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Sample records for aortic hypoplasia presented

  1. Hypoplasia of the aortic root 1

    PubMed Central

    Nicks, Rowan; Cartmill, T.; Bernstein, L.

    1970-01-01

    We report a technique for the enlargement of a hypoplastic aortic root by an operation whereby the hypoplastic aortic root has been so enlarged by the insertion of a Dacron fabric gusset that it will accommodate a size 9A or larger Starr-Edwards prosthesis. Our experience in five patients is described. No matter what type of valve is used for replacement of a diseased aortic valve, and no matter what improved designs of valvular prosthesis are ultimately developed, it will be necessary (in the particular group described) to enlarge the aortic ring to accommodate a size which will function correctly without causing left ventricular outflow obstruction. Images PMID:5452289

  2. Pulmonary hypoplasia presenting with recurrent wheezing in an infant.

    PubMed

    Çeliksoy, Mehmet Halil; Tander, Burak; Aşılıoğlu, Nazik; Barış, Yakup Sancar; Yıldıran, Alişan

    2015-10-01

    Pulmonary hypoplasia is characterized by decrease in the number and size of pulmonary airways, alveoli and vessels. In autopsy, pulmonary hypoplasia is a major cause of death in neonates and infants. The disease is usually diagnosed in childhood period. Although it mimics lung parenchymal disease and other vascular abnormalities radiologically, it is easily recognized with computed tomography angiography and magnetic resonance angiography examinations. In 50% of patients, concomitant cardiovascular, neuromuscular, gastrointestinal tract, and urogenital anomalies are also available. There are two types of pulmonary hypoplasia: primary and secondary. Primary unilateral pulmonary hypoplasia may be asymptomatic and the tendency for bronchopulmonary infections is often increased in children. In this case report, a 22-month-old male patient characterized by recurrent infections and recurrent wheezes in infantile period, whose episodes of wheezing regressed after the pulmonectomy, was presented.

  3. Becker Nevus Syndrome Presented with Ipsilateral Breast Hypoplasia

    PubMed Central

    Pektas, Suzan Demir; Akoglu, Gulsen; Metin, Ahmet; Adiyaman, Nuran Sungu; Demirseren, Mustafa Erol

    2014-01-01

    Becker nevus syndrome (BNS) is a rare epidermal nevus syndrome characterized with Becker nevus and ipsilateral breast gland hypoplasia or other skin, skeletal and/or muscle tissue disorders. A 24-year-old woman presented with brown, irregular bordered patch with a diameter of approximately 10 cm which consisted of several small macules on the left breast skin. The ultrasonography and magnetic resonance imaging revealed left breast hypoplasia. Histopathological examination demonstrated minimal acanthosis, papillomatosis, increase in basal layer melanin and hypertrophy of the erector pili muscle. Immunohistochemical staining was positive for androgen in the epidermis, dermal stromal cells and skin appendages. Depending on the clinical and histopathological findings, the patient was diagnosed as BNS. Diagnosis of BNS needs careful examination of pigmented macules and patches since non-hairy BN may be easily overlooked. Patients with BN should be evaluated for associated abnormalities of BNS, in which the severity and extend of ectodermal involvement may differ from patient to other. PMID:25484431

  4. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

    PubMed

    Crahes, Marie; Saugier-Veber, Pascale; Patrier, Sophie; Aziz, Moutaz; Pirot, Nathalie; Brasseur-Daudruy, Marie; Layet, Valérie; Frébourg, Thierry; Laquerrière, Annie

    2013-07-01

    Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies. Post-mortem examination confirmed short stature and limbs, and revealed thymic hypoplasia associated with severe CD4 T-cell immunodeficiency along with extensive non caseating epithelioid granulomas in almost all organs, which to our knowledge has been described only in five cases. Molecular studies evidenced on one allele the most frequently reported founder mutation NR_003051: g.70A>G, which is present in 92% of Finnish patients with Cartilage Hair Hypoplasia. On the second allele, a novel mutation consisting of a 10 nucleotide insertion at position -18 of the promoter region of the RMRP gene (M29916.1:g.726_727insCTCACTACTC) was detected. The founder mutation was inherited from the father, and the novel mutation from the mother. To our knowledge, this case report represents the first detailed foetal analysis described in the literature.

  5. [Morphologic report and clinical evaluation of findings in a case of complete transposition of the great vessels of the heart and tubular hypoplasia of part of the aortic arch].

    PubMed

    Radović, S; Vuković, V; Mesihović, H

    1989-01-01

    We present a case of the coexistence transposition of the great vessels, atrial and ventricular septal defects, and extreme tubular hypoplasia of the aortic arch between the left common carotid and left subclavian arteries. Beside the thorough morphological description of that uncommon combined heart malformation, evaluation of clinical analysis is performed and compared with theoretically reconstructed chemodynamismus during patient's life.

  6. Left pulmonary artery hypoplasia presenting with unilateral hyperluscent lung.

    PubMed

    Sunavala, A J; Thacker, H P; Khann, J N

    2011-03-01

    Agenesis or hypoplasia of the right or left pulmonary arteries are among the rarest pulmonary artery anomalies with left sided anomalies being reported even less frequently. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. It must be considered as a rare cause of recurrent lower respiratory tract infections in childhood and in subjects with a low threshold for or recurrent "High Altitude Pulmonary Edema".

  7. Painless aortic dissection presenting as paraplegia.

    PubMed

    Colak, Necmettin; Nazli, Yunus; Alpay, Mehmet Fatih; Akkaya, Ismail Olgun; Cakir, Omer

    2012-01-01

    Acute dissection of the aorta can be life-threatening. As a presenting manifestation of aortic dissection, neurologic complications such as paraplegia are rare. Herein, we report the case of a 51-year-old man who presented with sudden-onset paraplegia and ischemia of the legs, with no chest or back pain. His medical history included coronary artery bypass grafting. Physical examination revealed pulseless lower extremities, and computed tomography showed aortic dissection from the ascending aorta to the common iliac arteries bilaterally. A lumbar catheter was inserted for cerebrospinal fluid drainage, and axillary arterial cannulation was established. With the use of cardiopulmonary bypass, the aortic dissection was corrected, and the previous coronary artery grafts were reattached. The surgery restored spinal and lower-extremity perfusion, and the patient walked unaided from the hospital upon his discharge 5 days later. Although acute aortic dissection presenting as paraplegia is rare, it should be considered in patients who have pulseless femoral arteries bilaterally and sudden-onset paraplegia, despite no pain in the chest or back. Prompt diagnosis and intervention can prevent morbidity and death.

  8. Aortic Disease Presentation and Outcome Associated with ACTA2 mutations

    PubMed Central

    Regalado, Ellen S.; Guo, Dongchuan; Prakash, Siddharth; Bensend, Tracy A.; Flynn, Kelly; Estrera, Anthony; Safi, Hazim; Liang, David; Hyland, James; Child, Anne; Arno, Gavin; Boileau, Catherine; Jondeau, Guillaume; Braverman, Alan; Moran, Rocio; Morisaki, Takayuki; Morisaki, Hiroko; Consortium, Montalcino Aortic; Pyeritz, Reed; Coselli, Joseph; LeMaire, Scott; Milewicz, Dianna M.

    2015-01-01

    Background ACTA2 mutations are the major cause of familial thoracic aortic aneurysms and dissections. We sought to characterize these aortic diseases in a large case series of individuals with ACTA2 mutations. Methods and Results Aortic disease, management, and outcome associated with the first aortic event (aortic dissection or aneurysm repair) were abstracted from the medical records of 277 individuals with 41 various ACTA2 mutations. Aortic events occurred in 48% of these individuals, with the vast majority presenting with thoracic aortic dissections (88%) associated with 25% mortality. Type A dissections were more common than type B dissections (54% versus 21%), but the median age of onset of type B dissections was significantly younger than type A dissections (27 years, IQR 18–41 versus 36 years, IQR 26–45). Only 12% of aortic events were repair of ascending aortic aneurysms, which variably involved the aortic root, ascending aorta and aortic arch. Overall cumulative risk of an aortic event at age 85 years was 0.76 (95% CI 0.64, 0.86). After adjustment for intra-familial correlation, gender and race, mutations disrupting p.R179 and p.R258 were associated with significantly increased risk for aortic events, whereas p.R185Q and p.R118Q mutations showed significantly lower risk of aortic events compared to other mutations. Conclusions ACTA2 mutations are associated with high risk of presentation with an acute aortic dissection. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2 mutations. PMID:25759435

  9. Aortic angiography

    MedlinePlus

    ... to: Abdominal aortic aneurysm Aortic dissection Aortic regurgitation Aortic stenosis Congenital (present from birth) problems Double aortic arch ... Aortic aneurysm repair - endovascular Aortic dissection Aortic insufficiency Aortic stenosis Magnetic resonance ... Patient Instructions Abdominal ...

  10. Chronic Thoracic Aortic Aneurysm Presenting 29 Years following Trauma

    PubMed Central

    Miller, Sarah; Kumar, Prashant; Van den Bosch, Rene; Khanafer, Adib

    2015-01-01

    Blunt, nonpenetrating injuries of the thoracic aorta are uncommon and associated with a high mortality rate within the first hour. Aortic injury is missed in 1-2% of patients that survive to hospital, and a chronic thoracic aortic aneurysm may subsequently form. We present a case in which a chronic thoracic aortic aneurysm was diagnosed 29 years following a significant motor vehicle accident. We discuss the epidemiology, presentation, and management of this uncommon consequence of blunt, nonpenetrating aortic injury. Our case illustrates an important clinical lesson; a past medical history of trauma should not be overlooked at any patient assessment. PMID:26351610

  11. Aortic root abscess presenting as alternating bundle branch block: Infective endocarditis of bicuspid aortic valve

    PubMed Central

    Jain, Rakesh; Kader, Muneer; Sajeev, C.G.; Krishnan, M.N.

    2015-01-01

    Bicuspid aortic valve is the most common congenital cardiac malformation, affecting 1%–2% of the population. Among various complications, incidence of infective endocarditis (IE) in the bicuspid aortic valve population is high with higher rate of periannular extension resulting in conduction disturbances. Here we are reporting a rare case of infective endocarditis of bicuspid aortic valve presented with alternating bundle branch block. PMID:26138186

  12. Adult presentation with vascular ring due to double aortic arch.

    PubMed

    Kafka, Henryk; Uebing, Anselm; Mohiaddin, Raad

    2006-11-01

    This is a case report on the use of cardiovascular magnetic resonance imaging to diagnose vascular ring due to double aortic arch in an adult presenting with an abnormal chest X-ray. The experience in this case and the literature review identify the benefits of using cardiovascular magnetic resonance imaging to clarify complex aortic arch anatomy.

  13. [Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion].

    PubMed

    Palano, G M; Licata, F; Carpinato, C; Sottile, F; Sciuto, R; Mattina, T; Distefano, G

    2010-12-01

    This article reports the case of newborn with multiple dimorphisms (microcephaly, hypertelorism, wide and flat nasal bridge, small nose, long philtrum, microretrognathia, malformed and low-set ears, short neck, redundant nuchal skin, genital anomalies), admitted in the hospital after two days from delivery for torpor, poor food and cyanosis. Babies were affected, at color-Doppler echocardiography, by coarctation of the aorta (CoA) with aortic arch hypoplasia. CoA is often associated to genetic and environmental factors that interact frequently. In this study the anamnestic absence of teratogen noxae and the presence of facial and genital anomalies suggest a genetic study to provide appropriate genetic information to parents. G-banding chromosomic analysis revealed a 46, XX der 4t(4;11) karyotype with partial 11q trisomy confirmed with FISH chromosome painting 4;11 and with FISH subtelomere specific 4(p/q)11(p/q). These techniques showed that derivative chromosome 4 was constituted by chromosome 4 with partial deletion in the q35 region and by 11q21 translocation. This rare anomaly is often inherited by an unbalanced segregation of a balanced translocation, present in one of the two parents. In the present study, the father carried a t(4q;11q) balanced translocation. A CGH-array analysis was executed to the child for the breakpoints definition. As 11q trisomy cases reported in literature are still few, this case can contribute to improve our knowledge on the genotype-phenotype correlation in this rare genetic anomaly.

  14. Chronological hypoplasia: aesthetic management

    PubMed Central

    Jayam, Cheranjeevi; Bandlapalli, Anila; Patel, Nikunj; Choudhary, Rama Shankar Kashinath

    2014-01-01

    Enamel hypoplasia is defined as a break in the continuity of enamel with a reduction in the layers leading to depressions or grooves. Chronological hypoplasia is differentiated from other forms of hypoplasia due to its characteristic presentation (multiple, symmetrical, chronological pattern). Chronological hypoplasias are seen at the time tooth erupts into the oral cavity leading to several problems like aesthetic problems, tooth sensitivity, caries and early pulpal involvement. Prevention of interaction of aetiological factors is not possible because multiple factors are required for enamel synthesis. This paper highlights how to diagnose, intercept and treat chronological hypoplasias. It also mentions reasons for treating a case and different modalities available. PMID:24907208

  15. Silent aortic dissection presenting as transient locked-in syndrome.

    PubMed

    Nadour, Wadih; Goldwasser, Brian; Biederman, Robert W; Taffe, Kevin

    2008-01-01

    Acute aortic dissection is a medical emergency. Without prompt recognition and treatment, the mortality rate is high. An atypical presentation makes timely diagnosis difficult, especially if the patient is experiencing no characteristic pain. Many patients with aortic dissection are reported to have presented with various neurologic manifestations, but none with only a presentation of transient locked-in syndrome.Herein, we report a case of completely painless aortic dissection in a woman who presented with a transient episode of anarthria, quadriplegia, and preserved consciousness. On physical examination, she had a 40-point difference in blood pressure between her left and right arms, and a loud diastolic murmur. The diagnosis of acute aortic dissection was reached via a combination of radiography, computed tomography, echocardiography, and a high index of clinical suspicion. The patient underwent emergency surgery and ultimately experienced a successful outcome.To our knowledge, this is the 1st report of aortic dissection that presented solely as locked-in syndrome. We suggest that silent aortic dissection be added to the differential diagnosis for transient locked-in syndrome.

  16. Erythroblastic Hypoplasia

    PubMed Central

    Smiley, R. K.

    1964-01-01

    Three patients with erythroblastic hypoplasia were observed for prolonged periods. In one patient, the phenomenon recurred on three occasions over a 12-year period. In the second, erythroblastic hypoplasia accompanied acute hemolytic anemia of the autoimmune type. The third patient had congenital erythroblastic hypoplasia which was observed for 14 years without remission. From the prolonged periods of observation of these three patients, it is concluded that the phenomenon of erythroblastic hypoplasia may develop abruptly, persist for variable periods of time, remit spontaneously and recur unpredictably. A total of four remissions observed in two patients were believed to be spontaneous and not a result of any of the forms of treatment administered. No remission has occurred in a 14-year-old boy with congenital erythroblastic hypoplasia. A classification of erythroblastic hypoplasia is proposed, based on the clinical circumstances in which the phenomenon has been encountered. ImagesFig. 1Fig. 2Fig. 3Fig. 4 PMID:14155120

  17. Successful staged neonatal repair of tetralogy of Fallot with long-segment hypoplasia of the aorta.

    PubMed

    Lu, Jimmy C; Shah, Sanket S; Owens, Sonal T; Dorfman, Adam L; Vedre, Ameeth; Goble, Monica M; Hirsch, Jennifer C; Charpie, John R

    2010-01-01

    We describe an extremely rare combination of tetralogy of Fallot (TOF), right-sided cervical aortic arch with long-segment hypoplasia, and other vascular anomalies. A two-stage surgical approach included aortic arch reconstruction followed by right ventricular muscle bundle division and ventricular septal defect closure a few weeks later. The initial clinical presentation, perioperative course, and imaging studies are presented along with a review of the relevant literature. This is the first report of successful neonatal repair of TOF with long-segment hypoplasia of the aorta.

  18. Postsurgical aortic false aneurysm: pathogenesis, clinical presentation and surgical strategy.

    PubMed

    Raffa, Giuseppe M; Malvindi, Pietro G; Ornaghi, Diego; Basciu, Alessio; Barbone, Alessandro; Tarelli, Giuseppe; Settepani, Fabrizio

    2013-08-01

    Postsurgical aortic false aneurysm occurs in less than 0.5% of all cardiac surgical cases and its management is a challenge in terms of preoperative evaluation and surgical approach. Although infections are well recognized as risk factors, technical aspects of a previous operation may have a role in pseudoaneurysm formation. The risk factors and clinical presentation of pseudoaneurysms and the surgical strategy are revisited in this article.

  19. A Contained Ruptured Abdominal Aortic Aneurysm Presenting with Vertebral Erosion.

    PubMed

    Li, Yongqi; Li, Lei; Zhang, Dongming; Wang, Xiaomei; Sun, Weidong; Wang, Han

    2017-02-24

    Chronic contained rupture (CCR) of abdominal aortic aneurysm (AAA) with vertebral erosion is a rare condition. Although it has been reported previously, it is still liable to be misdiagnosed. We present a case of CCR of AAA with vertebral erosion. A brief analysis of similar cases reported in the last 5 years is presented. A 71-year-old male was admitted to our hospital because of severe prickling pain in his left thigh. Computerized tomography angiography revealed an AAA which had caused erosion of L3 vertebral body and the left psoas muscle. An aortotomy was performed, and the excised aortic aneurysm replaced with a Dacron graft. Postoperative computed tomography (CT) angiography indicated a normal aortic graft. The patient was discharged 13 days after the surgery. In conclusion, pain in lower back and leg could be associated with vertebral erosion caused by CCR of AAA. Ultrasonography, CT, or magnetic resonance imaging of abdomen should be routinely performed in cases of lumbago that have associated risk factors for AAA.

  20. Rare presentation of ruptured syphilitic aortic aneurysm with pseudoaneurysm.

    PubMed

    de Almeida Feitosa, Israel Nilton; Dantas Leite Figueiredo, Magda; de Sousa Belem, Lucia; Evelin Soares Filho, Antônio Wilon

    2015-11-01

    We report the interesting case of a rare form of presentation of rupture of the ascending aorta with formation of a pseudoaneurysm, diagnosed following the development of a large mass on the surface of the chest over a period of about eight months. Serological tests were positive for syphilis. Echocardiography and computed tomography angiography were essential to confirm the diagnosis and therapeutic management. Cardiovascular syphilis is a rare entity since the discovery of penicillin. Rupture of an aortic aneurysm with formation of a pseudoaneurysm is a potentially fatal complication. The postoperative period was uneventful and the patient was discharged from hospital within days of surgery.

  1. Acute Paraplegia as a Presentation of Aortic Saddle Embolism

    PubMed Central

    Guishard, Kim

    2016-01-01

    Background. Acute onset paraplegia has a myriad of causes most often of a nonvascular origin. Vascular etiologies are infrequent causes and most often associated with postsurgical complications. Objective. To describe the occurrence and possible mechanism for aortic saddle embolism as a rare cause of acute paraplegia. Case Report. Described is a case of a 46-year-old female who presented with the sudden onset of nontraumatic low back pain with rapidly progressive paraplegia which was subsequently determined to be of vascular origin. PMID:27822396

  2. [Cerebellar hypoplasias].

    PubMed

    Safronova, Marta Maia; Barbot, Clara; Resende Pereira, Jorge

    2010-01-01

    Cerebellar hypoplasias are cerebellar malformations with small but completely formed cerebellum. They can be divided in focal and in diffuse or generalized. It is sometimes difficult to make distinction between cerebellar atrophy (progressive condition) and hipoplasia (not progressive condition). Focal hypoplasias are restricted to one cerebellar hemisphere or to the vermis. Diffuse hypoplasias refer to both cerebellar hemispheres and vermis. If there is associated IVth ventricle enlargement, hypoplasias occur in the context of Dandy-Walker complex, a continuum of posterior fossa cystic anomalies. A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO síndrome (progressive encephalopathy with oedema, hipsarrhythmia and optic atrophy), Joubert syndrome, congenital disorder of glycosylation type Ia, pontocerebellar hipoplasias Barth type I and II, diffuse subcortical heterotopia. The imaging finding of structural cerebellar anomalies frequently leads to diagnostic incertainty as the anomalies are mostly unspecific, implying an extenuating analytical and genetic workup. Their knowledge and classification may be useful to decide the patient adjusted laboratorial workup.

  3. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

    PubMed

    Chen, Chih-Ping; Huang, Ming-Chao; Chen, Yi-Yung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Town, Dai-Dyi; Wang, Wayseen

    2013-07-25

    We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of SRD5A1 and TPPP may be responsible for hypospadias and cerebellar hypoplasia, respectively, in this case.

  4. Hybrid Treatment of Acute Abdominal Aortic Thrombosis Presenting with Paraplegia.

    PubMed

    Azzarone, Matteo; De Troia, Alessandro; Iazzolino, Luigi; Nabulsi, Bilal; Tecchio, Tiziano

    2016-05-01

    Acute thrombotic or embolic occlusion of the abdominal aorta is a rare vascular emergency associated with high morbidity and mortality rates. Classically, the clinical presentation is a severe peripheral ischemia with bilateral leg pain as the predominant feature. Aortic occlusion presenting as an isolated acute onset of paraplegia due to spinal cord ischemia is very rare and requires improved awareness to prevent adverse outcomes associated with delayed diagnosis. We report the case of a 54-year-old man who presented with sudden paraplegia due to the thrombotic occlusion of the infrarenal aorta involving the first segment of the common iliac arteries on both sides; emergent transperitoneal aorto iliac thrombectomy combined with the endovascular iliac kissing-stent technique were performed achieving perioperative complete regression of the symptoms.

  5. Transcatheter Aortic Valve Replacement: Comprehensive Review and Present Status

    PubMed Central

    Misenheimer, Jacob A.; Ramaraj, Radhakrishnan

    2017-01-01

    Aortic stenosis is the most common valvular heart disease in the developed world. About 7% of the population over age 65 years suffers from degenerative aortic stenosis. The prognosis of patients with symptomatic severe aortic stenosis is dismal without valve replacement. Even though the American College of Cardiology recommends aortic valve replacement to treat this condition as a class I recommendation, approximately one third of these patients over the age of 75 years are not referred for surgery. Typically, this is from concern about prohibitive surgical risk associated with patient frailty, comorbidities, age, and severe left ventricular dysfunction. The advent in France of transcatheter aortic valve replacement has raised the hope in the United States for an alternative, less invasive treatment for aortic stenosis. Two recent trials—the Placement of AoRTic TraNscathetER Valve Trial Edwards SAPIEN Transcatheter Heart Valve (Partner) and the CoreValve US Pivotal—have established transcatheter aortic valve replacement as the preferred approach in patients who are at high or prohibitive surgical risk. The more recently published Partner 2 trial has shown the feasibility of transcatheter aortic valve replacement in intermediate-surgical-risk patients as well. With a profile that promises easier use and better valve performance and delivery, newer-generation valves have shown their potential for further improvement in safety profile and overall outcomes. We review the history and status of this topic. PMID:28265210

  6. Tsutsugamushi disease presenting with aortic valve endocarditis: a case report and literature review

    PubMed Central

    Yu, Shujie; Yu, Xianguan; Zhou, Bin; Liu, Dinghui; Wang, Min; Zhang, Hui; Qian, Xiaoxian

    2016-01-01

    Tsutsugamushi disease is a zoonotic disease caused by Orientia tsutsugamushi in which humans are accidental hosts. Infective endocarditis associated with Tsutsugamushi disease has not been previously reported. We are describing a case of Tsutsugamushi disease presenting with aortic valve endocarditis. The clinical data of a 67-year-old female with O. tsutsugamushi-induced aortic valve endocarditis was summarized retrospectively and analyzed with a literature review. Treatment of O. tsutsugamushi-induced aortic valve endocarditis with chloramphenicol is recommended. PMID:28078179

  7. Contralateral approach to iliac artery recanalization with kissing nitinol stents present in the aortic bifurcation.

    PubMed

    Joseph, George; Hooda, Amit; Thomson, Viji Samuel

    2015-01-01

    A 69-year-old man, who had earlier undergone reconstruction of the aortic bifurcation with kissing nitinol stents, presented with occlusion of the left external iliac artery. The occlusion was successfully and safely recanalized using contralateral femoral approach with passage of interventional hardware through the struts of the stents in the aortic bifurcation. Presence of contemporary flexible nitinol stents with open-cell design in the aortic bifurcation is not a contraindication to the use of the contralateral femoral approach.

  8. Unusual presenting of acute aortic dissection due to penetrating atheromatous ulcer.

    PubMed

    Atas, Halil; Durmus, Erdal; Sunbul, Murat; Birkan, Yasar; Ozben, Beste

    2014-07-01

    Penetrating atheromatous ulcer (PAU) is an atherosclerotic ulcer penetrating the internal elastic lamina of the aortic wall causing a hematoma within the media layer of aorta. They are commonly located in the descending aorta of the elderly and hypertensive patients. They may rarely be complicated by aortic dissection. We report a relative young normotensive patient presenting with acute aortic dissection due to PAU located in the ascending aorta.

  9. Aortic dissection presenting as acute lower extremity ischemia: report of a case.

    PubMed Central

    Liu, Wen-Pin; Chen, Wei-Kung; Ng, Kim-Choy

    2002-01-01

    Although not common, acute leg ischemia is an important element in the clinical presentation of a patient with aortic dissection. This report describes a case of aortic dissection in which the main feature at presentation was acute right leg ischemia. The angiography showed right common iliac artery and external iliac artery occlusion. Diagnosis was made by clinical evaluation and angiography. Embolectomy was then attempted immediately but failed. Aortic dissection was highly suspected and confirmed by emergency computed tomography. Fortunately, the patient had good recovery. Aortic dissection is potentially lethal if misdiagnosed or if recognition is delayed. As such, aortic dissection should be considered in the differential diagnosis. Images Figure 1 Figure 2 PMID:12784971

  10. Wegener's granulomatosis presenting as an abdominal aortic aneurysm: a case report

    PubMed Central

    2009-01-01

    Introduction Aortic aneurysm is not common in young patient. When a young patient presents with abdominal aortic aneurysm, there may be an underlying cause. Case presentation Here, we describe a case of a 33-year-old gentleman who presented with flu like illness, chest and abdominal pains following a tooth extraction. A chest X-ray and subsequent computerised tomogram of the chest and abdomen demonstrated lung nodules and an abdominal aortic aneurysm. The aneurysm was repaired and his serology was positive for Wegener's granulomatosis. A nasal mucosal biopsy confirmed WG. He was treated with oral steroids and cyclophosphamide. His graft leaked and had to be replaced with a synthetic graft. Two months after his re-operation, he remains well. Conclusion Whenever a young patient presents with an abdominal aortic aneurysm, an underlying connective disease should be excluded because early steroid/immunosuppressive treatment may prevent the development of further aneurysms. PMID:20066062

  11. Acute thoracic aortic dissection presenting as sore throat: report of a case.

    PubMed Central

    Liu, Wen-Pin; Ng, Kim-Choy

    2004-01-01

    Acute dissection of the aorta can be one of the most dramatic of cardiovascular emergencies. Its symptoms can occur abruptly and progress rapidly. Prompt recognition and appropriate intervention is crucial. However, not all aortic dissections present with classic symptoms of abrupt chest, back, or abdominal pain, and the diagnosis may be missed. Aortic dissection presenting as a sore throat is quite unusual. A 53-year-old man presented with sore throat as the early symptom of an acute thoracic aortic dissection. Unfortunately, the diagnosis was delayed, and the patient died. Given the high morbidity and mortality after delayed recognition or misdiagnosis, aortic dissection should be considered in the differential diagnosis of a patient presenting with sore throat and normal findings of neck and throat, even when there is no classic symptoms. PMID:15829145

  12. A patient with acute aortic dissection presenting with bilateral stroke - A rare experience.

    PubMed

    Kowalska-Brozda, Olimpia; Brozda, Mateusz

    2015-01-01

    Acute aortic dissection is a rare, life-threatening condition requiring early recognition and proper treatment. Although chest pain remains the most frequent initial symptom, clinical manifestation of aortic dissection varies. Rarely aortic dissection starts with neurological symptoms such as ischemic stroke, which is usually right-sided. A danger of performing thrombolytic therapy in these patients exists if aortic dissection is overlooked. Herein, we present a case of a patient with acute aortic dissection without typical chest pain whose initial manifestation was bilateral stroke. The uncommon presentation which masked the underlying condition delayed implementation of appropriate management. Moreover, the late admission to hospital prevented the patient from administration of recombined tissue plasminogen activator that would certainly decrease chances of survival. Presented case highlights the need for thorough physical examination at admission to hospital in all patients with acute stroke and points out the necessity of proper clinical work-up including adequate aorta imaging modalities of patients with acute stroke and suggestive findings of aortic dissection.

  13. Insurance Status is Associated with Acuity of Presentation and Outcomes for Thoracic Aortic Operations

    PubMed Central

    Andersen, Nicholas D.; Brennan, J. Matthew; Zhao, Yue; Williams, Judson B.; Williams, Matthew L.; Smith, Peter K.; Scarborough, John E.; Hughes, G. Chad

    2014-01-01

    Background Non-elective procedure status is the greatest risk factor for postoperative morbidity and mortality in patients undergoing thoracic aortic operations. We hypothesized that uninsured patients were more likely to require non-elective thoracic aortic operation due to decreased access to preventative care and elective surgical services. Methods and Results An observational study of the Society of Thoracic Surgeons Database identified 51,282 patients who underwent thoracic aortic surgery between 2007–2011 at 940 North American centers. Patients were stratified by insurance status (private insurance, Medicare, Medicaid, other insurance, or uninsured) as well as age < 65 years or age ≥ 65 years to account for differences in Medicare eligibility. The need for non-elective thoracic aortic operation was highest for uninsured patients (71.7%) and lowest for privately insured patients (36.6%). The adjusted risks of non-elective operation were increased for uninsured patients (adjusted risk ratio [ARR], 1.77; 95% confidence interval [CI], 1.70–1.83 for age < 65 years; ARR, 1.46; 95% CI, 1.29–1.62 for age ≥ 65 years) as well as Medicaid patients age < 65 years (ARR, 1.18; 95% CI, 1.10–1.26) when compared to patients with private insurance. The adjusted odds of major morbidity and/or mortality were further increased for all patients age < 65 years without private insurance (ARRs between 1.13 and 1.27). Conclusions Insurance status was associated with acuity of presentation and major morbidity and mortality for thoracic aortic operations. Efforts to reduce insurance-based disparities in the care of patients with thoracic aortic disease appear warranted and may reduce the incidence of aortic emergencies and improve outcomes after thoracic aortic surgery. PMID:24714600

  14. Imaging of abdominal aortic aneurysm: the present and the future

    PubMed Central

    Hong, Hao; Yang, Yunan; Liu, Bo; Cai, Weibo

    2010-01-01

    Abdominal Aortic Aneurysm (AAA) is a common, progressive, and potentially lethal vascular disease. A major obstacle in AAA research, as well as patient care, is the lack of technology that enables non-invasive acquisition of molecular/cellular information in the developing AAA. In this review we will briefly summarize the current techniques (e.g. ultrasound, computed tomography, and magnetic resonance imaging) for anatomical imaging of AAA. We also discuss the various functional imaging techniques that have been explored for AAA imaging. In many cases, these anatomical and functional imaging techniques are not sufficient for providing surgeons/clinicians enough information about each individual AAA (e.g. rupture risk) to optimize patient management. Recently, molecular imaging techniques (e.g. optical and radionuclide-based) have been employed to visualize the molecular alterations associated with AAA, which are discussed in this review. Lastly, we try to provide a glance into the future and point out the challenges for AAA imaging. We believe that the future of AAA imaging lies in the combination of anatomical and molecular imaging techniques, which are largely complementary rather than competitive. Ultimately, with the right molecular imaging probe, clinicians will be able to monitor AAA growth and evaluate the risk of rupture accurately, so that the life-saving surgery can be provided to the right patients at the right time. Equally important, the right imaging probe will also allow scientists/clinicians to acquire critical data during AAA development and to more accurately evaluate the efficacy of potential treatments. PMID:20180767

  15. Imaging of Abdominal Aortic Aneurysm: the present and the future.

    PubMed

    Hong, Hao; Yang, Yunan; Liu, Bo; Cai, Weibo

    2010-11-01

    Abdominal Aortic Aneurysm (AAA) is a common, progressive, and potentially lethal vascular disease. A major obstacle in AAA research, as well as patient care, is the lack of technology that enables non-invasive acquisition of molecular/cellular information in the developing AAA. In this review we will briefly summarize the current techniques (e.g. ultrasound, computed tomography, and magnetic resonance imaging) for anatomical imaging of AAA. We also discuss the various functional imaging techniques that have been explored for AAA imaging. In many cases, these anatomical and functional imaging techniques are not sufficient for providing surgeons/clinicians enough information about each individual AAA (e.g. rupture risk) to optimize patient management. Recently, molecular imaging techniques (e.g. optical and radionuclide-based) have been employed to visualize the molecular alterations associated with AAA, which are discussed in this review. Lastly, we try to provide a glance into the future and point out the challenges for AAA imaging. We believe that the future of AAA imaging lies in the combination of anatomical and molecular imaging techniques, which are largely complementary rather than competitive. Ultimately, with the right molecular imaging probe, clinicians will be able to monitor AAA growth and evaluate the risk of rupture accurately, so that the life-saving surgery can be provided to the right patients at the right time. Equally important, the right imaging probe will also allow scientists/clinicians to acquire critical data during AAA development and to more accurately evaluate the efficacy of potential treatments.

