates for treatment of diabetes-induced cardiac complications, an effect based on their modes of action. Some of these trace elements are known to play an essential role as component of enzymes and thus modulate the organ function in physiological and pathological conditions. Besides, they can also manipulate redox state of the channels via antioxidant properties and thus contribute to the regulation of [Ca2+]i homeostasis and cardiac ion channels. On account of little information about some trace elements, we discussed the effect of vanadium, selenium, zinc and tungstate on diabetic heart complications. PMID:23961319

  10. Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis.

    PubMed

    Haugaa, Kristina H; Haland, Trine F; Leren, Ida S; Saberniak, Jørg; Edvardsen, Thor

    2016-07-01

    This review aims to give an update on the pathogenesis, clinical manifestations, and diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Arrhythmogenic right ventricular cardiomyopathy is mainly an autosomal dominant inherited disease linked to mutations in genes encoding desmosomes or desmosome-related proteins. Classic symptoms include palpitations, cardiac syncope, and aborted cardiac arrest due to ventricular arrhythmias. Heart failure may develop in later stages. Diagnosis is based on the presence of major and minor criteria from the Task Force Criteria revised in 2010 (TFC 2010), which includes evaluation of findings from six different diagnostic categories. Based on this, patients are classified as having possible, borderline, or definite ARVC. Imaging is important in ARVC diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting structural and functional abnormalities, but importantly these findings may occur after electrical alterations and ventricular arrhythmias. Electrocardiograms (ECGs) and signal-averaged ECGs are analysed for depolarization and repolarization abnormalities, including T-wave inversions as the most common ECG alteration. Ventricular arrhythmias are common in ARVC and are considered a major diagnostic criterion if originating from the RV inferior wall or apex. Family history of ARVC and detection of an ARVC-related mutation are included in the TFC 2010 and emphasize the importance of family screening. Electrophysiological studies are not included in the diagnostic criteria, but may be important for differential diagnosis including RV outflow tract tachycardia. Further differential diagnoses include sarcoidosis, congenital abnormalities, myocarditis, pulmonary hypertension, dilated cardiomyopathy, and athletic cardiac adaptation, which may mimic ARVC. PMID:26498164

  11. Myocardial Recovery in Peripartum Cardiomyopathy: Prospective Comparison with Recent Onset Cardiomyopathy in Men and Non-Peripartum Women

    PubMed Central

    Cooper, Leslie T.; Mather, Paul J.; Alexis, Jeffrey D.; Pauly, Daniel F.; Torre-Amione, Guillermo; Wittstein, Ilan S.; Dec, G. William; Zucker, Mark; Narula, Jagat; Kip, Kevin; McNamara, Dennis M.

    2011-01-01

    Background Whether myocardial recovery occurs more frequently in peripartum cardiomyopathy (PPCM), than in recent onset cardiomyopathies in men and non-peripartum women has not been prospectively evaluated. This was examined through an analysis of outcomes in the Intervention in Myocarditis and Acute Cardiomyopathy 2 (IMAC2) registry. Methods and Results IMAC 2 enrolled 373 subjects with recent onset non-ischemic dilated cardiomyopathy. LVEF was assessed at entry and six months, and subjects followed for up to 4 years. Myocardial recovery was compared between men (group1), non-peripartum women (group 2) and subjects with PPCM (group 3). The cohort included 230 subjects in group 1, 104 in group 2, and 39 in group 3. The mean LVEF at baseline in groups 1, 2, and 3 was 0.23±0.08, 0.24±0.08, and 0.27±0.07 (p=0.04), and at six months was 0.39±0.12, 0.42±0.11, and 0.45±0.14 (p=0.007). Subjects in group 3 had a much greater likelihood of achieving an LVEF >0.50 at 6 months than groups 1 or 2 (19 %, 34%, and 48% respectively, p=0.002). Conclusions Prospective evaluation confirms myocardial recovery is greatest in women with PPCM, poorest in men, and intermediate in non-peripartum women. On contemporary therapy, nearly half of women with PPCM normalize cardiac function by six months. PMID:22196838

  12. Infrequent occurrence of new particle formation at a semi-rural location, Gadanki, in tropical Southern India

    NASA Astrophysics Data System (ADS)

    Kanawade, V. P.; Shika, S.; Pöhlker, C.; Rose, D.; Suman, M. N. S.; Gadhavi, H.; Kumar, Ashwini; Nagendra, S. M. Shiva; Ravikrishna, R.; Yu, Huan; Sahu, L. K.; Jayaraman, A.; Andreae, M. O.; Pöschl, U.; Gunthe, S. S.

    2014-09-01

    We report first measurements of ultrafine particles from a semi-rural location, Gadanki, from tropical Southern India. Measurements of particle number size distributions in the diameter range of 5 nm-32 μm were performed during 2 May-31 July 2012. The mean number concentrations of nucleation (NNUC), Aitken (NAIT), accumulation (NACCU), and total particles (NTOT) at this site were (1.1 ± 0.9) × 103 cm-3, (2.2 ± 1.3) × 103 cm-3, (1.5 ± 1.2) × 103 cm-3 and (4.8 ± 2.4) × 103 cm-3, respectively, comparable to other rural to semi-rural locations globally and declined as the season progressed, perhaps due to wet removal of aerosols with onset of monsoon in early June. Particle bursts in the nucleation mode size range (5-25 nm), followed by a sustained growth in size were observed very rarely (only 5 out of 79 observation days) at this site, less frequently than at most other locations around the world during May-July. Most factors affecting new particle formation (NPF) were similar on NPF and nonNPF event days, such as condensation sink, relative humidity, temperature, wind speed and direction, and mixing layer height. Thus, the infrequent occurrence of NPF at our site appeared to be linked to lower precursor gas concentrations and weak gas-phase oxidation chemistry due to diminished solar radiation on persistently cloudy days with the onset of the monsoon in early June over this region. The derived particle growth rates (GR > 5 nm) and formation rates of 5 nm particles (J5) ranged from 2.2 to 4.7 nm h-1 and 0.4-2.4 cm-3 s-1, with a mean and standard deviation of 3.4 ± 0.9 nm h-1 and 1.2 ± 2.3 cm-3 s-1, respectively, comparable to previous investigations at rural to semi-rural locations. The observed behavior in aerosol and meteorological parameters on NPF and nonNPF event days appeared to be distinctive compared to other rural to urban locations across the globe. However, this distinct behavior is limited and restricted to this site and season of the year, and

  13. Arrhythmogenic Cardiomyopathy in a Patient With a Rare Loss‐of‐Function KCNQ1 Mutation

    PubMed Central

    Xiong, Qinmei; Cao, Qing; Zhou, Qiongqiong; Xie, Jinyan; Shen, Yang; Wan, Rong; Yu, Jianhua; Yan, Sujuan; Marian, Ali J.; Hong, Kui

    2015-01-01

    Background Ventricular tachycardia (VT) is a common manifestation of advanced cardiomyopathies. In a subset of patients with dilated cardiomyopathy, VT is the initial and the cardinal manifestation of the disease. The molecular genetic basis of this subset of dilated cardiomyopathy is largely unknown. Methods and Results We identified 10 patients with dilated cardiomyopathy who presented with VT and sequenced 14 common causal genes for cardiomyopathies and arrhythmias. Functional studies included cellular patch clamp, confocal microscopy, and immunoblotting. We identified nonsynonymous variants in 4 patients, including a rare missense p.R397Q mutation in the KCNQ1 gene in a 60‐year‐old man who presented with incessant VT and had mild cardiac dysfunction. The p.R397Q mutation was absent in an ethnically matched control group, affected a conserved amino acid, and was predicted by multiple algorithms to be pathogenic. Co‐expression of the mutant KCNQ1 with its partner unit KCNE1 was associated with reduced tail current density of slowly activating delayed rectifier K+ current (IKs). The mutation reduced membrane localization of the protein. Conclusions Dilated cardiomyopathy with an initial presentation of VT may be a forme fruste of arrhythmogenic cardiomyopathy caused by mutations in genes encoding the ion channels. The findings implicate KCNQ1 as a possible causal gene for arrhythmogenic cardiomyopathy. PMID:25616976

  14. Stress (Tako-Tsubo) Cardiomyopathy Following Radiofrequency Ablation of a Liver Tumor: A Case Report

    SciTech Connect

    Joo, Ijin; Lee, Jeong Min Han, Joon Koo; Choi, Byung Ihn; Park, Eun-Ah

    2011-02-15

    Stress cardiomyopathy is characterized by transient left ventricular dysfunction occurring in the absence of obstructive coronary disease. It is precipitated by acute emotional or physical stress. We present a case of stress cardiomyopathy which developed during hepatic radiofrequency ablation of hepatocellular carcinoma.

  15. Association of a congenital long QT syndrome type 1 with Takotsubo cardiomyopathy.

    PubMed

    El-Battrawy, Ibrahim; Behnes, Michael; Borggrefe, Martin; Akin, Ibrahim

    2016-08-01

    The occurrence of takotsubo cardiomyopathy in a patient with congenital long QT syndrome has rarely been described. This case report discusses the occurrence of a clinically overt takotsubo cardiomyopathy accompanied by congenital long QT syndrome type 1 in a female patient. PMID:27525086

  16. [Value of nuclear magnetic resonance tomography and first-pass radionuclide ventriculography in cardiomyopathies].

    PubMed

    Baumgartl, W; Maccio, A; Zilch, H G; Held, P; Schad, N; Hötzinger, H

    1986-01-01

    12 patients with cardiomyopathy were examined by MRT and first pass angiocardiography. MRT provides detailed images of cardiac anatomy and abnormalities without using any contrast medium. The first pass method is an excellent complement to MRT. The functional imaging describes regional wall motion of myocardium exactly. Both non-invasive methods are useful for the diagnosis of cardiomyopathy. PMID:3033967

  17. A Rare Case of Renal Infarct due to Noncompaction Cardiomyopathy: A Case Report and Literature Review

    PubMed Central

    Chen, On; Uppal, Nupur Nippun; Batul, Syeda Atiqa; Moskovits, Norbert; Shetty, Vijay; Shani, Jacob

    2016-01-01

    Left ventricular noncompaction cardiomyopathy is a rare myocardial disorder which results from failure of left ventricle to compact in embryogenesis. We present a case of a 53-year-old female who came because of abdominal pain and was found to have renal infarct secondary to noncompaction cardiomyopathy. PMID:27022488

  18. Impact of cardiac magnetic resonance imaging in non-ischemic cardiomyopathies

    PubMed Central

    Kalisz, Kevin; Rajiah, Prabhakar

    2016-01-01

    Non-ischemic cardiomyopathies include a wide spectrum of disease states afflicting the heart, whether a primary process or secondary to a systemic condition. Cardiac magnetic resonance imaging (CMR) has established itself as an important imaging modality in the evaluation of non-ischemic cardiomyopathies. CMR is useful in the diagnosis of cardiomyopathy, quantification of ventricular function, establishing etiology, determining prognosis and risk stratification. Technical advances and extensive research over the last decade have resulted in the accumulation of a tremendous amount of data with regards to the utility of CMR in these cardiomyopathies. In this article, we review CMR findings of various non-ischemic cardiomyopathies and focus on current literature investigating the clinical impact of CMR on risk stratification, treatment, and prognosis. PMID:26981210

  19. An experimental approach to study the function of mitochondria in cardiomyopathy

    PubMed Central

    Chung, Youn Wook; Kang, Seok-Min

    2015-01-01

    Cardiomyopathy is an inherited or acquired disease of the myocardium, which can result in severe ventricular dysfunction. Mitochondrial dysfunction is involved in the pathological process of cardiomyopathy. Many dysfunctions in cardiac mitochondria are consequences of mutations in nuclear or mitochondrial DNA followed by alterations in transcriptional regulation, mitochondrial protein function, and mitochondrial dynamics and energetics, presenting with associated multisystem mitochondrial disorders. To ensure correct diagnosis and optimal management of mitochondrial dysfunction in cardiomyopathy caused by multiple pathogenesis, multidisciplinary approaches are required, and to integrate between clinical and basic sciences, ideal translational models are needed. In this review, we will focus on experimental models to provide insights into basic mitochondrial physiology and detailed underlying mechanisms of cardiomyopathy and current mitochondria-targeted therapies for cardiomyopathy. [BMB Reports 2015; 48(10): 541-548] PMID:26198095

  20. An Upgrade on the Rabbit Model of Anthracycline-Induced Cardiomyopathy: Shorter Protocol, Reduced Mortality, and Higher Incidence of Overt Dilated Cardiomyopathy

    PubMed Central

    Talavera, Jesús; Fernández-Del-Palacio, María Josefa; García-Nicolás, Obdulio; Seva, Juan; Brooks, Gavin; Moraleda, Jose M.

    2015-01-01

    Current protocols of anthracycline-induced cardiomyopathy in rabbits present with high premature mortality and nephrotoxicity, thus rendering them unsuitable for studies requiring long-term functional evaluation of myocardial function (e.g., stem cell therapy). We compared two previously described protocols to an in-house developed protocol in three groups: Group DOX2 received doxorubicin 2 mg/kg/week (8 weeks); Group DAU3 received daunorubicin 3 mg/kg/week (10 weeks); and Group DAU4 received daunorubicin 4 mg/kg/week (6 weeks). A cohort of rabbits received saline (control). Results of blood tests, cardiac troponin I, echocardiography, and histopathology were analysed. Whilst DOX2 and DAU3 rabbits showed high premature mortality (50% and 33%, resp.), DAU4 rabbits showed 7.6% premature mortality. None of DOX2 rabbits developed overt dilated cardiomyopathy; 66% of DAU3 rabbits developed overt dilated cardiomyopathy and quickly progressed to severe congestive heart failure. Interestingly, 92% of DAU4 rabbits showed overt dilated cardiomyopathy and 67% developed congestive heart failure exhibiting stable disease. DOX2 and DAU3 rabbits showed alterations of renal function, with DAU3 also exhibiting hepatic function compromise. Thus, a shortened protocol of anthracycline-induced cardiomyopathy as in DAU4 group results in high incidence of overt dilated cardiomyopathy, which insidiously progressed to congestive heart failure, associated to reduced systemic compromise and very low premature mortality. PMID:26788502

  1. Simultaneous interstitial pneumonitis and cardiomyopathy induced by venlafaxine* **

    PubMed Central

    Ferreira, Pedro Gonçalo; Costa, Susana; Dias, Nuno; Ferreira, António Jorge; Franco, Fátima

    2014-01-01

    Venlafaxine is a serotonin-norepinephrine reuptake inhibitor used as an antidepressant. Interindividual variability and herb-drug interactions can lead to drug-induced toxicity. We report the case of a 35-year-old female patient diagnosed with synchronous pneumonitis and acute cardiomyopathy attributed to venlafaxine. The patient sought medical attention due to dyspnea and dry cough that started three months after initiating treatment with venlafaxine for depression. The patient was concomitantly taking Centella asiatica and Fucus vesiculosus as phytotherapeutic agents. Chest CT angiography and chest X-ray revealed parenchymal lung disease (diffuse micronodules and focal ground-glass opacities) and simultaneous dilated cardiomyopathy. Ecocardiography revealed a left ventricular ejection fraction (LVEF) of 21%. A thorough investigation was carried out, including BAL, imaging studies, autoimmune testing, right heart catheterization, and myocardial biopsy. After excluding other etiologies and applying the Naranjo Adverse Drug Reaction Probability Scale, a diagnosis of synchronous pneumonitis/cardiomyopathy associated with venlafaxine was assumed. The herbal supplements taken by the patient have a known potential to inhibit cytochrome P450 enzyme complex, which is responsible for the metabolization of venlafaxine. After venlafaxine discontinuation, there was rapid improvement, with regression of the radiological abnormalities and normalization of the LVEF. This was an important case of drug-induced cardiopulmonary toxicity. The circumstantial intake of inhibitors of the CYP2D6 isoenzyme and the presence of a CYP2D6 slow metabolism phenotype might have resulted in the toxic accumulation of venlafaxine and the subsequent clinical manifestations. Here, we also discuss why macrophage-dominant phospholipidosis was the most likely mechanism of toxicity in this case. PMID:25029655

  2. Naproxen aggravates doxorubicin-induced cardiomyopathy in rats

    PubMed Central

    Pathan, Rahila Ahmad; Singh, Bhulan Kumar; Pillai, K.K.; Dubey, Kiran

    2010-01-01

    Background: The repercussion of the heated dispute on cyclooxygenase-2 (COX-2) selective nonsteroidal anti-inflammatory drugs (NSAIDs) led to the national and international withdrawal of several of the recently introduced coxibs. Further debate and research have highlighted risks of the classical NSAIDs too. There is much controversy about the cardiovascular safety of a nonselective NSAID naproxen (NAP) and its possible cardioprotective effect. Objectives: The study was undertaken to determine the cardiovascular effects of NAP on doxorubicin-induced cardiomyopathy in rats. Materials and Methods: Male albino rats received a single i.p. injection of normal saline (normal control group) and doxorubicin (DOX) 15 mg/kg (toxic control group). Naproxen was administered alone (50 mg/kg/day, p.o.) and in combination with DOX and DOX + trimetazidine (TMZ) (10 mg/kg/day, p.o.) for 5 days after 24 h of DOX treatment. DOX-induced cardiomyopathy was assessed in terms of increased activities of serum lactate dehydrogenase (LDH), tissue thiobarbituric acid reactive substances (TBARS) and decreased activities of myocardial glutathione, superoxide dismutase and catalase, followed by transmission electron microscopy of the cardiac tissue. Results: Doxorubicin significantly increased oxidative stress as evidenced by increased levels of LDH and TBARS and decreased antioxidant enzymes levels. Both biochemical and electron microscopic studies revealed that NAP itself was cardiotoxic and aggravated DOX-induced cardiomyopathy and abolished the protective effect of TMZ in rats. Conclusions: This study indicates that NAP has the potential to worsen the situation in patients with cardiovascular disease. Therefore, it should be used cautiously in patients with compromised cardiac function. PMID:20606837

  3. Role of Interleukin-1 in Radiation-Induced Cardiomyopathy

    PubMed Central

    Mezzaroma, Eleonora; Mikkelsen, Ross B; Toldo, Stefano; Mauro, Adolfo G; Sharma, Khushboo; Marchetti, Carlo; Alam, Asim; Van Tassell, Benjamin W; Gewirtz, David A; Abbate, Antonio

    2015-01-01

    Thoracic X-ray therapy (XRT), used in cancer treatment, is associated with increased risk of heart failure. XRT-mediated injury to the heart induces an inflammatory response leading to cardiomyopathy. The aim of this study was to determine the role of interleukin (IL)-1 in response to XRT injury to the heart and on the cardiomyopathy development in the mouse. Female mice with genetic deletion of the IL-1 receptor type I (IL-1R1 knockout mice [IL-1R1 KO]) and treatment with recombinant human IL-1 receptor antagonist anakinra, 10 mg/kg twice daily for 7 d, were used as independent approaches to determine the role of IL-1. Wild-type (wt) or IL-1R1 KO mice were treated with a single session of XRT (20 or 14 gray [Gy]). Echocardiography (before and after isoproterenol challenge) and left ventricular (LV) catheterization were performed to evaluate changes in LV dimensions and function. Masson’s trichrome was used to assess myocardial fibrosis and pericardial thickening. After 20 Gy, the contractile reserve was impaired in wt mice at d 3, and the LV ejection fraction (EF) was reduced after 4 months when compared with sham-XRT. IL-1R1 KO mice had preserved contractile reserve at 3 d and 4 months and LVEF at 4 months after XRT. Anakinra treatment for 1 d before and 7 d after XRT prevented the impairment in contractile reserve. A significant increase in LV end-diastolic pressure, associated with increased myocardial interstitial fibrosis and pericardial thickening, was observed in wt mice, as well as in IL-1R1 KO–or anakinra-treated mice. In conclusion, induction of IL-1 by XRT mediates the development of some, such as the contractile impairment, but not all aspects of the XRT-induced cardiomyopathy, such as myocardial fibrosis or pericardial thickening. PMID:25822795

  4. Promoter DNA demethylation of Keap1 gene in diabetic cardiomyopathy

    PubMed Central

    Liu, Zhong-Zhi; Zhao, Xiang-Zhi; Zhang, Xue-Song; Zhang, Mei

    2014-01-01

    Researches have shown that the onset of diabetes is closely associated with oxidative stress and the chronic exposure leads to the development of complications such as diabetic cardiomyopathy. One of the central adaptive responses against the oxidative stresses is the activation of the nuclear transcriptional factor, NF-E2-related factor 2 (Nrf2), which then activates more than 20 different antioxidative enzymes. Kelch-like ECH associated protein 1 (Keap1) targets and binds to Nrf2 for proteosomal degradation. The aim of the present study was to investigate the status of Nrf2 mediated antioxidant system in myocardial biopsies of non-diabetic (NDM) and type-2 diabetic (DM-T2) cardiomyopathy patients. The western blot analysis of antioxidant proteins, real-time PCR analysis of Nrf2/Keap1 gene and bisulphate DNA sequencing analysis to study the methylation status of the CpG islands of Keap1 promoter DNA were performed. The immunoblot analysis showed the decreased level of antioxidant proteins other than Keap1 in the diabetic cardiopathy patients. Similarly, mRNA levels of Keap1 showed 5-fold increase in diabetic patients. Further analysis on promoter region of Keap1 gene revealed 80% demethylation in diabetic patients. Altogether, our results indicated that demethylation of the CpG islands in the Keap1 promoter will activate the expression of Keap1 protein, which then increases the targeting of Nrf2 for proteosomal degradation. Decreased Nrf2 activity represses the transcription of many antioxidant enzyme genes and alters the redox-balance up on diabetes. Thus, our study clearly demonstrates the failure of Nrf2 mediated antioxidant system revealed in biopsies of diabetic cardiomyopathy. PMID:25674242

  5. Sorbitol accumulation in heart: Implication for diabetic cardiomyopathy

    SciTech Connect

    Nakada, Tustomu; Kwee, I.L. )

    1989-01-01

    Sorbitol levels in heart were determined in streptozotocin-induced diabetic rats. Significantly higher levels were found in hearts of diabetic rats compared to normal rats. The findings are compatible with either significantly higher de novo synthesis of sorbitol in heart than is generally believed or uptake of circulating sorbitol by heart as previously indicated by nuclear magnetic resonance (NMR) in vivo metabolic imaging. Sorbitol accumulation in heart tissue may play a role in the pathogenesis of diabetic cardiomyopathy as has been implicated in cataract formation.

  6. Using Genetic Testing to Guide Therapeutic Decisions in Cardiomyopathy

    PubMed Central

    Lakdawala, Neal K

    2013-01-01

    Opinion statement Genetic analysis of human cardiomyopathy has rapidly transitioned from a strictly research endeavor to a diagnostic tool readily available to clinicians across the globe. In contemporary practice, genetic testing improves the efficiency of family evaluations and clarifies the etiology of ambiguous clinical presentations. The great promise of genetic diagnosis is to enable preventative therapies for individuals at high risk of future disease development, a strategy that is under active clinical investigation. However, in the present and future, careful interpretation of DNA sequence variation is critical, and can be ensured by referral to a specialized cardiovascular genetics clinic. PMID:23794152

  7. Inverted Takotsubo cardiomyopathy after attempted suicidal hanging--two cases.

    PubMed

    Sengupta, Shantanu; Mungulmare, Kunda; Wadaskar, Nitin; Pande, Abhishek

    2016-04-01

    We report two cases of "Inverted Takotsubo cardiomyopathy" following attempted suicidal hanging. Both the patients presented with heart failure and had desaturation 8-12h after the suicidal attempt. Electrocardiography (ECG) showed ischemic changes. On echocardiography, the left ventricle (LV) showed ballooning and hypokinesia of the basal segments with apical sparing. Both patients underwent coronary angiograms considering the possibility of acute coronary syndrome. However, their coronary angiograms were normal. After 3-4 days of hospitalization, both recovered; their ECG had reversed and the LV contractility was normal on echocardiography. PMID:27056654

  8. Familial occurrence of bovine dilated cardiomyopathy in Denmark.

    PubMed

    Leifsson, P S; Agerholm, J S

    2004-01-01

    Bovine dilated cardiomyopathy (BDCM) is a hereditary disease genetically related to the Canadian Holstein sire Montwick Red Apple Sovereign (MRAS). The occurrence of this disorder in the Red Danish Dairy breed, Holsteins, and Red Holsteins in Denmark is reported. Fourteen cases were diagnosed during a 13-year period. All suffered from congestive heart failure because of progressive myocardial fibrosis. Pedigree information was available in 12 cases revealing both maternal and paternal relationship to MRAS. Several sires were identified as carriers of BDCM. These sires originated from breeding lines used to upgrade Danish cattle populations. The findings indicate that BDCM is a potential health problem for Danish cattle. PMID:15533113

  9. Sports and Exercise in Athletes with Hypertrophic Cardiomyopathy.

    PubMed

    Alpert, Craig; Day, Sharlene M; Saberi, Sara

    2015-07-01

    Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease and one of the most common causes of sudden cardiac death (SCD). Current guidelines restrict the participation of patients with HCM in competitive sports, limiting the health benefits of exercise. However, many individuals with HCM have safely participated in sports, with a low incidence of SCD. Improved stratification of patients and desired activity may allow most individuals with HCM to engage in physical activity safely. Therefore, physicians should create an individualized approach in guiding each patient with HCM eager to enjoy the benefits of physical activity in a safe manner. PMID:26100424

  10. Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

    PubMed Central

    Tomasov, Pavol; Villard, Eric; Faludi, Reka; Melacini, Paola; Lossie, Janine; Lohmann, Nadine; Richard, Pascale; De Bortoli, Marzia; Angelini, Annalisa; Varga-Szemes, Akos; Sperling, Silke R.; Simor, Tamás; Veselka, Josef; Özcelik, Cemil; Charron, Philippe

    2016-01-01

    Introduction Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy. Material and methods We analyzed 389 patients, including cohorts of patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC). The 28 coding exons of the NEBL gene were sequenced. Further bioinformatic analysis was used to distinguish variants. Results In total, we identified six very rare heterozygous missense mutations in NEBL in 7 different patients (frequency 1.8%) in highly conserved codons. The mutations were not detectable in 320 Caucasian sex-matched unrelated individuals without cardiomyopathy and 192 Caucasian sex-matched blood donors without heart disease. Known cardiomyopathy genes were excluded in these patients. The mutations p.H171R and p.I652L were found in 2 HCM patients. Further, p.Q581R and p.S747L were detected in 2 DCM patients, while the mutation p.A175T was identified independently in two unrelated patients with DCM. One LVNC patient carried the mutation p.P916L. All HCM and DCM related mutations were located in the nebulin-like repeats, domains responsible for actin binding. Interestingly, the mutation associated with LVNC was located in the C-terminal serine-rich linker region. Conclusions Our data suggest that NEBL mutations may cause various cardiomyopathies. We herein describe the first NEBL mutations in HCM and LVNC. Our findings underline the notion that the cardiomyopathies are true allelic diseases. PMID:27186169

  11. [State of diagnostics and therapy of inflammatory cardiomyopathie].

    PubMed

    Schultheiss, H P; Kühl, U

    2008-01-01

    Myocardial inflammation of cardiac muscle is caused by intramyocardial infiltration of immunological competent cells. Etiologically, the relevant factors are the direct or indirect influence of infectious pathogens, toxic, chemical or physical agents, allergic-hyperergic reactions and myocardial inflammatory events in the context of systemic diseases. Clinically significant infections include cardiotropic viruses, which are capable of causing acute or chronic damage to the myocardium under certain conditions. The wide variety of etiologies in inflammatory cardiomyopathy and its heterogeneous clinical presentations have impeded patients identification and consensus on the most appropriate diagnostic criteria and specific therapeutic strategies. Although the Dallas criteria have standardized the histological definition of active myocarditis, the recognition of true etiologies of acute and chronic stages of inflammatory cardiomyopathies require additional and more sensitive markers of tissue inflammation and molecular biological identification of responsible infectious agents. Actually, only biopsy-based diagnosis and characterization of patients allow identification of patients who may get benefit from specific immunosuppressive or anti-viral treatment strategies. PMID:18210028

  12. Cardiomyocyte Regeneration in the mdx Mouse Model of Nonischemic Cardiomyopathy

    PubMed Central

    Laval, Steven; Owens, William Andrew

    2015-01-01

    Endogenous regeneration has been demonstrated in the mammalian heart after ischemic injury. However, approximately one-third of cases of heart failure are secondary to nonischemic heart disease and cardiac regeneration in these cases remains relatively unexplored. We, therefore, aimed at quantifying the rate of new cardiomyocyte formation at different stages of nonischemic cardiomyopathy. Six-, 12-, 29-, and 44-week-old mdx mice received a 7 day pulse of BrdU. Quantification of isolated cardiomyocyte nuclei was undertaken using cytometric analysis to exclude nondiploid nuclei. Between 6–7 and 12–13 weeks, there was a statistically significant increase in the number of BrdU-labeled nuclei in the mdx hearts compared with wild-type controls. This difference was lost by the 29–30 week time point, and a significant decrease in cardiomyocyte generation was observed in both the control and mdx hearts by 44–45 weeks. Immunohistochemical analysis demonstrated BrdU-labeled nuclei exclusively in mononucleated cardiomyocytes. This study demonstrates cardiomyocyte regeneration in a nonischemic model of mammalian cardiomyopathy, controlling for changes in nuclear ploidy, which is lost with age, and confirms a decrease in baseline rates of cardiomyocyte regeneration with aging. While not attempting to address the cellular source of regeneration, it confirms the potential utility of innate regeneration as a therapeutic target. PMID:25749191

  13. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

    PubMed

    Brodehl, Andreas; Ferrier, Raechel A; Hamilton, Sara J; Greenway, Steven C; Brundler, Marie-Anne; Yu, Weiming; Gibson, William T; McKinnon, Margaret L; McGillivray, Barbara; Alvarez, Nanette; Giuffre, Michael; Schwartzentruber, Jeremy; Gerull, Brenda

    2016-03-01

    Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young ages resulting in early heart transplantation. Familial forms are mainly caused by mutations in sarcomere proteins and demonstrate a common genetic etiology with other inherited cardiomyopathies. Using next-generation sequencing, we identified two novel missense variants (p.S1624L; p.I2160F) in filamin-C (FLNC), an actin-cross-linking protein mainly expressed in heart and skeletal muscle, segregating in two families with autosomal-dominant RCM. Affected individuals presented with heart failure due to severe diastolic dysfunction requiring heart transplantation in some cases. Histopathology of heart tissue from patients of both families showed cytoplasmic inclusions suggesting protein aggregates, which were filamin-C specific for the p.S1624L by immunohistochemistry. Cytoplasmic aggregates were also observed in transfected myoblast cell lines expressing this mutant filamin-C indicating further evidence for its pathogenicity. Thus, FLNC is a disease gene for autosomal-dominant RCM and broadens the phenotype spectrum of filaminopathies. PMID:26666891

  14. Diagnosis, prevalence, and screening of familial dilated cardiomyopathy

    PubMed Central

    Sweet, Mary; Taylor, Matthew R.G.; Mestroni, Luisa

    2016-01-01

    Introduction Dilated cardiomyopathy (DCM) is the most common cardiomyopathy and occurs often in families. As an inherited disease, understanding the significance of diagnostic procedures and genetic screening within families is of utmost importance. Areas covered Genetic studies have shown that in 30–40% of familial DCM (FDC) cases a causative genetic mutation can be identified. Successful genetic analysis is highly dependent on close examination of patient and family history, and clinical guidelines exist recommending genetic testing to aid in the evaluation of family members at risk of developing FDC. Clinical genetic testing offers a resource for families to identify the etiology of their disease, and in some cases may provide clinical prognostic insight. Expert Opinion As an inherited disease, future FCD studies will focus on elucidating the remaining 60–70% of genetic causes in inherited cases and the pathogenic mechanisms leading to the phenotype. Specifically, a focus on regulatory regions, copy number variation, genetic and environmental modifiers and functional confirmatory investigations will be essential.