  16. Staged endourologic and endovascular repair of an infrarenal inflammatory abdominal aortic aneurysm presenting with forniceal rupture.

    PubMed

    Edmonds, Rebecca D; Tomaszewski, Jeffrey J; Jackman, Stephen V; Chaer, Rabih A

    2008-11-01

    We present the case of a 79-year-old female who presented with severe left flank pain and a pulsatile abdominal mass. She was diagnosed with left peripelvic urinary extravasation and forniceal rupture secondary to an intact infrarenal inflammatory abdominal aortic aneurysm with extensive periaortic fibrosis. Successful operative repair was performed with staged ureteral and endovascular stenting with subsequent resolution of periaortic inflammation and ureteral obstruction, and shrinkage of the aneurysm sac. Inflammatory abdominal aortic aneurysms (IAAAs) represent 5% to 10% of all abdominal aortic aneurysms. The distinguishing features of inflammatory aneurysms include thickening of aneurysm wall, retroperitoneal fibrosis, and adhesions to adjacent retroperitoneal structures. The most commonly involved adjacent structures are the duodenum, left renal vein, and ureter. Adhesions to the urinary system can cause hydronephrosis or hydroureter and result in obstructive uropathy. An unusual case of IAAA presenting with forniceal rupture is presented, with successful endovascular and endourologic repair.

  17. Unusual presentation of aortic dissection: post-coital acute paraplegia with renal failure.

    PubMed

    Galabada, Dinith P; Nazar, Abdul L M

    2014-09-01

    We report the case of a 45-year-old chronic smoker who presented with acute paraplegia occurring during coitus and subsequently developed acute renal failure (ARF) requiring dialysis. He had absent peripheral pulses in the lower limbs with evidence of acute ischemia. Doppler study showed dissecting aneurysm of thoracic aorta, thrombotic occlusion of the distal aorta from L1 level up to bifurcation and occlusion of the right renal artery by a thrombus that was confirmed by magnetic resonance imaging of the spine. He was not subjected to any vascular intervention as his lower limbs were not salvageable due to delay in the diagnosis. Post-coital aortic dissection and aortic dissection presenting with acute paraplegia and ARF are very rare. This is probably the first case report with post-coital acute aortic dissection presenting with paraplegia and ARF. This case emphasizes the importance of a careful examination of peripheral pulses in patients presenting with ARF and paraplegia.

  18. Congenital optic tract hypoplasia.

    PubMed

    Hatsukawa, Yoshikazu; Fujio, Takahiro; Nishikawa, Masanori; Taylor, David

    2015-08-01

    We report a case of isolated unilateral optic tract hypoplasia, described only twice previously. Bilateral optic disk hypoplasia was seen ophthalmoscopically and visual field studies showed an incongruous right homonymous hemianopia. Magnetic resonance imaging showed bilateral hypoplasia of both optic nerves and the left optic tract. Spectral domain optical coherence tomography mapping correlated well with the visual field studies.

  19. Alpha-1 Antitrypsin Deficiency Presenting with MPO-ANCA Associated Vasculitis and Aortic Dissection

    PubMed Central

    van Schaik, Jan; Crobach, Stijn L. P.; van Rijswijk, Catharina S. P.; Rotmans, Joris I.

    2017-01-01

    The combination of alpha-1 antitrypsin (AAT) deficiency, ANCA-vasculitis, and aortic aneurysm has been rarely described in literature. We report an eventually fatal case in a 70-year-old patient who initially presented with giant cell arteritis and ANCA associated glomerulonephritis. Several years later, he presented with aortic dissection due to large vessel vasculitis, raising the suspicion of AAT deficiency, as two first-line relatives had chronic obstructive pulmonary disease, while they never smoked. This diagnosis was confirmed by AAT electrophoresis and immunohistochemistry on a temporal artery biopsy. Considering AAT deficiency in these cases might lead to a more timely diagnosis. PMID:28367219

  20. Asymptomatic aortic aneurysm causing right vocal cord palsy and hoarseness: A rare presentation.

    PubMed

    Rizvi, M M; Singh, Raj Bahadur; Jain, Anuj; Sarkar, Arindam

    2014-01-01

    Vocal cord palsy (VCP) presenting as hoarseness of voice can be the first symptom of very serious and sinister common pathologies. But vocal cord palsy resulting from aortic aneurysm is a rare entity and still rarer is the right cord palsy due to aortic aneurysm. We are reporting a rare case in which a 52-year old male smoking for last 30 years having asymptomatic aortic aneurysm presented to us with hoarseness of voice. On Panendoscopy, no local pathology was found and CECT from base of skull to T12 was advised. CECT showed a large aneurysm involving ascending aorta and extending upto abdominal aorta with compression of the bilateral bronchi. CTVS consultation was sought and they advised for regular follow-up only. We are reporting this case to warn both the anaesthetist and the surgeon about the catastrophic complications if they are not alert in handling such cases.

  1. Bilateral Maxillary Sinus Hypoplasia

    PubMed Central

    Khanduri, Sachin; Agrawal, Sumit; Goyal, Swati

    2014-01-01

    Maxillary sinus hypoplasia (MSH) is an uncommon abnormality of paranasal sinuses noted in clinical practice. Computed tomography (CT) scan helps in diagnosing the anomaly along with any anatomical variation that may be associated with it. MSH is usually associated with other anomalies like uncinate process hypoplasia. Three types of MSH have been described. Type 1 MSH shows mild maxillary sinus hypoplasia, type 2 shows significant sinus hypoplasia with narrowed infundibular passage and hypoplastic or absent uncinate process, and type 3 is cleft like maxillary sinus hypoplasia with absent uncinate process. CT and endoscopic examination usually complement each other in diagnosing MSH. PMID:25548709

  2. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

    PubMed

    McCann, Liza J; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M; Wright, Michael; Abinun, Mario

    2014-01-01

    We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.

  3. Multi-drug-resistant hypertension caused by severe aortic coarctation presenting in late adulthood.

    PubMed

    Meller, Stephanie M; Fahey, John T; Setaro, John F; Forrest, John K

    2015-04-01

    Aortic coarctation, a congenital narrowing in the region of the ligamentum arteriosium, is a rare etiology for multi-drug-resistant hypertension in adulthood; however, advances in stenting modalities may offer long-term improvements in morbidity and possibly even cure. We report on a female patient in her late 50s presenting with refractory hypertension and severely elevated renin levels, ultimately diagnosed with aortic coarctation and treated with percutaneous stent implantation, which resulted in successful blood pressure control with verapamil monotherapy. This case highlights the efficacy of endovascular stent implantation for the treatment of coarctation and the need for clinicians to consider this disease entity in the differential diagnosis of refractory hypertension even in late adulthood.

  4. Inflammatory abdominal aortic aneurysm presenting as bilateral hydroureteronephrosis: a case report and review of literature.

    PubMed

    Galosi, Andrea Benedetto; Grilli Cicilioni, Carlo; Sbrollini, Giulia; Angelini, Andrea; Maselli, Guevar; Carbonari, Luciano

    2014-12-30

    We report a case of Inflammatory Abdominal Aortic Aneurysm (IAAA) producing bilateral hydro-ureteronephrosis. A 74-year-old patient presented to urologist office for bilateral hydronephrosis detected by kidney and bladder ultrasound (US). Patient reported lower urinary tract symptoms and inconstant and slight low back pain irradiated to inguinal region dating 3 weeks. Renal function, urine analysis and abdominal examination were normal. However the repeated ultrasound in the urologist office revealed abdominal aortic aneurism extended to iliac vessels. The patient was sent directly to vascular surgery unit where contrast computerized tomography (CT) and successful surgical repair were done. Final diagnosis was IAAA. The post-operative course was uneventful. Renal function was regular and the hydronephrosis reduced spontaneously under monitoring by CT and US. We review diagnosis and management of hydronephrosis that is sometimes linked to IAAA rather than standard AAA. Abdominal ultrasound is mandatory in any bilateral hydronephrosis and it could save lives.

  5. A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita

    PubMed Central

    Ahmad, Imran; Paterson, Wendy F.; Lin, Lin; Adlard, Peter; Duncan, Philippa; Tolmie, John; Achermann, John C.; Donaldson, Malcolm D.C.

    2012-01-01

    A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died soon after birth. A third uncle failed to thrive during infancy but improved with a course of cortisone, then being untreated until further investigation revealed adrenal insufficiency. A fourth uncle died aged 10 days, with urinary salt loss and hypoplastic adrenal glands at postmortem. Molecular studies on the proband, his mother, maternal grandmother, and surviving uncle showed a novel C to G substitution at nucleotide position 794 (missense mutation T265R) in the DAX1 (NR0B1) gene. The proband has responded well to steroid replacement but has proved sensitive to 9α-fludrocortisone treatment, developing hypertension on a dose of 133 μg/m2/day. At 8.8 years he was noted to have testicular volumes of 4 ml, despite no other evidence of secondary sexual development and prepubertal gonadotrophin levels. Novel features of this family include a novel DAX1 mutation, marked variability in age of presentation, hypertension on ‘standard’ doses of 9α-fludrocortisone and mild testicular enlargement. PMID:17308433

  6. Familial Thoracic Aortic Aneurysm with Dissection Presenting as Flash Pulmonary Edema in a 26-Year-Old Man

    PubMed Central

    Omar, Sabry; Moore, Tyler; Payne, Drew; Momeni, Parastoo; Mulkey, Zachary; Nugent, Kenneth

    2014-01-01

    We are reporting a case of familial thoracic aortic aneurysm and dissection in a 26-year-old man with no significant past medical history and a family history of dissecting aortic aneurysm in his mother at the age of 40. The patient presented with cough, shortness of breath, and chest pain. Chest X-ray showed bilateral pulmonary infiltrates. CT scan of the chest showed a dissection of the ascending aorta. The patient underwent aortic dissection repair and three months later he returned to our hospital with new complaints of back pain. CT angiography showed a new aortic dissection extending from the left carotid artery through the bifurcation and into the iliac arteries. The patient underwent replacement of the aortic root, ascending aorta, total aortic arch, and aortic valve. The patient recovered well postoperatively. Genetic studies of the patient and his children revealed no mutations in ACTA2, TGFBR1, TGFBR2, TGFB2, MYH11, MYLK, SMAD3, or FBN1. This case report focuses on a patient with familial TAAD and discusses the associated genetic loci and available screening methods. It is important to recognize potential cases of familial TAAD and understand the available screening methods since early diagnosis allows appropriate management of risk factors and treatment when necessary. PMID:25104961

  7. Unilateral Pulmonary Hypoplasia in a Child.

    PubMed

    Dewan, G

    2015-01-01

    Pulmonary hypoplasia is an uncommon congenital anomaly. A case reported in a six year old male child from Bangladesh who presented with chronic dry cough, episodic fever and occasional haemoptysis causing confusion with tuberculosis. X-ray suggested lung collapse. Final diagnosis reached by combined bronchoscopy, computed tomogram scan of chest and pulmonary angiogram. In a child with complete radiological lung collapse possibility of pulmonary hypoplasia should be kept in mind.

  8. Myelopathy in adult aortic coarctation: Causes and caveats of an atypical presentation

    PubMed Central

    Mourya, Chandan; Verma, Ashish; Bansal, Anand; Shukla, Ram C; Srivastava, Arvind

    2016-01-01

    A 57-year-old female presenting with acute-onset paraplegia was referred for magnetic resonance imaging (MRI) of cervico-dorsal spine. On MRI, multiple tortuous dilated vessels were noted in the epidural space with long segment cord compression and imaging features of compressive myelopathy. Associated small acute cervico-dorsal epidural hematoma was also noted in the same region. Computed tomography (CT) angiography was performed subsequently which revealed post-ductal coarctation of aorta with multiple arterial collaterals in the chest wall and spinal canal. An extensive review of English language literature pertaining to the clinical presentations of adult aortic coarctation revealed only few reports of acute compressive myelopathy due to spinal epidural collateral vessels. Further, presentation at such a late age has not been reported before. In the present case, apart from a hypertrophied anterior spinal artery and perispinal collaterals, an anterior epidural hematoma was an additional important factor in the causation of myelopathy. PMID:28104936

  9. MR findings in pontocerebellar hypoplasia.

    PubMed

    Uhl, M; Pawlik, H; Laubenberger, J; Darge, K; Baborie, A; Korinthenberg, R; Langer, M

    1998-07-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons-pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to 'float' in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect.

  10. Almost Unilateral Focal Dermal Hypoplasia

    PubMed Central

    Lee, Solam; Choe, Sung Jay

    2017-01-01

    Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly. PMID:28223754

  11. A case of amblyopia with contralateral optic nerve hypoplasia.

    PubMed

    Frantz, Kelly A; Pang, Yi

    2013-09-01

    We describe an unusual case of unilateral optic nerve hypoplasia (ONH) in a patient with contralateral anisometropic/strabismic amblyopia. A seven-year-old boy presented with visual acuities of 6/12 R and 6/18 L and eccentric fixation in the left eye. Cycloplegic retinoscopy was R +1.50/-0.50 × 180 and L +5.25 DS. Funduscopy revealed optic nerve hypoplasia of the right eye. The patient fixated with his better-seeing right eye, despite the optic nerve hypoplasia. His reduced vision may be attributed to optic nerve hypoplasia in the right eye and amblyopia in the left. Although optic nerve hypoplasia can occur with ipsilateral amblyopia, we believe this is the first reported case of unilateral optic nerve hypoplasia in the fellow eye of an amblyopic patient.

  12. Internal right ventricular band for multiple ventricular septal defects in a neonate undergoing arterial switch and aortic arch repair.

    PubMed

    Carroll, William W; Shirali, Girish S; Bradley, Scott M

    2011-01-01

    A neonate presented with d-transposition of the great arteries, aortic arch hypoplasia, aortic coarctation, and multiple ventricular septal defects. During the arterial switch procedure and the aortic arch repair, a fenestrated Gore-Tex disk (W.L. Gore & Assoc, Flagstaff, AZ) was sewn into the right ventricular outflow tract to restrict pulmonary blood flow. The internal right ventricular band successfully controlled the pulmonary blood flow, maintaining a systemic oxygen saturation of 88% to 92%, and allowing growth from 3.5 to 10.5 kg. At 8 months of age, the internal band in the patient was removed, and the ventricular septal defects were successfully closed.

  13. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report

    PubMed Central

    Khadir, Mohammed Abdul; Narayana, Ganesh; Nayar, Pradeep G

    2016-01-01

    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future. PMID:28208970

  14. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report.

    PubMed

    Khadir, Mohammed Abdul; Narayana, Ganesh; Ramagopal, Ganavi; Nayar, Pradeep G

    2016-12-01

    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future.

  15. Cartilage hair hypoplasia.

    PubMed Central

    Siggers, D. C.; Burke, J. B.; Morris, B.; Normand, I. C.; Tanner, J. M.; Williamson, D. A.

    1977-01-01

    Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature. Images Figs. 1-6 Fig. 7 Fig. 8 Fig. 9 Fig. 10 PMID:917962

  16. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi.

    PubMed

    Oguz, Berna; Alan, Serdar; Ozcelik, Ugur; Haliloglu, Mithat

    2009-09-01

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study.

  17. Late presentation of double aortic arch in school-age children presumed to have asthma: the benefits of spirometry and examination of the flow-volume curve.

    PubMed

    Uchida, Derek A

    2009-10-01

    Children with double aortic arch most often present in infancy. This report presents 3 patients in whom the diagnosis of double aortic arch was not revealed until later in childhood. They were all given a misdiagnosis of asthma, but abnormalities detected on the flow-volume curve led to the true diagnosis.

  18. Morphology of aortic arch obstruction with patent ductus arteriosus

    PubMed Central

    Marino, Bruno; Chiariello, Luigi; Mercanti, Corrado; Bosman, Cesare; Colloridi, Vicenzo; Reale, Attilio; Marino, Benedetto

    1981-01-01

    Thirty-one hearts with aortic arch obstruction and patent ductus arteriosus were examined with special reference to associated cardiac anomalies. Six presented with complete interruption of the aortic arch, four with atretic isthmus, twelve with coarctation, and three with tubular hypoplasia. Associated cardiac anomalies were divided into two main groups: (1) septal defect with left-to-right shunt, and (2) left ventricular inflow and/or outflow obstruction. A high incidence (9/19=47.4%) of ventriculo-infundibular malalignment type of ventricular septal defect with subaortic stenosis was observed. Associated cardiac lesions that reduce blood flow in the aortic arch during fetal life may be responsible for poor development of this structure. Images PMID:15216214

  19. Prevalence and possible etiology of dental enamel hypoplasia.

    PubMed

    El-Najjar, M Y; DeSanti, M V; Ozebek, L

    1978-02-01

    Two hundred black and white adult human skeletons and 200 living black and white children from the greater Cleveland area were examined for evidence of enamel hypoplasia. Enamel hypoplasia, present in varying expressings (pits, lines and grooves), was found to be more prevalent in both skeletal samples, than in the living groups. In the majority of cases, sex differences between white and black males and females through time and space are highly significant for all tooth catagories. Regardless of the mechanisms behind it, prevalence of enamel hypoplasia for both white and black group has significantly declined through time. No evidence suggesting specific etiologies responsible for enamel hypoplasia can be found. In the majority of previously published reports, the etiology is still idiopathic. The reduction in the prevalence of enamel hypoplasia in the groups examined through time may be related to improved nutritional conditions and the elimination or decline of childhood diseases that have been implicated in this condition.

  20. Prenatal prediction of pulmonary hypoplasia.

    PubMed

    Triebwasser, Jourdan E; Treadwell, Marjorie C

    2017-03-15

    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  1. Genetics Home Reference: lissencephaly with cerebellar hypoplasia

    MedlinePlus

    ... Conditions lissencephaly with cerebellar hypoplasia lissencephaly with cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain ...

  2. Genetics Home Reference: focal dermal hypoplasia

    MedlinePlus

    ... Home Health Conditions focal dermal hypoplasia focal dermal hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Focal dermal hypoplasia is a genetic disorder that primarily affects the ...

  3. Genetics Home Reference: Leydig cell hypoplasia

    MedlinePlus

    ... Home Health Conditions Leydig cell hypoplasia Leydig cell hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Leydig cell hypoplasia is a condition that affects male sexual development. ...

  4. Battle of the Bulge: Aortic Aneurysm Management From Early Modernity to the Present.

    PubMed

    Barr, Justin

    2017-02-21

    For centuries, physicians have recognized aortic aneurysms as an acute threat to life. Therapeutic approaches to the disease began in the 18th century when leading physicians, such as René Laennec and Antonio Valsalva, applied research on circulation and blood coagulation to devise whole-body fasting and bleeding regimens to prevent rupture. After John Hunter's success in ligating arteries to treat peripheral aneurysms, surgeons attempted analogous operations on the aorta, but even the renowned Sir Astley Cooper and William Halsted met with disastrous results. Other clinicians tried various methods of creating intraluminal clots, including the application of such new technologies as electricity and plastic. Vessel repair techniques, pioneered by Alexis Carrel and others in the 20th century, eventually provided a reliably effective treatment. In the past few decades, minimally invasive methods that approach aneurysms endovascularly through small groin incisions have been adopted. A successful 2005 congressional campaign to fund screening for aortic aneurysms brought the disease to national attention and symbolizes current confidence in curing it. Drawing on various published and unpublished sources, this paper elucidates the development of specific treatments for aortic aneurysms over time and more broadly addresses how medicine and surgery apply the knowledge and technology available in particular eras to treat a specific, identifiable, and lethal disease. Examining the evolution of these therapeutic efforts unveils broader trends in the history of medicine. This allows aortic aneurysms to serve as a case study for exploring shifting philosophies in medical history.

  5. A Case Report on the Successful Treatment of Streptococcus pneumoniae-Induced Infectious Abdominal Aortic Aneurysm Initially Presenting with Meningitis

    PubMed Central

    Kawatani, Yohei; Nakamura, Yoshitsugu; Hayashi, Yujiro; Taneichi, Tetsuyoshi; Ito, Yujiro; Kurobe, Hirotsugu; Suda, Yuji; Hori, Takaki

    2015-01-01

    Infectious abdominal aortic aneurysms often present with abdominal and lower back pain, but prolonged fever may be the only symptom. Infectious abdominal aortic aneurysms initially presenting with meningitis are extremely rare; there are no reports of their successful treatment. Cases with Streptococcus pneumoniae as the causative bacteria are even rarer with a higher mortality rate than those caused by other bacteria. We present the case of a 65-year-old man with lower limb weakness and back pain. Examination revealed fever and neck stiffness. Cerebrospinal fluid showed leukocytosis and low glucose levels. The patient was diagnosed with meningitis and bacteremia caused by Streptococcus pneumoniae and treated with antibiotics. Fever, inflammatory response, and neurologic findings showed improvement. However, abdominal computed tomography revealed an aneurysm not present on admission. Antibiotics were continued, and a rifampicin soaked artificial vascular graft was implanted. Tissue cultures showed no bacteria, and histological findings indicated inflammation with high leukocyte levels. There were no postoperative complications or neurologic abnormalities. Physical examination, blood tests, and computed tomography confirmed there was no relapse over the following 13 months. This is the first reported case of survival of a patient with an infectious abdominal aortic aneurysm initially presenting with meningitis caused by Streptococcus pneumoniae. PMID:26779361

  6. Acute Aortic Syndromes and Thoracic Aortic Aneurysm

    PubMed Central

    Ramanath, Vijay S.; Oh, Jae K.; Sundt, Thoralf M.; Eagle, Kim A.

    2009-01-01

    Acute and chronic aortic diseases have been diagnosed and studied by physicians for centuries. Both the diagnosis and treatment of aortic diseases have been steadily improving over time, largely because of increased physician awareness and improvements in diagnostic modalities. This comprehensive review discusses the pathophysiology and risk factors, classification schemes, epidemiology, clinical presentations, diagnostic modalities, management options, and outcomes of various aortic conditions, including acute aortic dissection (and its variants intramural hematoma and penetrating aortic ulcers) and thoracic aortic aneurysms. Literature searches of the PubMed database were conducted using the following keywords: aortic dissection, intramural hematoma, aortic ulcer, and thoracic aortic aneurysm. Retrospective and prospective studies performed within the past 20 years were included in the review; however, most data are from the past 15 years. PMID:19411444

  7. Tooth enamel hypoplasia in PHACE syndrome.

    PubMed

    Chiu, Yvonne E; Siegel, Dawn H; Drolet, Beth A; Hodgson, Brian D

    2014-01-01

    Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age.

  8. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

    PubMed

    Aykut, A; Cogulu, O; Ekmekci, A Y; Ozkinay, F

    2008-01-01

    Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.

  9. A rare but potentially lethal case of tuberculous aortic aneurysm presenting with repeated attacks of abdominal pain.

    PubMed

    Hung, Yao-Min; Chang, Yun-Te; Wang, Jyh-Seng; Wang, Paul Yung-Pou; Wann, Shue-Ren

    2015-01-01

    Tuberculous aortic aneurysm is an extremely rare disease with a high mortality rate. The clinical features of this condition are highly variable, ranging from asymptomatic with or without constitutional symptoms, abdominal pain to frank rupture, bleeding and shock. We herein report the case of a 56-year-old man with a large tuberculous mycotic aneurysm in the abdominal aorta with an initial presentation of repeated attacks of abdominal pain lasting for several months. Due to the vague nature of the initial symptoms, tuberculous aortic aneurysms may take several months to diagnose. This case highlights the importance of having a high index of suspicion and providing timely surgery for this rare but potentially lethal disease.

  10. Aplasia and hypoplasia of the maxillary sinus: A case series

    PubMed Central

    Jafari-Pozve, Nasim; Sheikhi, Mahnaz; Ataie-Khorasgani, Masoud; Jafari-Pozve, Shahram

    2014-01-01

    Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of the sinus. Computed tomography (CT) and also cone beam computed tomography (CBCT) are the proper modalities to detect these conditions. In the present study, CBCT findings of three cases with maxillary sinus hypoplasia and aplasia are reported. PMID:25426156

  11. Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation

    PubMed Central

    Valente, Acrisio Sales; Alencar, Polyanna; Santos, Alana Neiva; Lobo, Roberto Augusto de Mesquita; de Mesquita, Fernando Antônio; Guimarães, Aloyra Guedis

    2013-01-01

    The supravalvular aortic stenosis is a rare congenital heart defect being very uncommon in adults. We present a case of supravalvular aortic stenosis in adult associated with anomalies of the aortic arch vessels and aortic regurgitation, which was submitted to aortic valve replacement and arterioplasty of the ascending aorta with a good postoperative course. PMID:24598962

  12. Endovascular therapy for overcoming challenges presented with blunt abdominal aortic injury.

    PubMed

    Gilani, Ramyar; Saucedo-Crespo, Hector; Scott, Bradford G; Tsai, Peter I; Wall, Metthew J; Mattox, Kenneth L

    2012-05-01

    Blunt abdominal aortic injury (BAAI) is a rare and lethal injury requiring surgical management. Injury patterns can be complex and surgical strategy should accommodate specific case circumstances. Endovascular solutions appear appropriate and preferred in certain cases of BAAI, which, however, may not be applicable due to device limitations in regard to patient anatomy and limited operating room capability. However, endovascular therapy can be pursued with limited fluoroscopy capability and consumable availability providing a solution that is expeditious and effective for select cases of BAAI.

  13. Review of numerical methods for simulation of the aortic root: Present and future directions

    NASA Astrophysics Data System (ADS)

    Mohammadi, Hossein; Cartier, Raymond; Mongrain, Rosaire

    2016-05-01

    Heart valvular disease is still one of the main causes of mortality and morbidity in develop countries. Numerical modeling has gained considerable attention in studying hemodynamic conditions associated with valve abnormalities. Simulating the large displacement of the valve in the course of the cardiac cycle needs a well-suited numerical method to capture the natural biomechanical phenomena which happens in the valve. The paper aims to review the principal progress of the numerical approaches for studying the hemodynamic of the aortic valve. In addition, the future directions of the current approaches as well as their potential clinical applications are discussed.

  14. hypertensive intracranial bleed due to mid aortic syndrome.

    PubMed

    Poovazhagi, Varadarajan; Pauline, Leema; Balakrishnan, N

    2014-03-01

    The authors describe an 11-y-old child with intracranial bleed due to malignant hypertension. Child presented with hypertension, right hemiparesis, feeble femoral pulses and lower limb blood pressure less than the upper limb. CT angiogram revealed narrowing of the abdominal aorta with thinned out left renal artery and hypoplasia of the left kidney. A diagnosis of Mid aortic syndrome was arrived at. CT brain revealed left ganglio capsular bleed. Child was treated with antihypertensives and steriods in view of suspected Takayasu arteritis. Child recovered with minimal hemiparesis and is being followed up.

  15. Ossification of the posterior atlantoaxial membrane associated with atlas hypoplasia

    PubMed Central

    Meng, Yichen; Zhou, Dongxiao; Gao, Rui; Ma, Jun; Wang, Ce; Zhou, Xuhui

    2016-01-01

    Abstract Rationale: Hypoplasia with an intact posterior arch of the atlas and ossification of the posterior atlantoaxial membrane (PAAM) are individually rare. Patient concerns: The patient presented with a 6-month history of progressive weakness and paresthesia of his lower extremities. Diagnoses: Cervical myelopathy resulting from atlas hypoplasia and ossification of the posterior atlantoaxial membrane. Interventions: Laminectomy of the atlas with duroplasty. Outcomes: Preoperative symptoms were alleviated. Lessons: In most reported cases, either atlas hypoplasia or ossification of the PAAM is responsible for patients’ myelopathy. The case illustrated here, to the best of our knowledge, is the first one with coexistent atlas hypoplasia and ossification of the PAAM. And laminectomy of the atlas with duroplasty provided satisfied outcome. PMID:27902623

  16. On the classification of congenital thumb hypoplasia.

    PubMed

    Tonkin, M A

    2014-11-01

    In 1937, Müller introduced the concept of a teratological sequence of thumb hypoplasia with increasing severity from mild deficiency, through severe deficiency, to thumb absence. Blauth subsequently detailed five specific grades. In 1992, Manske and McCarroll altered Blauth's classification such that Grade 3 was sub-divided into Grades 3A and 3B, according to a presence or absence of the proximal metacarpal. Buck-Gramcko added a Grade 3C in which there was only a remnant metacarpal head. This article investigates their publications and those of others to identify 'who said what' and clarify the definitions of grades of thumb hypoplasia. A modification of Blauth's classification is proposed, which retains the integrity of the concept of Müller and the skeletal and soft tissue grading of Blauth, but which also incorporates the disparate anomalies that may present in Grades 2 and 3 hypoplastic thumbs.

  17. Unusual Congenital Aortic Anomaly with Rare Common Celiamesenteric Trunk Variation: MR Angiography and Digital Substraction Angiography Findings

    SciTech Connect

    Tosun, Ozgur Sanlidilek, Umman; Cetin, Huseyin; Ozdemir, Ozcan; Kurt, Aydin; Sakarya, Mehmet Emin; Tas, Ismet

    2007-09-15

    Magnetic resonance angiography and digital substraction angiography (DSA) findings in a case with a rare congenital thoracoabdominal aortic hypoplasia and common celiamesenteric trunk variation with occlusion of infrarenal abdominal aorta are described here. To our knowledge, this aortic anomaly has not been previously described in the English literature. DSA is the optimum imaging modality for determination of aortic hypoplasia, associated vascular malformations, collateral vessels, and direction of flow within vessels.

  18. Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia.

    PubMed

    Fink, Cassandra; Borchert, Mark; Simon, Carrie Zaslow; Saper, Clifford

    2015-02-01

    This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children's Hospital Los Angeles presenting with gelastic seizures were included. The clinical and pathology characteristics include hypothalamic dysgenesis and dysfunction, but no hamartomas. Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures.

  19. Imaging a boa constrictor--the incomplete double aortic arch syndrome.

    PubMed

    Narayan, Rajeev L; Kanwar, Anubhav; Jacobi, Adam; Sanz, Javier

    2012-11-01

    Incomplete double aortic arch is a rare anomaly resulting from atresia rather than complete involution in the distal left arch resulting in a non-patent fibrous cord between the left arch and descending thoracic aorta. This anatomic anomaly may cause symptomatic vascular rings, leading to stridor, wheezing, or dysphagia, requiring surgical transection of the fibrous cord. Herein, we describe an asymptomatic 59 year-old man presenting for contrast-enhanced CT angiography to assess cardiac anatomy prior to radiofrequency ablation, who was incidentally found to have an incomplete double aortic arch with hypoplasia of the left arch segment and an aortic diverticulum. Recognition of this abnormality by imaging is important to inform both corrective surgery in symptomatic patients, as well as assist in the planning of percutaneous coronary and vascular interventions.

  20. [A 2-month-old child with complex tracheal hypoplasia].

    PubMed

    De Cloedt, L; Papadopoulos, J; Corouge, P; Khalil, T; Van Laer, P

    2013-12-01

    We describe the case of a 2-month-old child with complex tracheal hypoplasia with bilateral bronchial hypoplasia and left pulmonary hypoplasia. Tracheal hypoplasia is complex when it is associated with critical stenosis, cricoid stenosis, bronchial hypoplasia, tracheal bronchus, or esophageal atresia with severe tracheomalacia. Slide tracheoplasty is the gold standard treatment for the complex tracheal hypoplasia.

  1. Breast hypoplasia and breastfeeding: a case history.

    PubMed

    Thorley, Virginia

    2005-07-01

    Hypoplasia, or glandular insufficiency, of the breasts is an infrequent cause of breastfeeding failure or infant failure to thrive. Early evaluation of the breasts of early identification of infant indicators can enable mothers to breastfeed while providing appropriate supplementation to facilitate satisfactory hydration and growth. A case report is presented of a highly motivated mother with minimal breast tissue who was able to soothe four of her infants at her breasts, supplying some breastmilk, while providing the bulk of their nutritional requirements by other means. At the time of writing she is tandem breastfeeding as well as providing artificial milk by bottle.

  2. Chest wall hypoplasia--principles and treatment.

    PubMed

    Mayer, Oscar Henry

    2015-01-01

    The chest is a dynamic structure. For normal movement it relies on a coordinated movement of the multiple bones, joints and muscles of the respiratory system. While muscle weakness can have clear impact on respiration by decreasing respiratory motion, so can conditions that cause chest wall hypoplasia and produce an immobile chest wall. These conditions, such as Jarcho-Levin and Jeune syndrome, present significantly different challenges than those faced with early onset scoliosis in which chest wall mechanics and thoracic volume may be much closer to normal. Because of this difference more aggressive approaches to clinical and surgical management are necessary.

  3. Severe diffuse hypoplasia of the aorta associated with multiple vascular abnormalities.

    PubMed

    Grebeldinger, Slobodan P; Balj, Svetlana S; Adic, Oto

    2011-06-01

    Hypoplasia of the thoracic and abdominal aorta is an extremely rare vascular pathology. The most common clinical manifestation is severe uncontrolled hypertension in adolescents and young adults. Medical treatment alone can decrease blood pressure, but often very high doses of antihypertensive drugs are needed. When hypertension is refractory to the antihypertensive medications, surgical revascularization is considered as the treatment of choice. We report the case of a severe and diffuse hypoplasia of the aorta, beginning with the aortic isthmus, to the aortic bifurcation, associated with an aberrant celiac trunk and superior mesenteric artery, and with other multiple vascular abnormalities. Unlikely, the only manifestation of this extensive vascular malformation was medicamentously controllable hypertension. To our knowledge, this severe vascular anomaly, with such a minimal clinical manifestation, has not been previously described in the English literature.

  4. Optic nerve hypoplasia in children.

    PubMed Central

    Zeki, S. M.; Dutton, G. N.

    1990-01-01

    Optic nerve hypoplasia (ONH) is characterised by a diminished number of optic nerve fibres in the optic nerve(s) and until recently was thought to be rare. It may be associated with a wide range of other congenital abnormalities. Its pathology, clinical features, and the conditions associated with it are reviewed. Neuroendocrine disorders should be actively sought in any infant or child with bilateral ONH. Early recognition of the disorder may in some cases be life saving. Images PMID:2191713

  5. Aerococcus christensenii native aortic valve subacute bacterial endocarditis (SBE) presenting as culture negative endocarditis (CNE) mimicking marantic endocarditis.

    PubMed

    Jose, Anita; Cunha, Burke A; Klein, Natalie C; Schoch, Paul E

    2014-01-01

    This is a case report of an adult who presented with apparent culture negative endocarditis (CNE) thought to be marantic endocarditis due to a B-cell lymphoproliferative disorder. This was a most perplexing case and was eventually diagnosed as subacute bacterial endocarditis (SBE) due to a rare slow growing organism. Against the diagnosis of SBE was the lack of fever, hepatomegaly, peripheral manifestations and microscopic hematuria. Also, against a diagnosis of SBE was another explanation for the patient's abnormal findings, e.g., elevated ferritin levels, elevated α1/α2 globulins on SPEP, an elevated alkaline phosphatase, flow cytometry showing B-lymphocytes expressing CD5, and a bone lesion in the right iliac. Findings compatible with both SBE and marantic endocarditis due to a B-cell lymphoproliferative disorder included an elevated ESR, and splenomegaly. Blood cultures eventually became positive during hospitalization. We report a case of native aortic valve (AV) subacute bacterial endocarditis (SBE) due to Aerococcus christensenii mimicking marantic endocarditis due to a B-cell lymphoproliferative disorder. To the best of our knowledge, this is the first reported case of native AV SBE due to A. christensenii presenting as marantic endocarditis.

  6. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

    PubMed

    Abumansour, Iman S; Wrogemann, Jens; Chudley, Albert E; Chodirker, Bernard N; Salman, Michael S

    2014-06-01

    Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

  7. Association of pulmonary artery agenesis and hypoplasia of the lung.

    PubMed

    Vitiello, Renato; Pisanti, Chiara; Pisanti, Antonello; Silberbach, Michael

    2006-09-01

    Pulmonary artery agenesis and hypoplasia of the homolateral lung occasionally occurs as an isolated lesion, but more often has associated congenital cardiac anomalies. We present a case where pulmonary artery agenesis was the sole lesion in an asymptomatic child. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. Echocardiography is the best tool to establish the diagnosis. In our opinion, invasive procedures, such as cardiac catheterization, may be postponed if there is no echocardiographic evidence of pulmonary hypertension.

  8. Persistent right aortic arch and cribiform plate aplasia in a northern elephant seal (Mirounga angustirostris).

    PubMed

    Maclean, Robert A; Imai, Denise; Dold, Christopher; Haulena, Martin; Gulland, Frances M D

    2008-04-01

    A female weanling northern elephant seal (Mirounga angustirostris) presented to The Marine Mammal Center in Sausalito, California, USA, in poor body condition. An esophageal obstruction was diagnosed by contrast radiography and esophagoscopy, but despite extensive diagnostics and supportive care, the seal died 6 days later. On postmortem examination, the right aortic arch was persistent, forming a vascular ring anomaly with a patent ductus arteriosus that compressed the distal esophagus. Aplasia of the right cribiform plate and hypoplasia of the right olfactory nerve was also identified. A review of necropsy reports from January 1988 to December 2003 revealed 16 severe congenital anomalies in 454 juvenile northern elephant seals that stranded in northern California.

  9. Aortic endothelium detection using spectral estimation optical coherence tomography (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Liu, Xinyu; Chen, Si; Luo, Yuemei; Bo, En; Wang, Nanshuo; Yu, Xiaojun; Liu, Linbo

    2016-02-01

    The evaluation of the endothelium coverage on the vessel wall is most wanted by cardiologists. Arterial endothelial cells play a crucial role in keeping low-density lipoprotein and leukocytes from entering into the intima. The damage of endothelial cells is considered as the first step of atherosclerosis development and the presence of endothelial cells is an indicator of arterial healing after stent implantation. Intravascular OCT (IVOCT) is the highest-resolution coronary imaging modality, but it is still limited by an axial resolution of 10-15 µm. This limitation in axial resolution hinders our ability to visualize cellular level details associated with coronary atherosclerosis. Spectral estimation optical coherence tomography (SE-OCT) uses modern spectral estimation techniques and may help reveal the microstructures underlying the resolution limit. In this presentation, we conduct an ex vivo study using SE-OCT to image the endothelium cells on the fresh swine aorta. We find that in OCT images with an axial resolution of 10 µm, we may gain the visibility of individual endothelium cells by applying the autoregressive spectral estimation techniques to enhance the axial resolution. We believe the SE-OCT can provide a potential to evaluate the coverage of endothelium cells using current IVOCT with a 10-µm axial resolution.

  10. [Optic nerve hypoplasia and septo-optic dysplasia].

    PubMed

    Zimmermann-Paiz, Martín A; Fang-Sung, Jen Wen

    2009-12-01

    The septo-optic dysplasia or De Morsier syndrome is an unusual disorder of the embryonic development. It consists of hypoplasia in one or both optic nerves, midline cerebral malformations and hypothalamic-pituitary dysfunction, which is inconstant. The present work describes the findings of 9 patients with septo-optic dysplasia.

  11. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    MedlinePlus

    ... X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Enable Javascript to view the expand/collapse ... Open All Close All Description X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. ...

  12. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia

    MedlinePlus

    ... Conditions VLDLR-associated cerebellar hypoplasia VLDLR-associated cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description VLDLR -associated cerebellar hypoplasia is an inherited condition that affects the development ...

  13. Successful transfemoral aortic valve implantation through aortic stent graft after endovascular repair of abdominal aortic aneurysm.

    PubMed

    Kawashima, Hideyuki; Watanabe, Yusuke; Kozuma, Ken

    2017-04-01

    The patient was a 91-year-old woman presenting with severe aortic valve stenosis. Pre-procedural computed tomography scan revealed a 45-mm abdominal aortic aneurysm (AAA). Transfemoral transcatheter aortic valve implantation (TF-TAVI) was performed after endovascular aortic repair (EVAR) of the AAA. The 23-mm Edwards Sapien XT system passed through the aortic stent graft smoothly. This is the first case report showing that successful TF-TAVI can be performed through a prior abdominal aortic stent graft. TF-TAVI after EVAR of AAA is a feasible option for patients with extremely poor access.

  14. Gender differences in abdominal aortic aneurysm presentation, repair, and mortality in the Vascular Study Group of New England

    PubMed Central

    Lo, Ruby C.; Bensley, Rodney P.; Hamdan, Allen D.; Wyers, Mark; Adams, Julie E.; Schermerhorn, Marc L.

    2013-01-01

    Objectives Prior studies of gender differences in AAA repair suggest there may be differences in presentation, suitability for EVAR, and outcomes between men and women. Methods We used the Vascular Study Group of New England database to identify all patients undergoing EVAR or open AAA repair (OAR). We analyzed demographics, comorbidities, and procedural, and perioperative data. Results were compared using Fisher’s exact test and student’s t-test. Multivariable logistic regression and Cox proportional hazards modeling was performed to identify predictors of mortality. Results We identified 4,026 patients who underwent AAA repair (78% male, 54% EVAR). Women were less likely than men to undergo EVAR for intact aneurysms (50% vs. 60% of intact AAA repairs of, P<.001) but not for ruptured aneurysms (26% vs. 20%, P=.23). Women were older (median age 75 vs. 72 years for intact, P<.001; 78 vs. 73 years for rupture, P<.001) with smaller aortic diameters (57 vs. 59mm for elective, P<.001; 71 vs. 79mm for rupture, P<.001). Arterial injury was more common in women (5.4% vs. 2.7%, P=0.013) among patients undergoing EVAR for intact aneurysms and women stayed in the hospital longer (4.3 vs. 2.7 days, P=.018) and had a lower odds of being discharged home, even after adjusting for age.. Among patients undergoing open repair for intact aneurysms, women more frequently experienced leg ischemia/emboli (4% vs. 1%, P=.001) and bowel ischemia (5% vs. 3%, P=.044). Women had higher 30-day mortality after OAR for both intact (4% vs. 2%, P=.03) and rupture (48% vs. 34%, P=.03) repairs. However, 30-day mortality after EVAR was similar for both intact (1% in men vs. 1% in women, P=.57) and rupture (29% in men vs. 27% in women, P=1.00) repairs. Late survival was worse in women than men only for patients undergoing open repair of ruptured aneurysms (HR 1.8, 95% CI 1.0–3.1, P=.04). After controlling for age, type of repair, urgency at presentation (i.e. elective/intact vs. ruptured

  15. Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

    PubMed

    Garcia, M Lourdes; Ty, Edna B; Taban, Mehryar; David Rothner, A; Rogers, Douglas; Traboulsi, Elias I

    2006-11-01

    To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies were obtained in 65 cases. Visual acuity and associated ocular, neurologic, endocrine, systemic, and structural brain abnormalities were recorded. Seventy-five percent had bilateral optic nerve hypoplasia. Conditions previously associated with optic nerve hypoplasia and present in our patients include premature birth in 21%, fetal alcohol syndrome in 9%, maternal diabetes in 6%, and endocrine abnormalities in 6%. Developmental delay was present in 32%, cerebral palsy in 13%, and seizures in 12%. Of those imaged, 60% had an abnormal study. Neuroimaging showed abnormalities in ventricles or white- or gray-matter development in 29 patients, septo-optic dysplasia in 10, hydrocephalus in 10, and corpus callosum abnormalities in 8. There was an associated clinical neurologic abnormality in 57% of patients with bilateral optic nerve hypoplasia and in 32% of patients with unilateral optic nerve hypoplasia. Patients with unilateral and bilateral optic nerve hypoplasia frequently have a wide range and common occurrence of concomitant neurologic, endocrine, and systemic abnormalities.

  16. Surgical repair of middle aortic syndrome in a three-year-old patient.

    PubMed

    Ayik, Fatih; Engin, Cagatay; Ertugay, Serkan; Atay, Yüksel

    2011-11-01

    Middle aortic syndrome is a rare variation of aortic coarctation that is localized to the distal thoracic and abdominal aorta, and can involve the visceral and renal arteries. Irreversible organ damage and end-stage congestive heart failure may be the possible harmful complications of this disease in untreated patients. We report a three-year-old patient with diffuse thoracic and abdominal aorta hypoplasia treated with a thoracic to abdominal aortic bypass graft. 

  17. POST-TRAUMATIC APICAL LEFT VENTRICULAR ANEURYSM IN A PATIENT WITH LEFT VENTRICULAR APICAL-ABDOMINAL AORTIC CONDUIT: CASE PRESENTATION

    PubMed Central

    Ugorji, Clement C.; Cooley, Denton A.; Norman, John C.

    1979-01-01

    A patient with a small aortic annulus had an apico-aortic conduit implanted for aortic stenosis approximately three years before being admitted to our institution. Four months after sustaining a steering wheel injury to the chest, he developed chest pain and palpitations. X-ray films and left ventriculograms revealed a large apical aneurysm of unknown duration. At surgery, it was noted that the proximal portion of the conduit had been sewn directly to the myocardium without the use of a rigid or soft apical outlet prosthesis incorporating a sewing ring. The aneurysm was resected along with a small proximal segment of the conduit graft. A polished Pyrolite® rigid inlet tube with a sewing ring and graft extension was inserted into the residual left ventricular apex, and continuity was reestablished with the abdominal segment of the conduit. It is postulated that the aneurysm was caused by either the direct anastomosis of the fabric graft to the apical myocardium at the original operation (with subsequent disruption and aneurysm formation prior to the steering wheel injury), or was the result of fixation of the heart at the diaphragm by the conduit, with increased vulnerability to deceleration injury at the direct left ventricular apex myocardium-fabric graft site. Images PMID:15216296

  18. Congenital Horner Syndrome with Heterochromia Iridis Associated with Ipsilateral Internal Carotid Artery Hypoplasia

    PubMed Central

    Coulier, Julie; Rommel, Denis; Boschi, Antonella

    2015-01-01

    Background Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. Case Report We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by computed tomography (CT). Conclusions CT evaluation of the skull base is essential to establish this diagnosis and distinguish aplasia from agenesis/hypoplasia (by the absence or hypoplasia of the carotid canal) or from acquired ICA obstruction as demonstrated by angiographic CT. PMID:25749818

  19. [Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].

    PubMed

    Folligan, K; Roume, J; Razavi, F; Sepaniak, S; Bouvier, R; Morel, Y; Trouillas, J

    2011-03-01

    Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.

  20. Pentacuspid aortic valve diagnosed by transoesophageal echocardiography

    PubMed Central

    Cemri, M; Cengel, A; Timurkaynak, T

    2000-01-01

    Congenital aortic valve anomalies are quite a rare finding in echocardiographic examinations. A case of a 19 year old man with a pentacuspid aortic valve without aortic stenosis and regurgitation, detected by transoesophageal echocardiography, is presented.


Keywords: pentacuspid aortic valve; echocardiography PMID:10995427

  1. Focal dermal hypoplasia: a case report and literature review.

    PubMed

    Murakami, Christiana; de Oliveira Lira Ortega, Adriana; Guimarães, Antônio Sérgio; Gonçalves-Bittar, Daniela; Bönecker, Marcelo; Ciamponi, Ana Lídia

    2011-08-01

    Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is an autosomal dominant disease affecting tissues derived from the ectoderm and mesoderm. Knowledge and early diagnosis of the craniofacial alterations commonly found in patients with FDH provide oral health care professionals with effective preventive and therapeutic tools. This article aims to review the craniofacial characteristics present in FDH and the main systemic manifestations that have implications for dental management, while presenting a new case of the syndrome with novel oral findings.

  2. Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis

    PubMed Central

    Pasman, Eric A; Heifert, Theresa A; Nylund, Cade M

    2017-01-01

    Focal dermal hypoplasia (FDH) is a rare disorder of the mesodermal and ectodermal tissues. Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia. She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis. She was successfully treated with argon plasma coagulation and ingested fluticasone propionate, which has not been described previously in a child.

  3. Abrasion, erosion, and abfraction combined with linear enamel hypoplasia: a case report.

    PubMed

    Boston, D W; al-bargi, H; Bogert, M

    1999-10-01

    Linear enamel hypoplasia is a developmental disturbance of enamel resulting in clinically visible horizontal defects in enamel that are present on eruption of the tooth. Nondevelopmental lesions of the hard tissues of the tooth, including carious, abrasion, erosion, attrition, and abfraction lesions, require varying amounts of time after tooth eruption to develop. Because linear enamel hypoplasia lesions are present on eruption and are exposed to the factors responsible for abrasion, erosion, and abfraction, nondevelopmental lesions could occur within them in any combination. This report describes a patient with multiple teeth with linear enamel hypoplasia lesions containing nondevelopmental defects as well as nondevelopmental defects that occurred separately. Severe pain and a unique lesion morphology were associated with the linear enamel hypoplasia defects. Affected teeth were extracted because of advanced periodontitis and were sectioned to determine the nature of the enamel and dentin lesions.

  4. Undiagnosed DiGeorge syndrome presenting in middle age with an aortic root aneurysm and chronic dissection.

    PubMed

    King, Christopher

    2015-09-21

    DiGeorge syndrome is the second commonest cause of congenital heart disease after trisomy 21. This case illustrates an undiagnosed case of DiGeorge syndrome for a patient who had a ventricular septal defect repair in childhood. He survived well into his adult years, and was only diagnosed post mortem after an unsuccessful repair of an aortic root aneurysm. The case serves as an example supporting genetic screening of children with congenital heart disease, and lifelong cardiology follow-up for patients with a confirmed genotype.

  5. Unilateral Optic Nerve Hypoplasia with Contralateral Optic Pathway Hypoplasia: A Case Report.

    PubMed

    Nishi, Tomo; Yukawa, Eiichi; Taoka, Toshiaki; Ogata, Nahoko

    2013-01-01

    Optic nerve hypoplasia is diagnosed by the ophthalmoscopic appearance of the fundus of the eye and by standard magnetic resonance imaging of the brain. The ability to study eyes with optic nerve hypoplasia by magnetic resonance diffusion tensor imaging has improved the evaluation of the optic pathways. The authors report a case of unilateral optic nerve hypoplasia with hypoplasia of the contralateral optic pathway. The entire visual pathway of this patient was examined by magnetic resonance and magnetic resonance diffusion tensor imaging. The images show a decrease of the volume of the optic radiation contralateral to the optic nerve abnormality and also pre- and post-chiasmal abnormalities.

  6. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    PubMed Central

    Solanki, Shailesh; Babu, M. Narendra; Gowrishankar; Ramesh, S.

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  7. Aesthetic approach for anterior teeth with enamel hypoplasia

    PubMed Central

    Martos, Josué; Gewehr, Andréa; Paim, Emanuele

    2012-01-01

    Enamel hypoplasia is a developmental defect of the enamel that is produced by a disturbance in the formation of the organic enamel matrix, clinically visible as enamel defects. Disorders that occur during the stages of enamel development and maturation reduce the amount or thickness of the enamel, resulting in white spots, tiny grooves, depressions and fissures in the enamel surface. The complexity and intensity of the dental deformity lesions will conduct the ideal treatment-associating conservative techniques. This article presents a case report of a restorative treatment of enamel hypoplasia using hybrid composite resin to mask color alteration and enamel defects. An aesthetic appearance that respects the tooth polychromatic and the self-esteem of the patient can be achieved with this approach. PMID:22629075

  8. Hypoplastic area method for analyzing dental enamel hypoplasia.

    PubMed

    Ensor, B E; Irish, J D

    1995-12-01

    Most analyses of dental enamel hypoplasia compare frequencies of disturbed tooth types, which do not account for variability in the area of affected enamel. An alternate methodology, hypoplastic area, is presented here that accounts for this variability by combining acute and continuous enamel hypoplasia into an interval-level variable. The method compares samples based on individuals, by multiple tooth type variables, or by a single value rather than by tooth types. Use of the hypoplastic area method is illustrated by analyzing human skeletal dentitions in three archaeological samples: Meroitic Nubians from Semna South, Sudan; Anasazi from Navajo Reservoir, New Mexico; and Mogollon from Grasshopper Pueblo, Arizona. Both univariate and multivariate statistical tests are employed to assess variation in defects between individuals and samples. By incorporating measurements of continuous defects, the hypoplastic area method provides information beyond that of frequency data in comparing levels of stress. Flexibility of the method is also discussed.

  9. Vertically transmitted hypoplasia of the abdominal wall musculature.

    PubMed

    Chan, Yuin-Chew; Bird, Lynne M

    2004-01-01

    The prune belly syndrome (OMIM 100100) is an association of bladder dilation with hypoplasia of the abdominal wall muscles. This malformation sequence is due to early urethral obstruction. We report a family with abdominal wall muscular hypoplasia as an isolated defect, not associated with the urethral obstruction sequence. The proband is a q3-year-old male who presented with abdominal wall laxity and severe constipation. His mother, maternal grandmother and younger brother had varying degrees of abdominal wall muscular deficiency and constipation. His mother's condition was aggravated by her 2 pregnancies. This family shows vertical transmission (compatible with autosomal dominant or mitochondrial inheritance) of the abdominal phenotype of prune belly sequence without any evidence of urinary tract or renal pathology. The expression in the sons may remain incomplete because abdominal distention due to pregnancy will not occur.

  10. [Supravalvular aortic stenosis. Report of clinical findings in 5 patients].

    PubMed

    Dumont, C R; Gil, M; Mispireta, J; Attié, F

    1975-01-01

    Five cases of supravalvular aortic stenosis (SAS) diagnosed by heart catheterization were studied in the Instituto Nacional de Cardiologia of Mexico. The clinic and laboratory data of interest of the differential diagnosis with other forms of obstruction of the left ventricle as follows: 1. Three cases had mental retardation and "elfin" face (SAS with specific psychophysical syndrome), the rest had a normal psyco-physical state without family antecedents (sporadic SAS). 2. The aortic focus was the epicenter of the expulsion murmur. In the phoncarodiographic study, two patients had protosistolic click and another had, in addition, a descending protodiastolic murmur (Int. I-IV). In the radial sphigmograms, one case had an amplitude difference in favor of the right side. 3. All had serum calcium figures within normal limits. 4. A chromosomatic analysis of preperipheral blood was performed on two patients, with normal results. 5. In the electrocardiogram, one case had right ventricular enlargement secondary to pulmonary arterial hypertension, due to stenosis of the main pulmonary arteries. 6. The radiologic study did not show dilatation of the ascending aorta and aortic bud in any case. 7. The angiocardiography showed: stenosis directly above the Valsalva sinuses; absence of dilatation or hypoplasia of the aorta above the stenosis; and the coronary network, indirectly opaqued, showed no abnormalities. One case had aortic coarctation and abnormal implantation of the right sublaviar artery, and another, stenosis of the right and left branch of its origen of the truncus of the pulmonary artery. The literature up to the present is reviewed and an anatomo-functional classification is proposed with the objective of including new varieties.

  11. Aortic Valve Disease

    MedlinePlus

    ... Ventricle Normal Heart Select Disease To Learn More Aortic Stenosis Aortic Insufficiency Aorta The aorta is the main ... the rest of your body. Aortic Valve In aortic stenosis, the aortic valve becomes narrowed and does not ...

  12. [Pollicization of the Index Finger in Patients with Congenital Thumb Hypoplasia].

    PubMed

    Moser, U; Singer, G; Schmidt, B; Spendel, S

    2016-08-01

    Congenital thumb hypoplasia is a radial deficiency occurring in the form of sole dysplasia or in combination with additional aberrations. Thumb hypoplasia can be categorised into 5 grades ranging from mild deformity to complete absence of the thumb. Thumb hypoplasia leads to a disturbance of grip function depending on its severity. The choice of treatment is based on the degree of thumb hypoplasia. For hypoplasia greater than grade 3B, restoration of the thumb using pollicization of the index finger is the treatment of choice. For this purpose the index finger is transformed into a thumb and is transposed to the position of the thumb with vessels and nerves being retained. The skeleton has to be shortened, rotated and abducted, followed by reconstruction of the muscles in line with the function of the new thumb. This procedure facilitates a restoration with maximal stability, sensitivity and mobility. In cases of isolated thumb hypoplasia, pollicization of the index finger yields good results persisting into adulthood. If associated aberrations are present, the outcome is less predictable because of the preexistent stiffness of the index finger. Nevertheless, associated aberrations do not represent a contraindication for index finger pollicization.

  13. Neuropathologic features of pontocerebellar hypoplasia type 6.

    PubMed

    Joseph, Jeffrey T; Innes, A Micheil; Smith, Amanda C; Vanstone, Megan R; Schwartzentruber, Jeremy A; Bulman, Dennis E; Majewski, Jacek; Daza, Ray A; Hevner, Robert F; Michaud, Jean; Boycott, Kym M

    2014-11-01

    Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function of the brainstem and cerebellum. The rarity and genetic heterogeneity of this group of disorders can make molecular diagnosis challenging. We report 3 siblings who were born to nonconsanguineous parents, were hypotonic at birth, developed seizures, had repeated apneic spells, and died within 2 months of life. Neuroimaging showed that all had profound cerebellar hypoplasia and simplified cortical gyration. Genetic analysis by whole-exome sequencing demonstrated compound heterozygous mutations in the mitochondrial arginyl transfer RNA synthetase gene RARS2, indicating that the children had pontocerebellar hypoplasia type 6. Autopsies on the younger twin siblings revealed small and immature cerebella at an approximate developmental age of less than 18 weeks. The basis pontis showed regressive changes, and the medulla had marked inferior olivary hypoplasia. The brains of both twins were microencephalic and had simplified gyri; cortices were immature, and deep white matter had extensive astrocytosis. The findings suggest a near-normal embryologic period followed by midgestation developmental slowing or cessation and later regression in select anatomic regions. This is the first detailed description of neuropathologic findings associated with pontocerebellar hypoplasia type 6 and demonstrates the profound effects of RARS2 disruption during early neurodevelopment.

  14. Clinical characteristics of high grade foveal hypoplasia.

    PubMed

    Park, Kyung-Ah; Oh, Sei Yeul

    2013-02-01

    To report clinical characteristics of high grade foveal hypoplasia. Patients with foveal hypoplasia of grade 3 or 4 on spectral domain optical coherence tomography according to a previously published scheme were enrolled. All patients underwent a full ophthalmologic assessment including visual acuity testing, slit lamp biomicroscopy, fundus examination, and evaluation of ocular alignment. The underlying causes of foveal hypoplasia were identified as albinism in five patients and aniridia in six patients. The mean logMAR visual acuity was 0.57 ± 0.24 (range 0.22-1.00) in the right eyes and 0.58 ± 0.21 (range 0.30-1.00) in the left eyes. On fundus examination in patients with albinism, two patients showed marked transparency, one patient showed moderate transparency, and two patients showed minimal transparency. Among six patients with aniridia, five patients showed normal macular pigmentation without macular reflex and one patient showed decreased macular pigmentation with no macular reflex. Patients with high grade macular hypoplasia tended to have poor visual acuities; however, the range of visual acuity was quite variable. Other factors associated with underlying disease could be the reason of this variability. Therefore, careful consideration should be given when assessing visual prognosis in foveal hypoplasia using optical coherence tomography.

  15. Selective cerebro-myocardial perfusion in complex congenital aortic arch pathology: a novel technique.

    PubMed

    De Rita, Fabrizio; Lucchese, Gianluca; Barozzi, Luca; Menon, Tiziano; Faggian, Giuseppe; Mazzucco, Alessandro; Luciani, Giovanni Battista

    2011-11-01

    Simultaneous cerebro-myocardial perfusion has been described in neonatal and infant arch surgery, suggesting a reduction in cardiac morbidity. Here reported is a novel technique for selective cerebral perfusion combined with controlled and independent myocardial perfusion during surgery for complex or recurrent aortic arch lesions. From April 2008 to April 2011, 10 patients with arch pathology underwent surgery (two hypoplastic left heart syndrome [HLHS], four recurrent arch obstruction, two aortic arch hypoplasia + ventricular septal defect [VSD], one single ventricle + transposition of the great arteries + arch hypoplasia, one interrupted aortic arch type B + VSD). Median age was 63 days (6 days-36 years) and median weight 4.0 kg (1.6-52). Via midline sternotomy, an arterial cannula (6 or 8 Fr for infants) was directly inserted into the innominate artery or through a polytetrafluoroethylene (PTFE) graft (for neonates <2.0 kg). A cardioplegia delivery system was inserted into the aortic root. Under moderate hypothermia, ascending and descending aorta were cross-clamped, and "beating heart and brain" aortic arch repair was performed. Arch repair was composed of patch augmentation in five, end-to-side anastomosis in three, and replacement in two patients. Average cardiopulmonary bypass time was 163 ± 68 min (71-310). In two patients only (one HLHS, one complex single ventricle), a period of cardiac arrest was required to complete intracardiac repair. In such cases, antegrade blood cardioplegia was delivered directly via the same catheter used for selective myocardial perfusion. Average time of splanchnic ischemia during cerebro-myocardial perfusion was 39 ± 18 min (17-69). Weaning from cardiopulmonary bypass was achieved without inotropic support in three and with low dose in seven patients. One patient required veno-arterial extracorporeal membrane oxygenation. Four patients, body weight <3.0 kg, needed delayed sternal closure. No neurologic dysfunction was noted

  16. [New aspects in aortic valve disease].

    PubMed

    Tornos, P

    2001-01-01

    Renewed interest for aortic valve disease has evolved in recent years. Aortic valve replacement has become the second most frequent cause of cardiac surgery, following coronary bypass surgery. In addition, the etiologic and physiopathologic knowledge of this disorder has improved. In the present paper we analyze three aspects of the disease which are, at present, the subject of study and controversy: first, we discuss the possible relationship between degenerative aortic stenosis and atherosclerosis; second, the involvement of the aortic root in cases of bicuspid aortic valve; and third, the surgical indications in asymptomatic patients with either aortic stenosis or regurgitation.

  17. Dental enamel hypoplasias in prehistoric populations.

    PubMed

    Goodman, A H

    1989-09-01

    Recent years have witnessed an impressive increase in research on enamel hypoplasias in archaeological populations. By reviewing a series of studies of enamel hypoplasias at Dickson Mounds, Illinois, North America (950-1300 A.D.), a prehistoric site involved in the transition from gathering-hunting to agriculture, this paper provides an illustration of this type of research. The location of linear hypoplasias on labial tooth surfaces of 111 adults was studied with a thin-tipped caliper, and this location was converted to an age at development. Most defects developed between two and four years of developmental age. Hypoplasias increased in prevalence from 45% in the pre-agriculture group to 80% in the agricultural group (p less than 0.01). The transition to agriculture occurred at a cost to infant and childhood health. Defects are associated with decreased longevity. Individuals with defects have a life expectancy of nearly ten years fewer than those without defects, suggesting that the development of a defect marks a significant and lasting health event. Enamel hypoplasias occur most frequently on anterior teeth, polar teeth in developmental fields, and the middle developmental thirds of teeth. Analysis of these data suggests that enamel may be differentially susceptible to growth disruption and that susceptibility varies both within and among teeth. The study of enamel defects at Dickson provides insights into the health and nutritional consequences of the economic change from hunting and gathering to agriculture. More generally, with the availability of teeth from genetically homogeneous populations, studies of enamel hypoplasias in prehistory should provide a useful complement to research on this condition in contemporary peoples.

  18. Management of bicuspid aortic valve with or without involvement of ascending aorta and aortic root.

    PubMed

    Neragi-Miandoab, S

    2014-06-01

    Patients with a bicuspid aortic valve (BAV) constitute a heterogeneous population with variable clinical presentation and complications. More than 50% of the patients who require aortic valve replacement have a BAV, a condition that may be associated with dilation of ascending aorta and aortic insufficiency caused by cusp disease or aortic root pathology. Of the potential BAV-related complications, dilation of the aortic root and ascending aorta are among the most serious. The dilation of ascending aorta and aortic root have been the subject of controversy. Whereas some surgeons believe that the dilation of the aorta is caused by the hemodynamic properties of the BAV, others believe that the dilation of the aortic root is secondary to genetic defects associated with the BAV. Management of a BAV should be tailored to each patient's clinical condition. The surgical approach varies from aortic valve replacement to combined aortic valve and root replacement to aortic-valve-sparing root replacement.

  19. [Inflammatory abdominal aortic aneurysm].