  15. Commentary on 2 Cases of Takotsubo Cardiomyopathy Involving Psychotropic Medication.

    PubMed

    Verduin, Marcia L

    2016-05-01

    Takotsubo cardiomyopathy, also known as Takotsubo syndrome (TTS), is a cardiac syndrome first described in Japan in 1990 that typically follows an acute physical or psychiatric stressor, hence its association with the terms "broken heart syndrome" and stress cardiomyopathy. Although it is relatively rare, occurring in only 0.02% of the general population and roughly 2% of patients with acute coronary syndrome, neurological or psychiatric disorders are present in over 50% of affected individuals. One of the major hypotheses regarding the pathophysiology of TTS involves a catecholamine surge, from stress directly, or in some cases from psychiatric medication used to relieve distress. Given the association of TTS with acute stress and psychiatric illness, psychiatrists may be involved in the care of patients with TTS either at the initial presentation of the condition or following recovery. The case reports presented in this issue exemplify these 2 scenarios: one case involves the development of TTS during treatment with atomoxetine, and the other case involves treatment of depression in a patient after recovery from TTS, as well as a TTS recurrence during treatment with fluoxetine. PMID:27123804

  16. Family communication in a population at risk for hypertrophic cardiomyopathy.

    PubMed

    Batte, Brittany; Sheldon, Jane P; Arscott, Patricia; Huismann, Darcy J; Salberg, Lisa; Day, Sharlene M; Yashar, Beverly M

    2015-04-01

    Encouraging family communication is an integral component of genetic counseling; therefore, we sought to identify factors impacting communication to family members at risk for Hypertrophic Cardiomyopathy (HCM). Participants (N = 383) completed an online survey assessing: 1) demographics (gender, genetic test results, HCM family history, and disease severity); 2) illness representations; 3) family functioning and cohesiveness; 4) coping styles; 5) comprehension of HCM autosomal dominant inheritance; and 6) communication of HCM risk information to at-risk relatives. Participants were a national sample of individuals with HCM, recruited through the Hypertrophic Cardiomyopathy Association. Data from 183 participants were analyzed using a logistic regression analysis, with family communication as a dichotomous dependent variable. We found that female gender and higher comprehension of autosomal dominant inheritance were significant predictors of participants' communication of HCM risk information to all their siblings and children. Our results suggest that utilizing interventions that promote patient comprehension (e.g., a teaching-focused model of genetic counseling) are important and may positively impact family communication within families with HCM. PMID:25304619

  17. Physiological growth synergizes with pathological genes in experimental cardiomyopathy.

    PubMed

    Syed, Faisal; Odley, Amy; Hahn, Harvey S; Brunskill, Eric W; Lynch, Roy A; Marreez, Yehia; Sanbe, Atsushi; Robbins, Jeffrey; Dorn, Gerald W

    2004-12-10

    Hundreds of signaling molecules have been assigned critical roles in the pathogenesis of myocardial hypertrophy and heart failure based on cardiac phenotypes from alpha-myosin heavy chain-directed overexpression mice. Because permanent ventricular transgene expression in this system begins during a period of rapid physiological neonatal growth, resulting phenotypes are the combined consequences of transgene effects and normal trophic influences. We used temporally-defined forced gene expression to investigate synergy between postnatal physiological cardiac growth and two functionally divergent cardiomyopathic genes. Phenotype development was compared various times after neonatal (age 2 to 3 days) and adult (age 8 weeks) expression. Proapoptotic Nix caused ventricular dilation and severe contractile depression in neonates, but not adults. Myocardial apoptosis was minimal in adults, but was widespread in neonates, until it spontaneously resolved in adulthood. Unlike normal postnatal cardiac growth, concurrent left ventricular pressure overload hypertrophy did not synergize with Nix expression to cause cardiomyopathy or myocardial apoptosis. Prohypertrophic Galphaq likewise caused eccentric hypertrophy, systolic dysfunction, and pathological gene expression in neonates, but not adults. Thus, normal postnatal cardiac growth can be an essential cofactor in development of genetic cardiomyopathies, and may confound the interpretation of conventional alpha-MHC transgenic phenotypes. PMID:15539635

  18. [Microvolt T-wave alternans. Ischemic vs. nonischemic dilated cardiomyopathy].

    PubMed

    Klingenheben, Thomas

    2015-03-01

    The use of implantable cardioverter defibrillators (ICD) for primary preventive therapy of sudden arrhythmogenic death has become a mainstay in selected patients with systolic congestive heart failure, particularly in the setting of ischemic and nonischemic cardiomyopathy (Moss et al., N Engl J Med 346:877–883, 2002; Bardy et al., N Engl J Med 352:225–237, 2005). However, more accurate identification of high-risk patients is desirable in order to avoid unnecessary ICD implants. Since currently available risk stratification methods have limited predictive accuracy, development of new techniques is important in order to noninvasively assess arrhythmogenic risk in patients prone to sudden death.Microvolt level T-wave alternans (mTWA) has recently been proposed to assess abnormalities in ventricular repolarization favoring the occurrence of reentrant arrhythmias (Adam et al., J Electrocardiol 17:209–218, 1984; Pastore et al., Circulation 99:1385–1394, 1999). In 1994, a preliminary clinical study by Rosenbaum et al. convincingly demonstrated that mTWA is closely related to arrhythmia induction in the electrophysiology laboratory as well as to the occurrence of spontaneous ventricular tachyarrhythmias during follow-up (Rosenbaum et al., N Engl J Med 330:235–241,1994). More recently, a number of clinical studies have examined its clinical applicability in ischemic and nonischemic cardiomyopathy. PMID:25693483

  19. Viral myocarditis and dilated cardiomyopathy: mechanisms, manifestations, and management

    PubMed Central

    Kearney, M; Cotton, J; Richardson, P; Shah, A

    2001-01-01

    Viral infection of the heart is relatively common and usually of little consequence. It can, however, lead to substantial cardiac damage and severe acute heart failure. It can also evolve into the progressive syndrome of chronic heart failure. Recent studies have gone some way towards unravelling the complex mechanisms underlying the heart muscle damage that occurs after viral infection. These studies have lent support to both immune and viral mediated (independent of an immune response) cardiac damage. Acute myocarditis can present in various ways, and it may be a cause of sudden death in an otherwise healthy young adult. New treatments for viral heart disease are awaited. In the meanwhile, the haemodynamic support of patients with acute left ventricular failure caused by myocarditis should be aggressive, to allow for the possibility of spontaneous recovery. Contemporary trials of treatment in chronic heart failure secondary to dilated cardiomyopathy support the use of angiotensin converting enzyme inhibitors, β adrenoceptor blockers, and spironolactone in such patients.


Keywords: myocarditis; heart failure; coxsackie B virus; dilated cardiomyopathy PMID:11123385

  20. Arrhythmogenic right ventricular cardiomyopathy: contribution of different electrocardiographic techniques.

    PubMed

    Moreira, Davide; Delgado, Anne; Marmelo, Bruno; Correia, Emanuel; Gama, Pedro; Pipa, João; Nunes, Luís; Santos, Oliveira

    2014-04-01

    Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is a condition in which myocardium is replaced by fibrous or fibrofatty tissue, predominantly in the right ventricle. It is clinically characterized by potentially lethal ventricular arrhythmias, and is a leading cause of sudden cardiac death. Its prevalence is not known exactly but is estimated at approximately 1:5000 in the adult population. Diagnosis can be on the basis of structural and functional alterations of the right ventricle, electrocardiographic abnormalities (including depolarization and repolarization alterations and ventricular arrhythmias) and family history. Diagnostic criteria facilitate the recognition and interpretation of non-specific clinical features of this disease. The authors present a case in which the diagnosis of arrhythmogenic right ventricular cardiomyopathy was prompted by the suspicion of right ventricular disease on transthoracic echocardiography. This was confirmed by detection of epsilon waves on analysis of the ECG, which generally go unnoticed but in this case were the key to the diagnosis. Their presence was also shown by non-conventional ECG techniques such as modified Fontaine ECG. The course of the disease culminated in the occurrence of ventricular tachycardia, which prompted placement of an implantable cardioverter-defibrillator. PMID:24780127

  1. Transient Cardiomyopathy and Quadriplegia Induced by Ephedrine Decongestant

    PubMed Central

    Kurklinsky, Andrew K.; Chirila, Razvan

    2015-01-01

    Ephedrine decongestant products are widely used. Common side effects include palpitations, nervousness, and headache. More severe adverse reactions include cardiomyopathy and vasospasm. We report the case of an otherwise healthy 37-year-old woman who presented with acute-onset quadriplegia and heart failure. She had a normal chest radiograph on admission, but developed marked pulmonary edema and bilateral effusions the next day. Echocardiography revealed a left ventricular ejection fraction of 0.18 and no obvious intrinsic pathologic condition such as foramen narrowing on spinal imaging. Laboratory screening was positive for methamphetamines in the urine, and the patient admitted to having used, over the past several weeks, multiple ephedrine-containing products for allergy-symptom relief. She was ultimately diagnosed with an acute catecholamine-induced cardiomyopathy and spinal artery vasospasm consequential to excessive use of decongestants. Her symptoms resolved completely with supportive care and appropriate heart-failure management. An echocardiogram 2 weeks after admission showed improvement of the left ventricular ejection fraction to 0.33. Ten months after the event, the patient was entirely asymptomatic and showed further improvement of her ejection fraction to 0.45. To our knowledge, ours is the first report of spinal artery vasospasm resulting in quadriplegia in a human being after ephedrine ingestion. PMID:26664316

  2. [Severe pulmonary embolism and acute lower limb ischemia complicating peripartum cardiomyopathy successfully treated by streptokinase].

    PubMed

    Yaméogo, N V; Kaboré, E; Seghda, A; Kagambèga, L J; Kaboré, H P; Millogo, G R C; Kologo, K J; Kambiré, Y; Bama, A; Toguyeni, B J Y; Samadoulougou, A K; Zabsonré, P

    2016-02-01

    Peripartum cardiomyopathy is a cardiac disease at high thromboembolism potential. The authors report a case of peripartum cardiomyopathy admitted for congestive heart failure. Echocardiography found a dilated cardiomyopathy with severely impaired left ventricular systolic function and biventricular thrombi. During hospitalization his condition was complicated by severe bilateral pulmonary embolism and left lower limb arterial acute thrombosis. The treatment consisted of thrombolysis with streptokinase associated with dobutamine (in addition to the conventional treatment of heart failure and bromocriptine). The outcome was favorable, marked by pulmonary and lower limb arterial unblocking. PMID:25623958

  3. Takotsubo Cardiomyopathy in an Adult Woman With Repaired Tetralogy of Fallot.

    PubMed

    Nguyen, Lan T; Schelbert, Erik B; Cook, Stephen C

    2016-05-01

    Takotsubo cardiomyopathy is a reversible form of cardiomyopathy rarely reported in the adult congenital patient. We describe a case of a 49-year-old woman with repaired tetralogy of Fallot who presented with acute dyspnea. A 12-lead electrocardiogram revealed diffuse anterolateral T-wave inversion suggestive of myocardial ischemia. Cardiac catheterization was performed, demonstrating angiographically normal coronary arteries. A cardiovascular magnetic resonance examination showed apical akinesis with associated myocardial edema, but no myocardial damage on late gadolinium enhancement imaging, which is a characteristic of Takotsubo cardiomyopathy. The patient was treated medically. A follow-up echocardiogram demonstrated normalization of left ventricular systolic function and apical wall motion abnormalities. PMID:26701619

  4. Abnormalities of the Mitral Apparatus in Hypertrophic Cardiomyopathy: Echocardiographic, Pathophysiologic, and Surgical Insights.

    PubMed

    Silbiger, Jeffrey J

    2016-07-01

    Hypertrophic cardiomyopathy is a genetic disorder characterized by increased cardiac muscle mass. This disorder has broad phenotypic expression, including, among others, asymmetric septal hypertrophy, midcavity hypertrophy, and apical hypertrophy. In recent years, it has been recognized that hypertrophic cardiomyopathy is not characterized solely by ventricular hypertrophy but that a number of abnormalities of the mitral apparatus (papillary muscles, leaflets, chords, and annulus) may also occur. These figure prominently in the echocardiographic evaluation and surgical planning of patients with hypertrophic cardiomyopathy and serve as the focus of this review. PMID:27146120

  5. Approaches to prevention and early detection of cardiomyopathies: Memorandum from a WHO Meeting*

    PubMed Central

    1986-01-01

    A meeting on cardiomyopathies was held in Geneva on 25-27 March 1985 to review the state of understanding concerning these diseases and to update the information and recommendations contained in the published report of the WHO Expert Committee on Cardiomyopathies which had met in 1983. Particular emphasis was given to discussing new scientific knowledge, priorities for etiological research, proposals for cooperation between research centres in developed and developing countries, early detection of cardiomyopathies, and possible population studies related to the disease. PMID:3533298

  6. Why Is Spiritual Care Infrequent at the End of Life? Spiritual Care Perceptions Among Patients, Nurses, and Physicians and the Role of Training

    PubMed Central

    Balboni, Michael J.; Sullivan, Adam; Amobi, Adaugo; Phelps, Andrea C.; Gorman, Daniel P.; Zollfrank, Angelika; Peteet, John R.; Prigerson, Holly G.; VanderWeele, Tyler J.; Balboni, Tracy A.

    2013-01-01

    Purpose To determine factors contributing to the infrequent provision of spiritual care (SC) by nurses and physicians caring for patients at the end of life (EOL). Patients and Methods This is a survey-based, multisite study conducted from March 2006 through January 2009. All eligible patients with advanced cancer receiving palliative radiation therapy and oncology physician and nurses at four Boston academic centers were approached for study participation; 75 patients (response rate = 73%) and 339 nurses and physicians (response rate = 63%) participated. The survey assessed practical and operational dimensions of SC, including eight SC examples. Outcomes assessed five factors hypothesized to contribute to SC infrequency. Results Most patients with advanced cancer had never received any form of spiritual care from their oncology nurses or physicians (87% and 94%, respectively; P for difference = .043). Majorities of patients indicated that SC is an important component of cancer care from nurses and physicians (86% and 87%, respectively; P = .1). Most nurses and physicians thought that SC should at least occasionally be provided (87% and 80%, respectively; P = .16). Majorities of patients, nurses, and physicians endorsed the appropriateness of eight examples of SC (averages, 78%, 93%, and 87%, respectively; P = .01). In adjusted analyses, the strongest predictor of SC provision by nurses and physicians was reception of SC training (odds ratio [OR] = 11.20, 95% CI, 1.24 to 101; and OR = 7.22, 95% CI, 1.91 to 27.30, respectively). Most nurses and physicians had not received SC training (88% and 86%, respectively; P = .83). Conclusion Patients, nurses, and physicians view SC as an important, appropriate, and beneficial component of EOL care. SC infrequency may be primarily due to lack of training, suggesting that SC training is critical to meeting national EOL care guidelines. PMID:23248245

  7. What matters to infrequent customers: a pragmatic approach to understanding perceived value and intention to revisit trendy coffee café.

    PubMed

    Ting, Hiram; Thurasamy, Ramayah

    2016-01-01

    Notwithstanding the rise of trendy coffee café, little is done to investigate revisit intention towards the café in the context of developing markets. In particular, there is a lack of study which provides theoretical and practical explanation to the perceptions and behaviours of infrequent customers. Hence, the study aims to look into the subject matter by using the theory of reasoned action and social exchange theory as the underpinning basis. The framework proposed by Pine and Gilmore (Strat Leadersh 28:18-23, 2000), which asserts the importance of product quality, service quality and experience quality in a progressive manner, is used to decompose perceived value in the model so as to determine their effects on intention to revisit the café. Given the importance to gain practical insights into revisit intention of infrequent customers, pragmatism stance is assumed. Explanatory sequential mixed-method design is thus adopted whereby qualitative approach is used to confirm and complement quantitative findings. Self-administered questionnaire-based survey is first administered before personal interview is carried out at various cafés. Partial least squares structural equation modelling and content analysis are appropriated successively. In the quantitative findings, although product quality, service quality and experience quality are found to have positive effect on perceived value and revisit intention towards trendy coffee café, experience quality is found to have the greater effect than the others among the infrequent customers. The qualitative findings not only confirm their importance, but most importantly explain the favourable impressions they have at trendy coffee café based on their last in-store experience. While product and service quality might not necessary stimulate them to revisit trendy coffee café, experience quality driven by purposes of visit would likely affect their intention to revisit. As retaining customers is of utmost importance to

  8. Cardiomyopathy Induced by Pulmonary Sequestration in a 50-Year-Old Man

    PubMed Central

    Chatelain, Shaun; Comp, Robert A.; Grace, R. Randal

    2015-01-01

    A 50-year-old black man presented at the emergency department with midsternal, nonradiating chest pressure and chronic dyspnea on exertion. Four years before the current admission, he had been diagnosed with nonischemic cardiomyopathy at another facility. After our complete evaluation, we suspected that his symptoms arose from left-to-left shunting in association with pulmonary sequestration, a congenital malformation. Our preliminary diagnosis of secondary dilated cardiomyopathy was confirmed by normalization of the patient's ventricular size and function after lobectomy. To our knowledge, this patient is the oldest on record to present with cardiomyopathy consequent to pulmonary sequestration. His case is highly unusual because of his age and the rapid resolution of his symptoms after lobectomy. We believe that pulmonary sequestration should be included in the differential diagnosis of dilated cardiomyopathy. PMID:25873803

  9. Cardiogenic shock from atypical Takotsubo cardiomyopathy attributed to acute disseminated encephalomyelitis lesion involving the medulla.

    PubMed

    Venkatraman, A; Bajaj, N S; Khawaja, A; Meador, W

    2016-04-01

    We present here a case of atypical Takotsubo cardiomyopathy arising as a result of a lesion in the medulla oblongata. The patient was diagnosed with acute disseminated encephalomyelitis, and had improvement with intravenous steroids. PMID:26868678

  10. Particulate matter inhalation exacerbates cardiopulmonary injury in a rat model of isoproterenol-induced cardiomyopathy

    EPA Science Inventory

    Ambient particulate matter (PM) exposure is linked to cardiovascular events and death, especially among individuals with heart disease. A model of toxic cardiomyopathy was developed in Spontaneously Hypertensive Heart Failure (SHHF) rats to explore potential mechanisms. Rats were...

  11. Taurine for the Treatment of Canine Dilated Cardiomyopathy: A Veterinarian's Personal Experience.

    PubMed

    Vail, Jane

    2006-01-01

    In dogs, dilated cardiomyopathy is a common cardiac disease that is associated with treatment failure, a progressively compromised quality of life, and eventual death from heart failure. Cardiomyopathy in companion animals is treated with a variety of drugs manufactured for the management of cardiac dyfunction in humans, but often those agents do not produce a significantly beneficial response in veterinary patients. In this article, Lara Ivan, DVM, presents her personal experience with the use of a compounded form of the amino acid taurine in the treatment of her Doberman pinscher, whose dilated cardiomyopathy was characteristically sudden in onset. Robert Borger, RPh, a specialist in veterinary compounding, comments on the preparation of taurine for use in dogs with dilated cardiomyopathy. PMID:23974413

  12. [Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies].

    PubMed

    Yue, Zhao; Hong, Zhang; Xueshan, Xia

    2015-07-01

    Inherited cardiomyopathy is the most common hereditary cardiac disease. It also causes a significant proportion of sudden cardiac deaths in young adults and athletes. So far, approximately one hundred genes have been reported to be involved in cardiomyopathies through different mechanisms. Therefore, the identification of the genetic basis and disease mechanisms of cardiomyopathies are important for establishing a clinical diagnosis and genetic testing. Next-generation semiconductor sequencing (NGSS) technology platform is a high-throughput sequencer capable of analyzing clinically derived genomes with high productivity, sensitivity and specificity. It was launched in 2010 by Life Technologies of USA, and it is based on a high density semiconductor chip, which was covered with tens of thousands of wells. NGSS has been successfully used in candidate gene mutation screening to identify hereditary disease. In this review, we summarize these genetic variations, challenge and application of NGSS in inherited cardiomyopathy, and its value in disease diagnosis, prevention and treatment. PMID:26351163

  13. Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

    PubMed

    San Román, I; Navarro, M; Martínez, F; Albert, L; Polo, L; Guardiola, J; García-Molina, E; Muñoz-Esparza, C; López-Ayala, J M; Sabater-Molina, M; Gimeno, J R

    2016-08-01

    Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non-dilated ventricles. Carriers had significant QTc prolongation. The proband presented with resuscitated cardiac arrest. There were two transplants. Pathological study of explanted heart showed fibrofatty replacement and scarring consistent with arrhythmogenic cardiomyopathy and prominent left ventricular trabeculations. Myopathic involvement was evident in all males. Females had no significant neuromuscular disease. Mutations in FHL1 cause unclassifiable cardiomyopathy with coexisting EDMD. Prognosis is poor and systolic impairment and arrhythmias are frequent. Thrombopenia and raised creatine phosphokinase should raise suspicion of an FHL-1 disorder in X-linked cardiomyopathy. PMID:26857240

  14. Isolated right ventricular cardiomyopathy with autoimmune hypothyroidism: a rare association in an adolescent.

    PubMed

    Yelve, Kavita; Panandikar, Gajanan Ashok; Pazare, Amar; Bajpai, Smrati

    2015-01-01

    A 13-year-old girl presented with progressive dyspnoea and palpitation, diagnosed on echocardiography as primary right ventricular cardiomyopathy with atrial fibrillation. Her thyroid profile was positive for antithyroid microsomal antibody, and antithyroid peroxidase antibodies were suggestive of autoimmune hypothyroidism. She was managed with furosemide, digoxin, acenocoumarol and thyroxine following which she showed significant improvement. This is a rare case of isolated right ventricular cardiomyopathy and its association with autoimmune hypothyroidism presenting at the age of 13. PMID:25795745

  15. Focal takotsubo cardiomyopathy with high-dose interleukin-2 therapy for malignant melanoma.

    PubMed

    Damodaran, Senthil; Mrozek, Ewa; Liebner, David; Kendra, Kari

    2014-12-01

    High-dose interleukin-2 (IL-2) is an available treatment option for patients with metastatic melanoma or renal cell carcinoma, and is associated with sustained complete and partial responses in a subset of patients. IL-2, however, is not devoid of toxicities, most of which involve the cardiovascular system and manifest as hypotension, arrhythmias, and cardiomyopathy. This report describes an unusual presentation of takotsubo cardiomyopathy in a postmenopausal woman receiving high-dose IL-2 for metastatic melanoma. PMID:25505207

  16. Surgical Treatment of a 4-Year-Old Child with Hypertrophic Obstructive Cardiomyopathy: Case Report.

    PubMed

    Chen, Jin; Wu, Qingyu; Xu, Zhonghua; Kong, Xiangchen

    2016-01-01

    The incidence of pediatric hypertrophic obstructive cardiomyopathy is low. The lesions usually involve the left ventricle or ventricular septum, leading to either left or right ventricular outflow tract stenosis. However, combined left and right ventricular outflow tract stenosis is rare, and the surgical treatment is limited, especially in children. Surgery to release the obstruction was performed successfully in a 4-year-old child with right and left ventricular outflow tract obstruction together with a hypertrophic cardiomyopathy. The result was excellent. PMID:26913685

  17. Application and Progress of Combined Mesenchymal Stem Cell Transplantation in the Treatment of Ischemic Cardiomyopathy

    PubMed Central

    Hua, Ping; Liu, Jian-Yang; Tao, Jun; Yang, Song-Ran

    2015-01-01

    Treatment of ischemic cardiomyopathy caused by myocardial infarction (MI) using mesenchymal stem cell (MSC) transplantation is a widely researched field, with promising clinical application. However, the low survival rate of transplanted cells has a severe impact on treatment outcome. Currently, research is focused on investigating the strategy of combining genetic engineering, tissue engineering materials, and drug/hypoxia preconditioning to improve ischemic cardiomyopathy treatment outcome using MSC transplantation treatment (MSCTT). This review discusses the application and progress of these techniques. PMID:26295041

  18. Anaesthesia Application for Cardiac Denervation in a Patient with Long QT Syndrome and Cardiomyopathy

    PubMed Central

    Karadeniz, Ümit; Demir, Aslı; Koçulu, Rabia

    2016-01-01

    Long QT syndrome is a congenital disorder that is characterized by a prolongation of the QT interval on electrocardiograms and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest or sudden death. Cardiomyopathy and pulmonary hypertension diseases have additional risks in anaesthesia management. In this study, we emphasize on one lung ventilation, pacemaker-implantable cardioverter–defibrillator and the anaesthesia management process in a patient with long QT syndrome, cardiomyopathy and pulmonary hypertension who underwent thoracic sympathectomy. PMID:27366557

  19. Ten-Year Incidence of Chagas Cardiomyopathy Among Asymptomatic Trypanosoma cruzi–Seropositive Former Blood Donors

    PubMed Central

    Sabino, Ester C.; Ribeiro, Antonio L.; Salemi, Vera M.C.; Di Lorenzo Oliveira, Claudio; Antunes, Andre P.; Menezes, Marcia M.; Ianni, Barbara M.; Nastari, Luciano; Fernandes, Fabio; Patavino, Giuseppina M.; Sachdev, Vandana; Capuani, Ligia; de Almeida-Neto, Cesar; Carrick, Danielle M.; Wright, David; Kavounis, Katherine; Goncalez, Thelma T.; Carneiro-Proietti, Anna Barbara; Custer, Brian; Busch, Michael P.; Murphy, Edward L.

    2013-01-01

    Background Very few studies have measured disease penetrance and prognostic factors of Chagas cardiomyopathy among asymptomatic Trypanosoma cruzi–infected persons. Methods and Results We performed a retrospective cohort study among initially healthy blood donors with an index T cruzi–seropositive donation and age-, sex-, and period-matched seronegatives in 1996 to 2002 in the Brazilian cities of São Paulo and Montes Claros. In 2008 to 2010, all subjects underwent medical history, physical examination, ECGs, and echocardiograms. ECG and echocardiogram results were classified by blinded core laboratories, and records with abnormal results were reviewed by a blinded panel of 3 cardiologists who adjudicated the outcome of Chagas cardiomyopathy. Associations with Chagas cardiomyopathy were tested with multivariate logistic regression. Mean follow-up time between index donation and outcome assessment was 10.5 years for the seropositives and 11.1 years for the seronegatives. Among 499 T cruzi seropositives, 120 (24%) had definite Chagas cardiomyopathy, and among 488 T cruzi seronegatives, 24 (5%) had cardiomyopathy, for an incidence difference of 1.85 per 100 person-years attributable to T cruzi infection. Of the 120 seropositives classified as having Chagas cardiomyopathy, only 31 (26%) presented with ejection fraction <50%, and only 11 (9%) were classified as New York Heart Association class II or higher. Chagas cardiomyopathy was associated (P<0.01) with male sex, a history of abnormal ECG, and the presence of an S3 heart sound. Conclusions There is a substantial annual incidence of Chagas cardiomyopathy among initially asymptomatic T cruzi–seropositive blood donors, although disease was mild at diagnosis. PMID:23393012

  20. The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature

    PubMed Central

    Bennett, Courtney E.; Freudenberger, Ronald

    2016-01-01

    Isolated left ventricular noncompaction (LVNC) is a genetic cardiomyopathy characterized by prominent ventricular trabeculations and deep intertrabecular recesses, or sinusoids, in communication with the left ventricular cavity. The low prevalence of patients with this cardiomyopathy presents a unique challenge for large, prospective trials to assess its pathogenesis, management, and outcomes. In this paper we review the embryology and genetics of LVNC, the diagnostic approach, and propose a management approach based on the current literature available. PMID:26881173

  1. [Migration flow and imported diseases: chronic chagasic cardiomyopathy].

    PubMed

    Guerri-Guttenberg, Roberto A; Di Girolamo, Chiara; Ciannameo, Anna; Milei, José

    2009-04-01

    Chagas disease, caused by the parasite Trypanosoma cruzi, is transmitted by triatomine bugs in endemic regions of the American continent and less frequently by blood transfusion and congenital transmission. Immigration rates explain why the disease can be found worldwide. Non-endemic countries that receive a significant amount of Latin American immigrants should be familiarized with the disease to allow prevention, diagnosis and early treatment. In Italy, where no serologic screening is routinely performed to detect Trypanosoma cruzi in blood donations, a special consideration must be held. Accordingly, attention to congenital transmissions of the disease should be drawn considering the lack of newborn screening. Though commonly unrecognized, chronic chagasic cardiomyopathy is the most common type of chronic myocarditis in the world. PMID:19475878

  2. Peripartum cardiomyopathy: a case of patient with triplet pregnancy.

    PubMed

    Kotlica, B Kastratović; Cetković, A; Plesinac, S; Macut, D; Asanin, M

    2016-01-01

    Peripartum cardiomyopathy (PPCM) is a rare but potentially devastating complication of pregnancy associated with heart failure due to left ventricular systolic dysfunction occurring within the last month of pregnancy and five month postpartum with no obvious other cause of heart failure and no pre-existing heart disease. In the present case report the authors present a woman who developed PPCM on the day after she delivered by cesarean section in 35th weeks of gestation of triplet pregnancy conceived after ovarian stimulation and insemination. A treatment with diuretics, ACE inhibitors, antiarrhythmics, low weight heparin, antibiotics and bromocriptine was applied and resulted in complete recovery. In conclusion, timely detection and initiation of treatment are important factors for complete recovery of patients with PPCM. PMID:27132428

  3. Peripartum Cardiomyopathy in Intensive Care Unit: An Update

    PubMed Central

    Dinic, Vesna; Markovic, Danica; Savic, Nenad; Kutlesic, Marija; Jankovic, Radmilo J.

    2015-01-01

    Peripartum cardiomyopathy (PPCM) is a systolic heart failure that occurs during the last month of pregnancy or within 5 months after delivery. It is an uncommon disease of unknown etiopathogenesis and has a very high rate of maternal mortality. Because of similarity between symptoms of PPCM and physiological discomforts during pregnancy, the early diagnosis of PPCM presents a major challenge. Since hemodynamic changes during PPCM can vitally jeopardize the mother and the fetus, patients with severe forms of PPCM require a multidisciplinary approach in intensive care units. This review summarizes the current state of knowledge about the diagnosis, monitoring, and the treatment of PPCM. Having reviewed the recent researches, it gives insight into the new treatment strategies of this rare disease. PMID:26636086

  4. Hypothyroid heart: myxoedema as a cause of reversible dilated cardiomyopathy.

    PubMed

    Madan, Nidhi; Tiwari, Nidhish; Stampfer, Morris; Schubart, Ulrich

    2015-01-01

    Hypothyroidism may cause several cardiac manifestations including conduction abnormalities, pericardial effusion, decreased myocardial contractility and accelerated coronary atherosclerosis. Although cardiac output is reduced in hypothyroidism, frank heart failure (HF) is relatively rare because of the low peripheral oxygen demand. Several mechanisms have been postulated in hypothyroid-induced HF, including genomic as well as non-genomic actions of thyroid hormone. Dilated cardiomyopathy (DCM) of other aetiologies is usually progressive, and is associated with significant morbidity and mortality. We report a case of DCM associated with severe hypothyroidism with marked improvement on restoration of euthyroid state. Our case is unique in that the patient had no known risk factors for cardiac disease and experienced marked improvement despite being on minimal doses of HF medications, illustrating the relationship between hypothyroidism and development of left ventricular dysfunction, and its reversible nature with restoration of euthyroid status. PMID:26468223

  5. Clinical management of dilated cardiomyopathy: current knowledge and future perspectives.

    PubMed

    Merlo, Marco; Cannatá, Antonio; Vitagliano, Alice; Zambon, Elena; Lardieri, Gerardina; Sinagra, Gianfranco

    2016-01-01

    Dilated cardiomyopathy (DCM) is a primary heart muscle disease characterized by a progressive dilation and dysfunction of either the left or both ventricles. The management of DCM is currently challenging for clinicians. The persistent lack of knowledge about the etiology and pathophysiology of this disease continues to determine important fields of uncertainty in managing this condition. Molecular cardiology and genetics currently represent the most crucial horizon of increasing knowledge. Understanding the mechanisms underlying the disease allows clinicians to treat this disease more effectively and to further improve outcomes of DCM patients through advancements in etiologic characterization, prognostic stratification and individualized therapy. Left ventricular reverse remodeling predicts a lower rate of major cardiac adverse events independently from other factors. Optimized medical treatment and device implantation are pivotal in inducing left ventricular reverse remodeling. Newly identified targets, such as angiotensin-neprilysin inhibition, phosphodiesterase inhibition and calcium sensitizing are important in improving prognosis in patients affected by DCM. PMID:26606394

  6. Selective Serotonin–norepinephrine Reuptake Inhibitors-induced Takotsubo Cardiomyopathy

    PubMed Central

    Vasudev, Rahul; Rampal, Upamanyu; Patel, Hiten; Patel, Kunal; Bikkina, Mahesh; Shamoon, Fayez

    2016-01-01

    Context: Takotsubo translates to “octopus pot” in Japanese. Takotsubo cardiomyopathy (TTC) is characterized by a transient regional systolic dysfunction of the left ventricle. Catecholamine excess is the one most studied and favored theories explaining the pathophysiology of TTC. Case Report: We present the case of a 52-year-old Hispanic female admitted for venlafaxine-induced TTC with a review literature on all the cases of Serotonin–norepinephrine reuptake inhibitors (SNRI)-associated TTC published so far. Conclusion: SNRI inhibit the reuptake of catecholamines into the presynaptic neuron, resulting in a net gain in the concentration of epinephrine and serotonin in the neuronal synapses and causing iatrogenic catecholamine excess, ultimately leading to TTC. PMID:27583240

  7. Hepatorenal Syndrome with Cirrhotic Cardiomyopathy: Case Report and Literature Review

    PubMed Central

    Mocarzel, Luis; Lanzieri, Pedro; Nascimento, Juliana; Peixoto, Clara; Ribeiro, Mário; Mesquita, Evandro

    2015-01-01

    The hepatorenal syndrome (HRS) is defined as a potentially reversible kidney failure in patients with cirrhosis and ascites. An association of HRS and cirrhotic cardiomyopathy has been reported recently, but there are no result studies about the use of positive inotropes as part of the acute phase treatment. We report the case of a patient diagnosed with HRS, with high levels of NT pro-BNP, but with normal ejection fraction of the left ventricle, which showed abnormalities in systolic function through speckle tracking in echocardiography, reversible after the infusion of dobutamine. The patient showed clinical and laboratory improvement of his renal function after the infusion of dobutamine. Clinical studies are needed on HRS therapeutic approach taking into account the myocardial dysfunction as a major contributing factor to renal dysfunction. PMID:25874140

  8. Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

    PubMed Central

    Kapplinger, Jamie D.; Landstrom, Andrew P.; Bos, J. Martijn; Salisbury, Benjamin A.; Callis, Thomas E.; Ackerman, Michael J.

    2014-01-01

    Despite the significant progress that has been made in identifying disease-associated mutations, the utility of the Hypertrophic Cardiomyopathy (HCM) genetic test is limited by a lack of understanding of the background genetic variation inherent to these sarcomeric genes in seemingly healthy subjects. This study represents the first comprehensive analysis of genetic variation in 427 ostensibly healthy individuals for the HCM genetic test using the “Gold Standard” Sanger sequencing method validating the background rate identified in the publically available exomes. While mutations are clearly over-represented in disease, a background rate as high as ~5% among healthy individuals prevents diagnostic certainty. To this end, we have identified a number of estimated predictive value-based associations including gene-specific, topology, and conservation methods generating an algorithm aiding in the probabilistic interpretation of an HCM genetic test. PMID:24510615

  9. Sarcolemmal phospholipid N-methylation in genetically determined hamster cardiomyopathy

    SciTech Connect

    Okumura, K.; Panagia, V.; Jasmin, G.; Dhalla, N.S.

    1987-02-27

    The heart sarcolemmal phosphatidylethanolamine N-methylation in UM-X7.1 strain of cardiomyopathic hamsters was examined by using 0.055, 10 and 150 microM S-adenosyl-L-(methyl-/sup 3/H) methionine as methyl donor for sites I, II and III, respectively. In comparison with control values, methylation activities at site I was increased in 40, 120 and 250 days old cardiomyopathic hamsters. On the other hand, methylation activities at sites II and III in 120 and 250 days old cardiomyopathic animals were depressed without any change in the 40 days old group. The alterations in N-methylation activities were associated with kinetic changes in apparent Vmax values without any changes in the apparent Km. These results indicate a defect in the phospholipid N-methylation process in heart sarcolemma during the development of genetically determined cardiomyopathy.

  10. Late systolic click in non-obstructive cardiomyopathy

    PubMed Central

    Mercer, Edward N.; Frye, Robert L.; Giuliani, Emilio R.

    1970-01-01

    Two patients with seriously impaired left ventricular function, abnormal left ventricular conduction on the electrocardiogram, mitral regurgitation, and a very late systolic click are reported. Idiopathic non-obstructive cardiomyopathy seemed to be the cause of the left ventricular dysfunction in both cases. The mitral valve was anatomically normal at the time of operation in one patient, except for dilatation of the annulus, and the mitral regurgitation appeared to be secondary to left ventricular failure. The very late timing of the mitral systolic clicks in these two patients may be related to a large left ventricular end-diastolic volume and impaired left ventricular function, or to an abnormal sequence of excitation of the left ventricle. The timing of the late systolic click in these patients is in contrast to that in patients with mid systolic clicks, hearts of normal size, and little cardiac disability. Images PMID:5470052

  11. [Hypothyroid cardiomyopathy--an underdiagnosed cause of heart failure].

    PubMed

    Gundersen, T; Paulsen, A Q; Gallefoss, F; Aslaksen, B B

    1990-06-10

    20 patients with hypothyroid cardiomyopathy were evaluated by M-mode echocardiography. The mean interventricular septum (IVSd) thickness was 1.94 cm before treatment and was reduced to 1.21 cm after 4-6 months of thyroxin therapy. The mean left ventricular posterior wall (LVPWd) thickness was 1.14 cm before and 1.05 cm after treatment. The IVS/LVPW ratio decreased from 1.7 to 1.15 within 4-6 months. Pericardial effusion was demonstrated in 15 of the patients, but disappeared during thyroxin therapy. The study confirms the importance of examining for hypothyreoidism in the case of patients with symptoms of heart failure of unknown cause, and of patients with echocardiographic evidence of asymmetric septal hypertrophy (ASH) and idiopathic hypertrophic subaortic stenosis (IHSS). PMID:2141958

  12. Clinical utility of natriuretic peptides and troponins in hypertrophic cardiomyopathy.

    PubMed

    Kehl, Devin W; Buttan, Anshu; Siegel, Robert J; Rader, Florian

    2016-09-01

    The diagnosis of hypertrophic cardiomyopathy (HCM) is based on clinical, echocardiographic and in some cases genetic findings. However, prognostication remains limited except in the subset of patients with high-risk indicators for sudden cardiac death. Additional methods are needed for risk stratification and to guide clinical management in HCM. We reviewed the available data regarding natriuretic peptides and troponins in HCM. Plasma levels of natriuretic peptides, and to a lesser extent serum levels of troponins, correlate with established disease markers, including left ventricular thickness, symptom status, and left ventricular hemodynamics by Doppler measurements. As a reflection of left ventricular filling pressure, natriuretic peptides may provide an objective measure of the efficacy of a specific therapy. Both natriuretic peptides and troponins predict clinical risk in HCM independently of established risk factors, and their prognostic power is additive. Routine measurement of biomarker levels therefore may be useful in the clinical evaluation and management of patients with HCM. PMID:27236124

  13. Lethal Cardiomyopathy in Mice Lacking Transferrin Receptor in the Heart.

    PubMed

    Xu, Wenjing; Barrientos, Tomasa; Mao, Lan; Rockman, Howard A; Sauve, Anthony A; Andrews, Nancy C

    2015-10-20

    Both iron overload and iron deficiency have been associated with cardiomyopathy and heart failure, but cardiac iron utilization is incompletely understood. We hypothesized that the transferrin receptor (Tfr1) might play a role in cardiac iron uptake and used gene targeting to examine the role of Tfr1 in vivo. Surprisingly, we found that decreased iron, due to inactivation of Tfr1, was associated with severe cardiac consequences. Mice lacking Tfr1 in the heart died in the second week of life and had cardiomegaly, poor cardiac function, failure of mitochondrial respiration, and ineffective mitophagy. The phenotype could only be rescued by aggressive iron therapy, but it was ameliorated by administration of nicotinamide riboside, an NAD precursor. Our findings underscore the importance of both Tfr1 and iron in the heart, and may inform therapy for patients with heart failure. PMID:26456827

  14. Evidence for a possible calcium flux dependent cardiomyopathy in hyperthyroidism

    SciTech Connect

    Barat, J.L.; Wicker, P.; Manley, W.; Brendel, A.J.; Lefort, G.; San Galli, F.; Commenges-Ducos, M.; Latapie, J.L.; Riviere, J.; Ducassou, D.

    1985-05-01

    This study was designed to test the hypothesis that the impaired functional cardiac reserve to exercise in hyperthyroidism is related to alterations in the regulation of calcium transport. In 2l hyperthyroid patients, the left ventricular ejection fraction (LVEF) was measured using equilibrium gated radionuclide angiocardiography at rest and during supine dynamic exercise. After a recovery period, the patients performed a second exercise study after random administration of Verapamil, a calcium entry blocker (11 pts), or propanolol, a beta adrenergic antagonist (10 pts) for comparison. The results showed i) normal resting LVEF with no significant change during exercise before any medication, ii) resting LVEF significantly decreased after Propanolol, and no significantly changed after Verapamil, iii) during exercise, significant increase of LVEF after Verapamil, and no significant change after Propanolol. These results are consistent with previous studies showing that abnormal change in LVEF during exercise in hyperthyroidism seems independent of beta adrenergic activation, and suggest a reversible functional cardiomyopathy dependent of calcium transporting systems.

  15. Tumor necrosis factor alpha polymorphism in heart failure/cardiomyopathy.

    PubMed

    Vadlamani, Lou; Iyengar, Srinivas

    2004-01-01

    Tumor necrosis factor a (TNF-alpha) is a proinflammatory cytokine that is produced by activated macrophages. It has been shown to stimulate the release of endothelial cytokines and NO, increase vascular permeability, decrease contractility, and induce a prothrombotic state. The most studied TNF-a gene mutation in heart disease is a gamma to alpha substitution, which occurs when 308 nucleotides move upstream from the transcription initiation site in the TNF promoter and has been associated with elevated levels of TNF-alpha. The TNF1 allele (wild type) contains gamma at this site, while the TNF2 allele has an alpha substitution at the site. The TNF2 allele is a more powerful transcriptional activator, therefore leading to higher TNF-alpha levels. Most of the studies to date have failed to conclusively show any link between the polymorphism and heart disease, both coronary artery disease and cardiomyopathy/heart failure. PMID:15591843

  16. Arrhythmogenic Cardiomyopathy - New Insights into Disease Mechanisms and Drug Discovery

    PubMed Central

    Asimaki, Angeliki; Kléber, André G.; MacRae, Calum A.; Saffitz, Jeffrey E.

    2014-01-01

    Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disorder characterized by the early appearance of ventricular arrhythmias often out of proportion to the degree of ventricular remodeling and dysfunction. ACM typically presents in adolescence or early adulthood. It accounts for 10% of sudden cardiac deaths in individuals under the age of 18 years. Although there has been significant progress in recognizing the genetic determinants of ACM, how specific gene mutations cause the disease remains poorly understood. Here, we review insights gained from studying the human disease as well as in vivo and in vitro experimental models. These observations have advanced our understanding of the molecular mechanisms underlying the pathogenesis of ACM and may lead to development of new mechanism-based therapies. PMID:25506190

  17. Recent advances in diagnosis and management of hypertrophic cardiomyopathy

    PubMed Central

    Siswanto, B B; Aryani, R

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is characterised by a thickened but non-dilated left ventricle in the absence of another cardiac or systemic condition capable of producing the magnitude of hypertrophy evident. It is the most common familial genetic disease of the heart (1/500 to 1/1000), as well as the most common cause of sudden cardiac death in young people and athletes. Survival rates of patients with HCM have improved from the 1960s onwards. Natural history in patients with HCM might vary from developing severe heart failure or atrial fibrillation, some die suddenly, often at a young age and in the absence of previous symptoms. Because of its heterogeneous clinical course and expression, HCM frequently presents uncertainty and represents a management dilemma to cardiovascular specialists and other practitioners.

  18. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive.

    PubMed

    Pinto, Raimundo José Almeida de Oliveira; Santos, Adaílton Araújo dos; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis. PMID:26312722

  19. Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy.

    PubMed

    Louzao-Martinez, Laura; Vink, Aryan; Harakalova, Magdalena; Asselbergs, Folkert W; Verhaar, Marianne C; Cheng, Caroline

    2016-10-01

    Dilated cardiomyopathy (DCM) is a relatively common heart muscle disease characterized by the dilation and thinning of the left ventricle accompanied with left ventricular systolic dysfunction. Myocardial fibrosis is a major feature in DCM and therefore it is inevitable that corresponding extracellular matrix (ECM) changes are involved in DCM onset and progression. Increasing our understanding of how ECM adaptations are involved in DCM could be important for the development of future interventions. This review article discusses the molecular adaptations in ECM composition and structure that have been reported in both animal and human studies of DCM. Furthermore, we provide a transcriptome-based catalogue of ECM genes that are associated with DCM, generated by using NCBI Gene Expression Omnibus database sets for DCM. Based on this in silico analysis, many novel ECM components involved in DCM are identified and discussed in this review. With the information gathered, we propose putative pathways of ECM adaptations in onset and progression of DCM. PMID:27391006

  20. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive*

    PubMed Central

    Pinto, Raimundo José Almeida de Oliveira; dos Santos, Adaílton Araújo; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis. PMID:26312722

  1. Sustained left ventricular diastolic dysfunction after exercise in patients with dilated cardiomyopathy

    PubMed Central

    Morikawa, M; Sato, H; Sato, H; Koretsune, Y; Ohnishi, Y; Kurotobi, T; Kuzuya, T; Hori, M

    1998-01-01

    Objective—To investigate the recovery process of exercise induced diastolic dysfunction in heart failure, using Doppler echocardiographic techniques.
Design and patients—Transmitral flow velocity profiles and standard non-invasive haemodynamic indices were obtained serially over seven days after symptom limited bicycle exercise tests in 18 patients with dilated cardiomyopathy and eight normal subjects. In three patients with cardiomyopathy we also measured the pulmonary capillary wedge pressure for 24 hours after exercise.
Results—The intensity of exercise, as assessed by respiratory gas analysis, was lower in patients with dilated cardiomyopathy than in normal subjects. Despite the higher exercise level, all haemodynamic variables returned to baseline within one hour after exercise in normal subjects. In contrast, patients with dilated cardiomyopathy showed a sustained decrease in the peak early diastolic filling velocity and a sustained increase in the deceleration time of early filling for 24 hours or more after exercise. Because other haemodynamic variables recovered within one hour after exercise even in patients with dilated cardiomyopathy, the postexercise changes in ventricular filling were not explained by changes in loading conditions.
Conclusions—Exercise induced diastolic left ventricular dysfunction of the failing heart persists for 24 hours or more after exercise. The efficacy of exercise training on a daily basis in dilated cardiomyopathy requires further evaluation.

 Keywords: exercise;  chronic heart failure;  mitral flow velocity;  diastolic stunning PMID:9875086

  2. The Emerging Role of Cardiovascular Magnetic Resonance Imaging in the Evaluation of Metabolic Cardiomyopathies.

    PubMed

    Mavrogeni, S; Markousis-Mavrogenis, G; Markussis, V; Kolovou, G

    2015-08-01

    The aim of this review is to discuss the role of Cardiovascular Magnetic Resonance (CMR) in the diagnosis, risk stratification, and follow-up of metabolic cardiomyopathies. The classification of myocardial diseases, proposed by WHO/ISFC task force, distinguished specific cardiomyopathies, caused by metabolic disorders, into 4 types: 1) endocrine disorders, 2) storage or infiltration disorders (amyloidosis, hemochromatosis and familial storage disorders), 3) nutritional disorders (Kwashiorkor, beri-beri, obesity, and alcohol), and 4) diabetic heart. Thyroid disease, pheochromocytoma, and growth hormone excess or deficiency may contribute to usually reversible dilated cardiomyopathy. Glucogen storage diseases can be presented with myopathy, liver, and heart failure. Lysosomal storage diseases can provoke cardiac hypertrophy, mimicking hypertrophic cardiomyopathy and arrhythmias. Hereditary hemochromatosis, an inherited disorder of iron metabolism, leads to tissue iron overload in different organs, including the heart. Cardiac amyloidosis is the result of amyloid deposition in the heart, formed from breakdown of normal or abnormal proteins that leads to increased heart stiffness, restrictive cardiomyopathy, and heart failure. Finally, nutritional disturbances and metabolic diseases, such as Kwashiorkor, beri-beri, obesity, alcohol consumption, and diabetes mellitus may also lead to severe cardiac dysfunction. CMR, through its capability to reliably assess anatomy, function, inflammation, rest-stress myocardial perfusion, myocardial fibrosis, aortic distensibility, iron and/or fat deposition can serve as an excellent tool for early diagnosis of heart involvement, risk stratification, treatment evaluation, and long term follow-up of patients with metabolic cardiomyopathies. PMID:26197853

  3. Role of left ventricular twist mechanics in cardiomyopathies, dance of the helices

    PubMed Central

    Kauer, Floris; Geleijnse, Marcel Leonard; van Dalen, Bastiaan Martijn

    2015-01-01

    Left ventricular twist is an essential part of left ventricular function. Nevertheless, knowledge is limited in “the cardiology community” as it comes to twist mechanics. Fortunately the development of speckle tracking echocardiography, allowing accurate, reproducible and rapid bedside assessment of left ventricular twist, has boosted the interest in this important mechanical aspect of left ventricular deformation. Although the fundamental physiological role of left ventricular twist is undisputable, the clinical relevance of assessment of left ventricular twist in cardiomyopathies still needs to be established. The fact remains; analysis of left ventricular twist mechanics has already provided substantial pathophysiological understanding on a comprehensive variety of cardiomyopathies. It has become clear that increased left ventricular twist in for example hypertrophic cardiomyopathy may be an early sign of subendocardial (microvascular) dysfunction. Furthermore, decreased left ventricular twist may be caused by left ventricular dilatation or an extensive myocardial scar. Finally, the detection of left ventricular rigid body rotation in noncompaction cardiomyopathy may provide an indispensible method to objectively confirm this difficult diagnosis. All this endorses the value of left ventricular twist in the field of cardiomyopathies and may further encourage the implementation of left ventricular twist parameters in the “diagnostic toolbox” for cardiomyopathies. PMID:26322187

  4. DDD pacing in hypertrophic cardiomyopathy: a multicentre clinical experience.

    PubMed Central

    Slade, A. K.; Sadoul, N.; Shapiro, L.; Chojnowska, L.; Simon, J. P.; Saumarez, R. C.; Dodinot, B.; Camm, A. J.; McKenna, W. J.; Aliot, E.

    1996-01-01

    BACKGROUND--DDD pacing has been advocated as an effective treatment for drug refractory obstructive hypertrophic cardiomyopathy. This study reports the outcome of pacing in 56 patients with refractory symptoms referred to four tertiary centres. METHODS--Core data on symptoms, drug burden, and left ventricular outflow tract gradient were recorded. Patients underwent a temporary pacing study with optimisation of the atrioventricular (AV) delay for greatest gradient reduction without haemodynamic compromise. Patients were assessed after implantation in terms of changes in symptoms, drug load, and outflow tract gradient. RESULTS--56 patients underwent pacing assessment. The mean (SD) left ventricular outflow tract gradient before pacing was 78 (31) mm Hg. At temporary study the mean (SD) left ventricular outflow tract gradient was 38 (24) mm Hg with a median (range) optimised sensed AV delay of 65 (25-125) ms. Fifty three patients were implanted and followed up for a mean (SD) of 11 (11) months. The median (range) programmed sensed AV delay was 60 (31-200) ms. Left ventricular outflow tract gradient at follow up was 36 (25) mm Hg. Forty four patients had improved functional class. Although a correlation (r = 0.69) was shown between acute and chronic left ventricular outflow tract gradient reduction, there was no correlation between magnitude of gradient reduction and functional improvement, and no appreciable change in pharmacological burden. CONCLUSION--This series confirms symptomatic improvement after DDD pacing in hypertrophic cardiomyopathy. There remains, however, a discrepancy between perceived symptomatic benefit and modest objective improvement. Furthermore, the optimal outcome has been achieved only with continued pharmacological treatment. Current methods of temporary evaluation do not predict functional outcome which seems to be independent of the magnitude of gradient reduction. PMID:8624871

  5. Radiofrequency catheter septal ablation for hypertrophic obstructive cardiomyopathy in children

    PubMed Central

    Emmel, M.; Sreeram, N.

    2005-01-01

    Background The definitive therapeutic options for symptomatic obstructive cardiomyopathy in childhood are restricted. At present, extensive surgical myectomy is the only procedure that is of proven benefit. Patients and Methods Three patients, aged 5, 11 and 17 years, respectively, with progressive hypertrophic obstructive cardiomyopathy and increasing symptoms were considered for radiofrequency catheter septal ablation. The peak Doppler gradient recorded on several occasions ranged between 50 to 90mmHg. Via a femoral arterial approach, the His bundle was initially plotted and marked using the LocaLisa navigation system. Subsequently, using a cooled tip catheter a series of lesions were placed in the hypertrophied septum, taking care to stay away from the His bundle. A total of 17, 50 and 45 lesions were applied in the three patients. In one case, the procedure was complicated by two episodes of ventricular fibrillation requiring DC cardioversion but without any neurological sequelae. Results The preablation peak-to-peak gradient between left ventricle and aorta was 50 mmHg, 60 mmHg and 60 mmHg, respectively, and remained unchanged immediately after the procedure. All patients were discharged from hospital 48 hours later. Serial measurement of serum troponin T and CK-MB isoenzyme confirmed significant myocardial necrosis. Follow-up echocardiography both at seven days and at six weeks postablation confirmed a beneficial haemodynamic result, with reduction of left ventricular outflow obstruction and relief of symptoms. Conclusion In young children, in whom alcohol-induced septal ablation is not an option, radiofrequency catheter ablation offers an alternative to surgery, with the benefits of repeatability and a lower risk of procedure-related permanent AV block. ImagesFigure 1Figure 2Figure 3Figure 4 PMID:25696442

  6. Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

    PubMed Central

    Xu, Tianhong; Yang, Zhao; Vatta, Matteo; Rampazzo, Alessandra; Beffagna, Giorgia; Pillichou, Kalliopi; Scherer, Steven E.; Saffitz, Jeffrey; Kravitz, Joshua; Zareba, Wojciech; Danieli, Gian Antonio; Lorenzon, Alessandra; Nava, Andrea; Bauce, Barbara; Thiene, Gaetano; Basso, Cristina; Calkins, Hugh; Gear, Kathy; Marcus, Frank; Towbin, Jeffrey A.

    2010-01-01

    Objective: To define the genetic basis of arrhythmogenic right ventricular cardiomyopathy. Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC), characterized by right ventricular fibrofatty replacement and arrhythmias, causes sudden death. Autosomal dominant Inheritance, reduced penetrance, and 7 desmosome-encoding causative genes are known. The basis of low penetrance is poorly understood. Methods: ARVC probands and family members were enrolled, blood obtained, lymphoblastoid cell lines immortalized, DNA extracted, PCR amplification of desmosome-encoding genes performed, PCR products sequenced and diseased tissue samples studied for intercellular junction protein distribution using confocal immunofluorescence microscopy and antibodies against key proteins. Results: We identified 21 variants in plakophilin-2 (PKP2) in 38 of 198 probands (19%), including missense, nonsense, splice site, and deletion/insertion mutations. Pedigrees showed wide intra-familial variability (severe early-onset disease to asymptomatic individuals). In 9/38 probands, PKP2 variants were identified that were encoded in trans (compound heterozygosity). The 38 probands hosting PKP2 variants were screened for other desmosomal genes mutations; second variants (digenic heterozygosity) were identified in 16/38 subjects with PKP2 variants (42%) including desmoplakin (DSP, n=6), desmoglein-2 (DSG2, n=5), plakophilin-4 (PKP4, n=1), and desmocollin-2 (DSC2, n=1). Heterozygous mutations in non-PKP 2desmosomal genes occurred in 14/198 subjects (7%), including DSP (n=4), DSG2 (n=5), DSC2 (n=3), and junctional plakoglobin (JUP, n=2). All variants occurred in conserved regions; none were identified in 700 ethnic-matched controls. Immunohistochemical analysis demonstrated abnormalities of protein architecture. Conclusions: These data suggest that the genetic basis of ARVC includes reduced penetrance with compound and digenic heterozygosity. Disturbed junctional cytoarchitecture in subjects

  7. Abnormal skeletal muscle bioenergetics in familial hypertrophic cardiomyopathy.

    PubMed Central

    Thompson, C. H.; Kemp, G. J.; Taylor, D. J.; Conway, M.; Rajagopalan, B.; O'Donoghue, A.; Styles, P.; McKenna, W. J.; Radda, G. K.