    PubMed

    Ziaja, K; Sedlak, L; Urbanek, T; Kostyra, J; Ludyga, T

    2000-01-01

    The reported incidence of inflammatory abdominal aortic aneurysm (IAAA) is from 2% to 14% of patients with abdominal aortic aneurysm and the etiology of this disease is still discussed--according to the literature several pathogenic theories have been proposed. From 1992 to 1997 32 patients with IAAA were operated on. The patients were mostly symptomatic--abdominal pain was present in 68.75% cases, back pain in 31.25%, fever in 12.5% and weight loss in 6.25% of the operated patients. In all the patients ultrasound examination was performed, in 4 patients CT and in 3 cases urography. All the patients were operated on and characteristic signs of inflammatory abdominal aortic aneurysm like: thickened aortic wall, perianeurysmal infiltration or retroperitoneal fibrosis with involvement of retroperitoneal structures were found. In all cases surgery was performed using transperitoneal approach; in three cases intraoperatively contiguous abdominal organs were injured, which was connected with their involvement into periaortic inflammation. In 4 cases clamping of the aorta was done at the level of the diaphragmatic hiatus. 3 patients (9.37%) died (one patient with ruptured abdominal aortic aneurysm). Authors present diagnostic procedures and the differences in the surgical tactic, emphasizing the necessity of the surgical therapy in patients with inflammatory abdominal aortic aneurysm.

  20. Aortic Aneurysm

    MedlinePlus

    ... these occur in the part of the aorta running through the chest Abdominal aortic aneurysms (AAA) - these occur in the part of the aorta running through the abdomen Most aneurysms are found during ...

  1. Aortic dimensions in Turner syndrome.

    PubMed

    Quezada, Emilio; Lapidus, Jodi; Shaughnessy, Robin; Chen, Zunqiu; Silberbach, Michael

    2015-11-01

    In Turner syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the taller general population with the shorter Turner syndrome population can lead to over-estimation of aortic size causing stigmatization, medicalization, and potentially over-treatment. We used echocardiography to measure aortic diameters at eight levels of the thoracic aorta in 481 healthy girls and women with Turner syndrome who ranged in age from two to seventy years. Univariate and multivariate linear regression analyses were performed to assess the influence of karyotype, age, body mass index, bicuspid aortic valve, blood pressure, history of renal disease, thyroid disease, or growth hormone therapy. Because only bicuspid aortic valve was found to independently affect aortic size, subjects with bicuspid aortic valve were excluded from the analysis. Regression equations for aortic diameters were calculated and Z-scores corresponding to 1, 2, and 3 standard deviations from the mean were plotted against body surface area. The information presented here will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population. © 2015 Wiley Periodicals, Inc.

  2. Aortic Valve Stenosis

    MedlinePlus

    ... By Mayo Clinic Staff Aortic valve stenosis — or aortic stenosis — occurs when the heart's aortic valve narrows. This ... pressure may prevent or slow the development of aortic stenosis. Ask your doctor if you need to lower ...

  3. Thoracic Aortic Aneurysm from Chronic Antiestrogen Therapy.

    PubMed

    Tripathi, Rishi; Sainathan, Sandeep; Ziganshin, Bulat A; Elefteriades, John A

    2017-03-01

    Aortic aneurysms are a common but often undetected pathology prevalent in the population. They are often detected as incidental findings on imaging studies performed for unrelated pathologies. Estrogens have been shown to exert a protective influence on aortic tissue. Pharmacological agents blocking the actions of estrogens may thus be implicated in causing aortic pathologies. We present the case of an elderly woman with breast carcinoma treated for 18 years with antiestrogen therapy who subsequently developed acute thoracic aortic deterioration (enlargement and wall disruption).

  4. Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs

    PubMed Central

    2013-01-01

    Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication. Results Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance. Conclusions The study describes the clinical and

  5. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

    PubMed

    Dar, Mohd Arif; Alaparthi, Ravikiran; Yalamanchili, Samatha; Santosh, Arvind Babu Rajendra

    2015-10-13

    We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth.

  6. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    PubMed Central

    Thavarajah, Harshithaa

    2017-01-01

    Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks' gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks' gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder. PMID:28251002

  7. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

    PubMed

    Yasui, Yoshitomo; Kohno, Miyuki; Nishida, Syouichi; Shironomae, Tsubasa; Satomi, Miwa; Kuwahara, Tsuyoshi; Takahashi, Sadayoshi; Niida, Yo

    2017-01-01

    Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage-hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.

  8. Enamel hypoplasia and its role in identification of individuals: A review of literature

    PubMed Central

    Kanchan, Tanuj; Machado, Meghna; Rao, Ashwin; Krishan, Kewal; Garg, Arun K.

    2015-01-01

    Identification of individuals is the mainstay of any forensic investigation especially in cases of mass disasters when mutilated remains are brought for examination. Dental examination helps in establishing the identity of an individual and thus, has played a vital role in forensic investigation process since long. In this regard, description on the role of enamel hypoplasia is limited in the literature. The present article reviews the literature on the enamel hypoplasia and discusses its utility in forensic identification. Enamel hypoplasia is a surface defect of the tooth crown caused by disturbance of enamel matrix secretion. Enamel defects can be congenital or acquired. In cases of mass disasters, or when the body is completely charred, putrefied and mutilated beyond recognition, the unique dental features can help in identification of the victims. PMID:26097340

  9. Enamel hypoplasia: challenges of esthetic restorative treatment.

    PubMed

    Ruschel, Vanessa Carla; Araújo, Élito; Bernardon, Jussara Karina; Lopes, Guilherme Carpena

    2016-01-01

    Enamel defects, such as white or yellow-brown spots, usually cause problems that are more esthetic than functional. Enamel hypoplasia may be the result of hereditary, systemic, or local factors. Dental trauma is a local etiologic factor. It is relatively common in the primary dentition and can cause defects on the surface of permanent successors. Treatment for such defects can differ, depending on the depth of the spots. For deeper white-spot lesions, a composite resin restoration may be necessary. This is an excellent mode of treatment, due to both its low cost and its conservation of healthy tooth structure. The objective of this case report is to describe composite resin restoration of a maxillary central incisor affected by enamel hypoplasia.

  10. [Oligomeganephronic renal hypoplasia complicated by glomerulonephritis].

    PubMed

    Kan'shina, N F; Rykov, V A; Lakhno, P A

    1990-01-01

    Clinico-anatomical data of a rare condition congenital oligomeganephronic renal hypoplasia with a glomerulonephritis as a complication are available for a 13-year-old girl who died of chronic renal failure. Large aglomerular zones consisting of primitive canaliculi in a loose stroma were observed in kidneys that were decreased in size. The glomeruli were few in number, some of them of a large size (2-2.5-fold), firmly attached to the capsule, with pronounced extracapillary proliferation.

  11. Pontocerebellar hypoplasia type 2: a neuropathological update

    PubMed Central

    Aronica, Eleonora; de Vries, Linda; Nikkels, Peter G. J.; Scheper, Wiep; Hoozemans, Jeroen J.; Poll-The, Bwe - Tien; Troost, Dirk

    2007-01-01

    Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was studied for comparison. Typical findings are: short cerebellar folia with poor branching (“hypoplasia”), relative sparing of the vermis, sharply demarcated areas of full thickness loss of cerebellar cortex probably resulting from regression at an early stage of development, segmental loss of dentate nuclei with preserved islands and reactive changes, segmental loss in the inferior olivary nucleus with reactive changes, loss of ventral pontine nuclei with near absence of transverse pontine fibers and sparing of spinal anterior horn cells. Variable findings are: cystic cerebellar degeneration, found in two, with vascular changes limited to the cerebellum in one. Comparison to olivopontocerebellar hypoplasia (OPCH) strongly suggests a continuum of pathology between this disorder and PCH-2. Immunohistochemical evaluation of the endoplasmic reticulum stress response is negative. We conclude that the neuropathological findings in PCH-2 are sufficiently specific to enable an unequivocal diagnosis based on neuropathology. PMID:17641900

  12. Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia

    PubMed Central

    Reddin, Gemma; Dearani, Joseph A.; Warnes, Carole A.; Cetta, Frank

    2016-01-01

    Cone reconstruction for tricuspid valve repair has revolutionized the surgical treatment of Ebstein anomaly. We present the case of a 58-year-old woman with atypical Ebstein anomaly and right ventricular apical hypoplasia who was spared from palliative shunt physiology by our use of cone reconstruction. Compared with other techniques, cone reconstruction of the tricuspid valve more closely replicates normal valvular anatomy and function. This surgical procedure can be applied to many anatomic variations of Ebstein anomaly, as in our patient's apparently unique instance of atypical Ebstein anomaly with right ventricular apical hypoplasia. PMID:27047292

  13. Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant?

    PubMed

    De Coster, P J; Verbeeck, R M H; Holthaus, V; Martens, L C; Vral, A

    2006-11-01

    Seckel syndrome (SCKL) [OMIM Entry 210600] is a rare, autosomal recessive syndrome, characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird-headed). Associated findings may include limb anomalies, dislocation of femoral heads, scoliosis, and gastrointestinal malformation. A 14-year-old boy is presented with brain hypoplasia, pachygyria, hydrocephaly, enamel hypoplasia and root dysplasia in the temporary dentition, and oligodontia, severe microdontia, and delayed eruption of the permanent dentition. The association of SCKL with the above unusual dental findings may represent a new phenotype.

  14. Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia.

    PubMed

    Reddin, Gemma; Poterucha, Joseph T; Dearani, Joseph A; Warnes, Carole A; Cetta, Frank

    2016-02-01

    Cone reconstruction for tricuspid valve repair has revolutionized the surgical treatment of Ebstein anomaly. We present the case of a 58-year-old woman with atypical Ebstein anomaly and right ventricular apical hypoplasia who was spared from palliative shunt physiology by our use of cone reconstruction. Compared with other techniques, cone reconstruction of the tricuspid valve more closely replicates normal valvular anatomy and function. This surgical procedure can be applied to many anatomic variations of Ebstein anomaly, as in our patient's apparently unique instance of atypical Ebstein anomaly with right ventricular apical hypoplasia.

  15. Bovine Aortic Arch and Bilateral Retroesophageal Course of Common Carotid Arteries in a Symptomatic Patient

    PubMed Central

    Bissacco, Daniele; Domanin, Maurizio; Schinco, Giuseppina; Gabrielli, Livio

    2016-01-01

    Anatomical variations of carotid arteries may be related to their development (agenesis, aplasia, hypoplasia) or course (coiling, kinking, tortuosity). Partial or total aberrancies in carotid vessel anatomy rarely occur. We describe the case of a 95-year-old woman presented with sudden onset of confusion and disorientation together with upper limb clonus. Computed tomography (CT)-scan revealed a left frontal brain injury with a not conclusive carotid doppler ultrasound. CT angiography reported a bovine aortic arch with bilateral retroesophageal course of both common carotid arteries and left severe (>70%) internal carotid artery stenosis. The knowledge of anatomical variations of the course of carotid arteries is relevant for possible surgical or endovascular repair or in case of otolaryngology or intubation procedures. PMID:27699162

  16. Oral phenotype and variation in focal dermal hypoplasia.

    PubMed

    Wright, John Timothy; Puranik, Chaitanya P; Farrington, Frank

    2016-03-01

    Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development.

  17. [Aortic dissection].

    PubMed

    Ogino, Hitoshi

    2011-07-01

    Acute aortic dissection suddenly occurrs and results in a variety of catastrophic sequelae including cardiac tamponade, rupture, and organ malperfusion. In acute stage (< 2 weeks), according to the classifications on the region of aortic dissection, the condition of the false channel and the onset, appropriate medical, surgical, or endovascular treatments including endovascular aneurysm repair followed by the rapid and accurate diagnosis of aortic dissection using computed tomography and ultrasound should be performed without delay. In the chronic stage (> 2 weeks), the behavior of the chronic dissection or residual distal dissection after the initial treatment should be followed-up carefully with best medical treatment at the regular intervals. If necessary, appropriate surgical and endovascular treatment should be carried out in the proper timing before rupture.

  18. [Inflammatory abdominal aortic aneurysm].

    PubMed

    Mikami, Y; Kyogoku, M

    1994-08-01

    Inflammatory abdominal aortic aneurysm (IAAA) is a distinct clinicopathological entity, characterized by: (1) clinical presentation, such as back pain, weight loss, and increased ESR, (2) patchy and/or diffuse lymphoplasmacytic infiltration, and (3) marked periaortic fibrosis resulting in thickening of the aneurysmal wall and occasional retroperitoneal fibrosis. Its pathogenesis is unknown, but some authors support the theory that IAAA is a subtype of atherosclerotic abdominal aortic aneurysm because of close relationship between IAAA and atherosclerotic change. In this article, we describe clinical and histological features of IAAA on the basis of the literature and our review of 6 cases of IAAA, emphasizing the similarity and difference between IAAA and atherosclerotic abdominal aortic aneurysm. Our review supports that marked lamellar fibrosis completely replacing the media and adventitia, patchy lymphocytic infiltration (mostly B cells) and endarteritis obliterans are characteristic features of IAAA.

  19. Bicuspid Aortic Valve

    DTIC Science & Technology

    2006-08-01

    severe aortic stenosis . Figure 1F. Oblique axial cine bright blood imaging through the valve plane of the aorta, demonstrates the aortic valve to...the ascending aorta. This moderate to large jet is consistent with moderate to severe aortic stenosis . No diastolic jet to suggest aortic ...conditions. Functional impairment of the aortic valve—namely aortic stenosis and aortic regurgitation—is the most common complication (in up to 68-85% of

  20. Bilateral implantation in children with cochleovestibular nerve hypoplasia.

    PubMed

    Oker, N; Loundon, N; Marlin, S; Rouillon, I; Leboulanger, N; Garabédian, E N

    2009-10-01

    To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant.

  1. Unilateral inferior turbinate hypoplasia caused by a longstanding (approximately 35 yr) nasal foreign body.

    PubMed

    Derosas, Fiorenza; Marioni, Gino; Brescia, Giuseppe; Florio, Alessandra; Staffieri, Claudia; Staffieri, Alberto

    2008-01-01

    We report the unusual case of a 44-year-old man who presented with a plastic foreign body that had been lodged in his right nasal cavity for approximately 35 years. Initial attempts to remove the object were unsuccessful; only after it was broken into several parts was removal achieved. Rigid nasal endoscopy and computed tomography revealed hypoplasia of the ipsilateral inferior turbinate.

  2. Severe Aortic Stenosis Associated with Unicommissural Unicuspid Aortic Valve in a Middle Aged Male

    PubMed Central

    Kwon, Hee-Jin; Kim, Song Soo; Sun, Byung Joo; Jin, Sun Ah; Kim, Jun-Hyung; Lee, Jae-Hwan; Choi, Siwan; Jeong, Jin-Ok; Seong, In-Whan

    2016-01-01

    Unicuspid aortic valve (UAV) is an extremely rare form of congenital aortic valvular abnormality. Although UAV shows similar clinical characteristics to bicuspid aortic valve, the clinical symptoms develop at earlier age and progress at a faster pace in UAV. In this report, we are presenting a 42-year-old male with severe aortic stenosis associated with unicommissural UAV. The patients underwent a successful Bentall operation. PMID:27721957

  3. Transcatheter aortic valve replacement for bicuspid aortic stenosis 13years post heart transplant.

    PubMed

    Julien, Maureen B; Desai, Nimesh; Brozena, Susan; Herrmann, Howard C

    2016-12-16

    Despite the widespread use of transcatheter aortic valve replacement (TAVR) for moderate and high-risk patients with severe aortic stenosis, it is utilized less frequently in patients with bicuspid aortic valves (BAV). Orthotopic heart transplant (OHT) donors tend to be younger and may have undiagnosed BAV. We present a case of successful TAVR in a patient with BAV thirteen years after OHT.

  4. Inflammatory abdominal aortic aneurysm.

    PubMed

    Savarese, R P; Rosenfeld, J C; DeLaurentis, D A

    1986-05-01

    Between January 1976 and December 1982, 181 patients with abdominal aortic aneurysms were treated surgically, and in 13 patients the aneurysms were found to be inflammatory. Inflammatory aneurysms of the abdominal aorta (IAAA) share important characteristics with typical atherosclerotic abdominal aortic aneurysms. Diagnosis and surgical management of IAAA are distinctive which suggests that IAAA should be considered separately, as a varient of typical abdominal aortic aneurysms. IAAA occur predominantly in males. The presenting symptoms are often idiosyncratic and include severe abdominal or back pain, or both, and ureteral obstruction; the diagnosis of IAAA should be considered when these symptoms are present. Although grossly and microscopically, the perianeurysmal fibrosis resembles idiopathic retroperitoneal fibrosis, the two conditions can be differentiated. At the present time, ultrasonography and computed tomography appear to offer reliable means for diagnosing IAAA. The presence of IAAA, whether established preoperatively or discovered unexpectedly at operation, necessitate certain modifications in the surgical approach, in order to avoid injuring the duodenum and the venous structures. Most patients can be successfully treated by resection and graft replacement. Rupture of the aneurysm in IAAA appears to be less frequent than in typical atherosclerotic abdominal aortic aneurysm.

  5. Hypertensive Emergency in Aortic Dissection and Thoracic Aortic Aneurysm—A Review of Management

    PubMed Central

    Gupta, Prateek K.; Gupta, Himani; Khoynezhad, Ali

    2009-01-01

    Over the last few decades, treatment for aortic dissection and thoracic aortic aneurysms has evolved significantly with improvement in outcomes. Treatment paradigms include medical, endovascular and surgical options. As aortic dissection presents as a hypertensive emergency, diligent control of BP is of utmost importance in order to reduce the progression of dissection with possible aortic branch malperfusion. Treatment should begin on arrival to the emergency department and continues in the intensive care unit, endovascular suite or the operating room. Novel antihypertensive medications with improved pharmacological profile and improved surgical techniques, have improved the prognosis of patients with aortic aneurysm and/or aortic dissection. Nevertheless, morbidity and mortality remain high and hypertensive emergency poses a significant challenge in aortic dissection and thoracic aortic aneurysms. PMID:27713224

  6. [Surgical technique of aortic valve replacement for small aortic annulus in elderly patients].

    PubMed

    Hata, T; Fujiwara, K; Furukawa, H; Tsushima, Y; Yoshitaka, H; Kuinose, M; Minami, H; Ishida, A; Tamura, K; Totsugawa, T; Kanemitsu, H; Ozawa, M

    2006-04-01

    Recent reports have shown that aortic valve replacement in elderly patients over 65 years with atherosclerotic aortic stenosis and a small aortic annulus is possible by using a small sized bioprosthesis (Carpentier-Edwards pericardial valve). Here we present out surgical technique. Firstly, the native calcified aortic valve was removed completely to gain total exposure of the surrounding aortic root and sinus of Valsalva like Bentall procedure. Secondly, a small sized bioprosthesis was implanted with intermittent noneverting mattress 2-0 sutures with spaghetti and small polytetrafluoroethylene (PTFE) felt. Aortic annulus is the dilated by inserting Hegar dilator sizing from 25 to 27 mm. Therefore, aortic valve replacement for small aortic annulus in intra- or supra-annular position should be easily accomplished. Good surgical results and hemodynamic state were achieved in 25 consecutive cases using this technique.

  7. Aortic Root Enlargement or Sutureless Valve Implantation?

    PubMed Central

    Baikoussis, Nikolaos G.; Dedeilias, Panagiotis; Argiriou, Michalis

    2016-01-01

    Aortic valve replacement (AVR) in patients with a small aortic annulus is a challenging issue. The importance of prosthesis–patient mismatch (PPM) post aortic valve replacement (AVR) is controversial but has to be avoided. Many studies support the fact that PPM has a negative impact on short and long term survival. In order to avoid PPM, aortic root enlargement may be performed. Alternatively and keeping in mind that often some comorbidities are present in old patients with small aortic root, the Perceval S suturelles valve implantation could be a perfect solution. The Perceval sutureless bioprosthesis provides reasonable hemodynamic performance avoiding the PPM and providing the maximum of aortic orifice area. We would like to see in the near future the role of the aortic root enlargement techniques in the era of surgical implantation of the sutureless valve (SAVR) and the transcatheter valve implantation (TAVI). PMID:28028424

  8. Bone marrow hypoplasia associated with fenbendazole administration in a dog.

    PubMed

    Gary, Anthony T; Kerl, Marie E; Wiedmeyer, Charles E; Turnquist, Susan E; Cohn, Leah A

    2004-01-01

    A 1.5-year-old Doberman pinscher was presented with sudden-onset of fever and malaise. Twelve days prior to presentation, fenbendazole therapy was initiated for a suspected lungworm infection. Results of a complete blood count on presentation showed pancytopenia, while histopathological evaluation of a bone marrow core sample revealed bone marrow hypoplasia of undetermined etiology. Bactericidal antibiotics and fluid therapy, as well as discontinuation of fenbendazole administration, led to a complete resolution of clinical and hematological abnormalities within 15 days. An idiosyncratic reaction to fenbendazole was suspected based on the absence of infectious, neoplastic, autoimmune, and toxic etiologies, as well as resolution of clinical signs and pancytopenia upon drug withdrawal.

  9. Intestinal lymphangiectasia and thymic hypoplasia.

    PubMed Central

    Sorensen, R U; Halpin, T C; Abramowsky, C R; Hornick, D L; Miller, K M; Naylor, P; Incefy, G S

    1985-01-01

    We have evaluated the immunological abnormalities present in a 6 year old patient with primary intestinal and generalized lymphangiectasia confirmed by intestinal, lung and lymph node biopsies. Lymphocyte loss through the gut was confirmed by the detection of lymphocytes in her stool. An increased enteric protein loss was suggested by hypoproteinaemia, peripheral oedema, and a very short half-life for i.v. immune serum globulin (3 days). Lymphocyte subpopulation analysis revealed a selective loss of T lymphocytes, with a proportionally increased loss of the OKT4 positive helper/inducer subpopulation. Functionally, there was a decrease in proliferative responses to some mitogens and to allogeneic cells, and a lack of T cell help for in vitro B lymphocyte differentiation into immunoglobulin secreting cells. Natural killer function was normal. In this patient, a concomitant thymic deficiency was documented by failure to identify thymic tissue on a thymus biopsy and by an absence or decrease of the serum thymic factor (thymulin) and thymosin alpha 1. No compensatory lymphopoiesis was detected in the bone marrow. In an attempt to increase T lymphocyte development, the patient was treated with thymosin fraction 5. Daily treatment with this preparation resulted in a transient clinical improvement which could not be sustained on a weekly thymosin treatment schedule. However, lymphocyte numbers did not increase during this treatment. The findings in this patient support the notion that T lymphocytes are needed to stimulate thymic epithelium. In situations of excessive loss of long lived T lymphocytes a secondary thymic atrophy may occur and further contribute to the development of a deficiency in cell-mediated immunity. Images Fig. 1 Fig. 2 PMID:3971596

  10. Thoracic aortic aneurysm

    MedlinePlus

    ... common cause of a thoracic aortic aneurysm is hardening of the arteries . This condition is more common ... aortic aneurysm repair - open Aortic aneurysm repair - endovascular Hardening of the arteries High blood pressure Marfan syndrome ...

  11. Aortic Valve Regurgitation

    MedlinePlus

    ... valve. Also, a narrowing of the aortic valve (aortic stenosis) can be associated with leaking. High blood pressure (hypertension). High blood pressure may stretch the root of the aorta where the aortic valve sits. The valve flaps ( ...

  12. Spectrum of PORCN mutations in Focal Dermal Hypoplasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation, and herniation of fat through dermal defects); papillomas...

  13. Aortic Stenosis.

    PubMed

    Bakaeen, Faisal G; Rosengart, Todd K; Carabello, Blase A

    2017-01-03

    This issue provides a clinical overview of aortic stenosis, focusing on screening, diagnosis, treatment, and practice improvement. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including MKSAP (Medical Knowledge and Self-Assessment Program). Annals of Internal Medicine editors develop In the Clinic in collaboration with the ACP's Medical Education and Publishing divisions and with the assistance of additional science writers and physician writers.

  14. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    PubMed

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  15. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

    PubMed

    Santos, Silvana C; Pardono, Eliete; Ferreira da Costa, Maria Ione; de Melo, Aurea Nogueira; Graciani, Zodja; de Albuquerque e Souza, Alessandra Cavalcanti; Lezirovitz, Karina; Thiele-Aguiar, Renata Soares; Mingroni-Netto, Regina Célia; Opitz, John M; Kok, Fernando; Otto, Paulo A

    2008-12-15

    We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia.

  16. PRENATAL AND NEONATAL VARIABLES ASSOCIATED WITH ENAMEL HYPOPLASIA IN DECIDUOUS TEETH IN LOW BIRTH WEIGHT PRETERM INFANTS

    PubMed Central

    Franco, Kátia Maria Dmytraczenko; Line, Sérgio Roberto Peres; de Moura-Ribeiro, Maria Valeriana Leme

    2007-01-01

    This study investigated possible prenatal and neonatal variables that may influence the prevalence of tooth enamel hypoplasia in preterm and low birth weight children (LBW) and a matched control group of term children with normal birth weight (NBW). The study sample consisted of 61 children born preterm and with LBW examined at 18-34 months of age. The control group was formed by 61 infants born full term and with NBW examined at 31-35 months of age. All children were born at the Center of Integrated Attention of Women's Health (CAISM-UNICAMP). FDI criteria were followed for dental examination. Medical data was collected retrospectively from hospital records. Among preterms, 57.4% had some type of developmental defects of enamel (DDE), 52.5 % had opacities and 21.3 % presented hypoplasia. Among full-term children, 24.6% presented DDE, 24.6% had opacities and 3.3% had hypoplasia. LBW preterm infants presented a higher prevalence of hypoplasia than NBW controls. The deciduous teeth most affected by hypoplasia were maxillary incisors. There was no significant association with prenatal variables; among neonatal variables there was a significant association with respiratory distress syndrome and neurological examination at discharge with an altered result. PMID:19089191

  17. Blaschko Linear Enamel Defects – A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

    PubMed Central

    Gysin, Stefan; Itin, Peter

    2015-01-01

    Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962) suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia) plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH. PMID:26078738

  18. Traumatic aortic incompetence following road traffic accident

    PubMed Central

    Irving, J. B.

    1974-01-01

    This case report describes the presentation and treatment of a case of aortic incompetence, resulting from a road traffic accident. The relevant literature is briefly reviewed. Aortic incompetence due to trauma has been described following non-penetrating chest injuries, such as kicks from horses (Barie, 1881), falls from heights and crushing accidents (Kissane, Koons and Clark, 1948; Levine, Roberts and Morrow, 1962). Despite the frequency of road traffic accidents, there have been no recent reports of traumatic aortic valve damage. PMID:4467876

  19. Aortic annuloplasty with aortic root reconstruction to prevent patient-prosthesis mismatch.

    PubMed

    Hopkins, Richard A

    2006-07-01

    Part of the ongoing argument concerning patient-prosthesis mismatch (PPM) following aortic valve replacement (AVR) is due to the perception that aortic annulus enlargement procedures increase the risk and technical difficulty of aortic valve surgery. Here, an aortic root reconstruction that involves enlargement of the annulus and tailoring of the aortic root to accommodate larger stented prostheses is presented that has been personally performed in 196 patients with no technique-related surgical deaths or complications, and thus can be carried out without additional risk. This aortic root enlargement aortoplasty and annuloplasty method can be calibrated to all AVRs involving stented manufactured prostheses when these are deemed the prosthesis of choice for the patient with a relatively small annulus and/or aortic root, severe left ventricular hypertrophy, compromised LV function or a very active lifestyle, to achieve predicted EOA values > or = 1.00 cm2/m2.

  20. Brain stem hypoplasia associated with Cri-du-Chat syndrome.

    PubMed

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu

    2013-01-01

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  1. Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

    PubMed Central

    Hong, Jin Ho; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu

    2013-01-01

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries. PMID:24265573

  2. Ruptured abdominal aortic aneurysm.

    PubMed

    Sachs, T; Schermerhorn, M

    2010-06-01

    Ruptured abdominal aortic aneurysm (AAA) continues to be one of the most lethal vascular pathologies we encounter. Its management demands prompt and efficient evaluation and repair. Open repair has traditionally been the mainstay of treatment. However, the introduction of endovascular techniques has altered the treatment algorithm for ruptured AAA in most major medical centers. We present recent literature and techniques for ruptured AAA and its surgical management.

  3. A rare case of type 1 diabetes mellitus with pituitary hypoplasia.

    PubMed

    Pinto, Jostol; Sudeep, K; Venkatesha, B M

    2014-01-01

    Growth failure and pubertal abnormalities are not uncommon in chronic uncontrolled metabolic diseases like diabetes mellitus. We present a young girl with uncontrolled type 1 diabetes mellitus, who presented with short stature and primary amenorrhea, and on evaluation was found to have anterior pituitary hypoplasia. In addition to uncontrolled diabetes mellitus, she presented with early onset growth failure and lack of spontaneous secondary sexual characteristics. She had central hypothyroidism and inappropriately normal gonadotropin levels. However her serum cortisol levels were normal. MRI of the sellar-suprasellar region revealed a small anterior pituitary gland with thinning of the pituitary stalk consistent with pituitary hypoplasia. While uncontrolled type 1 diabetes itself may cause growth retardation and pubertal abnormalities, this girl had coexisting pituitary maldevelopment - a rare co-existence of two major illnesses of unrelated etiologies. The partial pituitary hormonal deficiency, which spared the hypothalamo-pituitary-adrenal axis, may be due to a transcription factor defect.

  4. The Relationship between Tension and Length of the Aortic Adventitia Resected from the Aortic Wall of Acute Aortic Dissection

    PubMed Central

    Kitano, Mitsuru; Teranishi, Hiroo; Kudo, Masahumi; Matsuura, Makoto

    2014-01-01

    Objective: To our knowledge, no previous study has described the measurement of the tensile strength of the human aortic adventitia. In the present study, we examined the relationship between the tension and length of the aortic adventitia resected from the aortic wall of patients with acute aortic dissection. Methods: We obtained rectangular specimens from the aortic adventitia that was resected in patients with acute aortic dissection during surgery. The specimens were placed on a tension meter (Digital Force Gauge FGS-10, SHIMPO, Kyoto, Japan) within 15 min after resection and stretched until they were pulled apart, and the tension and length were recorded. Results: We obtained 18 specimens during surgery from 11 cases of acute aortic dissection. When the specimen was being pulled apart, the mean tension recorded was 10.2 ± 4.9 N/cm specimen width, whereas the mean elongated length recorded was 4.2 ± 1.1 mm/cm specimen length. Discussion: We determined that the aortic adventitia is elastic and expandable up to 140% of its original length. This indicates that dilation of the aorta to >4.2 cm in diameter may result in a rupture if the original aortic diameter prior to dissection was 3 cm. (*English translation of J Jpn Coll Angiol 2013; 53: 77-81) PMID:25298826

  5. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain).

    PubMed

    Bermúdez de Castro, J M; Pérez, P J

    1995-03-01

    The prevalence and chronology of enamel hypoplasias were studied in a hominid dental sample from the Sima de los Huesos (SH) Middle Pleistocene site at the Sierra de Atapuerca (Burgos, northern Spain). A total of 89 permanent maxillary teeth, 143 permanent mandibular teeth, and one deciduous lower canine, belonging to a minimum of 29 individuals, were examined. Excluding the antimeres (16 maxillary and 37 mandibular cases) from the sample, the prevalence of hypoplasias in the permanent dentition is 12.8% (23/179), whereas the deciduous tooth also showed an enamel defect. No statistically significant differences were found between both arcades and between the anterior and postcanine teeth for the prevalence of hypoplasias. In both the maxilla and the mandible the highest frequency of enamel hypoplasias was recorded in the canines. Only one tooth (a permanent upper canine) showed two different enamel defects, and most of the hypoplasias were expressed as faint linear horizontal defects. Taking into account the limitations that the incompleteness of virtually all permanent dentitions imposes, we have estimated that the frequency by individual in the SH hominid sample was not greater than 40%. Most of the hypoplasias occurred between birth and 7 years (N = 18, X = 3.5, SD = 1.3). Both the prevalence and severity of the hypoplasias of the SH hominid sample are significantly less than those of a large Neandertal sample. Furthermore, prehistoric hunter-gatherers and historic agricultural and industrial populations exhibit a prevalence of hypoplasias generally higher than that of the SH hominids. Implications for the survival strategies and life quality of the SH hominids are also discussed.

  6. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

    PubMed

    Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony

    2013-12-01

    Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging.

  7. Cutting balloon angioplasty for in-stent restenosis of the aortic coarctation in a young boy presenting with systemic hypertension of the upper extremities.

    PubMed

    Lee, Meng-Luen

    2013-12-01

    An 8.25-year-old boy was incidentally found to have systemic hypertension of the upper extremities. Blood pressures of the upper extremities were 142-150/86-98 mmHg, and those of the lower extremities 110-116/60-66 mmHg. Doppler echocardiography showed in-stent restenosis of the aortic coarctation. Traditional high-pressure balloon angioplasty failed to dilate this inveterate in-stent restenosis. Instead, a cutting balloon angioplasty was performed. The lumen was dilated from 4.80 mm to 7.89 mm. The pressure gradient dropped from 32 mmHg to 9 mmHg. Blood pressures of the upper extremities were 112-116/76-78 mmHg, and those of the lower extremities 100-104/70-72 mmHg. This paper highlights that a cutting balloon angioplasty can serve as a juste milieu to relieve in-stent restenosis of the aortic coarctation when traditional high-pressure balloon angioplasty is debatable.