    1997-01-01

    OBJECTIVE: To determine the skeletal muscle metabolic manifestations of familial hypertrophic cardiomyopathy. DESIGN: A case-control study. SETTING: 31P magnetic resonance spectroscopy of the calf muscle was performed on volunteers from a centre specialising in familial hypertrophic cardiomyopathy. PATIENTS: Five patients with abnormal beta myosin heavy chain protein in cardiac and skeletal muscle and five patients with a troponin T abnormality in cardiac muscle were compared with healthy controls. RESULTS: High energy phosphate metabolism in vivo was examined in a non-invasive manner. In resting muscle, the beta myosin heavy chain group had a higher ratio of phosphocreatine to ATP concentration (4.51 (SD 0.17)) than either the troponin T group (3.88 (0.42)) or controls (n = 16; 4.04 (0.40)). Exercise duration was reduced compared to controls, and during the fourth minute of exercise phosphocreatine depletion and muscle acidification were greater in both patient groups. After exercise, the recovery of phosphocreatine-an index of oxidative metabolic capacity of the muscle-was slower in the beta myosin heavy chain group (mean half time 0.65 (0.08) minutes) than in the troponin T group (0.60 (0.17) minutes) or controls (0.48 (0.14) minutes). CONCLUSIONS: Exercise metabolism was abnormal in both groups of subjects, and the affected contractile protein determined the metabolic changes in muscle at rest and during recovery. In patients with abnormal beta myosin heavy chain protein, there was a decrease in oxidative capacity consistent with the reduction in mitochondria reported in muscle biopsy studies of similar patients. PMID:9326994

  8. Quality of Life in Survivors of Peripartum Cardiomyopathy.

    PubMed

    Koutrolou-Sotiropoulou, Paraskevi; Lima, Fabio Vasconcelos; Stergiopoulos, Kathleen

    2016-07-15

    Little data exist with regard to the effect of peripartum cardiomyopathy (PPCM) on quality of life. The aim of this study was to determine the impact of PPCM on quality of life and emotional well-being. We sought to determine the feasibility of using social media to perform quality of life research. We conducted a study using a survey distributed to established members of "Peripartum Cardiomyopathy Survivors" support group on the social networking site Facebook. A total of 116 women completed the survey (age 36 ± 6.4 years; 91% white, 75% married, 46% college educated), with 4.9 ± 0.5 years (range 0.02 to 24 years) since the initial diagnosis. Most women (41%) never returned to their baseline level of activity, and 28% discontinued their job because of the diagnosis. Most respondents (56%) were not limited or only slightly limited by heart failure symptoms over the past 2 months. Most respondents (56%) never returned to their baseline emotionally after the diagnosis of PPCM, and most patients (73%) were dissatisfied with their current level of heart failure symptoms. Most patients (67%) felt discouraged frequently (more than several times per month) because of heart failure. Only 26% of women were satisfied with the counseling they received from their providers. The emotional and physical burden of PPCM on young mothers with PPCM years after the diagnosis is striking. Identifying strategies that promote better emotional health and potential treatment strategies may be required. PMID:27239023

  9. Anesthetic experience using extracorporeal membrane oxygenation for cesarean section in the patient with peripartum cardiomyopathy: a case report

    PubMed Central

    Kim, Han-Young; Jeon, Hyung-Joon; Yun, Ji-Hyun; Lee, Jong-Hyuk; Lee, Gang-Geon

    2014-01-01

    Peripartum cardiomyopathy is a rare form of cardiomyopathy that is associated with significant mortality. It can cause a cardiac arrest during cesarean section even though the patient does not have any previous symptom and sign. The most important thing of anesthesia in this patient is an optimization of hemodynamic and respiratory status. We report the successful general anesthesia using of extracorporeal membrane oxygenation for cesarean section in a 34-year-old woman with fulminant peripartum cardiomyopathy. PMID:24910733

  10. TORSADES DE POINTES ASSOCIATED WITH TAKOTSUBO CARDIOMYOPATHY IN AN ANOREXIA NERVOSA PATIENT DURING EMERGENCE FROM GENERAL ANESTHESIA.

    PubMed

    Kawano, Hiroaki; Kinoshita, Michiko; Kondo, Akio; Yamada, Yasuhito; Inoue, Masaya

    2016-06-01

    Takotsubo cardiomyopathy, also known as stress-induced cardiomyopathy, is a disease in which the patient exhibits transient, reversible left ventricular dysfunction that is triggered by physical or emotional stress. Prolongation of QT interval, a risk factor for arrhythmia and sudden death, has been reported to be prevalent among patients with Takotsubo cardiomyopathy and is also observed in those with severe anorexia nervosa. In this report, we describe the rare case of a 30-year-old female patient with anorexia nervosa who developed Torsades de Pointes associated with Takotsubo cardiomyopathy during emergence from general anesthesia for emergency exploratory laparotomy. PMID:27487642

  11. ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)

    ClinicalTrials.gov

    2016-02-12

    Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC); Amyloidosis, Hereditary; Amyloid Neuropathies, Familial; Amyloid Neuropathies; Amyloidosis, Hereditary, Transthyretin-Related; Familial Transthyretin Cardiac Amyloidosis

  12. Infrequent Illicit Methadone Use Among Stimulant-Using Patients in Methadone Maintenance Treatment Programs: A National Drug Abuse Treatment Clinical Trials Network Study

    PubMed Central

    Wu, Li-Tzy; Blazer, Dan G.; Stitzer, Maxine L.; Patkar, Ashwin A.; Blaine, Jack D.

    2009-01-01

    We sought to determine the prevalence, patterns, and correlates of past-month illicit methadone use and history of regular illicit use among stimulant-using methadone maintenance treatment patients. We obtained self-reported information on illicit methadone use from 383 participants recruited from six community-based methadone maintenance programs. Overall, 1.6% of participants reported illicit use in the past month, and 4.7% reported a history of regular use. Younger age and history of outpatient psychological treatment were associated with increased odds of past-month illicit use. Illicit methadone use among patients in maintenance programs is infrequent; however, a number of factors may increase risk of illicit use. PMID:18612886

  13. Comparative Analysis of Infrequent-Restriction-Site PCR and Pulsed-Field Gel Electrophoresis for Epidemiological Typing of Legionella pneumophila Serogroup 1 Strains

    PubMed Central

    Riffard, Serge; Presti, François Lo; Vandenesch, François; Forey, Françoise; Reyrolle, Monique; Etienne, Jerome

    1998-01-01

    Two methods were compared for the analysis of 48 unrelated and epidemiologically related Legionella pneumophila serogroup 1 isolates. These are the infrequent-restriction-site PCR (IRS-PCR) assay with adapters designed for XbaI and PstI restriction sites and the pulsed-field gel electrophoresis (PFGE) analysis determined after DNA restriction with SfiI. Both methods demonstrated a high level of discrimination with a similar capacity for differentiating 23 of the 24 unrelated isolates. PFGE analysis and IRS-PCR assay were both able to identify epidemiologically related isolates of L. pneumophila from three outbreaks. Hence, IRS-PCR assay appears to be a reproducible (intergel reproducibility, 100%) and discriminative (discriminatory index, ≥0.996) tool for typing of Legionella. Compared to PFGE, however, IRS-PCR presented an advantage through ease of performance and with attributes of rapidity and sensitivity of target DNA. PMID:9431941

  14. Prognostic value of non-sustained ventricular tachycardia and the potential role of amiodarone treatment in hypertrophic cardiomyopathy: assessment in an unselected non-referral based patient population

    PubMed Central

    Cecchi, F; Olivotto, I; Montereggi, A; Squillatini, G; Dolara, A; Maron, B

    1998-01-01

    Background—Amiodarone has been reported to reduce the likelihood of sudden death in patients with hypertrophic cardiomyopathy (HCM). However, data regarding the clinical course in HCM have traditionally come from selected referral populations biased toward assessment of high risk patients.
Aims—To evaluate antiarrhythmic treatment for sudden death in an HCM population not subject to tertiary referral bias, closely resembling the true disease state present in the community.
Methods—Cardiovascular mortality was assessed in relation to the occurrence of non-sustained ventricular tachycardia (NSVT) on 24 or 48 hour ambulatory Holter recording, a finding previously regarded as a marker for sudden death, particularly when the arrhythmia was frequent, repetitive or prolonged. 167 consecutive patients were analysed by multiple Holter ECG recordings (mean (SD) 157 (129) hours) and followed for a mean of 10 (5) years. Only patients with multiple repetitive NSVT were treated with amiodarone, and in relatively low doses (220 (44) mg/day).
Results—Nine HCM related deaths occurred: 8 were the consequence of congestive heart failure, but only 1 was sudden and unexpected. Three groups of patients were segregated based on their NSVT profile: group 1 (n = 39), multiple (⩾ 2 runs) and repetitive bursts (on ⩾ 2 Holters) of NSVT, or prolonged runs of ventricular tachycardia, included 4 deaths due to heart failure; group 2 (n = 38), isolated infrequent bursts of NSVT, included 1 sudden death; group 3 (n = 90), without NSVT, included 4 heart failure deaths. Kaplan-Meier survival analysis showed no significant differences in survival between the three groups throughout follow up.
Conclusions—In an unselected patient population with HCM, isolated, non-repetitive bursts of NSVT were not associated with adverse prognosis and so this arrhythmia does not appear to justify chronic antiarrhythmic treatment. Amiodarone, administered in relatively low

  15. Early Administration of Carvedilol Protected against Doxorubicin-Induced Cardiomyopathy.

    PubMed

    Chen, Yung-Lung; Chung, Sheng-Ying; Chai, Han-Tan; Chen, Chih-Hung; Liu, Chu-Feng; Chen, Yi-Ling; Huang, Tien-Hung; Zhen, Yen-Yi; Sung, Pei-Hsun; Sun, Cheuk-Kwan; Chua, Sarah; Lu, Hung-I; Lee, Fan-Yen; Sheu, Jiunn-Jye; Yip, Hon-Kan

    2015-12-01

    This study tested for the benefits of early administration of carvedilol as protection against doxorubicin (DOX)-induced cardiomyopathy. Thirty male, adult B6 mice were categorized into group 1 (untreated control), group 2 [DOX treatment (15 mg/every other day for 2 weeks, i.p.], and group 3 [carvedilol (15 mg/kg/d, from day 7 after DOX treatment for 28 days)], and euthanized by day 35 after DOX treatment. By day 35, the left ventricular ejection fraction (LVEF) was significantly lower in group 2 than in groups 1 and 3, and significantly lower in group 3 than in group 1, whereas the left ventricular (LV) end-diastolic and LV end-systolic dimensions showed an opposite pattern to the LVEF among the three groups. The protein expressions of fibrotic (Smad3, TGF-β), apoptotic (BAX, cleaved caspase 3, PARP), DNA damage (γ-H2AX), oxidative stress (oxidized protein), mitochondrial damage (cytosolic cytochrome-C), heart failure (brain natriuretic peptide), and hypertrophic (β-MHC) biomarkers of the LV myocardium showed an opposite pattern to the LVEF among the three groups. The protein expressions of antifibrotic (BMP-2, Smad1/5), α-MHC, and phosphorylated-Akt showed an identical pattern to the LVEF among the three groups. The microscopic findings of fibrotic and collagen-deposition areas and the numbers of γ-H2AX(+) and 53BP1(+) cells in the LV myocardium exhibited an opposite pattern, whereas the numbers of endothelial cell (CD31(+), vWF(+)) markers showed an identical pattern to the LVEF among the three groups. Cardiac stem cell markers (C-kit(+) and Sca-1(+) cells) were significantly and progressively increased from group 1 to group 3. Additionally, the in vitro study showed carvedilol treatment significantly inhibited DOX-induced cardiomyoblast DNA (CD90/XRCC1(+), CD90/53BP1(+), and r-H2AX(+) cells) damage. Early carvedilol therapy protected against DOX-induced DNA damage and cardiomyopathy. PMID:26511374

  16. A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

    PubMed Central

    Gigli, Marta; Begay, Rene L.; Morea, Gaetano; Graw, Sharon L.; Sinagra, Gianfranco; Taylor, Matthew R. G.; Granzier, Henk; Mestroni, Luisa

    2016-01-01

    Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN, the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allows a large number of genes to be sequenced simultaneously and provides the opportunity to easily analyze giant genes such as TTN. Mutations in the TTN gene can cause cardiomyopathies, in particular dilated cardiomyopathy (DCM). DCM is the most common form of cardiomyopathy, and it is characterized by systolic dysfunction and dilation of the left ventricle. TTN truncating variants have been described as the most common cause of DCM, while the real impact of TTN missense variants in the pathogenesis of DCM is still unclear. In a recent population screening study, rare missense variants potentially pathogenic based on bioinformatic filtering represented only 12.6% of the several hundred rare TTN missense variants found, suggesting that missense variants are very common in TTN and are frequently benign. The aim of this review is to understand the clinical role of TTN mutations in DCM and in other cardiomyopathies. Whereas TTN truncations are common in DCM, there is evidence that TTN truncations are rare in the hypertrophic cardiomyopathy (HCM) phenotype. Furthermore, TTN mutations can also cause arrhythmogenic right ventricular cardiomyopathy (ARVC) with distinct clinical features and outcomes. Finally, the identification of a rare TTN missense variant cosegregating with the restrictive cardiomyopathy (RCM) phenotype suggests that TTN is a novel disease-causing gene in this disease. Clinical diagnostic testing is currently able to analyze over 100 cardiomyopathy genes, including TTN; however, the size and presence of extensive genetic variation in TTN presents clinical challenges in determining significant disease-causing mutations. This review discusses the current

  17. Animal and in silico models for the study of sarcomeric cardiomyopathies

    PubMed Central

    Duncker, Dirk J.; Bakkers, Jeroen; Brundel, Bianca J.; Robbins, Jeff; Tardiff, Jil C.; Carrier, Lucie

    2015-01-01

    Over the past decade, our understanding of cardiomyopathies has improved dramatically, due to improvements in screening and detection of gene defects in the human genome as well as a variety of novel animal models (mouse, zebrafish, and drosophila) and in silico computational models. These novel experimental tools have created a platform that is highly complementary to the naturally occurring cardiomyopathies in cats and dogs that had been available for some time. A fully integrative approach, which incorporates all these modalities, is likely required for significant steps forward in understanding the molecular underpinnings and pathogenesis of cardiomyopathies. Finally, novel technologies, including CRISPR/Cas9, which have already been proved to work in zebrafish, are currently being employed to engineer sarcomeric cardiomyopathy in larger animals, including pigs and non-human primates. In the mouse, the increased speed with which these techniques can be employed to engineer precise ‘knock-in’ models that previously took years to make via multiple rounds of homologous recombination-based gene targeting promises multiple and precise models of human cardiac disease for future study. Such novel genetically engineered animal models recapitulating human sarcomeric protein defects will help bridging the gap to translate therapeutic targets from small animal and in silico models to the human patient with sarcomeric cardiomyopathy. PMID:25600962

  18. Metabolic stress–induced activation of FoxO1 triggers diabetic cardiomyopathy in mice

    PubMed Central

    Battiprolu, Pavan K.; Hojayev, Berdymammet; Jiang, Nan; Wang, Zhao V.; Luo, Xiang; Iglewski, Myriam; Shelton, John M.; Gerard, Robert D.; Rothermel, Beverly A.; Gillette, Thomas G.; Lavandero, Sergio; Hill, Joseph A.

    2012-01-01

    The leading cause of death in diabetic patients is cardiovascular disease; diabetic cardiomyopathy is typified by alterations in cardiac morphology and function, independent of hypertension or coronary disease. However, the molecular mechanism that links diabetes to cardiomyopathy is incompletely understood. Insulin resistance is a hallmark feature of diabetes, and the FoxO family of transcription factors, which regulate cell size, viability, and metabolism, are established targets of insulin and growth factor signaling. Here, we set out to evaluate a possible role of FoxO proteins in diabetic cardiomyopathy. We found that FoxO proteins were persistently activated in cardiac tissue in mice with diabetes induced either genetically or by high-fat diet (HFD). FoxO activity was critically linked with development of cardiomyopathy: cardiomyocyte-specific deletion of FoxO1 rescued HFD-induced declines in cardiac function and preserved cardiomyocyte insulin responsiveness. FoxO1-depleted cells displayed a shift in their metabolic substrate usage, from free fatty acids to glucose, associated with decreased accumulation of lipids in the heart. Furthermore, we found that FoxO1-dependent downregulation of IRS1 resulted in blunted Akt signaling and insulin resistance. Together, these data suggest that activation of FoxO1 is an important mediator of diabetic cardiomyopathy and is a promising therapeutic target for the disease. PMID:22326951

  19. Beneficial effects of long-term beta-blockade in congestive cardiomyopathy.

    PubMed Central

    Swedberg, K; Hjalmarson, A; Waagstein, F; Wallentin, I

    1980-01-01

    Twenty-eight patients with heart failure caused by congestive cardiomyopathy, which had been diagnosed according to the criteria of Goodwin and Oakley, were treated with beta-blocking agents for six to 62 months, except for four patients who died within two months. Repeated non-invasive investigations were performed before and during treatment as well as exercise tests and chest x-rays. The echocardiographic and pulse curve findings indicated an improvement in systolic and diastolic myocardial function. The ejection fraction increased from 0.32 +/- 0.02 to 0.42 +/- 0.04, and the third heart sound amplitude and rapid filling wave were significantly reduced. The functional classification improved in 15 patients while in 12 patients it remained unchanged and in one it deteriorated. During follow-up, 10 patients died, most of them suddenly. The mortality was lower than expected in this severely ill group of patients. The beneficial effect of chronic beta-blockade in patients with congestive cardiomyopathy suggests that catecholamines are involved in the pathogenesis of congestive cardiomyopathy, and that patients with congestive cardiomyopathy may have inappropriate sympathetic cardiac stimulation which can be reduced by chronic beta-blockade. It is suggested that beta-receptor blockade should be added to conventional treatment with digitalis and diuretics in all patients with severe myocardial failure caused by congestive cardiomyopathy. PMID:6107090

  20. Two pediatric cases of variant neurogenic stress cardiomyopathy after intracranial hemorrhage.

    PubMed

    Wittekind, Samuel G; Yanay, Ofer; Johnson, Erin M; Gibbons, Edward F

    2014-10-01

    Takotsubo cardiomyopathy, also known as stress-induced cardiomyopathy, is an acquired form of left ventricular systolic dysfunction seen in the setting of physiologic stress and the absence of coronary artery disease. It is thought to be caused by excessive sympathetic stimulation. It is well described in the adult literature associated with subarachnoid hemorrhage where it is known as neurogenic stress cardiomyopathy (NSC), but few such pediatric cases have been reported. We describe our experience with 2 children (13- and 10-year-old girls) who presented with spontaneous intracranial hemorrhage followed by pulmonary edema and shock. Echocardiography revealed similar patterns of left ventricular wall motion abnormalities consistent with NSC, inverted Takotsubo variant. One child progressed to death, whereas the other made a remarkable recovery, including significant improvement in cardiac function over the course of 1 week. We argue that at least 1 of these cases represents true stress-induced cardiomyopathy. This report will alert pediatricians to this transient cardiomyopathy that is likely underdiagnosed in pediatric intensive care. We also highlight the challenges of managing both shock and elevated intracranial pressure in the setting of NSC. PMID:25201800

  1. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.

    PubMed

    Hsu, Ying-Han R; Yogasundaram, Haran; Parajuli, Nirmal; Valtuille, Lucas; Sergi, Consolato; Oudit, Gavin Y

    2016-01-01

    Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Cardiac dysfunction occurs in approximately a third of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, a stereotypical example of a mitochondrial disorder leading to a cardiomyopathy. We performed unique comparative ultrastructural and gene expression in a MELAS heart compared with non-failing controls. Our results showed a remarkable increase in mitochondrial inclusions and increased abnormal mitochondria in MELAS cardiomyopathy coupled with variable sarcomere thickening, heterogeneous distribution of affected cardiomyocytes and a greater elevation in the expression of disease markers. Investigation and management of patients with mitochondrial cardiomyopathy should follow the well-described contemporary heart failure clinical practice guidelines and include an important role of medical and device therapies. Directed metabolic therapy is lacking, but current research strategies are dedicated toward improving mitochondrial function in patients with mitochondrial disorders. PMID:26712328

  2. Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes

    PubMed Central

    Eschenhagen, Thomas; Mummery, Christine; Knollmann, Bjorn C.

    2015-01-01

    One of the obstacles to a better understanding of the pathogenesis of human cardiomyopathies has been poor availability of heart-tissue samples at early stages of disease development. This has possibly changed by the advent of patient-derived induced pluripotent stem cell (hiPSC) from which cardiomyocytes can be derived in vitro. The main promise of hiPSC technology is that by capturing the effects of thousands of individual gene variants, the phenotype of differentiated derivatives of these cells will provide more information on a particular disease than simple genotyping. This article summarizes what is known about the ‘human cardiomyopathy or heart failure phenotype in vitro’, which constitutes the reference for modelling sarcomeric cardiomyopathies in hiPSC-derived cardiomyocytes. The current techniques for hiPSC generation and cardiac myocyte differentiation are briefly reviewed and the few published reports of hiPSC models of sarcomeric cardiomyopathies described. A discussion of promises and challenges of hiPSC-modelling of sarcomeric cardiomyopathies and individualized approaches is followed by a number of questions that, in the view of the authors, need to be answered before the true potential of this technology can be evaluated. PMID:25618410

  3. Mechanistic Heterogeneity in Contractile Properties of α-Tropomyosin (TPM1) Mutants Associated with Inherited Cardiomyopathies*

    PubMed Central

    Gupte, Tejas M.; Haque, Farah; Gangadharan, Binnu; Sunitha, Margaret S.; Mukherjee, Souhrid; Anandhan, Swetha; Rani, Deepa Selvi; Mukundan, Namita; Jambekar, Amruta; Thangaraj, Kumarasamy; Sowdhamini, Ramanathan; Sommese, Ruth F.; Nag, Suman; Spudich, James A.; Mercer, John A.

    2015-01-01

    The most frequent known causes of primary cardiomyopathies are mutations in the genes encoding sarcomeric proteins. Among those are 30 single-residue mutations in TPM1, the gene encoding α-tropomyosin. We examined seven mutant tropomyosins, E62Q, D84N, I172T, L185R, S215L, D230N, and M281T, that were chosen based on their clinical severity and locations along the molecule. The goal of our study was to determine how the biochemical characteristics of each of these mutant proteins are altered, which in turn could provide a structural rationale for treatment of the cardiomyopathies they produce. Measurements of Ca2+ sensitivity of human β-cardiac myosin ATPase activity are consistent with the hypothesis that hypertrophic cardiomyopathies are hypersensitive to Ca2+ activation, and dilated cardiomyopathies are hyposensitive. We also report correlations between ATPase activity at maximum Ca2+ concentrations and conformational changes in TnC measured using a fluorescent probe, which provide evidence that different substitutions perturb the structure of the regulatory complex in different ways. Moreover, we observed changes in protein stability and protein-protein interactions in these mutants. Our results suggest multiple mechanistic pathways to hypertrophic and dilated cardiomyopathies. Finally, we examined a computationally designed mutant, E181K, that is hypersensitive, confirming predictions derived from in silico structural analysis. PMID:25548289

  4. Biventricular Failure due to Stress Cardiomyopathy after Pericardiectomy for Constrictive Pericarditis

    PubMed Central

    Groves, Elliott M.

    2013-01-01

    Importance. Constrictive pericarditis is a rare clinical entity that frequently necessitates surgical intervention. Here we present a case of biventricular failure due to stress cardiomyopathy after pericardiectomy. This is an extremely rare complication that is not well described and does not have a definitive mechanism. Observations. A 40-year-old Ecuadorian woman who was found to have constrictive pericarditis due to Mycobacterium tuberculosis infection was referred to our institution. The presence of constrictive pericarditis was confirmed by echocardiography, computed tomography, magnetic resonance imaging, and cardiac catheterization. Following pericardiectomy, the patient developed biventricular failure consistent with stress cardiomyopathy (Takotsubo cardiomyopathy), based on the echocardiographic assessment of the ventricles, which demonstrated an akinetic apex and hyperactive base in both ventricles, the absence of significant epicardial coronary atherosclerosis, and prompt normalization of the cardiac function after intensive medical therapy. Conclusions and Relevance. Biventricular failure in the form of stress cardiomyopathy after pericardiectomy in the manner presented here has not been previously described in the literature. While postulations as to the cause of single ventricle dysfunction have been described, the exact mechanism is unclear and current theories do not explain the clinical features in this case of stress cardiomyopathy after pericardiectomy. PMID:24369470

  5. Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.

    PubMed

    Fish, Maryam; Shaboodien, Gasnat; Kraus, Sarah; Sliwa, Karen; Seidman, Christine E; Burke, Michael A; Crotti, Lia; Schwartz, Peter J; Mayosi, Bongani M

    2016-01-01

    Cardiomyopathy is an important cause of heart failure in Sub-Saharan Africa, accounting for up to 30% of adult heart failure hospitalisations. This high prevalence poses a challenge in societies without access to resources and interventions essential for disease management. Over 80 genes have been implicated as a cause of cardiomyopathy. Mutations in the phospholamban (PLN) gene are associated with dilated cardiomyopathy (DCM) and severe heart failure. In Africa, the prevalence of PLN mutations in cardiomyopathy patients is unknown. Our aim was to screen 315 patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), DCM (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt analysis and DNA sequencing. We detected the previously reported PLN c.25C > T (p.R9C) mutation in a South African family with severe autosomal dominant DCM. Haplotype analysis revealed that this mutation occurred against a different haplotype background to that of the original North American family and was therefore unlikely to have been inherited from a common ancestor. No other mutations in PLN were detected (mutation prevalence = 0.2%). We conclude that PLN is a rare cause of cardiomyopathy in African patients. The PLN p.R9C mutation is not well-tolerated, emphasising the importance of this gene in cardiac function. PMID:26917049

  6. An Atypical Case of Apical Hypertrophic Cardiomyopathy: Absence of Giant T Waves in spite of Extreme Apical Wall Hypertrophy.

    PubMed

    Sanidas, Elias; Bonou, Maria; Anastasiadis, Georgios; Tzanis, Georgios; Barbetseas, John

    2015-01-01

    Apical hypertrophic cardiomyopathy is an uncommon variant of hypertrophic cardiomyopathy, with hypertrophy mainly affecting the apex of the left ventricle. We hereby describe a case of an octogenarian female patient who was randomly diagnosed with AHCM due to other comorbidities. PMID:26779351

  7. An Atypical Case of Apical Hypertrophic Cardiomyopathy: Absence of Giant T Waves in spite of Extreme Apical Wall Hypertrophy

    PubMed Central

    Sanidas, Elias; Bonou, Maria; Anastasiadis, Georgios; Tzanis, Georgios; Barbetseas, John

    2015-01-01

    Apical hypertrophic cardiomyopathy is an uncommon variant of hypertrophic cardiomyopathy, with hypertrophy mainly affecting the apex of the left ventricle. We hereby describe a case of an octogenarian female patient who was randomly diagnosed with AHCM due to other comorbidities. PMID:26779351

  8. Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

    PubMed Central

    Fish, Maryam; Shaboodien, Gasnat; Kraus, Sarah; Sliwa, Karen; Seidman, Christine E.; Burke, Michael A.; Crotti, Lia; Schwartz, Peter J.; Mayosi, Bongani M.

    2016-01-01

    Cardiomyopathy is an important cause of heart failure in Sub-Saharan Africa, accounting for up to 30% of adult heart failure hospitalisations. This high prevalence poses a challenge in societies without access to resources and interventions essential for disease management. Over 80 genes have been implicated as a cause of cardiomyopathy. Mutations in the phospholamban (PLN) gene are associated with dilated cardiomyopathy (DCM) and severe heart failure. In Africa, the prevalence of PLN mutations in cardiomyopathy patients is unknown. Our aim was to screen 315 patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), DCM (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt analysis and DNA sequencing. We detected the previously reported PLN c.25C > T (p.R9C) mutation in a South African family with severe autosomal dominant DCM. Haplotype analysis revealed that this mutation occurred against a different haplotype background to that of the original North American family and was therefore unlikely to have been inherited from a common ancestor. No other mutations in PLN were detected (mutation prevalence = 0.2%). We conclude that PLN is a rare cause of cardiomyopathy in African patients. The PLN p.R9C mutation is not well-tolerated, emphasising the importance of this gene in cardiac function. PMID:26917049

  9. Mechanisms of Cardiotoxicity of Cancer Chemotherapeutic Agents: Cardiomyopathy and Beyond.

    PubMed

    Moudgil, Rohit; Yeh, Edward T H

    2016-07-01

    Tremendous strides have been made in the treatment of various oncological diseases such that patients are surviving longer and are having better quality of life. However, the success has been tainted by the iatrogenic cardiac toxicities. This is especially concerning in the younger population who are facing cardiac disease such as heart failure in their 30s and 40s as the consequence of the anthracycline's side effects (used for childhood leukemia and lymphoma). This resulted in the awareness of cardiotoxic effects of anticancer drugs and emergence of a new discipline: oncocardiology. Since then, numerous anticancer drugs have been correlated to cardiomyopathy. Additionally, other cardiovascular effects have been identified, which includes but is not limited to myocardial infarction, thrombosis, hypertension, arrhythmias, and pulmonary hypertension. In this review we examine some of the anticancer agents that mitigate cardiotoxicity and present current knowledge of molecular mechanism(s). The aim of the review is to ignite awareness of emerging cardiotoxic effects as new generations of anticancer agents are being tested in clinical trials and introduced as part of the therapeutic armamentarium to our oncological patients. PMID:27117975

  10. Sepsis-Induced Takotsubo Cardiomyopathy Leading to Torsades de Pointes.

    PubMed

    Patel, Nirav; Shenoy, Abhishek; Dous, George; Kamran, Haroon; El-Sherif, Nabil

    2016-01-01

    Background. Takotsubo cardiomyopathy (TCM) is sudden and reversible myocardial dysfunction often attributable to physical or emotional triggers. Case Report. We describe a 51-year-old man presented to emergency department with sepsis from urinary tract infection (UTI). He was placed on cefepime for UTI and non-ST-elevation myocardial infarction protocol given elevated troponins with chest pain. Subsequently, patient was pulseless with torsades de pointes (TdP) and then converted to sinus rhythm with cardioversion. An echocardiogram revealed low ejection fraction with hypokinesis of the apical wall. Over 48 hours, the patient was extubated and stable on 3 L/min nasal cannula. He underwent a cardiac catheterization to evaluate coronary artery disease (CAD) and was found to have mild nonobstructive CAD with no further findings. Conclusion. TCM is a rare disorder presenting with symptoms similar to acute coronary syndrome. Though traditionally elicited by physical and emotional triggers leading to transient left ventricular dysfunction, our case suggests that it may also be triggered by a urinary tract infection and lead to severe QT prolongation and a malignant ventricular arrhythmia in TdP. PMID:27525128

  11. Relevance of truncating titin mutations in dilated cardiomyopathy.

    PubMed

    Akinrinade, O; Alastalo, T-P; Koskenvuo, J W

    2016-07-01

    Dilated cardiomyopathy (DCM), a genetically heterogeneous cardiac disease characterized by left ventricular dilatation and systolic dysfunction, is caused majorly by truncations of titin (TTN), especially in A-band region. Clinical interpretation of TTN-truncating variants (TTNtv) has been challenged by the existing inaccurate variant assessment strategies and uncertainty in the true frequency of TTNtv across the general population. We aggregated TTNtv identified in 1788 DCM patients and compared the variants with those reported in over 60,000 Exome Aggregation Consortium reference population. We implemented our current variant assessment strategy that prioritizes TTNtv affecting all transcripts of the gene, and observed a decline in the prevalence of TTNtv in DCM. Despite this decline, TTNtv are more prevalent in DCM patients compared with reference population (p = 4.1 × 10(-295) ). Moreover, our extended analyses confirmed the enrichment of TTNtv not only in the A-band but also in the I/A-band junction of TTN. We estimated the probability of pathogenicity of TTNtv affecting all transcripts of TTN, identified in unselected DCM patients to be 97.8% (likelihood ratio (LR) = 42.2). We emphasize that identifying a TTNtv, especially in the A-band region, has a higher risk of being disease-causing than previously anticipated, and recommend prioritizing TTNtv affecting at least five transcripts of the gene. PMID:26777568

  12. Dilated cardiomyopathy with Graves disease in a young child.

    PubMed

    Choi, Yu Jung; Jang, Jun Ho; Park, So Hyun; Oh, Jin-Hee; Koh, Dae Kyun

    2016-06-01

    Graves disease (GD) can lead to complications such as cardiac arrhythmia and heart failure. Although dilated cardiomyopathy (DCMP) has been occasionally reported in adults with GD, it is rare in children. We present the case of a 32-month-old boy with DCMP due to GD. He presented with irritability, vomiting, and diarrhea. He also had a history of weight loss over the past few months. On physical examination, he had tachycardia without fever, a mild diffuse goiter, and hepatomegaly. The chest radiograph showed cardiomegaly with pulmonary edema, while the echocardiography revealed a dilated left ventricle with an ejection fraction (EF) of 28%. The thyroid function test (TFT) showed elevated serum T3 and decreased thyroid stimulating hormone (TSH) levels. The TSH receptor autoantibody titer was elevated. He was diagnosed with DCMP with GD; treatment with methylprednisolone, diuretics, inotropics, and methimazole was initiated. The EF improved after the TFT normalized. At follow-up several months later, although the TFT results again showed evidence of hyperthyroidism, his EF had not deteriorated. His cardiac function continues to remain normal 1.5 months after treatment was started, although he still has elevated T3 and high TSH receptor antibody titer levels due to poor compliance with drug therapy. To summarize, we report a young child with GD-induced DCMP who recovered completely with medical therapy and, even though the hyperthyroidism recurred several months later, there was no relapse of the DCMP. PMID:27462586

  13. What Do Patients With Hypertrophic Cardiomyopathy Die from?

    PubMed

    Maron, Barry J; Rowin, Ethan J; Casey, Susan A; Garberich, Ross F; Maron, Martin S

    2016-02-01

    Hypertrophic cardiomyopathy (HC) has become a contemporary and treatable genetic heart disease, now with disease-related mortality reduced to as low as 0.5% per year, based largely on more effective risk stratification and the use of the implantable cardioverter-defibrillator for primary prevention of sudden death. This paradigm change in the natural history of HC has caused us to reconsider the overall mortality risk in this disease. We interrogated the databases of 2 HC referral centers, Minneapolis Heart Institute and Tufts Medical Center. Of 1,902 consecutive patients evaluated between 1992 and 2013, 1,653 patients (87%) have survived to the end of follow-up and 249 patients (13%) have died. Most deaths (178 of 249; 72%) were unrelated to HC, commonly because of cancer and predominantly in older patients. Non-HC mortality was significantly more common in adults presenting ≥ 60 years and least common in the youngest patients aged <30 years (p <0.001). Notably, deaths from non-HC causes substantially exceeded HC-related causes by 2.6-fold (p <0.001). In conclusion, only about 25% of patients with HC ultimately died of their disease, including predominantly those who were <30 years of age. These data allow patients with HC to develop a more realistic and reassured perception of their disease. PMID:26718233

  14. Norepinephrine storage, distribution, and release in diabetic cardiomyopathy

    SciTech Connect

    Ganguly, P.K.; Beamish, R.E.; Dhalla, K.S.; Innes, J.R.; Dhalla, N.S.