  8. [Phenotype analysis and the molecular mechanism of enamel hypoplasia].

    PubMed

    Lv, Ping; Gao, Xue-jun

    2009-02-18

    Enamel hypoplasia is a surface defect of the tooth crown caused by a disturbance of enamel matrix secretion. Enamel hypoplasia may be inherited, or result from illness, malnutrition, trauma, or high concentrations of fluorides or strontium in the drinking water or food. Different types of enamel hypoplasia have been distinguished, such as pit-type, plane-type, and linear enamel hypoplasia. Hypoplasia has been related to the intensity and duration of stress events, the number of affected ameloblasts, and their position along the forming tooth crown. Amelogenesis imperfecta (AI) is a heterogeneous group of inherited defects in dental enamel formation, most teeth are affected in both the primary and permanent dentition. The malformed enamel can be unusually thin, soft, rough and stained. The strict definition of AI includes only those cases where enamel defects occur in the absence of other symptoms. Currently, there are seven candidate genes for AI: amelogenin, enamelin, ameloblastin, tuftelin, distal-less homeobox 3, enamelysin, and kallikrein 4. Since the enamel is formed according to a strict chronological sequence, and once formed, undergoes no repair or regeneration. Then the analysis the phenotype of enamel hypoplasia can provide insights of the severity of inherited or environmental stress and the molecular mechanism during the period of enamel formation.

  9. Mammary hypoplasia: not every breast can produce sufficient milk.

    PubMed

    Arbour, Megan W; Kessler, Julia Lange

    2013-01-01

    Breast milk is considered the optimal form of nutrition for newborn infants. Current recommendations are to breastfeed for 6 months. Not all women are able to breastfeed. Mammary hypoplasia is a primary cause of failed lactogenesis II, whereby the mother is unable to produce an adequate milk volume. Women with mammary hypoplasia often have normal hormone levels and innervation but lack sufficient glandular tissue to produce an adequate milk supply to sustain their infant. The etiology of this rare condition is unclear, although there are theories that refer to genetic predisposition and estrogenic environmental exposures in select agricultural environments. Women with mammary hypoplasia may not exhibit the typical breast changes associated with pregnancy and may fail to lactate postpartum. Breasts of women with mammary hypoplasia may be widely spaced (1.5 inches or greater), asymmetric, or tuberous in nature. Awareness of the history and clinical signs of mammary hypoplasia during the prenatal period and immediate postpartum increases the likelihood that women will receive the needed education and physical and emotional support and encouragement. Several medications and herbs demonstrate some efficacy in increasing breast milk production in women with mammary hypoplasia.

  10. Atlas hypoplasia associated with non-traumatic retro-odontoid mass.

    PubMed

    Sato, Kazufumi; Kubota, Toshihiko; Takeuchi, Hiroaki; Handa, Yuji

    2006-04-01

    A 38-year-old man presented with progressive cervical myelopathy due to atlas hypoplasia associated with non-traumatic retro-odontoid mass. The neuroimaging findings suggested hypertrophy of the transverse ligament of the atlas. No histological confirmation of the retro-odontoid mass was obtained. Clinical manifestations improved after posterior decompression. Decompressive laminectomy of the atlas with or without fusion can achieve a good outcome in such cases.

  11. Relationship of A1 segment hypoplasia to anterior communicating artery aneurysm morphology and risk factors for aneurysm formation.

    PubMed

    Rinaldo, Lorenzo; McCutcheon, Brandon A; Murphy, Meghan E; Bydon, Mohamad; Rabinstein, Alejandro A; Lanzino, Giuseppe

    2016-09-30

    OBJECTIVE Hypoplasia of the A1 segment of the anterior cerebral artery is frequently observed in patients with anterior communicating artery (ACoA) aneurysms. The effect of this anatomical variant on ACoA aneurysm morphology is not well understood. METHODS Digital subtraction angiography images were reviewed for 204 patients presenting to the authors' institution with either a ruptured or an unruptured ACoA aneurysm. The ratio of the width of the larger A1 segment to the smaller A1 segment was calculated. Patients with an A1 ratio greater than 2 were categorized as having A1 segment hypoplasia. The relationship of A1 segment hypoplasia to both patient and aneurysm characteristics was then assessed. RESULTS Of 204 patients that presented with an ACoA aneurysm, 34 (16.7%) were found to have a hypoplastic A1. Patients with A1 segment hypoplasia were less likely to have a history of smoking (44.1% vs 62.9%, p = 0.0410). ACoA aneurysms occurring in the setting of a hypoplastic A1 were also found to have a larger maximum diameter (mean 7.7 vs 6.0 mm, p = 0.0084). When considered as a continuous variable, increasing A1 ratio was associated with decreasing aneurysm dome-to-neck ratio (p = 0.0289). There was no significant difference in the prevalence of A1 segment hypoplasia between ruptured and unruptured aneurysms (18.9% vs 10.7%; p = 0.1605). CONCLUSIONS Our results suggest that a hypoplastic A1 may affect the morphology of ACoA aneurysms. In addition, the relative lack of traditional risk factors for aneurysm formation in patients with A1 segment hypoplasia argues for the importance of hemodynamic factors in the formation of ACoA aneurysms in this anatomical setting.

  12. Local repair of distal thoracal aortic dissections (Locus minoris resistencia).

    PubMed

    Belov, Iu V; Komarov, R N; Stepanenko, A B; Gens, A P; Charchian, E R

    2007-01-01

    The paper presents the method of local repair of distal aortic dissections. Local aortic grafting for surgical correction of type B dissecting aortic aneurysms helped to decrease hospital mortality up to 15.4%, the rate of paraparesis and multiorgan failure - up to 11.5%.

  13. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

    PubMed

    Patel, Millan S; Becker, Laurence E; Toi, Ants; Armstrong, Dawna L; Chitayat, David

    2006-03-15

    We present three siblings with a precise onset of fetal seizure-like activity who had severe olivopontocerebellar hypoplasia (OPCH) and degeneration. Autopsies at 20, 27, and 37 weeks gestation showed diffuse central nervous system volume loss that was most marked for the cerebellum and brain stem structures. Neuropathological abnormalities included dysplastic, C-shaped inferior olivary nuclei, absent or immature dentate nuclei, and cell paucity more marked for the cerebellar vermis than the hemispheres. Delayed development was seen in layer 2 of the cerebral cortex and in Purkinje cells of the cerebellum. Prenatal monitoring defined a developmental window of 16-18 weeks gestation when ultrasonic assessment of cerebellar width was used for prenatal diagnosis. We discuss our findings in the context of the differential diagnosis for infantile (O)PCH and propose a classification scheme for the pontocerebellar hypoplasias. These patients represent the earliest reported with OPCH and provide unique information regarding the developmental neuropathology of this condition.

  14. Hypoplasia of the left portal vein territory of the human liver: a case study.

    PubMed Central

    Cho, Yong-Hyun; Murakami, Gen; Lee, Moo Sam; Song, Chang Ho; Han, Eui-Hyeog; Jin, Zhe-Wu; Cho, Baik-Hwan

    2003-01-01

    Although reports of hypoplasia or absence of the liver of left lobe are not few, descriptions of the intrahepatic vessels are rare but valuable for discussion of the pathogenesis. The present report demonstrates a case of the left surgical lobe hypoplasia that is characterized by 1) the scar-like lobe with few parenchymal tissue and dilated bile ducts, 2) no Spiegel's lobe with the portal vein stuck to the inferior vena cava, 3) unusual configurations of the right hepatic vein and the 8th segmental portal vein branch, 4) the hepatic groove on S8, and 5) the trifurcation pattern of the portal vein primary division. According to the macroscopic and histological observations, we hypothesized that the secondary abnormal peritoneal fusion occurred in utero and/or during the postnatal growth, and that it involved the left portal vein and other adjacent structures, resulting in severe atrophy of the left surgical lobe. PMID:14676439

  15. Nontraumatic avulsion of aortic valve commissure as a cause of acute aortic valve regurgitation

    PubMed Central

    Chang, Rei-Yeuh; Chen, Chien-Chang; Hsu, Wei-Pang; Hsiao, Pei-Ching; Tsai, Han-Lin; Hsiao, Ping-Gune; Wu, Jiann-Der; Guo, How-Ran

    2016-01-01

    Abstract Background: Avulsion of the aortic valve commissure as a cause of acute aortic valve regurgitation is mostly due to trauma, infective endocarditis, or ascending aortic dissection. Nontraumatic avulsion of the aortic valve commissure is very rare. We reviewed the literature and analyzed potential risk factors of nontraumatic avulsion. Case presentation: An 80-year-old male with hypertension was seen in the emergency department with acute onset dyspnea. Echocardiogram revealed left ventricular hypertrophy with adequate systolic function, prolapse of the noncoronary cusp, and incomplete coaptation of the right coronary and noncoronary cusps with severe aortic valve regurgitation. Surgery revealed an avulsion between the left coronary and noncoronary cusps. Histopathology examination of the aortic valve showed myxoid degeneration, fibrosis, and calcification. Examination of the ascending aorta revealed myxoid degeneration and fragmentation of elastic fibers. Aortic valve replacement was performed, and the patient was alive and well 4 years after surgery. A review of the literature showed that more than three-fourths of the similar cases occurred in males, and about half in patients with hypertension and those 60 years of age or older. Conclusions: In the case of acute aortic regurgitation without a history of trauma, infection, or valvotomy, when 2 prolapsed aortic cusps are observed by echocardiography in the absence of an intimal tear of the ascending aorta, an avulsion of the aortic commissure should be suspected, especially in males with hypertension who are 60 years of age or older. PMID:27749570

  16. Saccular Aneurysms of the Transverse Aortic Arch Based on a Presentation at the 2013 VEITH Symposium, November 19–23, 2013 (New York, NY, USA)

    PubMed Central

    Preventza, Ourania; Coselli, Joseph S.

    2015-01-01

    Saccular aneurysms of the aortic arch, whether single or multiple, are uncommon. The choice of repair technique is influenced by patients' comorbidities and age. Repairing saccular aneurysms with traditional open techniques can be technically demanding; therefore, endovascular technology and a variety of hybrid approaches have been developed to facilitate such repairs and, potentially, to improve clinical outcomes, especially in high-risk patients. There have been no large, randomized studies to compare the outcomes of these different treatment options in patients with single or multiple saccular aneurysms of the arch. In this review, we outline the etiology and common locations of these aneurysms, the different open, completely endovascular, and hybrid techniques used to treat them, and the treatment selection process. PMID:26798759

  17. Liverpool Aortic Surgery Symposium V: New Frontiers in Aortic Disease and Surgery

    PubMed Central

    Bashir, Mohamad; Fok, Matthew; Shaw, Matthew; Field, Mark; Kuduvalli, Manoj; Desmond, Michael; Harrington, Deborah; Rashid, Abbas; Oo, Aung

    2014-01-01

    Aortic aneurysm disease is a complex condition that requires a multidisciplinary approach in management. The innovation and collaboration among vascular surgery, cardiothoracic surgery, interventional radiology, and other related specialties is essential for progress in the management of aortic aneurysms. The Fifth Liverpool Aortic Surgery Symposium that was held in May 2013 aimed at bringing national and international experts from across the United Kingdom and the globe to deliver their thoughts, applications, and advances in aortic and vascular surgery. In this report, we present a selected short synopsis of the key topics presented at this symposium. PMID:26798724

  18. Severe aortic stenosis: forgotten associations.

    PubMed

    Godinho, Ana Rita; Amorim, Sandra; Campelo, Manuel; Martins, Elisabete; Lopez Rodriguez, Elisa; Coelho, Rosa; Macedo, Guilherme; Maciel, Maria Júlia

    2014-09-01

    The authors present the case of a 68-year-old man with predominantly right heart failure in the context of severe aortic stenosis associated with pulmonary hypertension. Anemia was diagnosed which, after endoscopic study, was considered to be secondary to angiodysplasia and a diagnosis of Heyde syndrome was made. After valve replacement surgery the patient's heart failure improved and hemoglobin levels stabilized. We present this case to show the need to recognize less common associations of severe aortic stenosis, in order to provide immediate and appropriate treatment.

  19. Abdominal Aortic Aneurysm (AAA)

    MedlinePlus

    ... Professions Site Index A-Z Abdominal Aortic Aneurysm (AAA) Abdominal aortic aneurysm (AAA) occurs when atherosclerosis or plaque buildup causes the ... weak and bulge outward like a balloon. An AAA develops slowly over time and has few noticeable ...

  20. Abdominal aortic aneurysm

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000162.htm Abdominal aortic aneurysm To use the sharing features on this page, ... blood to the abdomen, pelvis, and legs. An abdominal aortic aneurysm occurs when an area of the aorta becomes ...

  1. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

    PubMed

    Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene

    2014-03-01

    Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C>G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The amino-acid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

  2. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

    PubMed Central

    Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene

    2014-01-01

    Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C>G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The amino-acid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation. PMID:23942204

  3. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

    PubMed

    Bostwick, Bret; Fang, Ping; Patel, Ankita; Sutton, V Reid

    2016-03-01

    Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical description and medical history review for 18 patients with focal dermal hypoplasia. All disease characteristics were analyzed and compiled in aggregate to aid in development of clinical diagnostic criteria. Medical history data unexpectedly revealed that the majority of patients (87%) had undergone tonsillectomy for obstructive sleep apnea, which exposed an important co-morbidity that is not well described in the literature, but managing physicians should be made aware of. Fifteen of the 18 patients underwent molecular sequencing of PORCN to detect heterozygous or mosaic mutations. Where no mutation was detected, we performed exon-targeted chromosomal microarray to evaluate for large deletions of the PORCN gene region. We detected a pathogenic genotype in 14 of 15 patients, including one novel chromosomal deletion and four novel PORCN sequence variants. Here, we provide phenotypic summary analysis of 18 patients with focal dermal hypoplasia and propose clinical diagnostic criteria.

  4. Transcatheter aortic valve replacement

    MedlinePlus

    ... fully will restrict blood flow. This is called aortic stenosis. If there is also a leak, it is ... TAVR is used for people with severe aortic stenosis who aren't ... valve . In adults, aortic stenosis usually occurs due to calcium ...

  5. Increased enamel hypoplasia and very low birthweight infants.

    PubMed

    Nelson, S; Albert, J M; Geng, C; Curtan, S; Lang, K; Miadich, S; Heima, M; Malik, A; Ferretti, G; Eggertsson, H; Slayton, R L; Milgrom, P

    2013-09-01

    Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are rare. In this birth cohort of 234 VLBW and 234 NBW infants, we report the incidence of ECC and DDE at 8 and 18-20 mos of corrected age. Infant medical and maternal socio-demographic data were abstracted from medical records at birth. Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were completed at 8 and 18-20 mos. The incidence of hypoplasia was significantly higher in VLBW compared with NBW infants (8 mos, 19% vs. 2%; 18 mos, 31% vs. 8%). The incidence of ECC (International Caries Detection and Assessment System: ICDAS ≥ 2) was 1.4% (8 mos) and 12% (18-20 mos) and was similar between the VLBW and NBW groups. At both ages, using a beta-binomial regression model to control for potential confounders (maternal and infant characteristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW infants. African Americans had a lower risk for enamel hypoplasia at 18-20 mos. The VLBW infants should be monitored for ECC due to the presence of enamel hypoplasia.

  6. Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.

    PubMed Central

    Acers, T E

    1981-01-01

    Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic measurements of the optic nerves, and the correlation of anatomic size with visual function. Computed axial tomographic studies of the midline brain were performed on all 45 patients to determine the incidence of correlated structural defects, especially the septum pellucidum, and neuroendocrine dysfunction. Review of the spectrum of septo-optic-pituitary syndrome is separately developed to include historical background, embryogenesis, histopathology, and pathogenesis of the three major components of the syndrome. In summary, 45 patients had optic nerve hypoplasia, 32 with evidence of segmental or partial hypoplasia and 13 with evidence of complete or diffuse hypoplasia--the optic nerve hypoplasia syndrome. Twelve of these patients demonstrated absence of the septum pellucidum by computed axial tomography--the septo-optic dysplasia syndrome. Of these 12 patients with partial or complete absence of the septum pellucidum, six demonstrated evidence of pituitary hypofunction--the septo-optic-pituitary dysplasia syndrome. Images FIGURE 2 FIGURE 3 a FIGURE 3 b FIGURE 4 a FIGURE 4 b FIGURE 4 c FIGURE 4 d PMID:7043865

  7. Aortic Valve Calcification in Mild Primary Hyperparathyroidism

    PubMed Central

    Iwata, Shinichi; Walker, Marcella Donovan; Di Tullio, Marco R.; Hyodo, Eiichi; Jin, Zhezhen; Liu, Rui; Sacco, Ralph L.; Homma, Shunichi

    2012-01-01

    Context: It is unclear whether cardiovascular disease is present in primary hyperparathyroidism (PHPT). Objective: Aortic valve structure and function were compared in PHPT patients and population-based controls. Design: This is a case-control study. Setting: The study was conducted in a university hospital metabolic bone disease unit. Participants: We studied 51 patients with PHPT and 49 controls. Outcome Measures: We measured the aortic valve calcification area and the transaortic pressure gradient. Results: Aortic valve calcification area was significantly higher in PHPT (0.24 ± 0.02 vs. 0.17 ± 0.02 cm2, p<0.01), although there was no difference in the peak transaortic pressure gradient, a functional measure of valvular calcification (5.6 ± 0.3 vs. 6.0 ± 0.3 mm Hg, P = 0.39). Aortic valve calcification area was positively associated with PTH (r = 0.34; P < 0.05) but not with serum calcium, phosphorus, or 25-hydroxyvitamin D levels or with calcium-phosphate product. Serum PTH level remained an independent predictor of aortic valve calcification area after adjustment for age, sex, body mass index, smoking status, history of hypercholesterolemia and hypertension, and estimated glomerular filtration rate. Conclusions: Mild PHPT is associated with subclinical aortic valve calcification. PTH, but not serum calcium concentration, predicted aortic valve calcification. PTH was a more important predictor of aortic valve calcification than well-accepted cardiovascular risk factors. PMID:22031523

  8. Pseudoaneurysm of the aortic arch

    PubMed Central

    Lu, Yuan-Qiang; Yao, Feng; Shang, An-Dong; Pan, Jian

    2016-01-01

    Abstract Background: Pseudoaneurysm of the aortic arch is uncommonly associated with cancer, and is extremely rare in pulmonary cancer. Here, we report an unusual and successfully treated case of aortic arch pseudoaneurysm in a male patient with lung squamous cell carcinoma. Methods: A 64-year-old male patient was admitted to the Emergency Department, presenting with massive hemoptysis (>500 mL blood during the 12 hours prior to treatment). The diagnosis of aortic arch pseudoaneurysm was confirmed after inspection of computed tomographic angiography and three-dimensional reconstruction. We processed the immediate endovascular stent-grafting for this patient. Results: This patient recovered with no filling or enlargement of the pseudoaneurysm, no episodes of hemoptysis, and no neurological complications during the 4-week follow-up period. Conclusion: Herein, we compare our case with other cancer-related pseudoaneurysms in the medical literature and summarize the clinical features and treatment of this unusual case. PMID:27495079

  9. [Acute aortic syndromes and sleep apnea].

    PubMed

    Baguet, Jean-Philippe

    2016-10-01

    Obstructive sleep apnea (OSA) is a common disease, often present in "cardiovascular or metabolic patients". OSA favours the occurrence of arterial lesions, all the more if severe. There is a strong relationship between OSA and acute aortic syndromes (AAS). This relationship is in part explained by aortic dilatation linked to OSA. The presence of repeated episodes of sudden variation of transmural pressure applied on aortic wall seems to play a major role in this dilatation. All OSA patients should have a search of aortic dilatation by ultrasound (at a thoracic and abdominal level). Also, screening of OSA should be systematically performed in patients with aortic disease. The effect of continuous positive airway pressure in apneic patients with AAS has not been studied.

  10. Simulations of Transcatheter Aortic Valve Implantation – Implications for Aortic Root Rupture

    PubMed Central

    Wang, Qian; Kodali, Susheel; Primiano, Charles; Sun, Wei

    2014-01-01

    Objectives Aortic root rupture is one of the most severe complications of transcatheter aortic valve implantation (TAVI). The mechanism of this adverse event remains mostly unknown. The purpose of this study was to obtain a better understanding of the biomechanical interaction between the tissue and stent for patients with a high risk of aortic rupture. Methods We simulated the stent deployment process of three TAVI patients with high aortic rupture risk using finite element method. The first case was a retrospective analysis of an aortic rupture case, while the other two cases were prospective studies, which ended with one cancelled procedure and one successful TAVI. Simulation results were evaluated for the risk of aortic root rupture, as well as coronary artery occlusion, and paravalvular leak. Results For Case 1, the simulated aortic rupture location was the same as clinical observations. From the simulation results, it can be seen that the large calcified spot on the interior of the left coronary sinus between coronary ostium and the aortic annulus was pushed by the stent, causing the aortic rupture. For Case 2 and Case 3, predicated results from the simulations were presented to the clinicians at pre-procedure meetings; and they were in agreement with clinician’s observations and decisions. Conclusions Our results indicated that the engineering analysis could provide additional information to help clinicians evaluate complicated, high risk aortic rupture cases. Since a systematic study of a large patient cohort of aortic rupture is currently not available (due to the low occurrence rate) to clearly understand underlying rupture mechanisms, case by case engineering analysis is recommended for evaluating patient-specific aortic rupture risk. PMID:24736808

  11. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    MedlinePlus

    ... IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Enable Javascript to view ... combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by ...

  12. Trigeminal hypoplasia due to vertebrobasilar dolichoectasia: A new entity

    PubMed Central

    Jha, Abhishek; Gupta, Prakhar; Haroon, Mohammad; Shah, Gaurav; Gupta, Gagan; Khalid, Mohd.

    2015-01-01

    The term “vertebrobasilar dolichoectasia” refers to anomalous dilatation of the intracranial arteries associated with elongation or tortuosity of the affected vessels. The etiology of the disease is unknown and is usually detected incidentally. The predominant clinical manifestations arise due to the mass effect of the dilated vessels and may include cranial nerve compression, extrinsic aqueductal compression, motor and sensory disturbances. Trigeminal hypoplasia is a very uncommon condition, usually described in association with Goldenhar-Gorlin syndrome and has not yet been attributed to vertebrobasilar dolichoectasia. The current case report highlights this rare association of trigeminal nerve hypoplasia and vertebrobasilar dolichoectasia, leading to hemifacial and corneal anesthesia. PMID:26167222

  13. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

    PubMed

    Perez, Yonatan; Gradstein, Libe; Flusser, Hagit; Markus, Barak; Cohen, Idan; Langer, Yshaia; Marcus, Mira; Lifshitz, Tova; Kadir, Rotem; Birk, Ohad S

    2014-05-01

    Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia.

  14. Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management

    PubMed Central

    Satyarthee, Guru Dutta; Mankotia, Dipanker Singh

    2016-01-01

    Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating. PMID:27857796

  15. Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report.

    PubMed

    Essandoh, Michael; Castellon-Larios, Karina; Zuleta-Alarcon, Alix; Portillo, Juan Guillermo; Crestanello, Juan A

    2014-01-01

    Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery. Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

  16. [Inflammatory abdominal aortic aneurysm].

    PubMed

    Siebenmann, R; Schneider, K; von Segesser, L; Turina, M

    1988-06-11

    348 cases of abdominal aortic aneurysm were reviewed for typical features of inflammatory aneurysm (IAAA) (marked thickening of aneurysm wall, retroperitoneal fibrosis and rigid adherence of adjacent structures). IAAA was present in 15 cases (14 male, 1 female). When compared with patients who had ordinary aneurysms, significantly more patients complained of back or abdominal pain (p less than 0.01). Erythrocyte sedimentation rate was highly elevated. Diagnosis was established in 7 of 10 computed tomographies. 2 patients underwent emergency repair for ruptured aneurysm. Unilateral ureteral obstruction was present in 4 cases and bilateral in 1. Repair of IAAA was performed by a modified technique. Histological examination revealed thickening of the aortic wall, mainly of the adventitial layer, infiltrated by plasma cells and lymphocytes. One 71-year-old patient operated on for rupture of IAAA died early, and another 78-year-old patient after 5 1/2 months. Control computed tomographies revealed spontaneous regression of inflammatory infiltration after repair. Equally, hydronephrosis due to ureteral obstruction could be shown to disappear or at least to decrease. IAAA can be diagnosed by computed tomography with high sensitivity. Repair involves low risk, but modification of technique is necessary. The etiology of IAAA remains unclear.

  17. Visceral Infarction Following Aortic Surgery

    PubMed Central

    Johnson, Willard C.; Nabseth, Donald C.

    1974-01-01

    An experience with aortic surgery is reported which reveals that visceral ischemia is more frequent than expected and significantly contributes to operative mortality. Two of five deaths among 84 patients who had aorto-iliac occlusive disease and four of 40 deaths among 103 aneurysmectomies (both ruptured and elective) were related to visceral ischemia. A review of the literature reveals 99 cases of colonic ischemia in more than 6,100 cases of aortic surgery, an incidence of 1.5%. Only 10 cases of small bowel ischemia were recorded. The present experience with 9 cases of colon ischemia and one of small bowel ischemia is presented particularly with reference to pathophysiology and prevention. It is concluded that patients should be identified by appropriate angiography if considered a risk for visceral infarction, and, if present, visceral arterial reconstruction should be performed in addition to aortic reconstructive surgery. Colon infarction following aortic aneurysmal surgery is directly related to ligation of a patent IMA. Thus re-implantation of the patent IMA should be considered. ImagesFig. 1a. PMID:4277757

  18. Severe Aortic Coarctation in a 75-Year-Old Woman: Total Simultaneous Repair of Aortic Coarctation and Severe Aortic Stenosis

    PubMed Central

    Park, Ju Hyun; Song, Sung Gook; Kim, Jeong Su; Park, Yong Hyun; Kim, Jun; Choo, Ki Seuk; Kim, June Hong; Lee, Sang Kwon

    2012-01-01

    Aortic coarctation is usually diagnosed and repaired in childhood and early adulthood. Survival of a patient with an uncorrected coarctation to more than 70 years of age is extremely unusual, and management strategies for these cases remain controversial. We present a case of a 75-year-old woman who was first diagnosed with aortic coarctation and severe aortic valve stenosis 5 years ago and who underwent a successful one-stage repair involving valve replacement and insertion of an extra-anatomical bypass graft from the ascending to the descending aorta. PMID:22363387

  19. Bacillus cereus endocarditis in native aortic valve.

    PubMed

    Ngow, H A; Wan Khairina, W M N

    2013-02-01

    Bacillus cereus endocarditis is rare. It has been implicated in immunocompromised individuals, especially in intravenous drug users as well as in those with a cardiac prosthesis. The patient was a 31-year-old ex-intravenous drug addict with a past history of staphylococcal pulmonary valve endocarditis, who presented with symptoms of decompensated cardiac failure. Echocardiography showed severe aortic regurgitation with an oscillating vegetation seen on the right coronary cusp of the aortic valve. The blood cultures grew Bacillus cereus. We report this as a rare case of Bacillus cereus endocarditis affecting a native aortic valve.

  20. Aortic valve surgery - minimally invasive

    MedlinePlus

    ... of the heart is reduced. This is called aortic stenosis. The aortic valve can be replaced using: Minimally ... RN, Wang A. Percutaneous heart valve replacement for aortic stenosis: state of the evidence. Ann Intern Med . 2010; ...

  1. The application of autologous pulmonary artery in surgical correction of complicated aortic arch anomaly

    PubMed Central

    Wen, Shusheng; Cen, Jianzheng; Chen, Jimei; Xu, Gang; He, Biaochuan; Teng, Yun

    2016-01-01

    Background In the patients with longer-segment aortic arch hypoplasia or interruption with ventricular septal defect, surgery with homograft vessel or autologous pericardial patch to augment descending aortic arch will not result in adverse reactions caused by end-to-end anastomosis. In this study, we retrospectively analyzed primary experience of surgical correction of complicated aortic arch anomaly with autologous main pulmonary artery. Methods From July 2010 to March 2016, the twenty-one cases of aortic arch complex anomalies were reconstructed with autologous main pulmonary artery. There were 5 patients with interrupted aortic arch and 16 patients with coarctation of aorta. In patients with interrupted aortic arch, anterior wall of main pulmonary artery was excised to form a conduit whose diameter varied according to the area of patient’s body surface. Both ends of the conduit were anastomosed to aortic arch and descending aorta, respectively. In other patients with coarctation of aorta, aortic arch was augmented with tailored pulmonary artery patch in oval shape. The defect of main pulmonary artery was repaired with autologous pericardial patch. Results There was only one patient died of multiple organ failure postoperatively. The other twenty patients survived without any neurologic complications. Differences of blood pressure between upper and lower limbs were not significant in all cases. During follow-up period, the echocardiography for all patients in the third, sixth, twelfth, and twenty-fourth months showed that blood flow in the descending aortic arch was fluent and there was no obvious blood pressure gradient. Conclusions Autologous main pulmonary artery can be used to repair complicated aortic arch anomalies completely without any anastomotic tension or bronchial obstruction postoperatively. This procedure is feasible and possesses predominant early and mid-term effects, and autologous main pulmonary artery can retain growth capacity during follow

  2. Aortobronchial Fistula after Thoracic Endovascular Aortic Repair (TEVAR) for Descending Thoracic Aortic Aneurysm.

    PubMed

    Melvan, John Nicholas; DeLaRosa, Jacob; Vasquez, Julio C

    2017-03-07

    Continued enlargement of the aneurysm sac after thoracic endovascular aortic repair (TEVAR) is a known risk after endovascular treatment of thoracic aortic aneurysms. For this reason, periodic outpatient follow-up is required to identify situations that require repair. Here, we describe an aortobronchial fistula (ABF) in a patient lost to follow-up, that presented 3 years after an elective TEVAR done for a primary, descending thoracic aortic aneurysm. Our patient arrived in extremis and suffered massive hemoptysis leading to her demise. Computed tomography (CT) angiogram near the time of her death demonstrated a bleeding ABF immediately distal to her previous TEVAR repair. Aortic aneurysmal disease remains life threatening even after repair. Improved endovascular techniques and devices have resulted in decreased need for reintervention. However, this case demonstrates the risk of thoracic aortic disease progression and highlights the importance of establishing consistent, long-term follow-up after TEVAR.

  3. Percutaneous balloon aortic valvuloplasty in the era of transcatheter aortic valve implantation: a narrative review

    PubMed Central

    Keeble, Thomas R; Khokhar, Arif; Akhtar, Mohammed Majid; Mathur, Anthony; Weerackody, Roshan; Kennon, Simon

    2016-01-01

    The role of percutaneous balloon aortic valvuloplasty (BAV) in the management of severe symptomatic aortic stenosis has come under the spotlight following the development of the transcatheter aortic valve implantation (TAVI) technique. Previous indications for BAV were limited to symptom palliation and as a bridge to definitive therapy for patients undergoing conventional surgical aortic valve replacement (AVR). In the TAVI era, BAV may also be undertaken to assess the ‘therapeutic response’ of a reduction in aortic gradient in borderline patients often with multiple comorbidities, to assess symptomatic improvement prior to consideration of definitive TAVI intervention. This narrative review aims to update the reader on the current indications and practical techniques involved in undertaking a BAV procedure. In addition, a summary of the haemodynamic and clinical outcomes, as well as the frequently encountered procedural complications is presented for BAV procedures conducted during both the pre-TAVI and post-TAVI era. PMID:28008354

  4. Limb hypoplasia resulting from intrauterine infection with herpes simplex virus: a case report.

    PubMed

    Carola, D; Skibo, M; Cannon, S; Cam, K M; Hyde, P; Aghai, Z H

    2014-11-01

    Intrauterine infection with herpes simplex virus, although very rare, has devastating effects on multiple organ systems in the fetus and can lead to in utero fetal demise. Neonates born following intrauterine herpes simplex virus infection commonly manifest with cutaneous lesions, ocular damage and/or brain abnormalities. We describe the case of a dichorionic, diamniotic twin gestation complicated by intrauterine herpes simplex virus infection. This infection led to the fetal demise of twin A and a very uncommon presentation of limb hypoplasia in twin B.

  5. Surgical management of a hypoplastic distal aortic arch and coarctation of aorta in a patient with Klippel-Feil syndrome, ascending aortic aneurysm and bicuspid aortic valve.

    PubMed

    Sabol, Frantisek; Kolesar, Adrián; Toporcer, Tomás; Bajmoczi, Milan

    2014-10-01

    Klippel-Feil syndrome has been associated with cardiovascular malformations, but only 3 cases have been reported to be associated with aortic coarctation and surgical management is not defined. A 51-year old woman with Klippel-Feil syndrome associated with an aneurysm of the ascending aorta, hypoplastic aortic arch and aortic coarctation at the level of the left subclavian artery presented with shortness of breath 2 years after diagnosis. Imaging identified interim development of a 7.2-cm aneurysm at the level of the aortic coarctation. She underwent surgical repair with a Dacron interposition graft under hypothermic circulatory arrest. She continues to do well 18 months following repair.

  6. Aortic valve replacement in familial hypercholesterolemia: not an ordinary procedure.

    PubMed

    Muretti, Mirko; Massi, Francesco; Coradduzza, Enrico; Portoghese, Michele

    2015-04-28

    Familial hypercholesterolemia is an inherited disorder with incidences of approximately 1:500 and 1:1,000,000 in heterozygous and homozygous form respectively. Affected patients usually show early coronary artery disease and severe aortic root calcification, despite optimization of therapy. We report a case of a 64-year-old woman affected by heterozygous familial hypercholesterolemia which presented dyspnea and anginal symptoms due to a severely calcified aortic root causing valve stenosis and narrowed sinotubular junction. Aortic valve replacement and aortic root enlargement were performed using the Manougian procedure. Even for experiences surgeons, this surgery could prove challenging for this group of patients due to aggressive degenerative tissue calcification of the aortic root, which often presents an extremely calcified aortic valve with a small annulus associated to a narrowed sinotubular junction.

  7. Computer-aided design of the human aortic root.

    PubMed

    Ovcharenko, E A; Klyshnikov, K U; Vlad, A R; Sizova, I N; Kokov, A N; Nushtaev, D V; Yuzhalin, A E; Zhuravleva, I U

    2014-11-01

    The development of computer-based 3D models of the aortic root is one of the most important problems in constructing the prostheses for transcatheter aortic valve implantation. In the current study, we analyzed data from 117 patients with and without aortic valve disease and computed tomography data from 20 patients without aortic valvular diseases in order to estimate the average values of the diameter of the aortic annulus and other aortic root parameters. Based on these data, we developed a 3D model of human aortic root with unique geometry. Furthermore, in this study we show that by applying different material properties to the aortic annulus zone in our model, we can significantly improve the quality of the results of finite element analysis. To summarize, here we present four 3D models of human aortic root with unique geometry based on computational analysis of ECHO and CT data. We suggest that our models can be utilized for the development of better prostheses for transcatheter aortic valve implantation.

  8. Tetralogy of fallot with left heart hypoplasia, total anomalous pulmonary venous return, and right lung hypoplasia: role of magnetic resonance imaging.

    PubMed

    Festa, P; Lamia, A-A; Murzi, B; Bini, M R

    2005-01-01

    We report a rare case of tetralogy of Fallot with total anomalous pulmonary venous return, left heart hypoplasia, right lung hypoplasia, and left ocular-mandibular synchinesia (Marcus-Gunn phenomenon), correctly diagnosed by cardiovascular magnetic resonance imaging and successfully operated by modified Glenn anastomosis.

  9. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

    PubMed

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies.

  10. Lung hypoplasia and patellar agenesis in Ehlers-Danlos syndrome.

    PubMed

    Pradhan, P; Deb, J; Deb, R; Chakrabarti, S

    2009-12-01

    A 22-year-old male patient was admitted with severe cough associated with purulent expectoration, left-sided chest pain and breathlessness. There was a history of recurrent respiratory ailments since childhood. The patient appeared younger than his chronological age. His face and ears were both dysmorphic. Clinically, the patient was diagnosed with Ehlers-Danlos syndrome (EDS). Computed tomography of the thoracic region revealed hypoplasia of the left lung and hyperplasia of the right lung. Both the patellae were absent. However, ultrasonography of his abdomen, echocardiography and other routine blood and urine examination showed no gross abnormalities. Although other respiratory tract abnormalities with EDS are not uncommon, unilateral lung hypoplasia and patellar agenesis in EDS make this case unique.

  11. Acute aortic and mitral valve regurgitation following blunt chest trauma.

    PubMed

    Bernabeu, Eduardo; Mestres, Carlos A; Loma-Osorio, Pablo; Josa, Miguel

    2004-03-01

    Traumatic rupture of intracardiac structures is an uncommon phenomenon although there are a number of reports with regards to rupture of the tricuspid, mitral and aortic valves. We report the case of a 25-year-old patient who presented with acute aortic and mitral valve regurgitation of traumatic origin. Both lesions were seen separated by 2 weeks. Pathophysiology is reviewed. The combination of both aortic and mitral lesions following blunt chest trauma is almost exceptional.

  12. Bovine aortic arch with supravalvular aortic stenosis.

    PubMed

    Idhrees, Mohammed; Cherian, Vijay Thomas; Menon, Sabarinath; Mathew, Thomas; Dharan, Baiju S; Jayakumar, K

    2016-09-01

    A 5-year-old boy was diagnosed to have supravalvular aortic stenosis (SVAS). On evaluation of CT angiogram, there was associated bovine aortic arch (BAA). Association of BAA with SVAS has not been previously reported in literature, and to best of our knowledge, this is the first case report of SVAS with BAA. Recent studies show BAA as a marker for aortopathy. SVAS is also an arteriopathy. In light of this, SVAS can also possibly be a manifestation of aortopathy associated with BAA.

  13. Delayed aortic regurgitation caused by a right coronary stent protruding into the aorta.

    PubMed

    Quintana, Eduard; Mestres, Carlos A; Congiu, Stefano; Josa, Miguel; Cartañá, Ramon

    2009-11-01

    Aortic valve perforation is an extremely rare complication after percutaneous coronary intervention. The case is presented of a 49-year-old male with aortic valve regurgitation secondary to the intra-aortic protrusion of a right coronary stent. The patient had undergone an apparently successful rescue percutaneous transluminal coronary angioplasty with a drug-eluting stent following failed fibrinolysis, but one month later was readmitted for acute pulmonary edema. Further investigations demonstrated new-onset aortic regurgitation. Medical stabilization was achieved and an elective aortic valve replacement and coronary revascularization performed. Intraoperatively, the stent was found to be partially deployed within the aortic lumen, causing perforation to the non-coronary cusp.

  14. Implantation of the CoreValve percutaneous aortic valve.

    PubMed

    Lamarche, Yoan; Cartier, Raymond; Denault, André Y; Basmadjian, Arsène; Berry, Colin; Laborde, Jean-Claude; Bonan, Raoul

    2007-01-01

    Surgical aortic valve replacement is the only recommended treatment for significant aortic valve stenosis. Percutaneous aortic valve replacement appears to be a novel option for high-risk patients. We report the implantation of the ReValving system (CoreValve, Paris, France) in a 64-year-old woman who was refused aortic valve replacement surgery for critical aortic stenosis and left ventricular dysfunction because of severe pulmonary fibrosis. After anesthesia, the patient was put on femorofemoral cardiopulmonary bypass, and underwent a balloon valvuloplasty with subsequent retrograde aortic valve replacement by the ReValving system. Transesophageal echocardiographic monitoring of the patient's hemodynamics showed immediate improvements of the valvular area and left ventricular ejection fraction and only traces of paravalvular leaks. The patient was easily weaned from ventilation and resumed activity soon after the surgery. A multidisciplinary approach is presently necessary to offer a reliable and safe procedure.

  15. Exertional dyspnea as a symptom of infrarenal aortic occlusive disease.

    PubMed

    Schott, Stacey L; Carreiro, Fernanda Porto; Harkness, James R; Malas, Mahmoud B; Sozio, Stephen M; Zakaria, Sammy

    2014-06-01

    Advanced atherosclerosis of the aorta can cause severe ischemia in the kidneys, refractory hypertension, and claudication. However, no previous reports have clearly associated infrarenal aortic stenosis with shortness of breath. A 77-year-old woman with hypertension and hyperlipidemia presented with exertional dyspnea. Despite extensive testing and observation, no apparent cause for this patient's dyspnea was found. Images revealed severe infrarenal aortic stenosis. After the patient underwent stenting of the aortic occlusion, she had immediate symptomatic improvement and complete resolution of her dyspnea within one month. Twelve months after vascular intervention, the patient remained asymptomatic. In view of the distinct and lasting elimination of dyspnea after angioplasty and stenting of a nearly occluded infrarenal aortic lesion, we hypothesize that infrarenal aortic stenosis might be a treatable cause of exertional dyspnea. Clinicians should consider infrarenal aortic stenosis as a possible cause of dyspnea. Treatment of the stenosis might relieve symptoms.

  16. Hypoplasia-associated severe early childhood caries--a proposed definition.

    PubMed

    Caufield, P W; Li, Y; Bromage, T G

    2012-06-01

    We propose a new classification of severe early childhood caries (S-ECC): hypoplasia-associated severe early childhood caries (HAS-ECC). This form of caries affects mostly young children living at or below poverty, characterized by structurally damaged primary teeth that are particularly vulnerable to dental caries. These predisposing developmental dental defects are mainly permutations of enamel hypoplasia (EHP). Anthropologists and dental researchers consider EHP an indicator for infant and maternal stresses including malnutrition, a variety of illnesses, and adverse birthing conditions. Differentiation of HAS-ECC from other forms of early childhood caries is warranted because of its distinct etiology, clinical presentation, and eventual management. Defining HAS-ECC has important clinical implications: Therapies that control or prevent other types of caries are likely to be less effective with HAS-ECC because the structural integrity of the teeth is compromised prior to their emergence into the oral cavity. By the time these children present to the dentist, the treatment options often become limited to surgical management under general anesthesia. To prevent HAS-ECC, dentists must partner with other health providers to develop interventions that begin with pregnant mothers, with the aim of eliminating or ameliorating the covariates accompanying poverty, including better pre- and post-natal care and nutrition.

  17. Sutureless aortic valve replacement

    PubMed Central

    Phan, Kevin

    2015-01-01

    The increasing incidence of aortic stenosis and greater co-morbidities and risk profiles of the contemporary patient population has driven the development of minimally invasive aortic valve surgery and percutaneous transcatheter aortic valve implantation (TAVI) techniques to reduce surgical trauma. Recent technological developments have led to an alternative minimally invasive option which avoids the placement and tying of sutures, known as “sutureless” or rapid deployment aortic valves. Potential advantages for sutureless aortic prostheses include reducing cross-clamp and cardiopulmonary bypass (CPB) duration, facilitating minimally invasive surgery and complex cardiac interventions, whilst maintaining satisfactory hemodynamic outcomes and low paravalvular leak rates. However, given its recent developments, the majority of evidence regarding sutureless aortic valve replacement (SU-AVR) is limited to observational studies and there is a paucity of adequately-powered randomized studies. Recently, the International Valvular Surgery Study Group (IVSSG) has formulated to conduct the Sutureless Projects, set to be the largest international collaborative group to investigate this technology. This keynote lecture will overview the use, the potential advantages, the caveats, and current evidence of sutureless and rapid deployment aortic valve replacement (AVR). PMID:25870807

  18. Gender Differences in Abdominal Aortic Aneurysms

    PubMed Central

    Hannawa, Kevin K.; Eliason, Jonathan L.; Upchurch, Gilbert R.

    2010-01-01

    Abdominal aortic aneurysms (AAAs) comprise the 10th leading cause of death in Caucasian males 65–74 years of age, and accounted for nearly 16,000 deaths overall in the year 2000. Therefore, understanding the pathophysiology of AAAs is an important undertaking. Clinically, multiple risk factors are associated with the development of AAAs, including increasing age, positive smoking history, and hypertension. Male gender is also a well-established risk factor for the development of an AAA with a 4:1 male to female ratio. The reason for this gender disparity is unknown. The pathogenesis of AAAs formation is complex and multifactorial. Histologically, AAAs are characterized by early chemokine driven leukocyte infiltration into the aortic wall. Subsequent destruction of elastin and collagen in the media and adventitia ensues due to excessive local production of matrix degrading enzymes, and is accompanied by smooth muscle cell loss and thinning of the aortic wall. At present, there are no medical therapies available to treat patients with aortic aneurysms, using only the crude measurement of aortic diameter as a threshold for which patients must undergo life-threatening and costly surgery. Defining the early mechanisms underlying gender-related differences in AAA formation are critical, as understanding differences in disease patterns based on gender may allow us to develop new translational approaches to the prevention and treatment of patients with aortic aneurysms. PMID:19426607

  19. Quantification of abdominal aortic deformation after EVAR

    NASA Astrophysics Data System (ADS)

    Demirci, Stefanie; Manstad-Hulaas, Frode; Navab, Nassir

    2009-02-01

    Quantification of abdominal aortic deformation is an important requirement for the evaluation of endovascular stenting procedures and the further refinement of stent graft design. During endovascular aortic repair (EVAR) treatment, the aortic shape is subject to severe deformation that is imposed by medical instruments such as guide wires, catheters, and, the stent graft. This deformation can affect the flow characteristics and morphology of the aorta which have been shown to be elicitors for stent graft failures and be reason for reappearance of aneurysms. We present a method for quantifying the deformation of an aneurysmatic aorta imposed by an inserted stent graft device. The outline of the procedure includes initial rigid alignment of the two abdominal scans, segmentation of abdominal vessel trees, and automatic reduction of their centerline structures to one specified region of interest around the aorta. This is accomplished by preprocessing and remodeling of the pre- and postoperative aortic shapes before performing a non-rigid registration. We further narrow the resulting displacement fields to only include local non-rigid deformation and therefore, eliminate all remaining global rigid transformations. Finally, deformations for specified locations can be calculated from the resulting displacement fields. In order to evaluate our method, experiments for the extraction of aortic deformation fields are conducted on 15 patient datasets from endovascular aortic repair (EVAR) treatment. A visual assessment of the registration results and evaluation of the usage of deformation quantification were performed by two vascular surgeons and one interventional radiologist who are all experts in EVAR procedures.

  20. Interrupted aortic arch: A misdiagnosed cause of hypertension.

    PubMed

    Ponte, Marta; Dias, Adelaide; Dias Ferreira, Nuno; Fonseca, Conceição; Mota, João Carlos; Gama, Vasco

    2014-06-01

    We present the case of a 47-year-old man with hypertension for over 20 years, referred to our hospital due to mild aortic dilatation detected on a transthoracic echocardiogram. On physical examination weak lower limb pulses and a blood pressure differential of >50 mmHg between arms and legs were detected. Complete interruption of the aortic arch below the left subclavian artery was diagnosed by computed tomography angiography. With this case we aim to draw attention to aortic coarctation and interrupted aortic arch as potential causes of hypertension and to highlight the importance of the physical examination in the diagnosis of secondary causes of hypertension.

  1. Endovascular Stent Grafting for Aortic Arch Aneurysm in Aortoiliac Occlusive Disease following Aortic Arch Debranching and Aortobifemoral Reconstruction

    PubMed Central

    Canbay, Cagla; Onal, Yilmaz; Beyaz, Metin Onur; Sayin, Omer Ali; Barburoglu, Mehmet; Yornuk, Mesut; Acunas, Bulent; Alpagut, Ufuk; Dayioglu, Enver

    2017-01-01

    Treatment of thoracic aortic aneurysms constitutes high mortality and morbidity rates despite improvements in surgery, anesthesia, and technology. Endovascular stent grafting may be an alternative therapy with lower risks when compared with conventional techniques. However, sometimes the branches of the aortic arch may require transport to the proximal segments prior to successful thoracic aortic endovascular stent grafting. Atherosclerosis is accounted among the etiology of both aneurysms and occlusive diseases that can coexist in the same patient. In these situations stent grafting may even be more complicated. In this report, we present the treatment of a 92-year-old patient with aortic arch aneurysm and proximal descending aortic aneurysm. For successful thoracic endovascular stent grafting, the patient needed an alternative route other than the native femoral and iliac arteries for the deployment of the stent graft. In addition, debranching of left carotid and subclavian arteries from the aortic arch was also required for successful exclusion of the thoracic aneurysm.

  2. Surgery for supravalvular aortic stenosis - the three-patch technique.

    PubMed

    Arnáiz, Elena; Koolbergen, Dave; Adsuar, Alejandro; Hazekamp, Mark G

    2008-01-01

    The objective of this paper is to describe the three-patch technique for repair of supravalvular aortic stenosis (SVAS). Supravalvular aortic stenosis is a rare malformation as a result of an abnormal thickening of the aortic wall. SVAS may present in two forms: a localized form (affecting only the aortic sinotubular junction) and a diffuse form, where the aortic arch and its side branches are also affected. Since 1960, multiple surgical techniques have been described with the aim of relieving the aortic narrowing and restoring the aortic root. We present the three-patch technique as originally developed by Brom. After transection of the aorta at the sinotubular junction, three longitudinal incisions are made into the three sinuses. The aortic root geometry is then restored by placement of three separate patches of autologous pericardium in the opened sinuses. Brom's technique provides a complete and symmetric restoration of the aortic anatomy. The technique is illustrated by angiographies, surgical drawings, videos and a review of the literature. The results of the three-patch technique are good and our long-term experience will be described.

  3. Aortic Stenosis: Changing Disease Concepts

    PubMed Central

    Rashedi, Nina

    2015-01-01

    Aortic stenosis (AS) occurs in almost 10% of adults over age 80 years with a mortality about 50% at 2 years unless outflow obstruction is relieved by aortic valve replacement (AVR). Development of AS is associated with anatomic, clinical and genetic risk factors including a bicuspid valve in 50%; clinical factors that include older age, hypertension, smoking, diabetes and elevated serum lipoprotein(a) [Lp(a)] levels; and genetic factors such as a polymorphism in the Lp(a) locus. Early stages of AS are characterized by focal areas of leaflet thickening and calcification. The rate of hemodynamic progression is variable but eventual severe AS is inevitable once even mild valve obstruction is present. There is no specific medical therapy to prevent leaflet calcification. Basic principles of medical therapy for asymptomatic AS are patient education, periodic echocardiographic and clinical monitoring, standard cardiac risk factor evaluation and modification and treatment of hypertension or other comorbid conditions. When severe AS is present, a careful evaluation for symptoms is needed, often with an exercise test to document symptom status and cardiac reserve. In symptomatic patients with severe AS, AVR improves survival and relieves symptoms. In asymptomatic patients with severe AS, AVR also is appropriate if ejection fraction is < 50%, disease progression is rapid or AS is very severe (aortic velocity > 5 m/s). The choice of surgical or transcatheter AVR depends on the estimated surgical risk plus other factors such as frailty, other organ system disease and procedural specific impediments. PMID:26140146

  4. [Embolism of the aortic bifurcation and major arteries of limbs: lessons of the past and present-day trends in solving the problem concerned].

    PubMed

    Mel'nikov, M V; Barsukov, A E; Apresian, A Iu; Isaulov, O V

    2013-01-01

    The works deals with a retrospective analysis of the medical records of the Clinic of General Surgery of the North-West State Medical University named after I.I. Mechnikov on treatment of patients presenting with embolism of the aorta and major arteries over 40 years. All in all, over the period from 1971 to 2010 a total of 3,110 patients with embolism of the aorta and major arteries underwent consultations and were operated on. To the present-day trends in surgery of embologenic arterial obstruction one should first of all refer a decrease in the number of patients with embolism of the aorta and major arteries of the limbs, which may be related to achievement in modern cardiology and cardiosurgery in treatment of patients with cardiovascular diseases - potential sources of arterial embolism. Besides, there occurred considerable changes in the structure of embologenic diseases, in favour of an increased number of people suffering from CAD, which to e certain degree modified the incidence of lesions of various vascular basins. Thus, the number of embolisms of proximal portions of the vascular bed decreased considerably. This is largely related to a decrease in the number of patients presenting with decompensated ischaemia of extremities. 86.9% of patients were subjected to emergency operations. An increased number of people with atherosclerosis of peripheral arteries required widening of indications for performing reconstructive-and-plastic operative interventions. Experience of the Clinic shows that a timely performed revascularizing operation, including a reconstructive on, application of modern methods of prevention of ischaemic syndrome, carrying out comprehensive rehabilitation measures in the postoperative period made it possible to considerably improve the immediate results of treatment. While during the first 20 years a total lethality rate amounted to 18.8% with the postoperative one equalling 17.1%, these parameters over the past 10 years were 8.8% and 6

  5. Endovascular Management of Chronic Type B Dissecting Aortic Aneurysm Utilizing Aortic and Renal Stents

    SciTech Connect

    Taylor, J. D. Dunckley, M.; Thompson, M.; Morgan, R. A.

    2008-07-15

    Over the last 10 years endovascular stent-graft placement has been increasingly used to treat complicated acute Type B thoracic aortic dissections. While studies have demonstrated the use of additional aortic stent-grafts to treat continued false lumen perfusion and case reports have detailed the use of renal artery stents to treat renal ischemia related to aortic dissection, to our knowledge the adjuvant use of renal artery stents to reduce false lumen perfusion has not been reported. We present the case of a 72-year-old male who had previously undergone endovascular repair of a complicated Type B thoracic aortic dissection and presented with an expanding false lumen in the peridiaphragmatic aorta despite coverage of the entire thoracic aorta. This was treated by closure of a right renal fenestration using a renal stent.

  6. Aortic Aneurysm Statistics

    MedlinePlus

    ... this? Submit What's this? Submit Button Related CDC Web Sites Heart Disease Stroke High Blood Pressure Salt ... to Prevent and Control Chronic Diseases Million Hearts® Web Sites with More Information About Aortic Aneurysm For ...

  7. Bicuspid aortic valve

    MedlinePlus

    ... stiff and not open up. This is called aortic stenosis , which causes the heart to pump harder than usual to get blood through the valve. The aorta may become enlarged with this condition. BAV is ...

  8. Aortic Endograft Infection by Pasteurella multocida: A Rare Case.

    PubMed

    Jayakrishnan, Thejus T; Keyashian, Brian; Amene, Juliet; Malinowski, Michael

    2016-08-01

    Infection of an aortic endograft is a rare complication following endovascular aneurysm repair. These patients have been treated with explantation of the graft to obtain source control followed by an extra-anatomic bypass to restore circulation. The present case study describes an interesting case of Pasteurella infection involving an aortic endograft managed nonoperatively by percutaneous drainage and graft preservation.

  9. Endovascular Repair of a Blunt Abdominal Aortic Injury

    PubMed Central

    Tobler, William D.; Tan, Tze-Woei; Farber, Alik

    2012-01-01

    Blunt abdominal aortic injury is an uncommon traumatic finding. In the past, treatment options have traditionally consisted of open operative repair; however, the development of endovascular surgery has created new interventional possibilities. This case is presented to demonstrate the applications of endovascular abdominal aortic repair for a blunt traumatic injury. PMID:23730142

  10. Are Aortic Stent Grafts Safe in Pregnancy?

    PubMed Central

    Khandanpour, Nader; Mehta, Tapan A.; Adiseshiah, M.; Meyer, Felicity J.

    2015-01-01

    Aortic stent grafts are increasingly used to treat aortic aneurysms and also other aortic pathologies. The safety of aortic stent grafts in pregnancy has never been studied or reported. We report on two cases of aortic stent grafts in pregnant women and discuss the effect of pregnancy on these aortic stent grafts. PMID:26229702

  11. Ehrlichiosis: a cause of bone marrow hypoplasia in humans.

    PubMed

    Pearce, C J; Conrad, M E; Nolan, P E; Fishbein, D B; Dawson, J E

    1988-05-01

    Infection with Ehrlichia canis should be suspected in patients with fever, headache, malaise, leukopenia, thrombocytopenia, and a history of recent exposure to ticks. The cytopenia is caused by bone marrow hypoplasia which may be severe. The disease may be confused with spotless Rocky Mountain spotted fever but can be differentiated from this infection serologically with acute and convalescent sea. In humans, recovery has occurred with and without antibiotic therapy. However, prompt antibiotic therapy is advised prior to serologic studies, especially in immunocompromised individuals, splenectomized persons, and patients with AIDS-who may develop a more overwhelming rickettsial infection.

  12. Aortic valve leaflet replacement with bovine pericardium to preserve native dynamic capabilities of the aortic annulus.

    PubMed

    Kim, Kyung Hwa; Choi, Jong Bum; Kim, Min Ho; Kim, Won Ho; Lee, Mi Kyung; Lee, Sam Youn

    2014-02-01

    Valve replacement is typically the most appropriate option for treating aortic valve stenotic insufficiency. However, neither mechanical nor bioprosthetic replacement components preserve the circumferential expansion and contraction of a native aortic annulus during the cardiac cycle, because the prosthetic ring is affixed to the annulus. A 64-year-old man presented with a bicuspid and stenotic aortic valve, and the native annulus was too small to accommodate a porcine replacement valve. We fashioned new aortic leaflets from bovine pericardium with use of a template, and we affixed the sinotubular junction with use of inner and outer stabilization rings. Postoperative echocardiograms revealed coaptation of the 3 new leaflets with no regurgitation. At the patient's 5.5-year follow-up examination, echocardiograms showed flexible leaflet movement with a coaptation height of 7 mm, and expansion and contraction of the aortic annulus similar to that of a normal native annulus. The transvalvular pressure gradient was insignificant. If long-term durability of the new leaflets is confirmed, this method of leaflet replacement and fixation of the sinotubular junction might serve as an acceptable alternative to valve replacement in the treatment of aortic valve stenosis. We describe the patient's case and present our methods and observations.

  13. Aortic Valve Leaflet Replacement with Bovine Pericardium to Preserve Native Dynamic Capabilities of the Aortic Annulus

    PubMed Central

    Kim, Kyung Hwa; Kim, Min Ho; Kim, Won Ho; Lee, Mi Kyung; Lee, Sam Youn

    2014-01-01

    Valve replacement is typically the most appropriate option for treating aortic valve stenotic insufficiency. However, neither mechanical nor bioprosthetic replacement components preserve the circumferential expansion and contraction of a native aortic annulus during the cardiac cycle, because the prosthetic ring is affixed to the annulus. A 64-year-old man presented with a bicuspid and stenotic aortic valve, and the native annulus was too small to accommodate a porcine replacement valve. We fashioned new aortic leaflets from bovine pericardium with use of a template, and we affixed the sinotubular junction with use of inner and outer stabilization rings. Postoperative echocardiograms revealed coaptation of the 3 new leaflets with no regurgitation. At the patient's 5.5-year follow-up examination, echocardiograms showed flexible leaflet movement with a coaptation height of 7 mm, and expansion and contraction of the aortic annulus similar to that of a normal native annulus. The transvalvular pressure gradient was insignificant. If long-term durability of the new leaflets is confirmed, this method of leaflet replacement and fixation of the sinotubular junction might serve as an acceptable alternative to valve replacement in the treatment of aortic valve stenosis. We describe the patient's case and present our methods and observations. PMID:24512414

  14. [Double aortic arch with dominant left arch: case report].

    PubMed

    Ece, Ibrahim; Paç, Feyza Ayşenur; Paç, Mustafa; Ballı, Sevket

    2012-09-01

    A vascular ring is defined as an anomaly of the great arteries (aortic arch and its branches) that compresses the trachea or esophagus. Double aortic arch is the most common vascular ring. Double aortic arch is very rare and typically becomes symptomatic in infancy or early childhood. We present a 7-year-old girl admitted to our clinic for evaluation of recurrent respiratory infection with dysphagia. Double aortic arch was suspected from echocardiography and diagnosed with cardiac computed tomography. Left aortic arcus was larger than the right at computed tomography and cardiac catheterisation. After surgery the symptoms improved strikingly. We conclude that vascular ring should be considered in the patients presenting with recurrent pulmonary infections and dysphagia. Early diagnosis and treatment may prevent chronic, irreversible complications.

  15. Congenital torticollis due to sternomastoid aplasia with unilateral cerebellar hypoplasia: a rare association.

    PubMed

    Kumar, V R Ravi; Sabapathy, S Raja; Duraisami, Vijayagiri

    2012-10-01

    Congenital torticollis is most commonly caused by sternomastoid contracture. Aplasia of sternomastoid muscle causing congenital torticollis, though rare, has been reported. However the association of cerebellar hypoplasia with sternomastoid aplasia is extremely rare. The authors describe a case of congenital torticollis due to absence of the left sternomastoid with ipsilateral cerebellar hypoplasia, confirmed by MRI.

  16. Aortic aneurysm repair - endovascular- discharge

    MedlinePlus

    ... MRI scan Aortic aneurysm repair - endovascular Aortic angiography Hardening of ... Center-Shreveport, Shreveport, LA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla ...

  17. Abdominal aortic feminism.

    PubMed

    Mortimer, Alice Emily

    2014-11-14

    A 79-year-old woman presented to a private medical practice 2 years previously for an elective ultrasound screening scan. This imaging provided the evidence for a diagnosis of an abdominal aortic aneurysm (AAA) to be made. Despite having a number of recognised risk factors for an AAA, her general practitioner at the time did not follow the guidance set out by the private medical professional, that is, to refer the patient to a vascular specialist to be entered into a surveillance programme and surgically evaluated. The patient became symptomatic with her AAA, was admitted to hospital and found to have a tender, symptomatic, 6 cm leaking AAA. She consented for an emergency open AAA repair within a few hours of being admitted to hospital, despite the 50% perioperative mortality risk. The patient spent 4 days in intensive care where she recovered well. She was discharged after a 12 day hospital stay but unfortunately passed away shortly after her discharge from a previously undiagnosed gastric cancer.

  18. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  19. Research of Customized Aortic Stent Graft Manufacture

    NASA Astrophysics Data System (ADS)

    Zhang, Lei; Chen, Xin; Liu, Muhan

    2017-03-01

    Thoracic descending aorta diseases include aortic dissection and aortic aneurysm, of which the natural mortality rate is extremely high. At present, endovascular aneurysm repair (EVAR) has been widely used as an effective means for the treatment of descending aortic disease. Most of the existing coating stents are standard design, which are unable to meet the size or structure of different patients. As a result, failure of treatment would be caused by dimensional discrepancy between stent and vessels, which could lead to internal leakage or rupture of blood vessels. Therefore, based on rapid prototyping sacrificial core – coating forming (RPSC-CF), a customized aortic stent graft manufactured technique has been proposed in this study. The aortic stent graft consists of film and metallic stent, so polyether polyurethane (PU) and nickel-titanium (NiTi) shape memory alloy with good biocompatibility were chosen. To minimum film thickness without degrading performance, effect of different dip coating conditions on the thickness of film were studied. To make the NiTi alloy exhibit super-elasticity at body temperature (37°C), influence of different heat treatment conditions on austenite transformation temperature (Af) and mechanical properties were studied. The results show that the customized stent grafts could meet the demand of personalized therapy, and have good performance in blasting pressure and radial support force, laying the foundation for further animal experiment and clinical experiment.

  20. Tracheal replacement with an aortic autograft.

    PubMed

    Azorin, Jacques F; Bertin, Francois; Martinod, Emmanuel; Laskar, Marc

    2006-02-01

    Tracheal replacement after extensive resection remains a challenge for the thoracic surgeon. We propose an innovative solution: the use of an aortic autograft. After an experimental work on animals with aortic autografts and allografts [Martinod E, Seguin A, Pfeuty K, Fornes P, Kambouchner M, Azorin JF, Carpentier AF. Long-term evaluation of the replacement of the trachea with an autologous aortic graft. Ann Thorac Surg 2003;75(5):1572-8; Martinod E, Seguin A, Holder-Espinasse M, Kambouchner M, Duterque-Coquillaud M, Azorin JF, Carpentier AF. Tracheal regeneration following tracheal replacement with an allogenic aorta. Ann Thorac Surg 2005;79(3):942-8], we present the first human case of long tracheal replacement with an aortic autograft. In this case we replaced 7 cm of a tumoral trachea using an aortic infra-renal autograft supported by a silicone stent. The early postoperative course was uneventful. The stent was removed at three months. The patient died at six months from an acute pulmonary infection without any sign of anastomosis leakage or graft rupture. A new field of clinical study has to be investigated.

  1. Acute aortic syndromes: pathophysiology and management.

    PubMed

    Alli, Oluseun; Jacobs, Larry; Amanullah, Aman M

    2008-01-01

    The acute aortic syndromes carry significant morbidity and mortality, especially when detected late. Symptoms may mimic myocardial ischemia, and physical findings may be absent or, if present, can be suggestive of a diverse range of other conditions. Maintaining a high clinical index of suspicion is crucial in establishing the diagnosis. All patients with suspected aortic disease and evidence of acute ischemia on electrocardiogram should undergo diagnostic imaging studies before thrombolytics are administered. The demonstration of an intimal flap separating 2 lumina is the basis for diagnosis. Tear detection and localization are very important because any therapeutic intervention aims to occlude the entry tear. The goals of medical therapy are to reduce the force of left ventricular contractions, decrease the steepness of the rise of the aortic pulse wave, and reduce the systemic arterial pressure to as low a level as possible without compromising perfusion of vital organs. Surgical therapy still remains the gold standard of care for type A aortic dissection, whereas in type B dissection, percutaneous aortic stenting and fenestration techniques have been developed and are sometimes used in conjunction with medical therapy in certain situations.