    1987-06-01

    The ability of hearts to store, distribute, and release norepinephrine (NE) was investigated in rats 8 wk after the induction of diabetes by an injection of streptozotocin. Chronic diabetes was associated with increased content and concentration of NE in heart and in other tissues such as kidney, brain, and spleen. Reserpine or tyramine treatment resulted in depletion of endogenous cardiac NE in control and diabetic rats. The depletion of NE stores at different times after a dose of reserpine was greater in diabetic hearts. On the other hand, NE stores in diabetic hearts were less sensitive than control hearts to low doses of tyramine but were more sensitive to high doses. The uptake of (/sup 3/H)NE was greater in diabetic hearts in isolated perfused preparations. In comparison with the control values, diabetic hearts showed a decrease in (/sup 3/H)NE in the granular fraction and an increase in the supernatant fraction. Diabetic hearts also showed an accelerated spontaneous release of (/sup 3/H)NE. The increased cardiac NE and the uptake and release of NE in diabetic animals were reversible upon treatment with insulin. These results are consistent with the view that sympathetic activity is increased in diabetic cardiomyopathy and indicate that cardiac NE in diabetic rats is maintained at a higher level partly due to an increased uptake of released NE by adrenergic nerve terminals.

  15. Private Mitochondrial DNA Variants in Danish Patients with Hypertrophic Cardiomyopathy

    PubMed Central

    Hagen, Christian M.; Aidt, Frederik H.; Havndrup, Ole; Hedley, Paula L.; Jensen, Morten K.; Kanters, Jørgen K.; Pham, Tam T.; Bundgaard, Henning; Christiansen, Michael

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease primarily caused by mutations in genes coding for sarcomeric proteins. A molecular-genetic etiology can be established in ~60% of cases. Evolutionarily conserved mitochondrial DNA (mtDNA) haplogroups are susceptibility factors for HCM. Several polymorphic mtDNA variants are associated with a variety of late-onset degenerative diseases and affect mitochondrial function. We examined the role of private, non-haplogroup associated, mitochondrial variants in the etiology of HCM. In 87 Danish HCM patients, full mtDNA sequencing revealed 446 variants. After elimination of 312 (69.9%) non-coding and synonymous variants, a further 109 (24.4%) with a global prevalence > 0.1%, three (0.7%) haplogroup associated and 19 (2.0%) variants with a low predicted in silico likelihood of pathogenicity, three variants: MT-TC: m.5772G>A, MT-TF: m.644A>G, and MT-CYB: m.15024G>A, p.C93Y remained. A detailed analysis of these variants indicated that none of them are likely to cause HCM. In conclusion, private mtDNA mutations are frequent, but they are rarely, if ever, associated with HCM. PMID:25923817

  16. Dilated cardiomyopathy with Graves disease in a young child

    PubMed Central

    Choi, Yu Jung; Jang, Jun Ho; Oh, Jin-Hee; Koh, Dae Kyun

    2016-01-01

    Graves disease (GD) can lead to complications such as cardiac arrhythmia and heart failure. Although dilated cardiomyopathy (DCMP) has been occasionally reported in adults with GD, it is rare in children. We present the case of a 32-month-old boy with DCMP due to GD. He presented with irritability, vomiting, and diarrhea. He also had a history of weight loss over the past few months. On physical examination, he had tachycardia without fever, a mild diffuse goiter, and hepatomegaly. The chest radiograph showed cardiomegaly with pulmonary edema, while the echocardiography revealed a dilated left ventricle with an ejection fraction (EF) of 28%. The thyroid function test (TFT) showed elevated serum T3 and decreased thyroid stimulating hormone (TSH) levels. The TSH receptor autoantibody titer was elevated. He was diagnosed with DCMP with GD; treatment with methylprednisolone, diuretics, inotropics, and methimazole was initiated. The EF improved after the TFT normalized. At follow-up several months later, although the TFT results again showed evidence of hyperthyroidism, his EF had not deteriorated. His cardiac function continues to remain normal 1.5 months after treatment was started, although he still has elevated T3 and high TSH receptor antibody titer levels due to poor compliance with drug therapy. To summarize, we report a young child with GD-induced DCMP who recovered completely with medical therapy and, even though the hyperthyroidism recurred several months later, there was no relapse of the DCMP. PMID:27462586

  17. Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy.

    PubMed

    Stöllberger, Claudia; Finsterer, Josef

    2007-08-01

    Restrictive cardiomyopathy (RCMP) is characterized by restrictive filling and reduced diastolic volume of either or both ventricles with normal or near-normal systolic function and wall thickness. It may occur idiopathically or as a cardiac manifestation of systemic diseases such as scleroderma, amyloidosis, Churg-Strauss syndrome, cystinosis, sarcoidosis, lymphoma, Gaucher's disease, hemochromatosis, Fabry's disease, pseudoxanthoma elasticum, hypereosinophilic syndrome, carcinoid, Noonan's syndrome, reactive arthritis, or Werner's syndrome and various neuromuscular disorders. Whereas in idiopathic RCMP the therapeutic options are only treatment of cardiac congestion, in cases with an underlying disorder, a causal therapy may be available. Patients with RCMP should be investigated as soon as the cardiac diagnosis is established for extracardiac diseases to detect a possibly treatable cause of RCMP before the disease becomes intractable. These investigations include a diligent clinical history and examination, blood tests, and ophthalmologic, otologic, dermatologic, gastroenterologic, nephrologic, hematologic, and neurologic examinations. If extracardiac examinations do not reveal a plausible cause for RCMP, endomyocardial biopsy is indicated. PMID:17680617

  18. Serum antioxidant capacity in neurological, psychiatric, renal diseases and cardiomyopathy.

    PubMed

    Sofic, E; Rustembegovic, A; Kroyer, G; Cao, G

    2002-05-01

    The role of free radicals (FR) in the pathogenesis and in the progression of many diseases has been often discussed, but not widely investigated. However, the total antioxidant capacity in the serum seems to be of great evidence. Total antioxidant capacity was determined using oxygen absorbance capacity assay (ORAC) in serum of patients suffering from depression, schizophrenia, Alzheimer's disease (AD), anorexia nervosa, Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Aids-encephalopathy, diabetic polyneuropathy (PNP), cardiomyopathy (CM), renal disease, and healthy individuals as controls (C). The results showed that the total antioxidant capacity in serum decreased significantly (p < 0.01) by 24, 20, 13, and 17% for anorexia nervosa, Aids-encephalopathy, PNP and CM respectively. In serum of patients with renal disease significantly elevated antioxidant capacity was found. The data indicated that increased oxidative stress can be involved in the pathogenesis or in the progression of PNP and CM. Decrease of serum antioxidant capacity in patients with anorexia nervosa and Aids-encephalopathy are probably due primarily to malnutrition and secondly to insufficient antioxidant and immune system. In renal disease, the accumulation of urea in serum seems to be responsible for high antioxidant capacity. In contrast, there were no changes in PD, AD, depression syndrome and schizophrenia. PMID:12111462

  19. Contemporary Outcome in Patients With Idiopathic Dilated Cardiomyopathy.

    PubMed

    Broch, Kaspar; Murbræch, Klaus; Andreassen, Arne Kristian; Hopp, Einar; Aakhus, Svend; Gullestad, Lars

    2015-09-15

    Outcome is better in patients with idiopathic dilated cardiomyopathy (IDC) than in ischemic heart failure (HF), but morbidity and mortality are nevertheless presumed to be substantial. Most data on the prognosis in IDC stem from research performed before the widespread use of current evidence-based treatment, including implantable devices. We report outcome data from a cohort of patients with IDC treated according to current HF guidelines and compare our results with previous figures: 102 consecutive patients referred to our tertiary care hospital with idiopathic IDC and a left ventricular ejection fraction <40% were included in a prospective cohort study. After extensive baseline work-up, follow-up was performed after 6 and 13 months. Vital status and heart transplantation were recorded. Over the first year of follow-up, the patients were on optimal pharmacological treatment, and 24 patients received implantable devices. Left ventricular ejection fraction increased from 26 ± 10% to 41 ± 11%, peak oxygen consumption increased from 19.5 ± 7.1 to 23.4 ± 7.8 ml/kg/min, and functional class improved substantially (all p values <0.001). After a median follow-up of 3.6 years, 4 patients were dead, and heart transplantation had been performed in 9 patients. According to our literature search, survival in patients with IDC has improved substantially over the last decades. In conclusion, patients with IDC have a better outcome than previously reported when treated according to current guidelines. PMID:26233575

  20. Peripartum cardiomyopathy in Turkey: Experience of three tertiary centres.

    PubMed

    Akil, Mehmet Ata; Bilik, Mehmet Zihni; Yildiz, Abdulkadir; Acet, Halit; Ertas, Faruk; Simsek, Hakki; Polat, Nihat; Zengin, Halit; Akilli, Rabia; Agacayak, Elif; Kayan, Fethullah; Ozdemir, Mahmut; Alan, Sait

    2016-07-01

    We conducted this study to determine demographic details, and clinical presentations in patients with peripartum cardiomyopathy (PPCMP) of Turkish origin. The study population consisted of 58 patients with PPCMP treated at 3 major hospitals in Turkey, retrospectively. In this study, demographic details and initial echocardiographic data were recorded and long-term clinical status was evaluated. The mean age for the patient cohort was 31.47 ± 6.31 years. Thirty-eight patients (73.1%) were multigravida and seven patients had multifetal pregnancy (13.7%). The mean follow-up left ventricular (LV) ejection fraction increased from 31 ± 7 to 38 ± 19. A minority of patients were defined as improvers according to our pre-specified criteria. The average survival period after diagnosis of PPCMP was 20.66 ± 14.44 months. Initial values for LV end-diastolic diameter and urea were higher in the deceased patients compared with the surviving patients, respectively. Twenty-eight (48%) patients with PPCMP showed improvement in the follow-up period. Of the 58 PPCMP patients, 9 (15%) died during a mean follow-up of 32 ± 22 months. PMID:26789488

  1. Genetics and genetic testing of dilated cardiomyopathy: a new perspective.

    PubMed

    Mestroni, Luisa; Taylor, Matthew R G

    2013-01-01

    The completion of the Human Genome Project was a landmark achievement, but as clinical genetic testing becomes more mainstream, the extent of remarkable genetic variation is increasingly being appreciated. Newer DNA sequencing technology can now complete the sequencing of an entire human genome several times over in a matter of days, but this will undoubtedly add new challenges to the difficulty of distinguishing true pathogenic variants from benign variants in diagnostic genetics and in the research setting. The recent discovery of the role of titin gene (TTN) mutations in dilated cardiomyopathy (DCM) will make genetic testing in this disease more efficient. Furthermore, better understanding of genotype-phenotype associations will assist clinicians in identifying early stages of disease and providing more appropriate treatments. This high level of complexity requires an expert genetic team to offer counseling and to manage, deliver, and follow-up over time the results of genetic testing, which is particularly important for screening of family members potentially at risk. In DCM, genetic testing may be useful for the identification of non-carriers and asymptomatic carriers, as well as for prevention strategies, sport recommendations, and defibrillator implantation. It can also guide reproductive decision-making including utilization of pre-implantation genetic diagnostic strategies. PMID:23375013

  2. Deception in simplicity: hereditary phospholamban mutations in dilated cardiomyopathy.

    PubMed

    Young, Howard S; Ceholski, Delaine K; Trieber, Catharine A

    2015-02-01

    The sarcoplasmic reticulum (SR) calcium pump (SERCA) and its regulator phospholamban are required for cardiovascular function. Phospholamban alters the apparent calcium affinity of SERCA in a process that is modulated by phosphorylation via the β-adrenergic pathway. This regulatory axis allows for the dynamic control of SR calcium stores and cardiac contractility. Herein we focus on hereditary mutants of phospholamban that are associated with heart failure, such as Arg(9)-Cys, Arg(9)-Leu, Arg(9)-His, and Arg(14)-deletion. Each mutant has a distinct effect on PLN function and SR calcium homeostasis. Arg(9)-Cys and Arg(9)-Leu do not inhibit SERCA, Arg(14)-deletion is a partial inhibitor, and Arg(9)-His is comparable to wild-type. While the mutants have distinct functional effects on SERCA, they have in common that they cannot be phosphorylated by protein kinase A (PKA). Arg(9) and Arg(14) are required for PKA recognition and phosphorylation of PLN. Thus, mutations at these positions eliminate β-adrenergic control and dynamic cardiac contractility. Hydrophobic mutations of Arg(9) cause more complex changes in function, including loss of PLN function and dominant negative interaction with SERCA in heterozygous individuals. In addition, aberrant interaction with PKA may prevent phosphorylation of wild-type PLN and sequester PKA from other local subcellular targets. Herein we consider what is known about each mutant and how the synergistic changes in SR calcium homeostasis lead to impaired cardiac contractility and dilated cardiomyopathy. PMID:25563649

  3. [Transthyretin-related amyloidotic cardiomyopathy: looking for the etiological treatment].

    PubMed

    Longhi, Simone; Gagliardi, Christian; Milandri, Agnese; Manuzzi, Lisa; Rapezzi, Claudio

    2014-05-01

    Transthyretin (TTR)-related amyloidosis is a disease caused by the deposition of insoluble fibrils deriving from the misfolding of TTR, a protein mainly produced by the liver. In the hereditary form of the disease (ATTRm), protein misfolding is secondary to a mutation in the TTR gene. ATTRm can manifest with different phenotypes: mainly neurological, mainly cardiac, or mixed. In the senile form of the disease (wild-type TTR or SSA), the deposition of non-mutated TTR occurs and, clinically, cardiomyopathy is predominant. Cardiac amyloidosis is still an underdiagnosed disease and clinical heterogeneity makes the diagnosis challenging. Until recently, no specific pharmacological treatment was available, liver transplantation being the only therapeutic option aimed at slowing disease progression in ATTRm and treatment was based on symptom relief. This review focuses on the emerging pharmacological treatments for TTR-related amyloidosis targeting different steps of the amyloidogenic process (blocking hepatic TTR synthesis, TTR tetramer stabilization and promotion of TTR amyloid fibril clearance). PMID:25002169

  4. Cardiac Angiogenic Imbalance Leads to Peri-partum Cardiomyopathy

    PubMed Central

    Patten, Ian S.; Rana, Sarosh; Shahul, Sajid; Rowe, Glenn C; Jang, Cholsoon; Liu, Laura; Hacker, Michele R.; Rhee, Julie S.; Mitchell, John; Mahmood, Feroze; Hess, Phil; Farrell, Caitlin; Koulisis, Nicole; Khankin, Eliyahu V; Burke, Suzanne D.; Tudorache, Igor; Bauersachs, Johann; del Monte, Federica; Hilfiker-Kleiner, Denise; Karumanchi, S. Ananth; Arany, Zoltan

    2012-01-01

    Peri-partum cardiomyopathy (PPCM) is a frequently fatal disease that affects women near delivery, and occurs more frequently in women with pre-eclampsia and/or multiple gestation. The etiology of PPCM, or why it associates with pre-eclampsia, remains unknown. We show here that PPCM is associated with a systemic angiogenic imbalance, accentuated by pre-eclampsia. Mice that lack cardiac PGC-1α, a powerful regulator of angiogenesis, develop profound PPCM. Importantly, the PPCM is entirely rescued by pro-angiogenic therapies. In humans, the placenta in late gestation secretes VEGF inhibitors like soluble Flt1 (sFlt1), and this is accentuated by multiple gestation and pre-eclampsia. This anti-angiogenic environment is accompanied by sub-clinical cardiac dysfunction, the extent of which correlates with circulating levels of sFlt1. Exogenous sFlt1 alone caused diastolic dysfunction in wildtype mice, and profound systolic dysfunction in mice lacking cardiac PGC-1α. Finally, plasma samples from women with PPCM contained abnormally high levels of sFlt1. These data strongly suggest that PPCM is in large part a vascular disease, caused by excess anti-angiogenic signaling in the peri-partum period. The data also explain how late pregnancy poses a threat to cardiac homeostasis, and why pre-eclampsia and multiple gestation are important risk factors for the development of PPCM. PMID:22596155

  5. QT variability improves risk stratification in patients with dilated cardiomyopathy.

    PubMed

    Fischer, C; Seeck, A; Schroeder, R; Goernig, M; Schirdewan, A; Figulla, H R; Baumert, M; Voss, A

    2015-04-01

    Recently it could be demonstrated that systolic and diastolic blood pressure variability (BPV) as well as segmented Poincare plot analysis (SPPA) contribute to risk stratification in patients suffering from dilated cardiomyopathy (DCM). The aim of this study was to improve the risk stratification applying a multivariate technique including QT variability (QTV). We enrolled and significantly separated 56 low risk and 13 high risk DCM patients by nearly all applied BPV and QTV methods, but not with traditional heart rate variability analysis. The optimum set of two indices calculating the multivariate discriminate analysis (DA) included one BPV index calculated by symbolic dynamics method (DBP(Shannon)) and one index calculated from QTV (QTV(log)) achieving an area under the receiver operating characteristics curve (AUC) of 92%, sensitivity of 92.3% and specificity of 89.3%. Performing only electrocardiogram analysis, the optimum multivariate approach including indices from segmented Poincaré plot analysis and QTV still achieved a remarkable AUC of 88.3%. Increasing the number of indices for multivariate DA up to three, we achieved an AUC of 95.7%, sensitivity of 100% and specificity of 85.7% including one clinical, one BPV and one QTV index. Summarizing, we identified DCM patients with an increased risk of sudden cardiac death applying QTV analysis in a multivariate approach. PMID:25799313

  6. Titration of mitochondrial fusion rescues Mff-deficient cardiomyopathy

    PubMed Central

    Chen, Hsiuchen; Ren, Shuxun; Clish, Clary; Jain, Mohit; Mootha, Vamsi; McCaffery, J. Michael

    2015-01-01

    Defects in mitochondrial fusion or fission are associated with many pathologies, raising the hope that pharmacological manipulation of mitochondrial dynamics may have therapeutic benefit. This approach assumes that organ physiology can be restored by rebalancing mitochondrial dynamics, but this concept remains to be validated. We addressed this issue by analyzing mice deficient in Mff, a protein important for mitochondrial fission. Mff mutant mice die at 13 wk as a result of severe dilated cardiomyopathy leading to heart failure. Mutant tissue showed reduced mitochondrial density and respiratory chain activity along with increased mitophagy. Remarkably, concomitant deletion of the mitochondrial fusion gene Mfn1 completely rescued heart dysfunction, life span, and respiratory chain function. Our results show for the first time that retuning the balance of mitochondrial fusion and fission can restore tissue integrity and mitochondrial physiology at the whole-organ level. Examination of liver, testis, and cerebellum suggest, however, that the precise balance point of fusion and fission is cell type specific. PMID:26598616

  7. [Studies on the genetic susceptibility to dilated cardiomyopathy].

    PubMed

    Li, Y Y; Zhang, J N; Ma, W Z

    1993-01-01

    HLA-DQB1,-DRB1 genes of 27 Chinese patients with dilated cardiomyopathy (DCM), 7 high risk individuals in a DCM kindred and 17 normal control subjects were analysed with the use of restriction fragment length polymorphisms (RFLP) with full length DQB1 and DRB1 cDNA probes according to the standard and nomenclature of the Xth International Histocompatibility Workshop. The resulting restriction patterns allowed genotyping of HLA-DR and HLA-DQw. D-DQw8 frequency increased significantly in patients with DCM as compared with that of the controls (P < 0.05). D-DQw4 also increased in patients although no statistical significance was shown when Chi-square value was corrected with Yate's correction, whereas D-DQw5 overrepresented in controls (P < 0.05). Over half of the high risk individuals (4/7) in the familial DCM kindred carry D-DQw8 and D-DQw4. These results support the hypothesis that HLA class II genes were associated with an increased risk for DCM, HLA-DQB rather than -DRB may confer genetic susceptibility to DCM. PMID:8104770

  8. Echocardiographic assessment of takotsubo cardiomyopathy: beyond apical ballooning.

    PubMed

    Okura, Hiroyuki

    2016-03-01

    It has been >25 years since the first report of the takotsubo cardiomyopathy (TC). Although left ventriculography was originally used to depict its typical and impressive wall motion abnormality mimicking "takotsubo", or octopus pot, echocardiography plays a pivotal role in detecting not only its left ventricular (LV) wall motion abnormality, apical ballooning, but also various other findings. First of all, apical ballooning is not an essential finding for TC anymore. Mid-ventricular LV asynergy with or without apical involvement is a basic pattern of the LV wall motion abnormality. Distribution and time course of the asynergy may be best detected by echocardiography and echo provides useful information to differentiate between TC and acute coronary syndrome or acute myocarditis. In addition to the wall motion assessment, echo detects complications of TC such as systolic anterior motion of the mitral leaflet with or without LV outflow obstruction, mitral regurgitation, LV thrombus, right ventricular (RV) involvement. In particular, RV involvement is not an uncommon finding and is associated with worse short-term as well as long-term prognosis. Finally, coronary flow measurements and speckle tracking by echo may offer additional and useful information about pathophysiology and prognosis of TC. In conclusion, echocardiography is a standard imaging modality for detecting various dynamic findings beyond apical ballooning in patients with TC. PMID:26694809

  9. Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy.

    PubMed

    Bales, Nathan D; Johnson, Nicole M; Judge, Daniel P; Murphy, Anne M

    2016-06-01

    Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomere that can be found in both children and adults and is associated with many causative mutations. In children who are not the index case of HCM in their families, current recommendations call only for targeted genetic testing for familial mutations. However, clinical experience suggests that de novo mutations are possible, as are mutations inherited from apparently an unaffected parent. A chart review was conducted of all patients who received HCM genetic testing at Johns Hopkins from 2004 to 2013. In total, 239 patient charts were analyzed for personal and familial genetic findings. Eighty-one patients with sarcomere gene mutations were identified, of which 66 had a clinical diagnosis of HCM. Importantly, eight patients had >1 pathogenic or likely pathogenic mutation, including six patients who were diagnosed with HCM as children (18 or younger). In this analysis, when a sarcomere mutation is identified in a family, the likelihood of a child with HCM having >1 mutation is 25 % (6/24), compared to 4.8 % (2/42) for adults. The large number of children with multiple mutations suggests that broad panel rather than targeted genetic testing should be considered in HCM presenting during childhood even if the child is not the index case. PMID:26936621

  10. Coronary flow reserve during dobutamine stress in Takotsubo stress cardiomyopathy

    PubMed Central

    Collste, Olov; Tornvall, Per; Alam, Mahbubul; Frick, Mats

    2015-01-01

    Objectives Takotsubo stress cardiomyopathy (TSC) is an increasingly recognised and diagnosed disease, although the underlying pathophysiology is still unknown. Our aim was to investigate the effect of the catecholamine dobutamine on coronary flow reserve (CFR) measured non-invasively in patients with TSC and controls. Our hypothesis was that dobutamine stress can induce microvascular dysfunction in patients with a previous episode of TSC. Setting This is a case–control study and a substudy of the Stockholm Myocardial Infarction with Normal Coronaries (SMINC) study. Elective dobutamine investigations were performed focusing on non-invasive measurements of CFR. The investigations were performed more than 6 months after the acute event. Participants 22 patients with a previous episode of TSC and 22 sex-matched and age-matched controls were recruited from the SMINC study. All patients with TSC had a previous normal cardiovascular MR investigation. Results CFR at low-dose dobutamine was significantly lower in the TSC group compared with controls, 1.51 and 1.72, respectively (p=0.017). At high-dose dobutamine, CFR was 1.95 and 2.21 in the TSC group and controls, respectively (p=0.098). Conclusions We could not confirm that the catecholamine dobutamine induced microvascular dysfunction in patients with TSC. However, we found a small but significant difference in CFR at low-dose dobutamine, which implies that the role of microvascular function in TSC needs to be further explored. PMID:26185178

  11. The Clinical Status of Stem Cell Therapy for Ischemic Cardiomyopathy

    PubMed Central

    Wang, Xianyun; Zhang, Jun; Zhang, Fan; Li, Jing; Li, Yaqi; Tan, Zirui; Hu, Jie; Qi, Yixin; Yan, Baoyong

    2015-01-01

    Ischemic cardiomyopathy (ICM) is becoming a leading cause of morbidity and mortality in the whole world. Stem cell-based therapy is emerging as a promising option for treatment of ICM. Several stem cell types including cardiac-derived stem cells (CSCs), bone marrow-derived stem cells, mesenchymal stem cells (MSCs), skeletal myoblasts (SMs), and CD34+ and CD 133+ stem cells have been applied in clinical researches. The clinical effect produced by stem cell administration in ICM mainly depends on the transdifferentiation and paracrine effect. One important issue is that low survival and residential rate of transferred stem cells in the infracted myocardium blocks the effective advances in cardiac improvement. Many other factors associated with the efficacy of cell replacement therapy for ICM mainly including the route of delivery, the type and number of stem cell infusion, the timing of injection, patient's physical condition, the particular microenvironment onto which the cells are delivered, and clinical condition remain to be addressed. Here we provide an overview of the pros and cons of these transferred cells and discuss the current state of their therapeutic potential. We believe that stem cell translation will be an ideal option for patients following ischemic heart disease in the future. PMID:26101528

  12. Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

    PubMed

    Pigors, Manuela; Schwieger-Briel, Agnes; Cosgarea, Rodica; Diaconeasa, Adriana; Bruckner-Tuderman, Leena; Fleck, Thilo; Has, Cristina

    2015-03-01

    Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on 3 cases with yet unreported DSP mutations, c.7566_7567delAAinsC, p.R2522Sfs*39, c.7756C>T, p.R2586*, c.2131_2132delAG and c.1067C>A, p.T356K, that were associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations. In addition, we review and summarise the clinical features and DSP mutations of the patients described in the literature, which illustrates the complexity of this group of disorders and of their genotype-phenotype correlations, which cannot be easily predicted. Early diagnosis is crucial and cardiac examinations have to be performed on a regular basis. PMID:25227139

  13. Diastolic filling in a physical model of obstructive hypertrophic cardiomyopathy

    NASA Astrophysics Data System (ADS)

    Schovanec, Joseph; Samaee, Milad; Lai, Hong Kuan; Santhanakrishnan, Arvind

    2015-11-01

    Hypertrophic Cardiomyopathy (HCM) is an inherited heart disease that affects as much as one in 500 individuals, and is the most common cause of sudden death in young athletes. The myocardium becomes abnormally thick in HCM and deforms the internal geometry of the left ventricle (LV). Previous studies have shown that a vortex is formed during diastolic filling, and further that the dilated LV morphology seen in systolic heart failure results in altering the filling vortex from elliptical to spherical shape. We have also previously shown that increasing LV wall stiffness decreases the filling vortex circulation. However, alterations to intraventricular filling fluid dynamics due to an obstructive LV morphology and locally elevated wall stiffness (in the hypertrophied region) have not been previously examined from a mechanistic standpoint. We conducted an experimental study using an idealized HCM physical model and compared the intraventricular flow fields obtained from 2D PIV to a baseline LV physical model with lower wall stiffness and anatomical geometry. The obstruction in the HCM model leads to earlier breakdown of the filling vortex as compared to the anatomical LV. Intraventricular filling in both models under increased heart rates will be discussed.

  14. Circulating serum markers and QRS scar score in Chagas cardiomyopathy.

    PubMed

    Clark, Eva H; Marks, Morgan A; Gilman, Robert H; Fernandez, Antonio B; Crawford, Thomas C; Samuels, Aaron M; Hidron, Alicia I; Galdos-Cardenas, Gerson; Menacho-Mendez, Gilberto Silvio; Bozo-Gutierrez, Ricardo W; Martin, Diana L; Bern, Caryn

    2015-01-01

    Approximately 8 million people have Trypanosoma cruzi infection, and nearly 30% will manifest Chagas cardiomyopathy (CC). Identification of reliable early indicators of CC risk would enable prioritization of treatment to those with the highest probability of future disease. Serum markers and electrocardiogram (EKG) changes were measured in 68 T. cruzi-infected individuals in various stages of cardiac disease and 17 individuals without T. cruzi infection or cardiac disease. T. cruzi-infected individuals were assigned to stage A (normal EKG/chest x-ray [CXR]), B (abnormal EKG/normal CXR), or C (abnormal EKG/cardiac structural changes). Ten serum markers were measured using enzyme-linked immunosorbent assay (ELISA)/Luminex, and QRS scores were calculated. Higher concentrations of transforming growth factor-β1 (TGFβ1), and TGFβ2 were associated with stage B compared with stage A. Matrix Metalloproteinase 2 (MMP2), Tissue Inhibitors of MMP 1, QRS score, and Brain Natriuretic Protein rose progressively with increasing CC severity. Elevated levels of several markers of cardiac damage and inflammation are seen in early CC and warrant additional evaluation in longitudinal studies. PMID:25385865

  15. The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

    PubMed Central

    2011-01-01

    Background The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic disease associated with an improper hypertrophic response. Results The coding regions of KCNE1, KCNE2, KCNE3, KCNE4, and KCNE5 were examined, by direct DNA sequencing, in a cohort of 93 unrelated HCM probands and 188 blood donor controls. Fifteen genetic variants, four previously unknown, were identified in the HCM probands. Eight variants were non-synonymous and one was located in the 3'UTR-region of KCNE4. No disease-causing mutations were found and no significant difference in the frequency of genetic variants was found between HCM probands and controls. Two variants of likely functional significance were found in controls only. Conclusions Mutations in KCNE genes are not a common cause of HCM and polymorphisms in these genes do not seem to be associated with a propensity to develop arrhythmia PMID:21967835

  16. Prohibitin overexpression improves myocardial function in diabetic cardiomyopathy.

    PubMed

    Dong, Wen-Qian; Chao, Min; Lu, Qing-Hua; Chai, Wei-Li; Zhang, Wei; Chen, Xue-Ying; Liang, Er-Shun; Wang, Ling-Bo; Tian, Hong-Liang; Chen, Yu-Guo; Zhang, Ming-Xiang

    2016-01-01

    Prohibitin (PHB) is a highly conserved protein implicated in various cellular functions including proliferation, apoptosis, tumor suppression, transcription, and mitochondrial protein folding. However, its function in diabetic cardiomyopathy (DCM) is still unclear. In vivo, type 2 diabetic rat model was induced by using a high-fat diet and low-dose streptozotocin. Overexpression of the PHB protein in the model rats was achieved by injecting lentivirus carrying PHB cDNA via the jugular vein. Characteristics of type 2 DCM were evaluated by metabolic tests, echocardiography and histopathology. Rats with DCM showed severe insulin resistance, left ventricular dysfunction, fibrosis and apoptosis. PHB overexpression ameliorated the disease. Cardiofibroblasts (CFs) and H9c2 cardiomyoblasts were used in vitro to investigate the mechanism of PHB in altered function. In CFs treated with HG, PHB overexpression decreased expression of collagen, matrix metalloproteinase activity, and proliferation. In H9c2 cardiomyoblasts, PHB overexpression inhibited apoptosis induced by HG. Furthermore, the increased phosphorylation of extracellular signal-regulated kinase (ERK) 1/2 was significantly decreased and the inhibited phosphorylation of Akt was restored in DCM. Therefore, PHB may be a new therapeutic target for human DCM. PMID:26623724

  17. [Right ventricular dysplasia and dilated cardiomyopathy observed by radionuclide images].

    PubMed

    Takamura, I; Ando, J; Miyamoto, A; Kobayashi, T; Sakamoto, S; Yasuda, H

    1985-12-01

    Four cases of right ventricular dysplasia (RVD) and 28 cases of dilated cardiomyopathy (DCM) were studied. RVD was characterized clinically by syncope, sustained recurrent ventricular tachycardia with left bundle branch block patterns on the surface electrocardiogram, and right heart failure. Furthermore, moderate to severe dilatation of the right ventricle and depressed right ventricular function were apparent on radionuclide angiography. However, left ventricular dilatation and depressed left ventricular function were documented in DCM. Right ventricular volume was proportional to left ventricular volume in DCM, however, right ventricular volume was disproportionately greater in RVD. On the T1-201 perfusion image, left ventricular perfusion defects were delineated in 10 of 26 patients with DCM, and in one of four RVD patients. During two to eight year follow-up periods, six patients died suddenly five of whom had left ventricular perfusion defects. However, in 19 patients without left ventricular perfusion defects, only one sudden death was observed. A connecting link between sudden death and left ventricular perfusion defect is suggested. PMID:3841888

  18. Sepsis-Induced Takotsubo Cardiomyopathy Leading to Torsades de Pointes

    PubMed Central

    Kamran, Haroon; El-Sherif, Nabil

    2016-01-01

    Background. Takotsubo cardiomyopathy (TCM) is sudden and reversible myocardial dysfunction often attributable to physical or emotional triggers. Case Report. We describe a 51-year-old man presented to emergency department with sepsis from urinary tract infection (UTI). He was placed on cefepime for UTI and non-ST-elevation myocardial infarction protocol given elevated troponins with chest pain. Subsequently, patient was pulseless with torsades de pointes (TdP) and then converted to sinus rhythm with cardioversion. An echocardiogram revealed low ejection fraction with hypokinesis of the apical wall. Over 48 hours, the patient was extubated and stable on 3 L/min nasal cannula. He underwent a cardiac catheterization to evaluate coronary artery disease (CAD) and was found to have mild nonobstructive CAD with no further findings. Conclusion. TCM is a rare disorder presenting with symptoms similar to acute coronary syndrome. Though traditionally elicited by physical and emotional triggers leading to transient left ventricular dysfunction, our case suggests that it may also be triggered by a urinary tract infection and lead to severe QT prolongation and a malignant ventricular arrhythmia in TdP. PMID:27525128

  19. Distinguishing ventricular septal bulge versus hypertrophic cardiomyopathy in the elderly.

    PubMed

    Canepa, Marco; Pozios, Iraklis; Vianello, Pier Filippo; Ameri, Pietro; Brunelli, Claudio; Ferrucci, Luigi; Abraham, Theodore P

    2016-07-15

    The burgeoning evidence of patients diagnosed with sigmoidal hypertrophic cardiomyopathy (HCM) later in life has revived the quest for distinctive features that may help discriminate it from more benign forms of isolated septal hypertrophy often labelled ventricular septal bulge (VSB). HCM is diagnosed less frequently than VSB at older ages, with a reversed female predominance. Most patients diagnosed with HCM at older ages suffer from hypertension, similar to those with VSB. A positive family history of HCM and/or sudden cardiac death and the presence of exertional symptoms usually support HCM, though they are less likely in older patients with HCM, and poorly investigated in individuals with VSB. A more severe hypertrophy and the presence of left ventricular outflow obstruction are considered diagnostic of HCM, though stress echocardiography has not been consistently used in VSB. Mitral annulus calcification is very prevalent in both conditions, whereas a restrictive filling pattern is found in a minority of older patients with HCM. Genetic testing has low applicability in this differential diagnosis at the current time, given that a causative mutation is found in less than 10% of elderly patients with suspected HCM. Emerging imaging modalities that allow non-invasive detection of myocardial fibrosis and disarray may help, but have not been fully investigated. Nonetheless, there remains a considerable morphological overlap between the two conditions. Comprehensive studies, particularly imaging based, are warranted to offer a more evidence-based approach to elderly patients with focal septal thickening. PMID:27122487

  20. Echocardiographic diagnosis of the different phenotypes of hypertrophic cardiomyopathy.

    PubMed

    Parato, Vito Maurizio; Antoncecchi, Valeria; Sozzi, Fabiola; Marazia, Stefania; Zito, Annapaola; Maiello, Maria; Palmiero, Pasquale

    2016-01-01

    Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disorder of great genetic heterogeneity and has a prevalence of 0.1 - 0.2 % in the general population. Several hundred mutations in more than 27 genes, most of which encode sarcomeric structures, are associated with the HCM phenotype. Then, HCM is an extremely heterogeneous disease and several phenotypes have been described over the years. Originally only two phenotypes were considered, a more common, obstructive type (HOCM, 70 %) and a less common, non-obstructive type (HNCM, 30 %) (Maron BJ, et al. Am J Cardiol 48:418 -28, 1981). Wigle et al. (Circ 92:1680-92, 1995) considered three types of functional phenotypes: subaortic obstruction, midventricular obstruction and cavity obliteration. A leader american working group suggested that HCM should be defined genetically and not morphologically (Maron BJ, et al. Circ 113:1807-16, 2006). The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases recommended otherwise a morphological classification (Elliott P, et al. Eur Heart J 29:270-6, 2008). Echocardiography is still the principal tool for the diagnosis, prognosis and clinical management of HCM. It is well known that the echocardiographic picture may have a clinical and prognostic impact. For this reason, in this article, we summarize the state of the art regarding the echocardiographic pattern of the HCM phenotypes and its impact on clinical course and prognosis. PMID:27519172

  1. Celiac disease prevalence in Brazilian dilated cardiomyopathy patients.

    PubMed

    De Bem, Ricardo Schmit T; Da Ro Sa Utiyama, Shirley Ramos; Nisihara, Renato Mitsunori; Fortunato, Jerônimo Antônio; Tondo, Josué Augusto; Carmes, Eliane Ribeiro; Souza, Raquel Almada E; Pisani, Julio César; Amarante, Heda Maria Barska Dos Santos

    2006-05-01

    Celiac disease (CD) is a permanent condition of gluten intolerance and a number of autoimmune diseases have been associated with it. In the past few years, a relation between CD and dilated cardiomyopathy (CM) was described in Europe and United States. The aim of this study was to evaluate the prevalence of CD among south Brazilian precardiac transplant patients with advanced CM. A total of 74 patients on a list for heart transplantation were evaluated for the presence CD. The presence of anti-endomisial antibody (IgA-EmA) was determined by indirect immunofluorescence and for the anti-transglutaminase antibody (IgA anti-h-tTG) by ELISA. Serologically positive patients were submitted to upper endoscopy with intestinal biopsy. Two individuals (2.63%) were positive for IgA-EmA and 5 (6.75%) for IgA anti-h-tTG; 1 (1.35%) had both tests positive. Histologic confirmation of CD occurred only in the IgA-EmA positive patients. In conclusion, data from the present study allows recommend the screening for CD in patients with CM using IgA-EmA test as the method of choice. PMID:16758314

  2. Prevalence of Celiac Disease in Children with Idiopathic Dilated Cardiomyopathy

    PubMed Central

    Zahmatkeshan, Mozhgan; Fallahpoor, Mahsa; Amoozgar, Hamid

    2014-01-01

    Objective: This study aimed to evaluate the prevalence of celiac disease (CD) in the patients with dilated cardiomyopathy (DCM). Simultaneous presentation of these two diseases has been recently reported in some studies; however, few researches have been done on children. The sooner CD is diagnosed, the better the prognosis will be, especially in the patients with a chronic disease like DCM. Methods: In this study, 82 cases were screened for CD by measuring the level of anti-body against transglutaminase (anti tTG). These cases included 41 patients with DCM labeled according to clinical evaluation and echocardiography and 41 healthy children who had been referred for routine checkup. All the patients were between 1 and 18 years old. The expired patients and those with previous diagnosis of CD were excluded from the study. Besides, the patients with positive antibody results underwent intestinal biopsy to match the serology findings with histopathology of CD in the intestine. Finally, the data were analyzed by the SPSS statistical software (v. 16) and through t-test and Pearson correlation coefficient. Findings: According to the findings, 1/41 (2.5%) DCM cases had positive tTG antibody level and negative intestinal biopsy which is classified as potential CD in the children with DCM. In addition, 7/41 (17%) patients had borderline anti body level. A direct correlation was observed between age and anti tTG level. Conclusion: It is beneficial to assess CD in DCM children with unknown cause. PMID:25793066

  3. Prohibitin overexpression improves myocardial function in diabetic cardiomyopathy

    PubMed Central

    Dong, Wen-qian; Chao, Min; Lu, Qing-hua; Chai, Wei-li; Zhang, Wei; Chen, Xue-ying; Liang, Er-shun; Wang, Ling-bo; Tian, Hong-liang; Chen, Yu-guo; Zhang, Ming-xiang

    2016-01-01

    Prohibitin (PHB) is a highly conserved protein implicated in various cellular functions including proliferation, apoptosis, tumor suppression, transcription, and mitochondrial protein folding. However, its function in diabetic cardiomyopathy (DCM) is still unclear. In vivo, type 2 diabetic rat model was induced by using a high-fat diet and low-dose streptozotocin. Overexpression of the PHB protein in the model rats was achieved by injecting lentivirus carrying PHB cDNA via the jugular vein. Characteristics of type 2 DCM were evaluated by metabolic tests, echocardiography and histopathology. Rats with DCM showed severe insulin resistance, left ventricular dysfunction, fibrosis and apoptosis. PHB overexpression ameliorated the disease. Cardiofibroblasts (CFs) and H9c2 cardiomyoblasts were used in vitro to investigate the mechanism of PHB in altered function. In CFs treated with HG, PHB overexpression decreased expression of collagen, matrix metalloproteinase activity, and proliferation. In H9c2 cardiomyoblasts, PHB overexpression inhibited apoptosis induced by HG. Furthermore, the increased phosphorylation of extracellular signal–regulated kinase (ERK) 1/2 was significantly decreased and the inhibited phosphorylation of Akt was restored in DCM. Therefore, PHB may be a new therapeutic target for human DCM. PMID:26623724

  4. Clostridium Difficile Infection and Takotsubo Cardiomyopathy: Is There a Relation?

    PubMed Central

    Virk, Hafeez Ul Hassan; Inayat, Faisal

    2016-01-01

    Context: Takotsubo cardiomyopathy (TCM) mimics acute coronary syndrome and is accompanied by reversible left ventricular apical ballooning in the absence of angiographically significant coronary artery stenosis. It is a transient condition that typically precedes physical or emotional triggers. Case Report: We describe the case of a 65-year-old woman who presented to our institution with symptomatic Clostridium difficile infection. 24 hours after admission, the patient complained of severe, retrosternal chest pain. Electrocardiogram showed diffuse elevation of ST-segment in the chest leads; however, coronary angiography demonstrated normal coronary arteries. Therein, an echocardiography was performed, which revealed apical ballooning and hypercontractile base with global left ventricular hypokinesis. These features were consistent with TCM. The patient was managed conservatively. Repeat echocardiogram 2 weeks later showed resolution of heart failure. Conclusion: To our research, this is the first report of TCM caused by C. difficile infection. Clinicians involved in the care of patients with C. difficile infection must be aware of this complication and should consider TCM in those who develop atypical chest pain. PMID:27583241

  5. Improbable Outcomes: Infrequent or Extraordinary?

    ERIC Educational Resources Information Center

    Teigen, Karl Halvor; Juanchich, Marie; Riege, Anine H.

    2013-01-01

    Research on verbal probabilities has shown that "unlikely" or "improbable" events are believed to correspond to numerical probability values between 10% and 30%. However, building on a pragmatic approach of verbal probabilities and a new methodology, the present paper shows that unlikely outcomes are most often associated with outcomes that have a…

  6. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

    PubMed

    Schönberger, Jost; Wang, Libin; Shin, Jordan T; Kim, Sang Do; Depreux, Frederic F S; Zhu, Hao; Zon, Leonard; Pizard, Anne; Kim, Jae B; Macrae, Calum A; Mungall, Andy J; Seidman, J G; Seidman, Christine E

    2005-04-01

    We identified a human mutation that causes dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss (SNHL). Unlike previously described mutations causing dilated cardiomyopathy that affect structural proteins, this mutation deletes 4,846 bp of the human transcriptional coactivator gene EYA4. To elucidate the roles of eya4 in heart function, we studied zebrafish embryos injected with antisense morpholino oligonucleotides. Attenuated eya4 transcript levels produced morphologic and hemodynamic features of heart failure. To determine why previously described mutated EYA4 alleles cause SNHL without heart disease, we examined biochemical interactions of mutant Eya4 peptides. Eya4 peptides associated with SNHL, but not the shortened 193-amino acid peptide associated with dilated cardiomyopathy and SNHL, bound wild-type Eya4 and associated with Six proteins. These data define unrecognized and crucial roles for Eya4-Six-mediated transcriptional regulation in normal heart function. PMID:15735644

  7. Reversible cardiogenic shock due to catecholamine-induced cardiomyopathy: a variant of takotsubo?

    PubMed

    Law, Catherine; Khaliq, Asma; Guglin, Maya

    2013-11-01

    Catecholamine-induced cardiomyopathy, including takotsubo, neurogenic stunned myocardium, and pheochromocytoma-related cardiomyopathy, is a reversible and generally benign condition. We are reporting a case series of young women who had cardiogenic shock and pulmonary edema due to severe left ventricular systolic dysfunction, which completely recovered in the course of 2 to 3 weeks. Both patients had high catecholamine levels, due to pheochromocytoma in the first case and due to intravenous high-dose catecholamines in the second case. We suggest that screening for pheochromocytoma should be considered in patients who present with takotsubo cardiomyopathy without obvious cause. Most importantly, widely used intravenous catecholamines may cause severe transient left ventricular dysfunction, and consideration should be given to noncatecholamine vasopressors. PMID:23810075

  8. An adult with a sinus venosus atrial septal defect and dilated cardiomyopathy

    PubMed Central

    Oakley, Luke; Foley, Sean; Cox, Justin; Seidensticker, Daniel

    2014-01-01

    Dilated cardiomyopathy, heart failure and atrial septal defects are well-recognised entities in isolation, but are rarely seen together. Now that 90% of children with congenital heart disease survive into adulthood, such combinations of disease are increasingly seen in adult cardiology. While most young patients with dilated cardiomyopathy respond well to medical therapy, some do not, and require more invasive management. We describe a 32 year-old man with dilated cardiomyopathy and a sinus venosus-type atrial septal defect associated with a remarkable pulmonary to systemic flow ratio of 5:1. We propose that the atrial septal defect blunted his heart failure symptoms by serving as a ‘pop-off’ valve and limiting pulmonary congestion. The patient ultimately failed medical management and received a left ventricular assist device. The case is presented along with a discussion of this unique pathophysiology and a brief review of the literature in this rapidly evolving field. PMID:24855073

  9. Trypanosoma cruzi P21: a potential novel target for chagasic cardiomyopathy therapy

    PubMed Central

    Teixeira, Thaise Lara; Machado, Fabrício Castro; Alves da Silva, Aline; Teixeira, Samuel Cota; Borges, Bruna Cristina; dos Santos, Marlus Alves; Martins, Flávia Alves; Brígido, Paula Cristina; Rodrigues, Adele Aud; Notário, Ana Flávia Oliveira; Ferreira, Bruno Antônio; Servato, João Paulo Silva; Deconte, Simone Ramos; Lopes, Daiana Silva; Ávila, Veridiana Melo Rodrigues; Araújo, Fernanda de Assis; Tomiosso, Tatiana Carla; Silva, Marcelo José Barbosa; da Silva, Claudio Vieira

    2015-01-01

    Chagas disease, which is caused by the parasite Trypanosoma cruzi, is an important cause of cardiomyopathy in Latin America. It is estimated that 10%–30% of all infected individuals will acquire chronic chagasic cardiomyopathy (CCC). The etiology of CCC is multifactorial and involves parasite genotype, host genetic polymorphisms, immune response, signaling pathways and autoimmune progression. Herein we verified the impact of the recombinant form of P21 (rP21), a secreted T. cruzi protein involved in host cell invasion, on progression of inflammatory process in a polyester sponge-induced inflammation model. Results indicated that rP21 can recruit immune cells induce myeloperoxidase and IL-4 production and decrease blood vessels formation compared to controls in vitro and in vivo. In conclusion, T. cruzi P21 may be a potential target for the development of P21 antagonist compounds to treat chagasic cardiomyopathy. PMID:26574156

  10. Prevention of exercised induced cardiomyopathy following Pip-PMO treatment in dystrophic mdx mice.

    PubMed

    Betts, Corinne A; Saleh, Amer F; Carr, Carolyn A; Hammond, Suzan M; Coenen-Stass, Anna M L; Godfrey, Caroline; McClorey, Graham; Varela, Miguel A; Roberts, Thomas C; Clarke, Kieran; Gait, Michael J; Wood, Matthew J A

    2015-01-01

    Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder caused by mutations in the Dmd gene. In addition to skeletal muscle wasting, DMD patients develop cardiomyopathy, which significantly contributes to mortality. Antisense oligonucleotides (AOs) are a promising DMD therapy, restoring functional dystrophin protein by exon skipping. However, a major limitation with current AOs is the absence of dystrophin correction in heart. Pip peptide-AOs demonstrate high activity in cardiac muscle. To determine their therapeutic value, dystrophic mdx mice were subject to forced exercise to model the DMD cardiac phenotype. Repeated peptide-AO treatments resulted in high levels of cardiac dystrophin protein, which prevented the exercised induced progression of cardiomyopathy, normalising heart size as well as stabilising other cardiac parameters. Treated mice also exhibited significantly reduced cardiac fibrosis and improved sarcolemmal integrity. This work demonstrates that high levels of cardiac dystrophin restored by Pip peptide-AOs prevents further deterioration of cardiomyopathy and pathology following exercise in dystrophic DMD mice. PMID:25758104

  11. Transient reverse takotsubo cardiomyopathy following a spider bite in Greece: a case report.

    PubMed

    Alexakis, Lykourgos-Christos; Arapi, Sophia; Stefanou, Ioannis; Gargalianos, Panagiotis; Astriti, Myrto

    2015-02-01

    Black widow spider is endemic in the Mediterranean area and although envenomations are rare, may occasionally lead to death. We present a case of a 64-year-old female developing a rare variant of takotsubo, stress-induced, cardiomyopathy after a spider bite. This resulted in acute heart failure within 24  hours of the bite. With medical treatment and supportive care, the patient's clinical condition improved. Reverse takotsubo cardiomyopathy was diagnosed by echocardiography, which was transient. Clinical and echocardiographic findings have been completely resolved on follow-up 46 days later. Reverse takotsubo cardiomyopathy has not been yet described following a spider bite. Doctors in the emergency department of endemic countries should be familiar with this potential complication. PMID:25654384

  12. Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency.

    PubMed

    Romero, N B; Marsac, C; Paturneau-Jouas, M; Ogier, H; Magnier, S; Fardeau, M

    1993-01-01

    Two brothers, aged 27 and 20 months, born from consanguineous healthy parents, presented with cardiomyopathy, lactic acidosis and carnitine abnormalities in serum and muscle, without clinical evidence of muscle involvement. The histochemical reaction for cytochrome c oxidase (COX) activity was negative in all muscle fibres, although the holoenzyme and subunits were present at a normal level, as shown by immunocytochemistry. The COX activity was, respectively, 5 and 25% of control values, in muscle biopsies. Partial deficiency of complex IV was confirmed in fresh isolated muscle mitochondria from patient 2 and was associated with a defect of complex I. Patient 1 died at age 3 yr 6 months. Partial improvement of cardiomyopathy in patient 2 was obtained under carnitine therapy, but seizures occurred and CT scan and magnetic resonance imaging (MRI) revealed thalamic hypodensity. Thus, the disorder appears to be progressive despite the clinical stabilization of the cardiomyopathy. This further demonstrates the complexity and clinical heterogeneity of combined respiratory chain complex deficiencies. PMID:8392409

  13. [Wasp-sting-induced pheochromozytoma crisis with stress-related cardiomyopathy (Takotsubo)].

    PubMed

    Hausen, S; Treusch, A; Hermes, C; Boekstegers, P

    2014-11-01

    This article presents the case of a patient with sudden onset of heart failure caused by transient severe left ventricular dysfunction with the typical pattern of stress-induced cardiomyopathy (takotsubo cardiomyopathy) who had wasp sting a few hours before admission in the presence of a previously asymptomatic pheochromocytoma. There seems to be correlation between the wasp-venom-induced pheochomocytoma crisis and acute onset of heart failure. Once pheocromocytoma is diagnosed, medical therapy is preferable before surgical treatment. This case demonstrates that a previously asymptomatic pheochromocytoma can become clinically relevant by catecholamine-releasing wasp venom causing stress-related cardiomyopathy and that patient history is mandatory for evaluating the cause of sudden clinical outcome. PMID:25369903

  14. Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle.

    PubMed

    Juan-Mateu, J; Paradas, C; Olivé, M; Verdura, E; Rivas, E; González-Quereda, L; Rodríguez, M J; Baiget, M; Gallano, P

    2012-12-01

    X-linked dilated cardiomyopathy is a pure cardiac dystrophinopathy phenotype mainly caused by DMD mutations that present a specific transcription effect in cardiac tissue. We report a 26-year-old male who presented with severe dilated cardiomyopathy and high creatine kinase. The patient did not complain of skeletal muscle weakness. A muscle biopsy showed mild dystrophic changes and a low proportion of dystrophin-negative fibres. A molecular study identified a nonsense DMD mutation (p.Arg2098X) in somatic mosaicism. The ratio of mutant versus normal allele in blood and skeletal muscle suggests selective pressure against mutant muscle cells, a process known as genetic normalization. We hypothesize that this process may have mitigated skeletal muscle symptoms in this patient. This is the second report of a DMD somatic mosaic with evidence of genetic normalization in muscle. Somatic DMD mutations should be considered in patients presenting with idiopathic dilated cardiomyopathy. PMID:22092019

  15. Cardiorespiratory and cardiovascular interactions in cardiomyopathy patients using joint symbolic dynamic analysis.

    PubMed

    Giraldo, Beatriz F; Rodriguez, Javier; Caminal, Pere; Bayes-Genis, Antonio; Voss, Andreas

    2015-01-01

    Cardiovascular diseases are the first cause of death in developed countries. Using electrocardiographic (ECG), blood pressure (BP) and respiratory flow signals, we obtained parameters for classifying cardiomyopathy patients. 42 patients with ischemic (ICM) and dilated (DCM) cardiomyopathies were studied. The left ventricular ejection fraction (LVEF) was used to stratify patients with low risk (LR: LVEF>35%, 14 patients) and high risk (HR: LVEF≤ 35%, 28 patients) of heart attack. RR, SBP and TTot time series were extracted from the ECG, BP and respiratory flow signals, respectively. The time series were transformed to a binary space and then analyzed using Joint Symbolic Dynamic with a word length of three, characterizing them by the probability of occurrence of the words. Extracted parameters were then reduced using correlation and statistical analysis. Principal component analysis and support vector machines methods were applied to characterize the cardiorespiratory and cardiovascular interactions in ICM and DCM cardiomyopathies, obtaining an accuracy of 85.7%. PMID:26736261

  16. Prevention of exercised induced cardiomyopathy following Pip-PMO treatment in dystrophic mdx mice

    PubMed Central

    Betts, Corinne A.; Saleh, Amer F.; Carr, Carolyn A.; Hammond, Suzan M.; Coenen-Stass, Anna M. L.; Godfrey, Caroline; McClorey, Graham; Varela, Miguel A.; Roberts, Thomas C.; Clarke, Kieran; Gait, Michael J.; Wood, Matthew J. A.

    2015-01-01

    Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder caused by mutations in the Dmd gene. In addition to skeletal muscle wasting, DMD patients develop cardiomyopathy, which significantly contributes to mortality. Antisense oligonucleotides (AOs) are a promising DMD therapy, restoring functional dystrophin protein by exon skipping. However, a major limitation with current AOs is the absence of dystrophin correction in heart. Pip peptide-AOs demonstrate high activity in cardiac muscle. To determine their therapeutic value, dystrophic mdx mice were subject to forced exercise to model the DMD cardiac phenotype. Repeated peptide-AO treatments resulted in high levels of cardiac dystrophin protein, which prevented the exercised induced progression of cardiomyopathy, normalising heart size as well as stabilising other cardiac parameters. Treated mice also exhibited significantly reduced cardiac fibrosis and improved sarcolemmal integrity. This work demonstrates that high levels of cardiac dystrophin restored by Pip peptide-AOs prevents further deterioration of cardiomyopathy and pathology following exercise in dystrophic DMD mice. PMID:25758104

  17. miRNA regulation during cardiac development and remodeling in cardiomyopathy

    PubMed Central

    Chaitra, K.L.; Ulaganathan, Kayalvili; James, Anita; Ananthapur, Venkateshwari; Nallari, Pratibha

    2013-01-01

    miRNAs have been found to play a major role in cardiomyopathy, a heart muscle disorder characterized by cardiac dysfunction. Several miRNAs including those involved in heart development are found to be dysregulated in cardiomyopathy. These miRNAs act either directly or indirectly by controlling the genes involved in normal development and functioning of the heart. Indirectly it also targets modifier genes and genes involved in signaling pathways. In this review, miRNAs involved in heart development, including dysregulation of miRNA which regulate various genes, modifiers and notch signaling pathway genes leading to cardiomyopathy are discussed. A study of these miRNAs would give an insight into the mechanisms involved in the processes of heart development and disease. Apart from this, information gathered from these studies would also generate suitable therapeutic targets in the form of antagomirs which are chemically engineered oligonucleotides used for silencing miRNAs. PMID:27092038

  18. Subclinical Detection of Diabetic Cardiomyopathy with MicroRNAs: Challenges and Perspectives

    PubMed Central

    León, Luis E.; Rani, Sweta; Fernandez, Mauricio; Larico, Martín; Calligaris, Sebastián D.