  2. Turner's tooth with unique radiographic presentation: a case report.

    PubMed

    Lakshman, Anusha Rangare; Kanneppady, Sham Kishor; Castelino, Renita Lorina

    2014-01-01

    Hypoplasia--the result of a disruption in the enamel matrix formation process--causes a defect in the quality and thickness of enamel. Enamel formation is a complex and highly regulated process. Enamel defects have been associated with a broad spectrum of etiologies, including genetic, epigenetic, systemic, local, and environmental factors. An enamel defect in the permanent teeth caused by periapical inflammatory disease in the overlying primary tooth is referred to as Turner's tooth (also known as Turner's hypoplasia). This article presents a case of Turner's hypoplasia of the first mandibular premolar, with an unusual radiographic presentation.

  3. Robotic aortic surgery.

    PubMed

    Duran, Cassidy; Kashef, Elika; El-Sayed, Hosam F; Bismuth, Jean

    2011-01-01

    Surgical robotics was first utilized to facilitate neurosurgical biopsies in 1985, and it has since found application in orthopedics, urology, gynecology, and cardiothoracic, general, and vascular surgery. Surgical assistance systems provide intelligent, versatile tools that augment the physician's ability to treat patients by eliminating hand tremor and enabling dexterous operation inside the patient's body. Surgical robotics systems have enabled surgeons to treat otherwise untreatable conditions while also reducing morbidity and error rates, shortening operative times, reducing radiation exposure, and improving overall workflow. These capabilities have begun to be realized in two important realms of aortic vascular surgery, namely, flexible robotics for exclusion of complex aortic aneurysms using branched endografts, and robot-assisted laparoscopic aortic surgery for occlusive and aneurysmal disease.

  4. Familial Thoracic Aortic Aneurysms and Dissections: Identification of a Novel Locus for Stable Aneurysms with a Low Risk for Progression to Aortic Dissection

    PubMed Central

    Guo, Dong-Chuan; Regalado, Ellen S.; Minn, Charles; Tran-Fadulu, Van; Coney, Joshua; Cao, Jiumei; Wang, Min; Yu, Robert K.; Estrera, Anthony L.; Safi, Hazim J.; Shete, Sanjay S.; Milewicz, Dianna M.

    2013-01-01

    Background Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. Approximately 20% of patients with TAAD have a family history of TAAD, and these patients present younger with more rapidly enlarging aneurysms than patients without a family history of aortic disease. Methods and Results A large family with multiple members with TAAD inherited in an autosomal dominant manner was identified. The ascending aortic aneurysms were associated with slow enlargement, a low risk of dissection, and decreased penetrance in women. Genome-wide linkage analysis was performed and a novel locus on chromosome 12 was identified for the mutant gene causing disease in this family. Of the 12 male members who carry the disease-linked microsatellite haplotype, nine had ascending aortic aneurysms with an average diameter of 4.7 cm and average age of 55 years (age range, 32-76) at the time of diagnosis; only one individual had progressed to acute aortic dissection and no other members with aortic dissections were identified. Women harboring the disease-linked haplotype did not have thoracic aortic disease, including an 84 year old woman. Sequencing of 9 genes within the critical interval at the chromosome 12 locus did not identify the mutant gene. Conclusion Mapping a locus for ascending thoracic aortic aneurysms associated with a low risk of aortic dissection supports our hypothesis that genes leading to familial disease can be associated with less aggressive thoracic aortic disease. PMID:21163914

  5. Chronic Type A Aortic Dissection and Giant Aortic Root Aneurysm After Aortic Valve Replacement

    PubMed Central

    Puga, Andrés Enríquez; Rodríguez, Sara Castaño; Pañero, Blanca Mateos; Moreira, Beatriz Castaño; López Almodóvar, Luis Fernando

    2016-01-01

    We describe the case of a 61-year-old male with a giant aortic root aneurysm associated with chronic aortic Type A dissection. The patient had been operated on 16 years before due to aortic annuloectasia with mechanical valve replacement. The patient underwent revision aortic surgery with a Bentall-De Bono operation with Svensson modification, using a #21 On-X Valsalva mechanical valve conduit. The postoperative course was uneventful. PMID:28097190

  6. Acute aortic syndromes: definition, prognosis and treatment options.

    PubMed

    Carpenter, S W; Kodolitsch, Y V; Debus, E S; Wipper, S; Tsilimparis, N; Larena-Avellaneda, A; Diener, H; Kölbel, T

    2014-04-01

    Acute aortic syndromes (AAS) are life-threatening vascular conditions of the thoracic aorta presenting with acute pain as the leading symptom in most cases. The incidence is approximately 3-5/100,000 in western countries with increase during the past decades. Clinical suspicion for AAS requires immediate confirmation with advanced imaging modalities. Initial management of AAS addresses avoidance of progression by immediate medical therapy to reduce aortic shear stress. Proximal symptomatic lesions with involvement of the ascending aorta are surgically treated in the acute setting, whereas acute uncomplicated distal dissection should be treated by medical therapy in the acute period, followed by surveillance and repeated imaging studies. Acute complicated distal dissection requires urgent invasive treatment and thoracic endovascular aortic repair has become the treatment modality of choice because of favorable outcomes compared to open surgical repair. Intramural hematoma, penetrating aortic ulcers, and traumatic aortic injuries of the descending aorta harbor specific challenges compared to aortic dissection and treatment strategies are not as uniformly defined as in aortic dissection. Moreover these lesions have a different prognosis. Once the acute period of aortic syndrome has been survived, a lifelong medical treatment and close surveillance with repeated imaging studies is essential to detect impending complications which might need invasive treatment within the short-, mid- or long-term.

  7. FBN1 Mutations in Patients With Descending Thoracic Aortic Dissections

    PubMed Central

    Brautbar, Ariel; LeMaire, Scott A.; Franco, Luis M.; Coselli, Joseph S.; Milewicz, Dianna M.; Belmont, John W.

    2013-01-01

    Aortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection. In this report, we describe three patients who presented with primary descending thoracic aortic dissection and who were found to have an FBN1 mutation. None of the patients fulfilled clinical criteria for the diagnosis of MFS, and all had few or none of the skeletal features typical of the condition. Two patients had a history of long-term hypertension, and such a history was suspected in the third patient. These observations suggest that some individuals with FBN1 mutations have significant aortic disease involvement of other systems that is typical of FBN1 mutation-related syndromes. Superimposed risk factors, such as hypertension, may weaken the aortic wall and eventually lead to aortic dissection. Given that the cost continues to decrease, we suggest that diagnostic DNA sequencing for FBN1 mutations in patients with thoracic aortic aneurysms and dissection may be a practical clinical step in evaluating such patients and at-risk family members. PMID:20082464

  8. Adventitial vasa vasorum arteriosclerosis in abdominal aortic aneurysm.

    PubMed

    Tanaka, Hiroki; Zaima, Nobuhiro; Sasaki, Takeshi; Hayasaka, Takahiro; Goto-Inoue, Naoko; Onoue, Kenji; Ikegami, Koji; Morita, Yoshifumi; Yamamoto, Naoto; Mano, Yuuki; Sano, Masaki; Saito, Takaaki; Sato, Kohji; Konno, Hiroyuki; Setou, Mitsutoshi; Unno, Naoki

    2013-01-01

    Abdominal aortic aneurysm (AAA) is a common disease among elderly individuals. However, the precise pathophysiology of AAA remains unknown. In AAA, an intraluminal thrombus prevents luminal perfusion of oxygen, allowing only the adventitial vaso vasorum (VV) to deliver oxygen and nutrients to the aortic wall. In this study, we examined changes in the adventitial VV wall in AAA to clarify the histopathological mechanisms underlying AAA. We found marked intimal hyperplasia of the adventitial VV in the AAA sac; further, immunohistological studies revealed proliferation of smooth muscle cells, which caused luminal stenosis of the VV. We also found decreased HemeB signals in the aortic wall of the sac as compared with those in the aortic wall of the neck region in AAA. The stenosis of adventitial VV in the AAA sac and the malperfusion of the aortic wall observed in the present study are new aspects of AAA pathology that are expected to enhance our understanding of this disease.

  9. 3D image analysis of abdominal aortic aneurysm

    NASA Astrophysics Data System (ADS)

    Subasic, Marko; Loncaric, Sven; Sorantin, Erich

    2002-05-01

    This paper presents a method for 3-D segmentation of abdominal aortic aneurysm from computed tomography angiography images. The proposed method is automatic and requires minimal user assistance. Segmentation is performed in two steps. First inner and then outer aortic border is segmented. Those two steps are different due to different image conditions on two aortic borders. Outputs of these two segmentations give a complete 3-D model of abdominal aorta. Such a 3-D model is used in measurements of aneurysm area. The deformable model is implemented using the level-set algorithm due to its ability to describe complex shapes in natural manner which frequently occur in pathology. In segmentation of outer aortic boundary we introduced some knowledge based preprocessing to enhance and reconstruct low contrast aortic boundary. The method has been implemented in IDL and C languages. Experiments have been performed using real patient CTA images and have shown good results.

  10. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

    PubMed Central

    Miyake, Tomoko; Kojima, Shota; Sugiyama, Tetsuya; Ueki, Mari; Sugasawa, Jun; Oku, Hidehiro; Tajiri, Kensuke; Shigemura, Yuka; Ueda, Koichi; Harada, Atsuko; Yamasaki, Mami; Yamanaka, Takumi; Utsunomiya, Hidetsuna; Ikeda, Tsunehiko

    2016-01-01

    Introduction The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. Case report A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins) and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen® XL (Reichert Technologies, Depew, NY, USA) handheld applanation tonometer revealed that her intraocular pressure was 11–22 mmHg (Oculus Dexter) and 8 mmHg (Oculus Sinister). B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15–16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound biomicroscopy revealed that almost all directions were open except for the peripheral anterior synechia. Since magnetic resonance imaging revealed ventriculomegaly associated with an interhemispheric cyst at birth, a ventriculoperitoneal shunt was inserted at 12 days of age. At 25 months of age, her condition suddenly deteriorated due to occlusion of the ventricular shunt catheter, and she died 5 days later. In this patient, amniotic band syndrome was presumed to be the primary cause due to the clinical findings. Conclusion We experienced a case of optic-nerve hypoplasia and anterior segment abnormality that occurred with facial cleft. The cause of these

  11. Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

    PubMed Central

    Stoll, Marion; Teoh, Hooiling; Lee, James; Reddel, Stephen; Zhu, Ying; Buckley, Michael; Sampaio, Hugo; Roscioli, Tony; Farrar, Michelle

    2016-01-01

    Objective: To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation. Methods: VRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders. Results: We identified pathogenic mutations in the VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). In family 2, a novel VRK1 mutation, c.403G>A; p.G135R and c.583T>G; p.L195V, were identified in a child with motor neuron disease. Conclusions: VRK1 mutations can produce adult-onset SMA and motor neuron disease in children without pontocerebellar hypoplasia. PMID:27281532

  12. Hypodontia and hypoplasia of mandible: A rare defect caused by combination therapy

    PubMed Central

    Kumar, Senthil; Mahabob, Nazargi

    2013-01-01

    Hypodontia is defined as the developmental absence of one or more tooth and it can present in varying degrees of severity and severe hypodontia has been defined as the absence of six teeth, excluding third molars. Radiation plays an important role in the treatment of head and neck cancer, in spite of its benefits, radiation has several side-effects in the head and neck region. This article highlights a case report, where hypodontia, hypoplasia of mandible, stunded permanent teeth roots, microdontia, inversion of tooth bud were observed in 19 years old patient who was diagnosed with Langerhans cell histiocytosis at her age of 3 years she had received a combination of radiotherapy and chemotherapy for a period of 1 year and radiation of 50 Gy was used in the head and neck region. Radiographs were taken and it revealed abnormal changes in growth and development of bone and teeth. PMID:23956604

  13. New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

    PubMed Central

    Zaki, Maha S; Salam, Ghada M H Abdel; Saleem, Sahar N; Dobyns, William B; Issa, Mahmoud Y; Sattar, Shifteh; Gleeson, Joseph G

    2011-01-01

    We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc. PMID:22002884

  14. Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature

    PubMed Central

    Lopez-Porras, Rocío F.; Arroyo, Carlos; Soto-Vega, Elena

    2011-01-01

    Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th-6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia. PMID:21941481

  15. A bovine aortic arch in humans

    PubMed Central

    Arnáiz-García, María Elena; González-Santos, Jose María; López-Rodriguez, Javier; Dalmau-Sorli, María José; Bueno-Codoñer, María; Arévalo-Abascal, Adolfo; Fdez García-Hierro, Jose Ma; Arnáiz-García, Ana María; Arnáiz, Javier

    2014-01-01

    We describe a curious congenital variation of human aortic arch (AA) branching pattern termed the “bovine aortic arch”. Rather than arising directly from the AA as a separate branch as occurs in the most common AA branching pattern, the left common carotid artery moves to the right and merges from the brachiocephalic trunk. It is the normal AA branching pattern presented in a number of animals (canines, felines or Macaque monkeys) but it has nothing to do with anatomy of AA in ruminant animals, including cattle and buffalo. That is why it is one of the most widely misnomers used in medical literature whose origin is nowadays unknown. PMID:24973853

  16. A bovine aortic arch in humans.

    PubMed

    Arnáiz-García, María Elena; González-Santos, Jose María; López-Rodriguez, Javier; Dalmau-Sorli, María José; Bueno-Codoñer, María; Arévalo-Abascal, Adolfo; Fdez García-Hierro, Jose Ma; Arnáiz-García, Ana María; Arnáiz, Javier

    2014-01-01

    We describe a curious congenital variation of human aortic arch (AA) branching pattern termed the "bovine aortic arch". Rather than arising directly from the AA as a separate branch as occurs in the most common AA branching pattern, the left common carotid artery moves to the right and merges from the brachiocephalic trunk. It is the normal AA branching pattern presented in a number of animals (canines, felines or Macaque monkeys) but it has nothing to do with anatomy of AA in ruminant animals, including cattle and buffalo. That is why it is one of the most widely misnomers used in medical literature whose origin is nowadays unknown.

  17. Idiopathic thoracic aortic aneurysm at pediatric age.

    PubMed

    Marín-Manzano, E; González-de-Olano, D; Haurie-Girelli, J; Herráiz-Sarachaga, J I; Bermúdez-Cañete, R; Tamariz-Martel, A; Cuesta-Gimeno, C; Pérez-de-León, J

    2009-03-01

    A 6-year-old-boy presented with epigastric pain and vomiting over 1 year. Chest X-ray and esophagogastric transit showed a mediastinal mass. A chest computerized tomography angiogram demonstrated a descending thoracic aortic aneurysm. Analytical determinations carried out were all negative. The aneurysm was surgically repaired using a Dacron patch. The anatomopathological study described atherosclerotic lesions with calcifications, compatible with an atherosclerotic aneurysm wall. Aneurysms are uncommon in the pediatric population. Usually, no pathogenesis can be determined, and thus, such cases are grouped as idiopathic. Direct repair with or without patch is a therapeutic alternative in pediatric aneurysms and can allow the growth of the aortic circumference.

  18. Mitral and aortic regurgitation following transcatheter aortic valve replacement

    PubMed Central

    Szymański, Piotr; Hryniewiecki, Tomasz; Dąbrowski, Maciej; Sorysz, Danuta; Kochman, Janusz; Jastrzębski, Jan; Kukulski, Tomasz; Zembala, Marian

    2016-01-01

    Objective To analyse the impact of postprocedural mitral regurgitation (MR), in an interaction with aortic regurgitation (AR), on mortality following transcatheter aortic valve implantation (TAVI). Methods To assess the interaction between MR and AR, we compared the survival rate of patients (i) without both significant MR and AR versus (ii) those with either significant MR or significant AR versus (iii) with significant MR and AR, all postprocedure. 381 participants of the Polish Transcatheter Aortic Valve Implantation Registry (166 males (43.6%) and 215 females (56.4%), age 78.8±7.4 years) were analysed. Follow-up was 94.1±96.5 days. Results Inhospital and midterm mortality were 6.6% and 10.2%, respectively. Significant MR and AR were present in 16% and 8.1% patients, including 3.1% patients with both significant MR and AR. Patients with significant versus insignificant AR differed with respect to mortality (log rank p=0.009). This difference was not apparent in a subgroup of patients without significant MR (log rank p=0.80). In a subgroup of patients without significant AR, there were no significant differences in mortality between individuals with versus without significant MR (log rank p=0.44). Significant MR and AR had a significant impact on mortality only when associated with each other (log rank p<0.0001). At multivariate Cox regression modelling concomitant significant MR and AR were independently associated with mortality (OR 3.2, 95% CI 1.54 to 5.71, p=0.002). Conclusions Significant MR or AR postprocedure, when isolated, had no impact on survival. Combined MR and AR had a significant impact on a patient's prognosis. PMID:26908096

  19. Injuries to the Aorta, Aortic Annulus, and Left Ventricle During Transcatheter Aortic Valve Replacement: Management and Outcomes.

    PubMed

    Langer, Nathaniel B; Hamid, Nadira B; Nazif, Tamim M; Khalique, Omar K; Vahl, Torsten P; White, Jonathon; Terre, Juan; Hastings, Ramin; Leung, Diana; Hahn, Rebecca T; Leon, Martin; Kodali, Susheel; George, Isaac

    2017-01-01

    The experience with transcatheter aortic valve replacement is increasing worldwide; however, the incidence of potentially catastrophic cardiac or aortic complications has not decreased. In most cases, significant injuries to the aorta, aortic valve annulus, and left ventricle require open surgical repair. However, the transcatheter aortic valve replacement patient presents a unique challenge as many patients are at high or prohibitive surgical risk and, therefore, an open surgical procedure may not be feasible or appropriate. Consequently, prevention of these potentially catastrophic injuries is vital, and practitioners need to understand when open surgical repair is required and when alternative management strategies can be used. The goal of this article is to provide an overview of current management and prevention strategies for major complications involving the aorta, aortic valve annulus, and left ventricle.

  20. [Albert Einstein and his abdominal aortic aneurysm].

    PubMed

    Cervantes Castro, Jorge

    2011-01-01

    The interesting case of Albert Einstein's abdominal aortic aneurysm is presented. He was operated on at age 69 and, finding that the large aneurysm could not be removed, the surgeon elected to wrap it with cellophane to prevent its growth. However, seven years later the aneurysm ruptured and caused the death of the famous scientist.

  1. Aortic aneurysm mimicking a right atrial mass.

    PubMed

    Mohamed, Ahmed; Elsayed, Mahmoud; Kalra, Rajat; Bulur, Serkan; Nanda, Navin C

    2016-10-01

    We present a case of a 54-year-old female who was initially thought to have a cystic mass in the right atrium on two-dimensional transthoracic echocardiography. Careful transducer angulation and off-axis imaging showed this mass-like effect was produced by an aortic root aneurysm impinging on the right atrium.

  2. Fatal Saccharomyces Cerevisiae Aortic Graft Infection

    NASA Technical Reports Server (NTRS)

    Meyer, Michael (Technical Monitor); Smith, Davey; Metzgar, David; Wills, Christopher; Fierer, Joshua

    2002-01-01

    Saccharomyces cerevisiae is a yeast commonly used in baking and a frequent colonizer of human mucosal surfaces. It is considered relatively nonpathogenic in immunocompetent adults. We present a case of S. cerevisiae fungemia and aortic graft infection in an immunocompetent adult. This is the first reported case of S. cerevisiue fungemia where the identity of the pathogen was confirmed by rRNA sequencing.

  3. Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.

    PubMed

    Shah, Krupa; Shah, Hitesh

    2016-08-16

    Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature.

  4. Aortic Input Impedance during Nitroprusside Infusion

    PubMed Central

    Pepine, Carl J.; Nichols, W. W.; Curry, R. C.; Conti, C. Richard

    1979-01-01

    Beneficial effects of nitroprusside infusion in heart failure are purportedly a result of decreased afterload through “impedance” reduction. To study the effect of nitroprusside on vascular factors that determine the total load opposing left ventricular ejection, the total aortic input impedance spectrum was examined in 12 patients with heart failure (cardiac index <2.0 liters/min per m2 and left ventricular end diastolic pressure >20 mm Hg). This input impedance spectrum expresses both mean flow (resistance) and pulsatile flow (compliance and wave reflections) components of vascular load. Aortic root blood flow velocity and pressure were recorded continuously with a catheter-tip electromagnetic velocity probe in addition to left ventricular pressure. Small doses of nitroprusside (9-19 μg/min) altered the total aortic input impedance spectrum as significant (P < 0.05) reductions in both mean and pulsatile components were observed within 60-90 s. With these acute changes in vascular load, left ventricular end diastolic pressure declined (44%) and stroke volume increased (20%, both P < 0.05). Larger nitroprusside doses (20-38 μg/min) caused additional alteration in the aortic input impedance spectrum with further reduction in left ventricular end diastolic pressure and increase in stroke volume but no additional changes in the impedance spectrum or stroke volume occurred with 39-77 μg/min. Improved ventricular function persisted when aortic pressure was restored to control values with simultaneous phenylephrine infusion in three patients. These data indicate that nitroprusside acutely alters both the mean and pulsatile components of vascular load to effect improvement in ventricular function in patients with heart failure. The evidence presented suggests that it may be possible to reduce vascular load and improve ventricular function independent of aortic pressure reduction. PMID:457874

  5. Subcoronary versus supracoronary aortic stenosis. an experimental evaluation

    PubMed Central

    2011-01-01

    Background Valvular aortic stenosis is the most common cause of left ventricular hypertrophy due to gradually increasing pressure work. As the stenosis develop the left ventricular hypertrophy may lead to congestive heart failure, increased risk of perioperative complications and also increased risk of sudden death. A functional porcine model imitating the pathophysiological nature of valvular aortic stenosis is very much sought after in order to study the geometrical and pathophysiological changes of the left ventricle, timing of surgery and also pharmacological therapy in this patient group. Earlier we developed a porcine model for aortic stenosis based on supracoronary aortic banding, this model may not completely imitate the pathophysiological changes that occurs when valvular aortic stenosis is present including the coronary blood flow. It would therefore be desirable to optimize this model according to the localization of the stenosis. Methods In 20 kg pigs subcoronary (n = 8), supracoronary aortic banding (n = 8) or sham operation (n = 4) was preformed via a left lateral thoracotomy. The primary endpoint was left ventricular wall thickness; secondary endpoints were heart/body weight ratio and the systolic/diastolic blood flow ratio in the left anterior descending coronary. Statistical evaluation by oneway anova and unpaired t-test. Results Sub- and supracoronary banding induce an equal degree of left ventricular hypertrophy compared with the control group. The coronary blood flow ratio was slightly but not significantly higher in the supracoronary group (ratio = 0.45) compared with the two other groups (subcoronary ratio = 0.36, control ratio = 0.34). Conclusions A human pathophysiologically compatible porcine model for valvular aortic stenosis was developed by performing subcoronary aortic banding. Sub- and supracoronary aortic banding induce an equal degree of left ventricular hypertrophy. This model may be valid for experimental investigations of aortic

  6. Critical Transitions in Early Embryonic Aortic Arch Patterning and Hemodynamics

    PubMed Central

    Kowalski, William J.; Dur, Onur; Wang, Yajuan; Patrick, Michael J.; Tinney, Joseph P.; Keller, Bradley B.; Pekkan, Kerem

    2013-01-01

    Transformation from the bilaterally symmetric embryonic aortic arches to the mature great vessels is a complex morphogenetic process, requiring both vasculogenic and angiogenic mechanisms. Early aortic arch development occurs simultaneously with rapid changes in pulsatile blood flow, ventricular function, and downstream impedance in both invertebrate and vertebrate species. These dynamic biomechanical environmental landscapes provide critical epigenetic cues for vascular growth and remodeling. In our previous work, we examined hemodynamic loading and aortic arch growth in the chick embryo at Hamburger-Hamilton stages 18 and 24. We provided the first quantitative correlation between wall shear stress (WSS) and aortic arch diameter in the developing embryo, and observed that these two stages contained different aortic arch patterns with no inter-embryo variation. In the present study, we investigate these biomechanical events in the intermediate stage 21 to determine insights into this critical transition. We performed fluorescent dye microinjections to identify aortic arch patterns and measured diameters using both injection recordings and high-resolution optical coherence tomography. Flow and WSS were quantified with 3D computational fluid dynamics (CFD). Dye injections revealed that the transition in aortic arch pattern is not a uniform process and multiple configurations were documented at stage 21. CFD analysis showed that WSS is substantially elevated compared to both the previous (stage 18) and subsequent (stage 24) developmental time-points. These results demonstrate that acute increases in WSS are followed by a period of vascular remodeling to restore normative hemodynamic loading. Fluctuations in blood flow are one possible mechanism that impacts the timing of events such as aortic arch regression and generation, leading to the variable configurations at stage 21. Aortic arch variations noted during normal rapid vascular remodeling at stage 21 identify a

  7. Linear enamel hypoplasia in gibbons (Hylobates lar carpenteri).

    PubMed

    Guatelli-Steinberg, D

    2000-07-01

    This study describes the expression of linear enamel hypoplasia (LEH), a sensitive dental indicator of physiological stress, in Thailand gibbons (Hylobates lar carpenteri). Previous studies of enamel hypoplasia in hominoids have focused on great apes, with little attention given to the expression of this stress indicator in gibbons. In that gibbons differ from both monkeys and great apes in numerous life history features, LEH expression in gibbons might be expected to show significant differences from both. In this study, 92 gibbon specimens from two sites in Thailand were compared with several samples of monkeys and great apes in their expression of LEH. The intertooth distribution of LEH in gibbons was compared to that of chimpanzees and rhesus monkeys. Gibbon populations from both sites exhibit LEH frequencies intermediate between those of the monkey samples, in which LEH prevalence is usually low, and those of the great ape samples, in which LEH prevalence is high. Gibbons differ significantly from monkeys, but not great apes, in the number of individuals whose teeth record multiple stress events. Multiple episodes of stress are rarely recorded in the teeth of monkeys, while multiple stress events occur with higher frequency in gibbons and great apes. Taxonomic variation in the duration of crown formation, the prominence and spacing of perikymata on dental crowns, life history features, and/or experience of physiological stress may explain these patterns. The intertooth distribution of LEH in gibbons is, for different reasons, unlike that of either chimpanzees or rhesus monkeys. The mandibular canines of gibbons have significantly more LEH than any of their other teeth. Aspects of crown morphology, perikymata prominence/spacing, enamel thickness, and crown formation spans are potential causes of taxonomic variation in the intertooth distribution of LEH.

  8. Aortic coarctation with persistent fifth left aortic arch.

    PubMed

    Santoro, Giuseppe; Caianiello, Giuseppe; Palladino, Maria Teresa; Iacono, Carola; Russo, Maria Giovanna; Calabrò, Raffaele

    2009-08-14

    A neonate with severe aortic coarctation showed a double lumen transverse aorta (persistent fifth aortic arch) with both channels joining at the isthmus where the obstruction was confirmed by echocardiography and cardiac catheterization. Surgical repair was performed with a pantaloon-shaped patch. Persistent fifth aortic arch does not result in a vascular ring and, per se, is not hemodynamically significant unless associated with other cardiac malformations.

  9. First-in-man transcatheter aortic valve implantation of a 20-mm Edwards SAPIEN XT valve: one step forward for the treatment of patients with severe aortic stenosis and small aortic annulus.

    PubMed

    Rodés-Cabau, Josep; DeLarochellière, Robert; Dumont, Eric

    2012-04-01

    We present the case of an 85-year-old woman diagnosed with severe aortic stenosis, porcelain aorta, and a small aortic annulus (17.3 mm), who underwent successful transfemoral transcatheter aortic valve implantation (TAVI) with a 20-mm Edwards SAPIEN XT valve using the NovaFlex+ delivery system. At 1-month follow-up the patient was in NYHA functional class I, and Doppler echocardiography showed a mean residual gradient of 15 mm Hg and trivial paravalvular aortic regurgitation. This case, which shows for the first time the feasibility of TAVI with a 20-mm valve, opens a new avenue for the challenging treatment of patients with aortic stenosis and a small aortic annulus.

  10. Acute aortic dissection provoked by sneeze: a case report.

    PubMed

    Baydin, A; Nural, M S; Güven, H; Deniz, T; Bildik, F; Karaduman, A

    2005-10-01

    The response of the abdominal viscera and the contraction of the intercostal muscles during the respiratory phase of sneezing increases intrathoracic pressure, which may lead to several complications. However, there are no reports in the literature concerning aortic dissection after sneezing. We report a patient in whom the development of dissection was secondary to sneezing, although hypertension was present as a risk factor, and we discuss the relationship between sneezing and aortic dissection. To our knowledge, this is the first report of aortic dissection provoked by sneezing in the literature.

  11. Genetics Home Reference: supravalvular aortic stenosis

    MedlinePlus

    ... Genetics Home Health Conditions supravalvular aortic stenosis supravalvular aortic stenosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Supravalvular aortic stenosis (SVAS) is a heart defect that develops before ...

  12. [Stent Grafting for Aortic Dissection].

    PubMed

    Uchida, Naomichi

    2016-07-01

    The purpose of stent graft for aortic dissection is to terminate antegrade blood flow into the false lumen through primary entry. Early intervention for primary entry makes excellent aortic remodeling and emergent stent grafting for complicated acute type B aortic dissection is supported as a class I. On the other hand stent grafting for chronic aortic dissection is controversial. Early stent grafting is considered with in 6 months after on-set if the diameter of the descending aorta is more than 40 mm. Additional interventions for residual false lumen on the downstream aorta are still required. Stent graft for re-entry, candy-plug technique, and double stenting, other effective re-interventions were reported. Best treatment on the basis of each anatomical and physical characteristics should be selected in each institution. Frozen elephant trunk is alternative procedure for aortic dissection without the need to take account of proximal anatomical limitation and effective for acute type A aortic dissection.

  13. Ascending aortic wall cohesion: comparison of bicuspid and tricuspid valves.

    PubMed

    Benedik, Jaroslav; Pilarczyk, Kevin; Wendt, Daniel; Indruch, Jiri; Flek, Radek; Tsagakis, Konstantinos; Alaeddine, Savvas; Jakob, Heinz

    2012-01-01

    Objectives. Bicuspid aortic valve (AV) represents the most common form of congenital AV malformation, which is frequently associated with pathologies of the ascending aorta. We compared the mechanical properties of the aortic wall between patients with bicuspid and tricuspid AV using a new custom-made device mimicking transversal aortic wall shear stress. Methods. Between 03/2010 and 07/2011, 190 consecutive patients undergoing open aortic valve replacement at our institution were prospectively enrolled, presenting either with a bicuspid (group 1, n = 44) or a tricuspid (group 2, n = 146) AV. Aortic wall specimen were examined with the "dissectometer" resulting in nine specific aortic-wall parameters derived from tensile strength curves (TSC). Results. Patients with a bicuspid AV showed significantly more calcified valves (43.2% versus 15.8%, P < 0.001), and a significantly thinner aortic wall (2.04 ± 0.42 mm versus 2.24 ± 0.41 mm, P = 0.008). Transesophageal echocardiography diameters (annulus, aortic sinuses, and sinotubular junction) were significantly larger in the bicuspid group (P = 0.003, P = 0.02, P = 0.01). We found no difference in the aortic wall cohesion between both groups as revealed by shear stress testing (P = 0.72, P = 0.40, P = 0.41). Conclusion. We observed no differences of TSC in patients presenting with tricuspid or bicuspid AVs. These results may allow us to assume that the morphology of the AV and the pathology of the ascending aorta are independent.

  14. Congenital hypoplasia of the lumbar pedicle with spondylolisthesis: report of 2 cases.

    PubMed

    Hsieh, Chang-Sheng; Lee, Sang-Ho; Lee, Hyung Chang; Oh, Hyeong-Seok; Hwang, Byeong-Wook; Park, Sang-Joon; Chen, Jian-Han

    2017-04-01

    Congenital hypoplasia of the spinal pedicle is a rare condition. Previously reported cases were treated conservatively or with posterior instrumented fusion. However, the absence or hypoplasia of the lumbar pedicle may increase the difficulty of pedicle screw fixation and fusion. Herein, the authors describe 2 cases of rare adult congenital hypoplasia of the right lumbar pedicles associated with spondylolisthesis. The patients underwent anterior lumbar interbody fusion with a stand-alone cage as well as percutaneous pedicle screw fixation. This method was used to avoid the difficulties associated with pedicle screw fixation and to attain solid fusion. Both patients achieved satisfactory outcomes after a minimum of 2 years of follow-up. This method may be an alternative for patients with congenital hypoplasia of the lumbar spinal pedicle.