    2016-01-01

    The prevalence of cardiac diabetic diseases has been increased around the world, being the most common cause of death and disability among diabetic patients. In particular, diabetic cardiomyopathy is characterized with a diastolic dysfunction and cardiac remodelling without signs of hypertension and coronary artery diseases. In an early stage, it is an asymptomatic disease; however, clinical studies demonstrate that diabetic myocardia are more vulnerable to injury derived by acute myocardial infarct and are the worst prognosis for rehabilitation. Currently, biochemical and imaging diagnostic methods are unable to detect subclinical manifestation of the disease (prior to diastolic dysfunction). In this review, we elaborately discuss the current scientific evidences to propose circulating microRNAs as promising biomarkers for early detection of diabetic cardiomyopathy and, then, to identify patients at high risk of diabetic cardiomyopathy development. Moreover, here we summarise the research strategies to identify miRNAs as potential biomarkers, present limitations, challenges, and future perspectives. PMID:26770988

  19. Takotsubo cardiomyopathy recurrence with left ventricular apical ballooning following isolated right ventricular involvement: A case report

    PubMed Central

    JOE, BYUNG-HYUN; HWANG, HUI-JEONG; PARK, CHANG-BUM; JIN, EUN-SUN; SOHN, IL-SUK; CHO, JIN-MAN; KIM, CHONG-JIN

    2013-01-01

    We report a case of Takotsubo cardiomyopathy, which involved the right ventricle at first presentation and demonstrated involvement of the left ventricle during recurrence. The patient was admitted to Kyung Hee University Hospital due to a left hip fracture, which was considered a result of physical stress. Complete recovery was confirmed by echocardiography prior to recurrence. The cause of the second event was surgery for the left hip fracture. Recurrence of Takotsubo cardiomyopathy at various cardiac locations provides evidence against the existing hypotheses that variants of Takotsubo cardiomyopathy are associated with anatomically different distributions of cardiac adrenergic receptors, the degree of stimulation by sympathetic activity and different susceptibilities to such sympathetic stimulation. PMID:23935757

  20. Takotsubo cardiomyopathy and acute infectious diseases: a mini-review of case reports.

    PubMed

    De Giorgi, Alfredo; Fabbian, Fabio; Pala, Marco; Parisi, Claudia; Misurati, Elisa; Molino, Christian; Boccafogli, Arrigo; Tiseo, Ruana; Gamberini, Susanna; Salmi, Raffaella; Portaluppi, Francesco; Manfredini, Roberto

    2015-03-01

    Takotsubo cardiomyopathy (TTC), also defined as "stress cardiomyopathy," is characterized by a systolic dysfunction localized in the apical and medial left ventricles. Takotsubo cardiomyopathy is more prevalent in females and it is usually related to an event triggered by physical or emotional stress. We systematically explored PubMed and Embase medical information source to identify case reports showing association between infection and TTC. For each kind of infection, we collected a set of data, including pathogen, site of infection, clinical outcome, patient age and sex, and author and year of publication. We found 26 articles dealing with 27 case reports (74% women). The mean age was 61.4 ± 13.7 years and bacterial infections were more frequent (n = 23, 85.2%). In 14 cases, there was a culture-based definition of the bacterial strain: gram+ in 8 cases (57.1%) and gram- in 6 cases (42.9%). Clinical outcome was always favorable. PMID:24576981

  1. Stress cardiomyopathy: Is it limited to Takotsubo syndrome? Problems of definition.

    PubMed

    Sarapultsev, Petr A; Sarapultsev, Alexey P

    2016-10-15

    In 2006, Takotsubo syndrome (TTC) was described as a distinct type of stress-induced cardiomyopathy (stress cardiomyopathy). However, when thinking about Takotsubo cardiomyopathy from the viewpoints of the AHA and ESC classifications, 2 possible problems may arise. The first potential problem is that a forecast of disease outcome is lacking in the ESC classification, whereas the AHA only states that 'outcome is favorable with appropriate medical therapy'. However, based on the literature data, one can make a general conclusion that occurrence of myocardial lesions in TTC (i.e., myocardial fibrosis and contraction-band necrosis) causes the same effects as in other diseases with similar levels of myocardial damage and should not be considered to have a lesser impact on mortality. To summarise, TTC can cause not only severe complications such as pulmonary oedema, cardiogenic shock, and dangerous ventricular arrhythmias, but also damage to the myocardium, which can result in the development of potentially fatal conditions even after the disappearance of LV apical ballooning. The second potential problem arises from the definition of TTC as a stress cardiomyopathy in the AHA classification. In fact, the main factors leading to TTC are stress and microvascular anginas, since, as has been already discussed, coronary spasm can cause myocardium stunning, resulting in persistent apical ballooning. Thus, based on this review, 3 distinct types of stress cardiomyopathies exist (variant angina, microvascular angina, and TTC), with poor prognosis. Adding these diseases to the classification of cardiomyopathies will facilitate diagnosis and preventive prolonged treatment, which should include intensive anti-stress therapy. PMID:27424315

  2. Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

    SciTech Connect

    Golbus, Jessica R.; Puckelwartz, Megan J.; Dellefave-Castillo, Lisa; Fahrenbach, John P.; Nelakuditi, Viswateja; Pesce, Lorenzo L.; Pytel, Peter; McNally, Elizabeth M.

    2014-09-01

    Background—Cardiomyopathy is highly heritable but genetically diverse. At present, genetic testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding regions of more than 50 genes. New genes are routinely added to panels to improve the diagnostic yield. With the anticipated $1000 genome, it is expected that genetic testing will shift towards comprehensive genome sequencing accompanied by targeted gene analysis. Therefore, we assessed the reliability of whole genome sequencing and targeted analysis to identify cardiomyopathy variants in 11 subjects with cardiomyopathy. Methods and Results—Whole genome sequencing with an average of 37× coverage was combined with targeted analysis focused on 204 genes linked to cardiomyopathy. Genetic variants were scored using multiple prediction algorithms combined with frequency data from public databases. This pipeline yielded 1-14 potentially pathogenic variants per individual. Variants were further analyzed using clinical criteria and/or segregation analysis. Three of three previously identified primary mutations were detected by this analysis. In six subjects for whom the primary mutation was previously unknown, we identified mutations that segregated with disease, had clinical correlates, and/or had additional pathological correlation to provide evidence for causality. For two subjects with previously known primary mutations, we identified additional variants that may act as modifiers of disease severity. In total, we identified the likely pathological mutation in 9 of 11 (82%) subjects. We conclude that these pilot data demonstrate that ~30-40× coverage whole genome sequencing combined with targeted analysis is feasible and sensitive to identify rare variants in cardiomyopathy-associated genes.

  3. Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

    DOE PAGESBeta

    Golbus, Jessica R.; Puckelwartz, Megan J.; Dellefave-Castillo, Lisa; Fahrenbach, John P.; Nelakuditi, Viswateja; Pesce, Lorenzo L.; Pytel, Peter; McNally, Elizabeth M.

    2014-09-01

    Background—Cardiomyopathy is highly heritable but genetically diverse. At present, genetic testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding regions of more than 50 genes. New genes are routinely added to panels to improve the diagnostic yield. With the anticipated $1000 genome, it is expected that genetic testing will shift towards comprehensive genome sequencing accompanied by targeted gene analysis. Therefore, we assessed the reliability of whole genome sequencing and targeted analysis to identify cardiomyopathy variants in 11 subjects with cardiomyopathy. Methods and Results—Whole genome sequencing with an average of 37× coverage was combined with targeted analysis focused onmore » 204 genes linked to cardiomyopathy. Genetic variants were scored using multiple prediction algorithms combined with frequency data from public databases. This pipeline yielded 1-14 potentially pathogenic variants per individual. Variants were further analyzed using clinical criteria and/or segregation analysis. Three of three previously identified primary mutations were detected by this analysis. In six subjects for whom the primary mutation was previously unknown, we identified mutations that segregated with disease, had clinical correlates, and/or had additional pathological correlation to provide evidence for causality. For two subjects with previously known primary mutations, we identified additional variants that may act as modifiers of disease severity. In total, we identified the likely pathological mutation in 9 of 11 (82%) subjects. We conclude that these pilot data demonstrate that ~30-40× coverage whole genome sequencing combined with targeted analysis is feasible and sensitive to identify rare variants in cardiomyopathy-associated genes.« less

  4. Non-invasive evaluation of arrhythmic risk in dilated cardiomyopathy: From imaging to electrocardiographic measures

    PubMed Central

    Iacoviello, Massimo; Monitillo, Francesco

    2014-01-01

    Malignant ventricular arrhythmias are a major adverse event and worsen the prognosis of patients affected by ischemic and non-ischemic dilated cardiomyopathy. The main parameter currently used to stratify arrhythmic risk and guide decision making towards the implantation of a cardioverter defibrillator is the evaluation of the left ventricular ejection fraction. However, this strategy is characterized by several limitations and consequently additional parameters have been suggested in order to improve arrhythmic risk stratification. The aim of this review is to critically revise the prognostic significance of non-invasive diagnostic tools in order to better stratify the arrhythmic risk prognosis of dilated cardiomyopathy patients. PMID:25068017

  5. Cardiomyopathy responsive to gluten withdrawal in a patient with coeliac disease.

    PubMed

    McGrath, Samuel; Thomas, Angharad; Gorard, David Angelo

    2016-01-01

    A 57-year-old man with iron deficiency anaemia developed general malaise, exertional dyspnoea and features of cardiac failure out of proportion to his anaemia (haemoglobin 120 g/L). Investigations showed a severely dilated left ventricle with an ejection fraction of 15%, due to dilated cardiomyopathy. He was treated with high-dose diuretics, ACE inhibitors and β-blocker therapy. Subsequent investigation into his iron deficiency anaemia revealed a new diagnosis of coeliac disease. After starting a gluten-free diet, his cardiac function improved markedly, with ejection fraction reaching 70%, allowing his cardiac medications to be withdrawn. This case suggests a link between coeliac disease and cardiomyopathy. PMID:26976850

  6. Usefulness of sugammadex in a patient with Becker muscular dystrophy and dilated cardiomyopathy.

    PubMed

    Shimauchi, Tsukasa; Yamaura, Ken; Sugibe, Sayaka; Hoka, Sumio

    2014-09-01

    A 54-year-old patient with Becker muscular dystrophy and dilated cardiomyopathy underwent laparoscopic cholecystectomy under total intravenous anesthesia. Muscle relaxation was induced by rocuronium (0.4 mg/kg body weight) under train-of-four (TOF) ratio monitoring. The TOF ratio was 0 at intubation, and 0.2 at the end of surgery. Residual muscle relaxant activity was successfully reversed by sugammadex (2 mg/kg body weight) without any hemodynamic adverse effects (TOF ratio 1.0 at extubation). The clinical and hemodynamic findings suggest that sugammadex can be safely used in patients with Becker muscular dystrophy and dilated cardiomyopathy. PMID:25199695

  7. Malalignment of the sarcomeric filaments in hypertrophic cardiomyopathy with cardiac myosin heavy chain gene mutation

    PubMed Central

    Muraishi, A; Kai, H; Adachi, K; Nishi, H; Imaizumi, T

    1999-01-01

    OBJECTIVE—To investigate changes in the alignment of the sarcomeric filaments in hypertrophic cardiomyopathy and the effects of cardiac β myosin heavy chain (β-MHC) mutation on the sarcomeric ultrastructure.
DESIGN—A retrospective analysis.
PATIENTS—Endomyocardial biopsy samples were examined by transmission electron microscopy in seven patients with hypertrophic cardiomyopathy and β-MHC mutation, six with hypertrophic cardiomyopathy but without the mutation, and five controls (with chest pain syndromes).
MAIN OUTCOME MEASURE—Alignment of the sarcomeric filaments and the distance between neighbouring thick myosin filaments.
RESULTS—In controls, cross sections of the sarcomere at the A band showed a highly organised orthohexagonal array with 6 thin actin filaments surrounding one thick myosin filament, whereas in hypertrophic cardiomyopathy the alignment of the sarcomeric filaments was sparse and disrupted. In hypertrophic cardiomyopathy with a mutation, the distance between neighbouring thick myosin filaments was greater than in controls (mean (SD) 45.3 (4.7) v 38.5 (3.5) nm, p < 0.05), and the variance of the distance was greater than in controls (8.0 (0.7) v 4.8 (1.0) nm, p < 0.001) or in patients with hypertrophic cardiomyopathy without a mutation (6.7 (0.6) nm, p < 0.05). In the latter, the variance of the distance was also greater than in the controls (p < 0.01). A significant correlation was found between the grade of the myocyte hypertrophy and the variance of the distance (r = 0.654; p < 0.01).
CONCLUSIONS—The alignment of the sarcomeric filaments is disrupted in hypertrophic cardiomyopathy, particularly when there is β-MHC mutation.


Keywords: hypertrophic cardiomyopathy; β myosin heavy chain; myosin filament; sarcomere PMID:10525522

  8. Sinus surgery complicated by ventricular fibrillation in a young patient: Inverted (reverse) Takotsubo cardiomyopathy.

    PubMed

    Demir, Gültekin Günhan; Babur Güler, Gamze; Güler, Ekrem; Güneş, Hacı Murat; Kızılırmak, Filiz

    2016-07-01

    Takotsubo cardiomyopathy (TTC), also known as left ventricular apical ballooning syndrome or stress cardiomyopathy, is characterized by transient left ventricular systolic dysfunction and the absence of obstructive lesion in the epicardial coronary arteries. The most common presentation is acute substernal chest pain, although occasionally dyspnea and syncope, and rarely shock with ST-segment elevation and elevated cardiac biomarkers have been observed. Inverted (reverse) TTC is a rare pattern characterized hypokinesis of the basal and midventricular segments. Presently described was case of a 27-year-old woman with ventricular fibrillation following endoscopic nasal sinus surgery. PMID:27439928

  9. Fatty old hearts: role of cardiac lipotoxicity in age-related cardiomyopathy

    PubMed Central

    Drosatos, Konstantinos

    2016-01-01

    Age-related cardiomyopathy accounts for a significant part of heart failure cases. Imbalance of the energetic equilibrium of the heart along with mitochondrial dysfunction and impaired β-adrenergic receptor signaling contributes in the aggravation of cardiac function in the elderly. In this review article, studies that correlate cardiac aging with lipotoxicity are summarized. The involvement of inhibition of peroxisome proliferator-activated receptor-α, β-adrenergic receptor desensitization, and mitochondrial dysfunction as underlying mechanisms for the lipid-driven age-related cardiomyopathy are presented with the aim to indicate potential therapeutic targets for cardiac aging. PMID:27558317

  10. Peripartum Cardiomyopathy: Current State of Knowledge, New Developments and Future Directions

    PubMed Central

    Biteker, Murat; Kayataş, Kadir; Duman, Dursun; Turkmen, Muhsin; Bozkurt, Biykem

    2014-01-01

    Peripartum cardiomyopathy (PPCM) is a form of idiopathic dilated cardiomyopathy affecting women in late pregnancy or early puerperium. Although initially described in the late 1800s, it has only recently been recognized as a distinct cardiac condition. The reported incidence and prognosis varies according to geography. The clinical course varies between complete recovery to rapid progression to chronic heart failure, heart transplantation or death. In spite of significant improvements in understanding the pathophysiology and management of the PPCM many features of this unique disease are poorly understood, including incidence, etiology, epidemiology, pathophysiology, predictors of prognosis and optimal therapy. The present article revisits these concepts and recent advances in PPCM. PMID:24646160

  11. Noncompaction Cardiomyopathy: Case Presentation with Cardiac Magnetic Resonance Imaging Findings and Literature Review

    PubMed Central

    Saeedan, Mnahi Bin; Fathala, Ahmed L.; Mohammed, Tan-Lucien H.

    2015-01-01

    Left ventricular noncompaction cardiomyopathy is a very rare condition, yet believed to be often overlooked. It is thought to be caused by the developmental arrest in embryogenesis and characterized by an increase in the noncompacted, trabeculated myocardium adjacent to compacted myocardium in the left ventricular. The clinical presentations of this type of cardiomyopathy are of variable severity. Echocardiography used to be the diagnostic modality, but recent reports suggest that cardiac magnetic resonance imaging has higher sensitivity and specificity by showing a ratio of the noncompacted myocardium to compacted myocardium of >2.3. PMID:26900424

  12. Fatty old hearts: role of cardiac lipotoxicity in age-related cardiomyopathy.

    PubMed

    Drosatos, Konstantinos

    2016-01-01

    Age-related cardiomyopathy accounts for a significant part of heart failure cases. Imbalance of the energetic equilibrium of the heart along with mitochondrial dysfunction and impaired β-adrenergic receptor signaling contributes in the aggravation of cardiac function in the elderly. In this review article, studies that correlate cardiac aging with lipotoxicity are summarized. The involvement of inhibition of peroxisome proliferator-activated receptor-α, β-adrenergic receptor desensitization, and mitochondrial dysfunction as underlying mechanisms for the lipid-driven age-related cardiomyopathy are presented with the aim to indicate potential therapeutic targets for cardiac aging. PMID:27558317

  13. Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

    PubMed

    Vignoli, Marina; Scaini, Maria Chiara; Ghiorzo, Paola; Sestini, Roberta; Bruno, William; Menin, Chiara; Gensini, Francesca; Piazzini, Mauro; Testori, Alessandro; Manoukian, Siranoush; Orlando, Claudio; D'Andrea, Emma; Bianchi-Scarrà, Giovanna; Genuardi, Maurizio

    2008-12-01

    Predisposition to familial cutaneous malignant melanoma has been associated with mutations in the CDKN2A and CDK4 genes. However, only a small subgroup of melanoma pedigrees harbour CDKN2A or CDK4 germline mutations. It is possible that other types of CDKN2A rearrangements, not detectable by routine PCR-based approaches, are involved in a fraction of melanoma cases negative for point sequence changes. In order to gain insights on the possible role of CDKN2A large deletions or duplications in melanoma susceptibility in the Italian population, we screened a series of 124 cutaneous malignant melanoma families referred to five national medical/cancer genetics centres. All probands were negative for point mutations in CDKN2A and CDK4. All samples were tested by MLPA (multiplex ligation-dependent probe amplification), and the results were confirmed by real-time quantitative PCR in a subset of 53 cases. No genomic rearrangements were detected in this series, one of the largest so far investigated. These data suggest that large deletions/duplications in the CDKN2A locus are infrequently involved in the development of familial melanoma in the Italian population. Based on these results, routine search for these rearrangements in CDKN2A- and CDK4-mutation negative melanoma families is not warranted, although it would be reasonable to pursue it in selected cases with very strong family history and/or showing linkage to 9p21. PMID:19011513

  14. Epigenetics and obesity cardiomyopathy: From pathophysiology to prevention and management.

    PubMed

    Zhang, Yingmei; Ren, Jun

    2016-05-01

    Uncorrected obesity has been associated with cardiac hypertrophy and contractile dysfunction. Several mechanisms for this cardiomyopathy have been identified, including oxidative stress, autophagy, adrenergic and renin-angiotensin aldosterone overflow. Another process that may regulate effects of obesity is epigenetics, which refers to the heritable alterations in gene expression or cellular phenotype that are not encoded on the DNA sequence. Advances in epigenome profiling have greatly improved the understanding of the epigenome in obesity, where environmental exposures during early life result in an increased health risk later on in life. Several mechanisms, including histone modification, DNA methylation and non-coding RNAs, have been reported in obesity and can cause transcriptional suppression or activation, depending on the location within the gene, contributing to obesity-induced complications. Through epigenetic modifications, the fetus may be prone to detrimental insults, leading to cardiac sequelae later in life. Important links between epigenetics and obesity include nutrition, exercise, adiposity, inflammation, insulin sensitivity and hepatic steatosis. Genome-wide studies have identified altered DNA methylation patterns in pancreatic islets, skeletal muscle and adipose tissues from obese subjects compared with non-obese controls. In addition, aging and intrauterine environment are associated with differential DNA methylation. Given the intense research on the molecular mechanisms of the etiology of obesity and its complications, this review will provide insights into the current understanding of epigenetics and pharmacological and non-pharmacological (such as exercise) interventions targeting epigenetics as they relate to treatment of obesity and its complications. Particular focus will be on DNA methylation, histone modification and non-coding RNAs. PMID:27013344

  15. Emerging Paradigms in Cardiomyopathies Associated with Cancer Therapies

    PubMed Central

    Ky, Bonnie; Vejpongsa, Pimprapa; Yeh, Edward T.H.; Force, Thomas; Moslehi, Javid

    2014-01-01

    The cardiovascular care of cancer patients (“Cardio-Oncology”) has emerged as a new discipline in clinical medicine given recent advances in cancer therapy, and is driven by the cardiovascular complications that occur as a direct result of cancer therapy. Traditional therapies, such as anthracyclines and radiation, have been recognized for years to have cardiovascular complications. Less expected were the cardiovascular effects of “targeted” cancer therapies, which were initially felt to be specific to cancer cells and would spare any adverse effects on the heart. Cancers are typically driven by mutations, translocations, and/or over-expression of protein kinases. The majority of these mutated kinases are tyrosine kinases, though serine/threonine kinases also play key roles in some malignancies. Several agents were developed to target these kinases, but many more are in development. Major successes have been largely restricted to agents targeting Her2 (mutated or over-expressed in breast cancer), BCR-ABL (CML and some cases of ALL),and c-Kit (gastrointestinal stromal tumor).Other agents targeting more complex malignancies such as advanced solid tumors have had successes, but have not extended life to the degree seen with CML. Years before the first targeted therapeutic, Judah Folkman correctly proposed that to address solid tumors, one had to target the inherent neo-angiogenesis. Unfortunately, emerging evidence confirms that angiogenesis inhibitors cause cardiac complications, including hypertension, thrombosis, and heart failure. And therein lies the Catch 22. On the other hand, cardiomyopathies that arise unexpectedly from such targeted therapies can provide key insights into the normal function of the heart. PMID:23989717

  16. Abnormal Mitral Valve Dimensions in Pediatric Patients with Hypertrophic Cardiomyopathy.

    PubMed

    Schantz, Daryl; Benson, Lee; Windram, Jonathan; Wong, Derek; Dragulescu, Andreea; Yoo, Shi-Joon; Mertens, Luc; Friedberg, Mark; Al Nafisi, Bahiyah; Grosse-Wortmann, Lars

    2016-04-01

    The hearts of patients with hypertrophic cardiomyopathy (HCM) show structural abnormalities other than isolated wall thickening. Recently, adult HCM patients have been found to have longer mitral valve leaflets than control subjects. The aim of the current study was to assess whether children and adolescents with HCM have similar measureable differences in mitral valve leaflet dimensions when compared to a healthy control group. Clinical and echocardiographic data from 46 children with myocardial hypertrophy and a phenotype and/or genotype consistent with sarcomeric HCM were reviewed. Cardiac magnetic resonance imaging studies were evaluated. The anterior and posterior mitral valve leaflet lengths and myocardial structure were compared to 20 healthy controls. The anterior mitral valve was longer in the HCM group than in the control group (28.4 ± 4.9 vs. 25.2 ± 3.6 mm in control patients, p = 0.013) as was the posterior mitral valve leaflet (16.3 ± 3.0 vs. 13.1 ± 2.3 mm for controls <0.0001). There was no correlation between the resting left ventricular outflow tract gradient and anterior mitral valve leaflet length, nor was the anterior mitral valve leaflet longer in those with systolic anterior motion of the mitral valve compared to those without (28.9 ± 6.1 vs. 28.1 ± 4.5 mm, p = 0.61). Children and adolescents with HCM have abnormally long mitral valve leaflets when compared with healthy control subjects. These abnormalities do not appear to result in, or be due to, obstruction to left ventricular outflow. The mechanism of this mitral valve elongation is not clear but appears to be independent of hemodynamic disturbances. PMID:26961572

  17. Occurrence of Clinically Diagnosed Hypertrophic Cardiomyopathy in the United States.

    PubMed

    Maron, Martin S; Hellawell, Jennifer L; Lucove, Jaime C; Farzaneh-Far, Ramin; Olivotto, Iacopo

    2016-05-15

    Hypertrophic cardiomyopathy (HC) is the most common genetic heart disease and an important cause of sudden death and heart failure symptoms. The current prevalence for HC (1:500) is based on echocardiographic population studies in which a substantial proportion of affected subjects have not come to clinical recognition. Therefore, we sought to define the subset of patients with HC who are diagnosed in the US. A proprietary integrated claims database including medical condition International Classification of Diseases, Ninth Revision diagnostic codes for over 160 million individual patients in the US was interrogated for 2013 to identify the prevalence of clinically recognized HC. Patients with ≥1 claim for any of the HC International Classification of Diseases, Ninth Revision diagnosis codes from January to December 2013 were identified. The combined occurrence rate of HC was stratified by age and gender and multiplied by the 2013 United States population in the same age/gender categories to produce the final projected prevalence. The analysis was performed on 169,089,614 patients, of whom 59,009 unique patients were identified with ≥1 claim for HC. The projected estimated occurrence of diagnosed HC in the US in 2013 was 1:3,195 for a total of 98,958 subjects. Average age at HC diagnosis was in the fifth decade of life, with 43% of the cohort composed of women. In conclusion, leveraging a claims-based data analytic technique, about 100,000 patients are diagnosed clinically with HC in the US, an occurrence which is less than the prevalence reported in systematic population studies based on echocardiographic diagnosis. This observation supports the view that many patients with HC are undiagnosed throughout life and enhances our understanding of the burden of this genetic heart disease on the health care system. PMID:27006153

  18. Arrhythmogenic Right Ventricular Cardiomyopathy: Considerations from in Silico Experiments

    PubMed Central

    Wilders, Ronald

    2012-01-01

    Objective: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with remodeling of gap junctions and also, although less well-defined, down-regulation of the fast sodium current. The gap junction remodeling and down-regulation of sodium current have been proposed as contributors to arrhythmogenesis in ARVC by slowing conduction. The objective of the present study was to assess the amount of conduction slowing due to the observed gap junction remodeling and down-regulation of sodium current. Methods: The effects of (changes in) gap junctional conductance, cell dimensions, and sodium current on both longitudinal and transversal conduction velocity were tested by simulating action potential propagation in linear strands of human ventricular cells that were either arranged end-to-end or side-by-side. Results: A 50% reduction in gap junction content, as commonly observed in ARVC, gives rise to an 11% decrease in longitudinal conduction velocity and a 29% decrease in transverse conduction velocity. A down-regulation of the sodium current through a 50% decrease in peak current density as well as a −15 mV shift in steady-state inactivation, as observed in an experimental model of ARVC, decreases conduction velocity in either direction by 32%. In combination, the gap junction remodeling and down-regulation of sodium current result in a 40% decrease in longitudinal conduction velocity and a 52% decrease in transverse conduction velocity. Conclusion: The gap junction remodeling and down-regulation of sodium current do result in conduction slowing, but heterogeneity of gap junction remodeling, in combination with down-regulation of sodium current, rather than gap junction remodeling per se may be a critical factor in arrhythmogenesis in ARVC. PMID:22754532

  19. New Molecular Insights of Insulin in Diabetic Cardiomyopathy.

    PubMed

    Westermeier, Francisco; Riquelme, Jaime A; Pavez, Mario; Garrido, Valeria; Díaz, Ariel; Verdejo, Hugo E; Castro, Pablo F; García, Lorena; Lavandero, Sergio

    2016-01-01

    Type 2 diabetes mellitus (T2DM) is a highly prevalent disease worldwide. Cardiovascular disorders generated as a consequence of T2DM are a major cause of death related to this disease. Diabetic cardiomyopathy (DCM) is characterized by the morphological, functional and metabolic changes in the heart produced as a complication of T2DM. This cardiac disorder is characterized by constant high blood glucose and lipids levels which eventually generate oxidative stress, defective calcium handling, altered mitochondrial function, inflammation and fibrosis. In this context, insulin is of paramount importance for cardiac contractility, growth and metabolism and therefore, an impaired insulin signaling plays a critical role in the DCM development. However, the exact pathophysiological mechanisms leading to DCM are still a matter of study. Despite the numerous questions raised in the study of DCM, there have also been important findings, such as the role of micro-RNAs (miRNAs), which can not only have the potential of being important biomarkers, but also therapeutic targets. Furthermore, exosomes also arise as an interesting variable to consider, since they represent an important inter-cellular communication mechanism and therefore, they may explain many aspects of the pathophysiology of DCM and their study may lead to the development of therapeutic agents capable of improving insulin signaling. In addition, adenosine and adenosine receptors (ARs) may also play an important role in DCM. Moreover, the possible cross-talk between insulin and ARs may provide new strategies to reverse its defective signaling in the diabetic heart. This review focuses on DCM, the role of insulin in this pathology and the discussion of new molecular insights which may help to understand its underlying mechanisms and generate possible new therapeutic strategies. PMID:27148064

  20. New Molecular Insights of Insulin in Diabetic Cardiomyopathy

    PubMed Central

    Westermeier, Francisco; Riquelme, Jaime A.; Pavez, Mario; Garrido, Valeria; Díaz, Ariel; Verdejo, Hugo E.; Castro, Pablo F.; García, Lorena; Lavandero, Sergio

    2016-01-01

    Type 2 diabetes mellitus (T2DM) is a highly prevalent disease worldwide. Cardiovascular disorders generated as a consequence of T2DM are a major cause of death related to this disease. Diabetic cardiomyopathy (DCM) is characterized by the morphological, functional and metabolic changes in the heart produced as a complication of T2DM. This cardiac disorder is characterized by constant high blood glucose and lipids levels which eventually generate oxidative stress, defective calcium handling, altered mitochondrial function, inflammation and fibrosis. In this context, insulin is of paramount importance for cardiac contractility, growth and metabolism and therefore, an impaired insulin signaling plays a critical role in the DCM development. However, the exact pathophysiological mechanisms leading to DCM are still a matter of study. Despite the numerous questions raised in the study of DCM, there have also been important findings, such as the role of micro-RNAs (miRNAs), which can not only have the potential of being important biomarkers, but also therapeutic targets. Furthermore, exosomes also arise as an interesting variable to consider, since they represent an important inter-cellular communication mechanism and therefore, they may explain many aspects of the pathophysiology of DCM and their study may lead to the development of therapeutic agents capable of improving insulin signaling. In addition, adenosine and adenosine receptors (ARs) may also play an important role in DCM. Moreover, the possible cross-talk between insulin and ARs may provide new strategies to reverse its defective signaling in the diabetic heart. This review focuses on DCM, the role of insulin in this pathology and the discussion of new molecular insights which may help to understand its underlying mechanisms and generate possible new therapeutic strategies. PMID:27148064

  1. Rare variant mutations identified in pediatric patients with dilated cardiomyopathy

    PubMed Central

    Rampersaud, Evadnie; Siegfried, Jill D; Norton, Nadine; Li, Duanxiang; Martin, Eden; Hershberger, Ray E

    2010-01-01

    Dilated cardiomyopathy (DCM) in infants and children can be partially explained by genetic cause but the catalogue of known genes is limited. We reviewed our database of 41 cases diagnosed with DCM before 18 years of age who underwent detailed clinical and genetic evaluation, and summarize here the evidence for mutations causing DCM in these cases from 15 genes (PSEN1, PSEN2, CSRP3, LBD3, MYH7, SCN5A, TCAP, TNNT2, LMNA, MYBPC3, MYH6, TNNC1, TNNI3, TPM1, and RBM20). Thirty-five of the 41 pediatric cases had relatives with adult-onset DCM. More males (66%) were found among children diagnosed after 1 year of age with DCM. Nineteen mutations in 9 genes were identified among 15 out of 41 patients; 3 patients (diagnosed at ages 2 weeks, 9 and 13 years) had multiple mutations. Of the 19 mutations identified in 12 families, mutations in TPM1 (32%) and TNNT2 (21%) were the most commonly found. Of the 6 patients diagnosed before 1 year of age, 3 had mutations in TPM1 (including a set of identical twins), 1 in TNNT2, 1 in MYH7, and 1 with multiple mutations (MYH7 and TNNC1). Most DCM was accompanied by advanced heart failure and need for cardiac transplantation. We conclude that in some cases pediatric DCM has a genetic basis, which is complicated by allelic and locus heterogeneity as seen in adult-onset DCM. We suggest that future prospective comprehensive family-based genetic studies of pediatric DCM are indicated to further define mutation frequencies in known genes and to discover novel genetic cause. PMID:21483645

  2. Psychometric properties of the Kansas City Cardiomyopathy Questionnaire (KCCQ)

    PubMed Central

    Creber, Ruth Masterson; Polomano, Rosemary; Farrar, John; Riegel, Barbara

    2015-01-01

    Background The Kansas City Cardiomyopathy Questionnaire (KCCQ) is a well-established instrument used to evaluate the health status of heart failure (HF) patients. There has been a lack of clarity about the best way to conceptualize the KCCQ. The purpose of this investigation of the KCCQ was to: (1) explore the factor structure with an exploratory factor analyses; (2) perform reliability and validity testing to determine the best factor solution for item groupings; and (3) determine the most meaningful components of health status captured by the KCCQ. Methods and Results A secondary analysis of data from 280 adults with stage-C HF enrolled from three US northeastern sites was conducted to test the KCCQ subscale structure. Criterion-related validity for the Self-efficacy subscale was tested with the Dutch Heart Failure Knowledge Scale and the Self-care of Heart Failure Index Self-care Confidence Scale. Overall, internal consistency reliability (Cronbach’s alpha) for the KCCQ and subscales was 0.92, social interference (seven items, 0.90), physical limitation (four items, 0.84), symptoms (eight items, 0.86), independent care (two items, 0.80), and self-efficacy (two items, 0.63). Two items failed to correspond to a previously identified factor so the independent care subscale was added. Items intending to measure quality of life were loaded in the social interference subscale. Conclusions We recommend eliminating the quality of life subscale and including those items in the social interference subscale, and eliminating the self-efficacy items and re-evaluating the items related to independent care. PMID:22457379

  3. Clinical significance of giant negative T waves in hypertrophic cardiomyopathy

    SciTech Connect

    Alfonso, F.; Nihoyannopoulos, P.; Stewart, J.; Dickie, S.; Lemery, R.; McKenna, W.J. )

    1990-04-01

    To assess the clinical significance of giant negative T waves in patients with hypertrophic cardiomyopathy from Western nations, clinical, echocardiographic, radionuclide and 48 h electrocardiographic (ECG) monitoring findings were compared in 27 patients with and 56 patients without giant negative T waves. Patients with giant negative T waves were older at diagnosis (43 +/- 15 versus 32 +/- 14 years, p less than 0.005), had greater ECG voltage (SV1 + RV5 = 57 +/- 20 versus 37 +/- 18 mm, p less than 0.001) and had a more vertical frontal plane axis (38.4 +/- 34 versus 13.4 +/- 45 degrees, p less than 0.05). Left ventricular wall thickness on two-dimensional echocardiography was similar at the mitral valve level (mean 16.5 +/- 4 versus 16.6 +/- 3 cm), but was greater at the papillary muscle level (mean 20.7 +/- 5 versus 17.6 +/- 3 mm, p less than 0.01) and apex (mean 23.3 +/- 5 versus 17.3 +/- 3 mm, p less than 0.001) in patients with giant negative T waves. Fewer patients with giant negative T waves had asymmetric septal hypertrophy (12 (44%) of 27 versus 36 (64%) of 56, p = 0.08) or systolic anterior motion of the mitral valve (4 (14%) of 27 versus 25 (45%) of 56, p less than 0.01), whereas left ventricular end-diastolic (44.1 +/- 6 versus 39.6 +/- 5 mm, p = 0.01) and end-systolic dimensions (27.8 +/- 4 versus 24 +/- 6 mm, p less than 0.05) were greater in this group. Nonsustained ventricular tachycardia was seen on ECG monitoring in 21% of patients in both groups.

  4. Pediatric idiopathic dilated cardiomyopathy: A single center experience

    PubMed Central

    Azhar, Ahmad S.

    2013-01-01

    Context: Idiopathic dilated cardiomyopathy (IDCM) is a severe illness with high mortality in the pediatric population. AIMS: To highlight our experience about clinical course and outcome of IDCM. Settings and Design: Patients’ files were reviewed retrospectively for diagnosed cases of IDCM in the pediatric cardiology unit of King Abdul Aziz University Hospital, Jeddah, Saudi Arabia, from Jan 2003 to Jun 2011. Materials and Methods: Data about full history, clinical examination and investigations were recorded and grouped according to outcome as alive and well (group 1), alive and symptomatic (group 2) and worsened or dead (group 3). Statistical Analysis: Data was subjected to descriptive analysis. Chi-square and Student's paired t-test techniques were used where appropriate. Spearman rank correlation and survival analysis was done. Results: Eighty three patients were included with presenting age median (range), i.e.,14 (2 months–12 years) with females predominance 53 (63.9%). On presentation; cardiomegaly was noted in 72 (86.7%) with increased lung vascularity in 45 (54%). Sixty-one (74%) patients had ST segment and T-wave changes on electrocardiogram, while the same number had left ventricular hypertrophy, and 15 (18%) had arrhythmias. Echocardiography records on presentation and at last follow-up showed significant difference in several areas. Group 1 had 40 (48.2%), Group 2 had 23 (27.7%) while 20 (24.1%) were in Group 3 including nine cases who died. Survival rate over three years was 78%. Older the age, worse was the outcome (Spearman's rho = 0.3, P = 0.04). Conclusion: Majority of subjects were presented during first year of life; the three year survival rate was 78%. Favorable outcome was correlated with younger age at presentation. PMID:23633851

  5. Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

    PubMed

    Rampersaud, Evadnie; Siegfried, Jill D; Norton, Nadine; Li, Duanxiang; Martin, Eden; Hershberger, Ray E

    2011-01-01

    Dilated cardiomyopathy (DCM) in infants and children can be partially explained by genetic cause but the catalogue of known genes is limited. We reviewed our database of 41 cases diagnosed with DCM before 18 years of age who underwent detailed clinical and genetic evaluation, and summarize here the evidence for mutations causing DCM in these cases from 15 genes (PSEN1, PSEN2, CSRP3, LBD3, MYH7, SCN5A, TCAP, TNNT2, LMNA, MYBPC3, MYH6, TNNC1, TNNI3, TPM1, and RBM20). Thirty-five of the 41 pediatric cases had relatives with adult-onset DCM. More males (66%) were found among children diagnosed after 1 year of age with DCM. Nineteen mutations in 9 genes were identified among 15 out of 41 patients; 3 patients (diagnosed at ages 2 weeks, 9 and 13 years) had multiple mutations. Of the 19 mutations identified in 12 families, mutations in TPM1 (32%) and TNNT2 (21%) were the most commonly found. Of the 6 patients diagnosed before 1 year of age, 3 had mutations in TPM1 (including a set of identical twins), 1 in TNNT2, 1 in MYH7, and 1 with multiple mutations (MYH7 and TNNC1). Most DCM was accompanied by advanced heart failure and need for cardiac transplantation. We conclude that in some cases pediatric DCM has a genetic basis, which is complicated by allelic and locus heterogeneity as seen in adult-onset DCM. We suggest that future prospective comprehensive family-based genetic studies of pediatric DCM are indicated to further define mutation frequencies in known genes and to discover novel genetic cause. PMID:21483645

  6. Obstruction is unimportant in the pathophysiology of hypertrophic cardiomyopathy.

    PubMed Central

    Criley, J. M.; Siegel, R. J.

    1986-01-01

    There has been a longstanding controversy about the significance of intracavitary pressure gradients in hypertrophic cardiomyopathy (HCM). It has been generally assumed that the gradient is the result of an 'obstruction' that impedes left ventricular outflow and which can be relieved by operative intervention. In the first decade after the discovery of HCM (1957-66), the site of 'obstruction' was thought to be a muscular sphincter or contraction ring in the submitral region of the left ventricle, and operations designed to emulate pyloromyectomy (for hypertrophic pyloric stenosis) were developed. Following a challenge to the existence of the 'contraction ring' and an alternative non-obstructive explanation of the pressure gradient, the site of 'obstruction' was translocated to a point of apposition between the anterior mitral leaflet and the interventricular septum, a result of systolic anterior motion (SAM) of the mitral valve. Despite the translocation of the site and mechanism of 'obstruction', the operation for 'relief of obstruction' has not changed significantly. The newer site of 'obstruction' has been challenged on the grounds that the ventricle is not demonstrably impeded in its emptying; when a gradient is provoked, the ventricle empties more rapidly and more completely than it does without a gradient. In addition to a non-obstructive explanation of the gradient, other phenomena thought to be indicative of 'obstruction' can be explained by rapid and complete emptying of the ventricle (cavitary obliteration). Since the morbidity and mortality of symptomatic HCM patients without pressure gradients may exceed that of patients with pressure gradients, it is suggested that 'obstruction' may be unimportant in the pathophysiology of HCM and attention should be focused on abnormal diastolic function and life threatening arrhythmias. Images Figure 4 Figure 8b PMID:3534838

  7. Arrhythmogenic right ventricular cardiomyopathy mimics: role of cardiovascular magnetic resonance

    PubMed Central

    2013-01-01

    Background Cardiovascular magnetic resonance (CMR) is commonly used in patients with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) based on ECG, echocardiogram and Holter. However, various diseases may present with clinical characteristics resembling ARVC causing diagnostic dilemmas. The aim of this study was to explore the role of CMR in the differential diagnosis of patients with suspected ARVC. Methods 657 CMR referrals suspicious for ARVC in a single tertiary referral centre were analysed. Standardized CMR imaging protocols for ARVC were performed. Potential ARVC mimics were grouped into: 1) displacement of the heart, 2) right ventricular overload, and 3) non ARVC-like cardiac scarring. For each, a judgment of clinical impact was made. Results Twenty patients (3.0%) fulfilled imaging ARVC criteria. Thirty (4.6%) had a potential ARVC mimic, of which 25 (3.8%) were considered clinically important: cardiac displacement (n=17), RV overload (n=7) and non-ARVC like myocardial scarring (n=4). One patient had two mimics; one patient had dual pathology with important mimic and ARVC. RV overload and scarring conditions were always thought clinically important whilst the importance of cardiac displacement depended on the degree of displacement from severe (partial absence of pericardium) to epiphenomenon (minor kyphoscoliosis). Conclusions Some patients referred for CMR with suspected ARVC fulfil ARVC imaging criteria (3%) but more have otherwise unrecognised diseases (4.6%) mimicking potentially ARVC. Clinical assessment should reflect this, emphasising the assessment and/or exclusion of potential mimics in parallel with the detection of ARVC major and minor criteria. PMID:23398958

  8. Predictors of Disease Progression in Pediatric Dilated Cardiomyopathy

    PubMed Central

    Molina, Kimberly M.; Shrader, Peter; Colan, Steven D.; Mital, Seema; Margossian, Renee; Sleeper, Lynn A.; Shirali, Girish; Barker, Piers; Canter, Charles E.; Altmann, Karen; Radojewski, Elizabeth; Selamet Tierney, Elif Seda; Rychik, Jack; Tani, Lloyd Y.

    2014-01-01

    Background Despite medical advances, children with dilated cardiomyopathy (DCM) remain at high risk of death or need for cardiac transplantation. We sought to identify predictors of disease progression in pediatric DCM. Methods and Results The Pediatric Heart Network evaluated chronic DCM patients with prospective echocardiographic and clinical data collection during an 18-month follow-up. Inclusion criteria were age <22 years and DCM disease duration >2 months. Patients requiring intravenous inotropic/mechanical support or listed status 1A/1B for transplant were excluded. Disease progression was defined as an increase in transplant listing status, hospitalization for heart failure, intravenous inotropes, mechanical support, or death. Predictors of disease progression were identified using Cox proportional hazards modeling and classification and regression tree analysis. Of the 127 patients, 28 (22%) had disease progression during the 18-month follow-up. Multivariable analysis identified older age at diagnosis (hazard ratio=1.14 per year; P<0.001), larger left ventricular (LV) end-diastolic M-mode dimension z-score (hazard ratio=1.49; P<0.001), and lower septal peak systolic tissue Doppler velocity z-score (hazard ratio=0.81; P=0.01) as independent predictors of disease progression. Classification and regression tree analysis stratified patients at risk of disease progression with 89% sensitivity and 94% specificity based on LV end-diastolic M-mode dimension z-score ≥7.7, LV ejection fraction <39%, LV inflow propagation velocity (color M-mode) z-score <-0.28, and age at diagnosis ≥8.5 months. Conclusions In children with chronic stable DCM, a combination of diagnosis after late infancy and echocardiographic parameters of larger LV size and systolic and diastolic function predicted disease progression. PMID:24132734

  9. [Regional right ventricular hypertrophy in hypertrophic cardiomyopathy and hypertension].

    PubMed

    Seo, T; Yokota, Y; Kumaki, T; Takarada, A; Kubo, M; Kaku, K; Toh, S; Fukuzaki, H

    1985-06-01

    The mode of right ventricular hypertrophy was assessed by two-dimensional echocardiography (2DE) for 24 patients with hypertrophic cardiomyopathy (HCM), and the results were compared with those of 51 patients with hypertension (HT). The patients with HT were categorized in four groups depending on the thickness of the interventricular septum (IVST) and left ventricular posterior wall (PWT): HT-ASH with both left ventricular hypertrophy (LVH) (IVST greater than or equal to 13 mm) and asymmetric septal hypertrophy (ASH) (IVST/PWT greater than or equal to 1.3), severe HT with LVH and without ASH, and mild HT without LVH and ASH. Anterior wall thickness (AWT), posterior wall thickness (PWT), and diaphragmatic wall thickness (DWT) of the right ventricle were obtained from 2DE in the parasternal long-axis view, the short-axis view and subxiphoid view, respectively. These were recorded on video tape, and the measurements were made on the stop frames. Right ventricular hypertrophy (RVH) was estimated by the maximal right ventricular wall thickness (max RVWT), and the ratio of the maximal and minimal thickness (max RVWT/min RVWT) was calculated to evaluate asymmetrical hypertrophy (AH) of the right ventricle (RV). The incidence of RVH (Max RVWT greater than or equal to 5 mm) and asymmetrical hypertrophy (AH) (max RVWT/min RVWT greater than or equal to 1.3) of the RV in HCM, HT-ASH and mild HT were 67% and 41%, 57% and 45%, and 15% and 11%, respectively. The incidence of RVH with AH was more frequent in patients with HCM as well as HT with ASH than in patients with HT without ASH.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:4093619

  10. Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

    PubMed Central

    Politano, Luisa; Melacini, Paola; Calore, Chiara; Polo, Angela; Vianello, Sara; Sorarù, Gianni; Semplicini, Claudio; Pantic, Boris; Taglia, Antonella; Picillo, Ester; Magri, Francesca; Gorni, Ksenija; Messina, Sonia; Vita, Gian Luca; Vita, Giuseppe; Comi, Giacomo P.; Ermani, Mario; Calvo, Vincenzo; Angelini, Corrado; Hoffman, Eric P.; Pegoraro, Elena

    2015-01-01

    Objective Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset. Methods A multicentric cohort of 178 DMD patients was genotyped by TaqMan assays. We performed a time-to-event analysis of DCM onset, with age as time variable, and finding of left ventricular ejection fraction < 50% and/or end diastolic volume > 70 mL/m2 as event (confirmed by a previous normal exam < 12 months prior); DCM-free patients were censored at the age of last echocardiographic follow-up. Results Patients were followed up to an average age of 15.9 ± 6.7 years. Seventy-one/178 patients developed DCM, and median age at onset was 20.0 years. Glucocorticoid corticosteroid treatment (n = 88 untreated; n = 75 treated; n = 15 unknown) did not have a significant independent effect on DCM onset. Cardiological medications were not administered before DCM onset in this population. We observed trends towards a protective effect of the dominant G allele at SPP1 rs28357094 and recessive T allele at LTBP4 rs10880, which was statistically significant in steroid-treated patients for LTBP4 rs10880 (< 50% T/T patients developing DCM during follow-up [n = 13]; median DCM onset 17.6 years for C/C-C/T, log-rank p = 0.027). Conclusions We report a putative protective effect of DMD genetic modifiers on the development of cardiac complications, that might aid in risk stratification if confirmed in independent cohorts. PMID:26513582

  11. Utilizing ECG-Based Heartbeat Classification for Hypertrophic Cardiomyopathy Identification.

    PubMed

    Rahman, Quazi Abidur; Tereshchenko, Larisa G; Kongkatong, Matthew; Abraham, Theodore; Abraham, M Roselle; Shatkay, Hagit

    2015-07-01

    Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease where the heart muscle is partially thickened and blood flow is (potentially fatally) obstructed. A test based on electrocardiograms (ECG) that record the heart electrical activity can help in early detection of HCM patients. This paper presents a cardiovascular-patient classifier we developed to identify HCM patients using standard 10-second, 12-lead ECG signals. Patients are classified as having HCM if the majority of their recorded heartbeats are recognized as characteristic of HCM. Thus, the classifier's underlying task is to recognize individual heartbeats segmented from 12-lead ECG signals as HCM beats, where heartbeats from non-HCM cardiovascular patients are used as controls. We extracted 504 morphological and temporal features—both commonly used and newly-developed ones—from ECG signals for heartbeat classification. To assess classification performance, we trained and tested a random forest classifier and a support vector machine classifier using 5-fold cross validation. We also compared the performance of these two classifiers to that obtained by a logistic regression classifier, and the first two methods performed better than logistic regression. The patient-classification precision of random forests and of support vector machine classifiers is close to 0.85. Recall (sensitivity) and specificity are approximately 0.90. We also conducted feature selection experiments by gradually removing the least informative features; the results show that a relatively small subset of 264 highly informative features can achieve performance measures comparable to those achieved by using the complete set of features. PMID:25915962

  12. Atrial Remodeling and Atrial Tachyarrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy.

    PubMed

    Wu, Lingmin; Guo, Jinrui; Zheng, Lihui; Chen, Gang; Ding, Ligang; Qiao, Yu; Sun, Wei; Yao, Yan; Zhang, Shu

    2016-09-01

    Less is known about atrial remodeling and atrial tachyarrhythmias (ATa) in arrhythmogenic right ventricular cardiomyopathy (ARVC); this cross-sectional study aimed to determine the prevalence, characterization, and predictors of atrial remodeling and ATa in a large series of patients with ARVC. From February 2004 to September 2014, 294 consecutive patients who met the task force criteria for ARVC were enrolled. The prevalence, characterization, and predictors of atrial dilation and ATa were investigated. Right atrium (RA) dilation was identified in 160 patients (54.4%) and left atrium dilation in 66 patients (22.4%). Both RA and left atrium dilation were found in 44 patients (15.0%). Twenty-five patients (8.5%) had atrial fibrillation (AF), whereas 19 patients (6.5%) had atrial flutter (AFL). Of which, 7 patients (2.4%) had both AF and AFL. Multivariate analysis showed that AFL (odds ratio [OR] 10.309; 95% confidence interval [CI] 2.770 to 38.462; p <0.001), hypertension (OR 9.174; 95% CI 2.364 to 35.714; p = 0.001), and RA dilation (OR 6.993; 95% CI 1.623 to 30.303; p = 0.009) were associated with increased risk for AF. AF (OR 10.526; 95% CI 2.786 to 40.000; p = 0.001) increased the risk of AFL. In conclusion, atrial remodeling and ATa were common in patients with ARVC. PMID:27378141

  13. Altered patterns of cardiac intercellular junction distribution in hypertrophic cardiomyopathy.

    PubMed Central

    Sepp, R.; Severs, N. J.; Gourdie, R. G.

    1996-01-01

    OBJECTIVE: To examine the distribution pattern of intercellular junctions (the mechanically coupling desmosomes and the electrically coupling gap junctions) in hypertrophic cardiomyopathy (HCM) hearts showing myofibre disarray. DESIGN: Samples from six necropsied hearts were studied, representing the interventricular septum and the free walls of the left and right ventricles. Immunohistochemical labelling of desmoplakin was used as a marker for desmosomes, and of connexin43 as a marker for gap junctions, in single and double stainings. The slides were examined by confocal laser scanning microscopy. RESULTS: Marked disorganisation of intercalated discs was observed in areas featuring myofibre disarray. Besides overall derangement, localised abnormalities in desmosome organisation were evident, which included: (1) the formation of abnormally enlarged megadiscs; (2) the presence of intersecting disc structures; and (3) aberrant side to side desmosomal connections. Gap junctional abnormalities included: (1) random distribution of gap junctions over the surface of myocytes, rather than localisation to intercalated discs; (2) abundant side to side gap junction connections between adjacent myocytes; and (3) formation of abnormally shaped gap junctions. Circles of myocytes continuously interconnected by gap junctions were also observed. Regions of the diseased hearts lacking myofibre disarray, and control hearts of normal patients and patients with other cardiac diseases, did not show these alterations. CONCLUSIONS: The disorganisation of the intercellular junctions associated with myofibre disarray in HCM may play an important role in the pathophysiological manifestations of the disease. The remodelling of gap junction distribution may underlie the formation of an arrhythmogenic substrate, thereby contributing to the generation and maintenance of cardiac arrhythmias associated with HCM. Images PMID:8944586

  14. Adrenergic Inhibition with Dexmedetomidine to Treat Stress Cardiomyopathy during Alcohol Withdrawal: A Case Report and Literature Review

    PubMed Central

    Harris, Zachary M.; Alonso, Alvaro; Kennedy, Thomas P.

    2016-01-01

    Stress (Takotsubo) cardiomyopathy is a form of reversible left ventricular dysfunction with a heightened risk of ventricular arrhythmia thought to be caused by high circulating catecholamines. We report a case of stress cardiomyopathy that developed during severe alcohol withdrawal successfully treated with dexmedetomidine. The case involves a 53-year-old man with a significant history of alcohol abuse who presented to a teaching hospital with new-onset seizures. His symptoms of acute alcohol withdrawal were initially treated with benzodiazepines, but the patient later developed hypotension, and stress cardiomyopathy was suspected based on ECG and echocardiographic findings. Adjunctive treatment with the alpha-2-adrenergic agonist, dexmedetomidine, was initiated to curtail excessive sympathetic outflow of the withdrawal syndrome, thereby targeting the presumed pathophysiology of the cardiomyopathy. Significant clinical improvement was observed within one day of initiation of dexmedetomidine. These findings are consistent with other reports suggesting that sympathetic dysregulation during alcohol withdrawal produces ideal pathobiology for stress cardiomyopathy and leads to ventricular arrhythmogenicity. Stress cardiomyopathy should be recognized as a complication of alcohol withdrawal that significantly increases cardiac-related mortality. By helping to correct autonomic dysregulation of the withdrawal syndrome, dexmedetomidine may be useful in the treatment of stress-induced cardiomyopathy. PMID:27006838

  15. Treatment of advanced heart failure in a young man with familial cardiomyopathy.

    PubMed Central

    Massin, E K

    1998-01-01

    We report the case of a young man with familial cardiomyopathy whose symptoms became difficult to control as his myopathy worsened. He had persistent cardiac arrhythmias and was intolerant of angiotensin-converting enzyme inhibitor therapy. His case illustrates the difficulties that can be encountered in treating patients with advanced heart failure. PMID:9885106

  16. Association between ACR1 gene product expression and cardiomyopathy in children

    PubMed Central

    Wang, Yan; Niu, Ling; He, Xiuhua; Xue, Ying; Ling, Nan; Wang, Zhenzhou; An, Xinjiang

    2016-01-01

    Cardiomyopathy is a heterogeneous heart disease. Although morbidity of pediatric cardiomyopathy has been on the increase, effective treatments have not been identified. The aim of the study was to examine the expression of ACR1 gene products in association with cardiomyopathy in children. In total, 73 patients and 76 healthy subjects were enrolled in the study, from April, 2013 to April, 2015. The relative expression of ACR1 mRNA and protein were quantified in all cases, using reverse transcription-quantitative polymerase chain reaction (RT-qPCR), ELISA and western blot analysis. Immunohistochemistry was used to stain cardiac tissue samples to reveal differences between the patients and the control group. The results showed that the level of ACR1 mRNA by RT-qPCR was not different between the two study groups. However, ELISA and western blot analysis showed a significant difference, with patients expressing lower levels of ACR1. Additionally, immunohistochemistry revealed the levels of ACR1 were reduced in patients as the time course of disease increased. Thus, there is an association between the inhibition of ACR1 expression and the development of the disease. These findings are useful in the elucidation of the pathogenesis of pediatric cardiomyopathy, a severe disease with few effective treatment options available. PMID:27588091

  17. Cardiomyopathy and Cerebrovascular Accident Associated with Anabolic-Androgenic Steroid Use.

    ERIC Educational Resources Information Center

    Mochizuki, Ronald M.; Richter, Kenneth J.

    1988-01-01

    A case report is presented of a 32 year-old male bodybuilder who sustained an ischemic cerebrovascular accident and showed signs of cardiomyopathy. Although no cause was found, the man had been taking steroids for 16 years. Harmful effects of steroid use are discussed. (IAH)

  18. Arrhythmogenic ventricular cardiomyopathy: A paradigm shift from right to biventricular disease

    PubMed Central

    Saguner, Ardan M; Brunckhorst, Corinna; Duru, Firat

    2014-01-01

    Arrhythmogenic ventricular cardiomyopathy (AVC) is generally referred to as arrhythmogenic right ventricular (RV) cardiomyopathy/dysplasia and constitutes an inherited cardiomyopathy. Affected patients may succumb to sudden cardiac death (SCD), ventricular tachyarrhythmias (VTA) and heart failure. Genetic studies have identified causative mutations in genes encoding proteins of the intercalated disk that lead to reduced myocardial electro-mechanical stability. The term arrhythmogenic RV cardiomyopathy is somewhat misleading as biventricular involvement or isolated left ventricular (LV) involvement may be present and thus a broader term such as AVC should be preferred. The diagnosis is established on a point score basis according to the revised 2010 task force criteria utilizing imaging modalities, demonstrating fibrous replacement through biopsy, electrocardiographic abnormalities, ventricular arrhythmias and a positive family history including identification of genetic mutations. Although several risk factors for SCD such as previous cardiac arrest, syncope, documented VTA, severe RV/LV dysfunction and young age at manifestation have been identified, risk stratification still needs improvement, especially in asymptomatic family members. Particularly, the role of genetic testing and environmental factors has to be further elucidated. Therapeutic interventions include restriction from physical exercise, beta-blockers, sotalol, amiodarone, implantable cardioverter-defibrillators and catheter ablation. Life-long follow-up is warranted in symptomatic patients, but also asymptomatic carriers of pathogenic mutations. PMID:24772256

  19. Atherosclerosis and ischemic cardiomyopathy in a captive, adult red-tailed hawk (Buteo jamaicensis).

    PubMed

    Shrubsole-Cockwill, Alana; Wojnarowicz, Chris; Parker, Dennilyn

    2008-09-01

    An adult, male, captive red-tailed hawk (Buteo jamaicensis) of at least 19 years of age presented in dorsal recumbency. The hawk was nonresponsive, and despite initial supportive care, died shortly after presentation. Gross postmortem revealed no abnormal findings. Histologic examination demonstrated atherosclerosis and ischemic cardiomyopathy. This is the first reported case of atherosclerosis in a red-tailed hawk. PMID:18939649

  20. Sudden cardiac death associated with occult hypertrophic cardiomyopathy in a dog under anesthesia

    PubMed Central

    2005-01-01

    Abstract A 6-year-old, 3.0 kg, neutered female, Yorkshire terrier was referred for orthopedic surgery. Cardiac arrest followed unsuccessful treatment of bradycardia and systemic arterial hypotension under general anesthesia. Postmortem examination revealed hypertrophic cardiomyopathy. A possible relationship between treatment of bradycardia, systemic arterial hypotension, and sudden cardiac death is described. PMID:16422064