  15. Le Fort II midfacial distraction combined with orthognathic surgery in the treatment of nasomaxillary hypoplasia.

    PubMed

    Yu, Hongbo; Dai, Jiewen; Wang, Xudong; Zhang, Wenbin; Shen, Steve Guofang

    2014-05-01

    Patients with nasomaxillary hypoplasia have severe facial concavity and compromised skeletal class III malocclusion. Its treatment is still a challenge to surgeons. Our aim was to evaluate the combination of midfacial distraction and orthognathic surgery in the treatment of nasomaxillary hypoplasia. Four patients with nasomaxillary hypoplasia were enrolled in this study. After Le Fort II osteotomy, the rotational distraction of nasomaxillary complex was performed to rehabilitate facial convexity. Then bilateral sagittal split ramus osteotomy with or without Le Fort I osteotomy was used to correct malocclusion. All patients healed uneventfully, and the maxillae moved forward conspicuously. No obvious pain and severe discomfort were complained during distraction. A significant advancement and downward movement of the maxilla were shown by cephalometric analysis. The combination of midfacial distraction and orthognathic surgery provides us an ideal alternative in the treatment of nasomaxillary hypoplasia.

  16. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective fo...

  17. Enlargement of the aortic annulus during aortic valve replacement: a review.

    PubMed

    Bortolotti, Uberto; Celiento, Michele; Milano, Aldo D

    2014-01-01

    The main goal of aortic valve replacement (AVR) is to obtain relief from the fixed left ventricular (LV) obstruction by replacing the aortic valve with a prosthesis, either mechanical or biological, of adequate size. Most currently available prostheses provide satisfactory hemodynamic performance, but small-sized prostheses may be associated with high transvalvular gradients and suboptimal effective orifice area that result in prosthesis-patient mismatch (PPM), and thus are far from ideal for use in young, active patients. The avoidance of PPM is advisable as it has been repeatedly associated with increased mortality, decreased exercise tolerance and an impaired regression of LV hypertrophy after AVR for severe aortic stenosis. Enlargement of the aortic annulus (EAA) has proved to be a valuable method to prevent PPM in the presence of a diminutive aortic root. This review outlines the various techniques described for EAA, presenting technical details, long-term results and major procedure-related complications, and discussing the current role of EAA in patients requiring AVR.

  18. Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?

    PubMed Central

    Samanta, Debopam; Willis, Erin

    2016-01-01

    Introduction: Pontocerebellar hypoplasia (PCH) involves a diverse range of etiologies including a group of single gene disorders. Mutations in the tRNA splicing endonuclease complex (TSEN) 54 gene can be responsible for PCH type 2, 4 and 5. The more common and less severe PCH 2 phenotype is caused by homozygosity for the common missense mutation A307S, while the severe phenotype seen in type 4 and 5 is caused by compound heterozygosity of the A307S mutation along with a nonsense or splice site mutation. Report: We report a 4- month-old girl who presented with epileptic spasms that remained intractable to several antiepileptic medications. Magnetic Resonance Imaging (MRI) brain showed fairly severe hypoplasia with superimposed atrophy of the cerebellum and brainstem with prominent extra-axial fluid spaces. Extensive metabolic testing was negative. Commercial testing for PCH via TSEN54 gene revealed missense mutation of Ala307Ser. A novel sequence variant, designated c.17_40 del, was also found and was predictive of an in-frame deletion of eight amino acids. Follow-up over 2 years revealed intractable epileptic spasms, progressive microcephaly and development of prominent choreoathetosis. Conclusion: This case report describes a rare case of PCH with overlapping features of the less severe PCH2 and the more severe PCH4/5 phenotype. It also adds another new entity in the list of genetic conditions where West syndrome and pontocerebellar hypoplasia can be seen together, emphasizing the need for further investigations of the genotype-phenotype correlation of mutations in order to advance our understanding of the pathophysiologic mechanism in these rare conditions. PMID:27570394

  19. Mechanism of development of aortic transection: a possible new angle.

    PubMed

    Warwick, R; Mediratta, N; Pullan, M; Chalmers, J; Poullis, M

    2013-03-01

    Aortic transection injury is a frequently fatal injury secondary to sudden deceleration. To date magnitude of deceleration is the only factor known to influence the development of an aortic transection injury. We hypothesise that different 3D geometries of the aortic arch in healthy young adult patients as a possible predisposing factor for transection injuries when undergoing sudden deceleration. We extend this to hypothesise that the direction of deceleration may be important as well. In addition we hypothesise that the stage in the cardiac cycle, which determines central aortic blood pressure, when the deceleration occurs as an important factor. We utilise known engineering principles such as Newton's second Law of motion, moment of inertia, law of Laplace, and the theory of superposition to explain our hypothesis. We present limited data to demonstrate the wide variation in aortic arch 3D geometry to explain the possible an individual's variable susceptibility to transection injuries via the principle of moment of inertia. Engineering principles suggest that 3D aortic arch geometry, direction of deceleration and stage in the cardiac cycle, in addition to the magnitude of deceleration are potentially important factors in predisposing certain individuals in a given situation to aortic transaction injuries.

  20. Clinical and echocardiographic determinants in bicuspid aortic dilatation

    PubMed Central

    Peeters, Frederique E.C.M.; Van der Linden, Noreen; Thomassen, Alissa L.L.; Crijns, Harry J.G.M.; Meex, Steven J.R.; Kietselaer, Bas L.J.H.

    2016-01-01

    Abstract Bicuspid aortic valve (BAV) disease is associated with aortic dilatation. Timing of follow-up and surgery is challenging. Hence, there is an unmet clinical need for additional risk stratification. It is unclear whether valve morphology is associated with dilatation rates. Therefore, the objective of this study was to examine the association between clinical and echocardiographic determinants (including valve morphology) and aortic dimension and the progression rate of dilatation. Aortic dimensions were assessed on serial echocardiographic images between 1999 and 2014 in a population of 392 patients with BAVs in a tertiary care center in the Netherlands. Analyses using mixed linear models were performed. Mean age of participants was 48 ± 17 years and 69% were male. BAV morphology was associated with aortic dimensions, as well as age, sex, BSA, and valvular dysfunction. Tubular ascending aorta, sinus of Valsalva, and sinotubular junction showed a dilatation rate of 0.32, 0.18, and 0.06 mm/year, respectively. Dilatation rate was not associated with valve morphology. In the present study, there is no association between BAV morphology and aortic dilatation rates. Therefore, morphology is of limited use in prediction of aortic growth. Discovering fast progressors remains challenging. PMID:28033264

  1. FTIR protein secondary structure analysis of human ascending aortic tissues.

    PubMed

    Bonnier, Franck; Rubin, Sylvain; Debelle, Laurent; Ventéo, Lydie; Pluot, Michel; Baehrel, Bernard; Manfait, Michel; Sockalingum, Ganesh D

    2008-08-01

    The advent of moderate dilatations in ascending aortas is often accompanied by structural modifications of the main components of the aortic tissue, elastin and collagen. In this study, we have undertaken an approach based on FTIR microscopy coupled to a curve-fitting procedure to analyze secondary structure modifications in these proteins in human normal and pathological aortic tissues. We found that the outcome of the aortic pathology is strongly influenced by these proteins, which are abundant in the media of the aortic wall, and that the advent of an aortic dilatation is generally accompanied by a decrease of parallel beta-sheet structures. Elastin, essentially composed of beta-sheet structures, seems to be directly related to these changes and therefore indicative of the elastic alteration of the aortic wall. Conventional microscopy and confocal fluorescence microscopy were used to compare FTIR microscopy results with the organization of the elastic fibers present in the tissues. This in-vitro study on 6 patients (three normal and three pathologic), suggests that such a spectroscopic marker, specific to aneurismal tissue characterization, could be important information for surgeons who face the dilemma of moderate aortic tissue dilatation of the ascending aortas.

  2. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

    PubMed

    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery

    2016-01-01

    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

  3. Anatomical vertebral artery hypoplasia and insufficiency impairs dynamic blood flow regulation.

    PubMed

    Sato, Kohei; Yoneya, Marina; Otsuki, Aki; Sadamoto, Tomoko; Ogoh, Shigehiko

    2015-11-01

    Recent studies have suggested that vertebral artery (VA) hypoplasia is a predisposing factor for posterior cerebral stroke. We examined whether anatomical vertebrobasilar ischemia, i.e., unilateral VA hypoplasia and insufficiency, impairs dynamic blood flow regulation. Twenty-eight female subjects were divided into three groups by defined criteria: (i) unilateral VA hypoplasia (n = 8), (ii) VA insufficiency (n = 6), and (iii) control (n = 14). Hypoplastic VA criterion was VA blood flow of 40 ml min(-1) , whereas VA insufficiency criterion was net (left + right) VA blood flow of 100 ml min(-1) or less. We evaluated left, right, and net VA blood flows by ultrasonography during hypercapnia, normocapnia, and hypocapnia to evaluate VA CO2 reactivity. The unilateral VA hypoplasia group showed lower CO2 reactivity at hypoplastic VA than at non-hypoplastic VA (2.65 ± 0.58 versus 3.00 ± 0.48% per mmHg, P = 0.027) and net VA CO2 reactivity was preserved (Unilateral VA hypoplasia, 2.95 ± 0.48 versus Control, 2.93 ± 0.42% per mmHg, P = 0.992). However, the VA insufficiency group showed a lower net VA CO2 reactivity compared to the control (2.29 ± 0.55 versus 2.93 ± 0.42% per mmHg, P = 0.032) and the unilateral VA hypoplasia (P = 0.046). VA hypoplasia reduced CO2 reactivity, although non-hypoplastic VA may compensate this regulatory limitation. In subjects with VA insufficiency, lowered CO2 reactivity at the both VA could not preserve normal net VA CO2 reactivity. These findings provide a possible physiological mechanism for the increased risk of posterior cerebral stroke in subjects with VA hypoplasia and insufficiency.

  4. Lipid Interventions in Aortic Valvular Disease.

    PubMed

    Choi, Kwang Jin; Tsomidou, Christiana; Lerakis, Stamatios; Madanieh, Raef; Vittorio, Timothy J; Kosmas, Constantine E

    2015-10-01

    Aortic valve stenosis is the most common valvular disease in the elderly population. Presently, there is increasing evidence that aortic stenosis (AS) is an active process of lipid deposition, inflammation, fibrosis and calcium deposition. The pathogenesis of AS shares many similarities to that of atherosclerosis; therefore, it was hypothesized that certain lipid interventions could prevent or slow the progression of aortic valve stenosis. Despite the early enthusiasm that statins may slow the progression of AS, recent large clinical trials did not consistently demonstrate a decrease in the progression of AS. However, some researchers believe that statins may have a benefit early on in the disease process, where inflammation (and not calcification) is the predominant process, in contrast to severe or advanced AS, where calcification (and not inflammation) predominates. Positron emission tomography using 18F-fluorodeoxyglucose and 18F-sodium fluoride can demonstrate the relative contributions of valvular calcification and inflammation in AS, and thus this method might potentially be useful in providing the answer as to whether lipid interventions at the earlier stages of AS would be more effective in slowing the progression of the disease. Currently, there is a strong interest in recombinant apolipoprotein A-1 Milano and in the development of new pharmacological agents, targeting reduction of lipoprotein (a) levels and possibly reduction of the expression of lipoprotein-associated phospholipase A2, as potential means to slow the progression of aortic valvular stenosis.

  5. Atheroembolization and potential air embolization during aortic declamping in open repair of a pararenal aortic aneurysm: A case report

    PubMed Central

    Dregelid, Einar Børre; Lilleng, Peer Kåre

    2016-01-01

    Introduction When ischemic events ascribable to microembolization occur during open repair of proximal abdominal aortic aneurysms, a likely origin of atheroembolism is not always found. Presentation of case A 78-year old man with enlargement of the entire aorta underwent open repair for a pararenal abdominal aortic aneurysm using supraceliac aortic clamping for 20 min. Then the graft was clamped, the supraceliac clamp was removed, and the distal and right renal anastomoses were also completed. The patient was stable throughout the operation with only transient drop in blood pressure on reperfusion. Postoperatively the patient developed ischemia, attributable to microembolization, in legs, small intestine, gall bladder and kidneys. He underwent fasciotomy, small bowel and gall bladder resections. Intestinal absorptive function did not recover adequately and he died after 4 months. Microscopic examination of hundreds of intestinal, juxtaintestinal mesenteric, and gall bladder arteries showed a few ones containing cholesterol emboli. Discussion It is unsure whether a few occluded small arteries out of several hundred could have caused the ischemic injury alone. There had been only moderate backbleeding from aortic branches above the proximal anastomosis while it was sutured. Inadvertently, remaining air in the graft, aorta, and aortic branches may have been whipped into the pulsating blood, resulting in air microbubbles, when the aortic clamp was removed. Conclusion Although both atheromatous particles and air microbubbles are well-known causes of iatrogenic microembolization, the importance of air microembolization in open repair of pararenal aortic aneurysms is not known and need to be studied. PMID:27100956

  6. Do all Critical Aortic Stenosis with Chest Pain Need Aortic Valve Replacement? A Case Report

    PubMed Central

    Sharma, Munish; Mascarenhas, Daniel A.N.

    2016-01-01

    Aortic valve replacement (AVR) remains the cornerstone of treatment for symptomatic critical aortic stenosis (AS). It is a Class I indication that symptomatic patients with critical AS undergo either surgical or transcatheter aortic valve replacement (TAVR). We present a patient with critical AS and new angina that was managed successfully with percutaneous coronary intervention (PCI) of the Right coronary artery. Physicians should consider that not all patients with critical AS and angina necessarily require AVR. Concomitant pathology leading to the symptoms should be carefully ruled out. This leads to a less invasive, cost effective care plan especially in patients with advanced age and comorbidities for which any type of surgical valvular intervention may pose high risk. PMID:27994841

  7. Transcaval Aortic Access for Percutaneous Thoracic Aortic Aneurysm Repair: Initial Human Experience

    PubMed Central

    Uflacker, Andre; Lim, Scott; Ragosta, Michael; Haskal, Ziv J; Lederman, Robert J.; Kern, John; Upchurch, Gilbert; Huber, Timothy; Angle, John F.; Ailawadi, Gorav

    2015-01-01

    Transcaval aortic access has been used for deployment of transcatheter aortic valves in patients in whom conventional arterial approaches are not feasible. The present report describes its use for thoracic endovascular aortic repair (TEVAR) in a 61-year-old man with a descending thoracic aneurysm. Transcaval access was performed in lieu of a surgical iliac conduit in view of small atherosclerotic pelvic arteries. TEVAR was successfully performed, followed by intervascular tract occlusion with the use of a ventricular septal occluder. Computed tomography 2 d later demonstrated no extravasation. At 1 mo, the aneurysm was free of endoleaks, the aortocaval tract had healed, and the patient had returned to baseline functional status. PMID:26408210

  8. Transcatheter aortic valve replacement for aortic bioprosthetic valve failure with cardiogenic shock.

    PubMed

    Fudim, Marat; Markley, Roshanak R; Robbins, Mark A

    2013-11-01

    Acutely failing bioprosthetic valves represent a clinical emergency and are exceedingly challenging given the paucity of therapeutic options. Oftentimes, these patients are not re-operative candidates due to clinical instability. We present 2 cases of acute degenerative aortic bioprosthetic valve failure with cardiogenic shock treated with transcatheter aortic valve replacement (TAVR). These cases were characterized by hemodynamic instability with vasopressor dependence and (multiple) organ failure. These 2 cases demonstrate that TAVR should be considered as a treatment option for unstable patients with bioprosthetic failure.

  9. Aortic arch geometry and exercise-induced hypertension in aortic coarctation.

    PubMed

    De Caro, Enrico; Trocchio, Gianluca; Smeraldi, Attilio; Calevo, Maria Grazia; Pongiglione, Giacomo

    2007-05-01

    Hypertension at rest or during effort is not uncommon in patients with aortic coarctation (CoA), even those with a successful repair or mild degree of obstruction. Anatomic factors and functional abnormalities have been proposed as causes of this finding. Recently, aortic arch geometry was reported in association with hypertension at rest in patients with successful CoA repair. Forty-one patients (age 15.7 +/- 4.6 years) without significant obstruction at rest (mean systolic Doppler gradient at rest < or =25 mm Hg) were selected for the study. All patients underwent a maximal cardiopulmonary exercise test and magnetic resonance imaging of the aorta. Aortic arch shape was defined on global geometry as normal, gothic, and crenel. Percentage of anatomic narrowing (AN) was also calculated. Twenty-four patients (58%) showed exercise-induced hypertension (EIH). Regarding the shape of the aortic arch, normal geometry was present in 17 patients (41%), 9 (21%) had gothic geometry, and 15 (36%) had crenel geometry. There were no differences among the 3 geometries in regard to the incidence of EIH (70.6% in normal, 55.6% in gothic, and 46.7% in crenel) or AN (36.9% in normal, 33.5% in gothic, and 36.6% in crenel). In conclusion, our results fail to show a correlation between a specific aortic arch shape and the incidence of EIH and significant AN in patients with native or residual CoA or repeat CoA. Therefore, at present, the role of aortic arch geometry in identifying patients at risk of EIH is still uncertain.

  10. Quadricuspid aortic valves in Syrian hamsters and their formation according to current knowledge on valvulogenesis.

    PubMed

    López-García, Alejandro; Carmen Fernández, M; Durán, Ana Carmen; Sans-Coma, Valentín; Fernández, Borja

    2015-02-01

    Occurrence of quadricuspid aortic valves has been reported in humans, in nine dogs and in a greater white-toothed shrew. Moreover, two cases of developing aortic valves with four anticipated leaflets have been described in Syrian hamster embryos. Currently, however, no case of quadricuspid aortic valve in adult hamsters has been recorded. The aim here is to present four adults of this rodent species, two of them with unequivocally quadricuspid aortic valves and the other two with quadricuspid-like aortic valves. The four anomalous aortic valves were detected among 4,190 Syrian hamsters examined in our laboratory, representing an incidence of 0.09%. None of the affected hamsters showed apparent signs of disease. The present findings are considered on the light of current empirical knowledge about the morphogenesis of quadricuspid and bicuspid aortic and pulmonary valves. Quadricuspid aortic valves result from the partition of one of the normal mesenchymal cushions which normally give rise to normal (tricuspid) valves, while quadricuspid-like valves might be the product of a combined mechanism of fusion and partition of the cushions at the onset of the valvulogenesis. The presence of aortic valves with four leaflets in ancient mammalian lineages such as insectivors and rodents suggest that quadricuspid aortic valves, although showing almost certainly a low incidence, may be widespread among the different groups of mammals, including domestic animals.

  11. Renal Function and Hematology in Rats with Congenital Renal Hypoplasia.

    PubMed

    Yasuda, Hidenori; Amakasu, Kohei; Tochigi, Yuki; Katayama, Kentaro; Suzuki, Hiroetsu

    2016-02-01

    Renal hypoplasia due to a congenitally reduced number of nephrons progresses to chronic kidney disease and may cause renal anemia, given that the kidneys are a major source of erythropoietin in adults. Hypoplastic kidney (HPK) rats have only about 20% of the normal number of nephrons and develop CKD. This study assessed the renal function and hematologic changes in HPK rats from 70 to 210 d of age. HPK rats demonstrated deterioration of renal excretory function, slightly macrocytic erythropenia at all days examined, age-related increases in splenic hemosiderosis accompanied by a tendency toward increased hemolysis, normal plasma erythropoietin levels associated with increased hepatic and decreased renal erythropoietin production, and maintenance of the response for erythropoietin production to hypoxic conditions, with increased interstitial fibrosis at 140 d of age. These results indicate that increases in splenic hemosiderosis and the membrane fragility of RBC might be associated with erythropenia and that hepatic production of erythropoietin might contribute to maintaining the blood Hgb concentration in HPK rats.

  12. Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

    PubMed

    Toelle, Sandra P; Poretti, Andrea; Weber, Peter; Seute, Tatjana; Bromberg, Jacoline E C; Scheer, Ianina; Boltshauser, Eugen

    2015-12-01

    Unidentified bright objects (UBO) and tumors are well-known cerebellar abnormalities in neurofibromatosis type 1 (NF1). Literature reports on malformative cerebellar anomalies in neurofibromatosis type 1 (NF1), however, are scant. We retrospectively studied the clinical and neuroimaging findings of 5 patients with NF1 (4 females, age 6 to 29 years at last follow-up) and cerebellar anomalies. Cerebellar symptoms on neurological examination were mild or even not evident whereas learning disabilities were more or less pronounced in four patients. Two patients had cerebellar hypoplasia (diffusely enlarged cerebellar interfoliar spaces) and three cerebellar dysmorphias involving mainly one cerebellar hemisphere. In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as optic pathway gliomas, other tumors, and UBO. This kind of cerebellar anomaly in NF1 has most likely a malformative origin, but the exact pathogenesis is unknown. The individual clinical significance is difficult to determine. We suggest that cerebellar anomalies should be systematically evaluated in neuroimaging studies of NF1 patients.

  13. Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia

    PubMed Central

    Katagiri, Satoshi; Nishina, Sachiko; Yokoi, Tadashi; Mikami, Masashi; Nakayama, Yuri; Tanaka, Michiko; Azuma, Noriyuki

    2017-01-01

    We investigated retinal structure and function in eyes with optic nerve hypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed. Spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (FF-ERG), and focal macular ERG (FM-ERG) were performed. SD-OCT analysis of the macular region showed significant ganglion cells complex (GCC) thinning nasally and temporally (P < 0.05), but the thickness from the inner nuclear layer (INL) to the retinal pigment epithelium (RPE) became thinner only nasally (P < 0.05). SD-OCT analysis of the circumpapillary region showed significant thinning in the retinal nerve fiber layer and from the INL to the RPE (P < 0.05). The horizontal SD-OCT images showed variable foveal abnormalities. FF-ERG analysis showed significantly reduced amplitudes (P < 0.05) and preserved implicit time in the photopic negative response. The amplitudes and implicit times of the other FF-ERG components did not differ significantly. FM-ERG analysis showed significantly reduced amplitudes (P < 0.05) but preserved implicit times in all components. The current study showed the change of retinal structure and function in eyes with ONH compared with those with control, representing by decreased retinal ganglion cells (RGCs) and their axons, foveal abnormalities, and preserved peripheral retina except for the RGCs and their axons. PMID:28205530

  14. CT and MRI of aortic coarctation: pre- and postsurgical findings.

    PubMed

    Karaosmanoglu, Ali Devrim; Khawaja, Ranish Deedar Ali; Onur, Mehmet Ruhi; Kalra, Mannudeep K

    2015-03-01

    OBJECTIVE. The purpose of this article is to summarize the roles of CT and MRI in the diagnosis and follow-up of patients with aortic coarctation. CONCLUSION. Aortic coarctation is a common congenital heart disease accounting for approximately 6-8% of congenital heart defects. Despite its deceptively simple anatomic presentation, it is a complex medical problem with several associated anatomic and physiologic abnormalities. CT and MRI may provide very accurate information of the coarctation anatomy and other associated cardiac abnormalities.

  15. A Migrated Aortic Stent Graft Causing Erosive Spondylopathy

    SciTech Connect

    Gestrich, Christopher Probst, Chris; Wilhelm, Kai; Schiller, Wolfgang

    2013-12-15

    We report about a patient presenting with back pain 4 months after an uneventful endovascular implantation of an aortic stent graft. Computed tomography scan revealed a migration of the stent with consecutive endoleakage, kink formation, and movement of the stent toward the spine, which caused destruction of the aortic wall as well as vertebral necrosis. Explantation of the stent and replacement of the native aorta relieved the patient of his symptoms.

  16. Percutaneous transluminal alcohol septal myocardial ablation after aortic valve replacement

    NASA Technical Reports Server (NTRS)

    Sitges, M.; Kapadia, S.; Rubin, D. N.; Thomas, J. D.; Tuzcu, M. E.; Lever, H. M.

    2001-01-01

    When left ventricular outflow tract obstruction develops after aortic valve replacement, few treatment choices have been available until now. We present a patient with prior aortic valve replacement who developed left ventricle outflow tract obstruction that was successfully treated with a percutaneous transcoronary myocardial septal alcohol ablation. This technique is a useful tool for the treatment of obstructive hypertrophic cardiomyopathy, especially in those patients with prior heart surgery. Copyright 2001 Wiley-Liss, Inc.

  17. Mid-Term Outcomes of a Modification of Extended Aortic Arch Anastomosis with Pulmonary Artery Banding in Single Ventricle Neonates with Hypoplastic Transverse Arch

    PubMed Central

    Thang, Bui Quoc; Furugaki, Tatsuya; Osaka, Motoo; Watanabe, Yutaka; Kanemoto, Shinya; Suetsugu, Fuminaga

    2016-01-01

    Purpose: There is less certainty regarding the best strategy for treating neonates with functional single ventricle (SV) and hypoplastic aortic arch. We have applied a modified extended aortic arch anastomosis (EAAA) and main pulmonary artery banding (PAB) as an initial palliation in neonates with transverse arch hypoplasia and assessed the mid-term outcomes. Methods: In total, 10 neonates with functional SV and extensive hypoplasia or interruption of the arch underwent a modified EAAA (extended arch anastomosis with a subclavian flap) concomitant with main PAB through a thoracotomy without cardiopulmonary bypass. Patient age and weight ranged from 4 to 14 days and 2.3 to 3.8 kg, respectively. Results: There were no hospital deaths although there were two late deaths. Gradients across the arch were 0 to 7 mmHg at postoperative day 1 and no arch reoperations were required. Two patients required balloon aortoplasty. Nine underwent bidirectional cavopulmonary shunt and two of them needed concomitant Damus–Kaye–Stansel (DKS) anastomosis. Six have completed Fontan. Conclusion: Our modification of EAAA with main PAB for SV neonates may benefit a certain population with transverse arch hypoplasia as an option to be considered. Patients with the potential for developing outflow obstruction may be best managed with an initial DKS-type palliation. PMID:27725352

  18. Coronary Ostial Stenosis after Aortic Valve Replacement

    PubMed Central

    Ziakas, Antonios G.; Economou, Fotios I.; Charokopos, Nicholas A.; Pitsis, Antonios A.; Parharidou, Despina G.; Papadopoulos, Thomas I.; Parharidis, Georgios E.

    2010-01-01

    Coronary ostial stenosis is a rare but potentially serious sequela after aortic valve replacement. It occurs in the left main or right coronary artery after 1% to 5% of aortic valve replacement procedures. The clinical symptoms are usually severe and may appear from 1 to 6 months postoperatively. Although the typical treatment is coronary artery bypass grafting, patients have been successfully treated by means of percutaneous coronary intervention. Herein, we present the cases of 2 patients in whom coronary ostial stenosis developed after aortic valve replacement. In the 1st case, a 72-year-old man underwent aortic valve replacement and bypass grafting of the saphenous vein to the left anterior descending coronary artery. Six months later, he experienced a non-ST-segment-elevation myocardial infarction. Coronary angiography revealed a critical stenosis of the right coronary artery ostium. In the 2nd case, a 78-year-old woman underwent aortic valve replacement and grafting of the saphenous vein to an occluded right coronary artery. Four months later, she experienced unstable angina. Coronary angiography showed a critical left main coronary artery ostial stenosis and occlusion of the right coronary artery venous graft. In each patient, we performed percutaneous coronary intervention and deployed a drug-eluting stent. Both patients were asymptomatic on 6-to 12-month follow-up. We attribute the coronary ostial stenosis to the selective ostial administration of cardioplegic solution during surgery. We conclude that retrograde administration of cardioplegic solution through the coronary sinus may reduce the incidence of postoperative coronary ostial stenosis, and that stenting may be an efficient treatment option. PMID:20844624

  19. Management of Acute Aortic Syndrome and Chronic Aortic Dissection

    SciTech Connect

    Nordon, Ian M. Hinchliffe, Robert J.; Loftus, Ian M.; Morgan, Robert A.; Thompson, Matt M.

    2011-10-15

    Acute aortic syndrome (AAS) describes several life-threatening aortic pathologies. These include intramural hematoma, penetrating aortic ulcer, and acute aortic dissection (AAD). Advances in both imaging and endovascular treatment have led to an increase in diagnosis and improved management of these often catastrophic pathologies. Patients, who were previously consigned to medical management or high-risk open surgical repair, can now be offered minimally invasive solutions with reduced morbidity and mortality. Information from the International Registry of Acute Aortic Dissection (IRAD) database demonstrates how in selected patients with complicated AAD the 30-day mortality from open surgery is 17% and endovascular stenting is 6%. Despite these improvements in perioperative deaths, the risks of stroke and paraplegia remain with endovascular treatment (combined outcome risk 4%). The pathophysiology of each aspect of AAS is described. The best imaging techniques and the evolving role of endovascular techniques in the definitive management of AAS are discussed incorporating strategies to reduce perioperative morbidity.

  20. Abdominal aortic aneurysms in women

    PubMed Central

    Lo, Ruby C.; Schermerhorn, Marc L.

    2015-01-01

    Abdominal aortic aneurysm (AAA) has long been recognized as a condition predominantly afflicting males, with sex-associated differences described for almost every aspect of the disease from pathophysiology and epidemiology to morbidity and mortality. Women are generally spared from AAA formation by the immunomodulating effects of estrogen but once they develop, the natural history of AAAs in women appears to be more aggressive, with more rapid expansion, a higher tendency to rupture at smaller diameters, and higher mortality following rupture. However, simply repairing AAA at smaller diameters in women is a debatable solution, as even elective endovascular AAA repair (EVAR) is fraught with higher morbidity and mortality in women compared to men. The goal of this review is to summarize what is currently known about the effect of gender on AAA presentation, treatment, and outcomes. Additionally, we aim to review current controversies over screening recommendations and threshold for repair in women. PMID:26747679

  1. Acquired supravalvular aortic stenosis: a late complication of replacement of the ascending aorta.

    PubMed

    Turley, Andrew J; Dark, John; Adams, Philip C

    2008-09-01

    Aortic syndromes are an increasing cause of morbidity and mortality. Ascending aortic dissection is a clinical emergency with most patients requiring open surgery to replace the ascending aorta. Detection through clinical suspicion, improved non-invasive imaging and refined surgical techniques have resulted in an improved survival rate. Acquired supravalvular aortic stenosis is an extremely rare complication of cardiac surgery. We present the case of a patient who, 15 years after undergoing elective replacement of the ascending aorta for aortic dissection, required repeat surgery for symptomatic supravalvular aortic stenosis. This case elegantly highlights the need for a detailed focused assessment in patients where the clinical presentation does not correlate with initial investigations. To our knowledge this is the first reported case of late symptomatic supravalvular aortic stenosis following replacement of the ascending aorta.

  2. D-dimer is elevated in acute aortic dissection.

    PubMed

    Martin, Thomas; Shariq, Sohail

    2010-08-31

    This case illustrates that d-dimer is elevated in patients with acute aortic dissection. A 49-year-old woman presented with central, crushing chest pain exacerbated on inspiration. The chest pain was associated with right-leg numbness and pain, although peripheral pulses and blood pressures were normal. Routine bloods demonstrated an elevated d-dimer with a normal ECG and chest x-ray radiograph. A differential diagnosis of pulmonary embolism and acute aortic dissection was made. CT-angiogram showed type B aortic dissection. This case report highlights the mounting evidence that d-dimer is elevated in practically all incidents of aortic dissection and could be useful as a negative predictive marker.

  3. Unexpected death caused by rupture of a dilated aorta in an adult male with aortic coarctation.

    PubMed

    Leth, Peter Mygind; Knudsen, Peter Thiis

    2015-09-01

    Aortic coarctation (AC) is a congenital aortic narrowing. We describe for the first time the findings obtained by unenhanced post mortem computed tomography (PMCT) in a case where the death was caused by cardiac tamponade from a ruptured aneurysmal dilatation of the ascending aorta and the aortic arch without dissection combined with aortic coarctation. The patient, a 46-year-old man, was found dead at home. PMCT showed haemopericardium and dilatation of the ascending aorta and the aortic arch. This appearance led to the mistaken interpretation that the images represented a dissecting aneurysm. The autopsy showed instead a thin-walled and floppy dilatation of the ascending aorta and aortic arch with a coarctation just proximal to the ligamentum arteriosum. A longitudinal tear was found in the posterior aortic wall just above the valves. Blood in the surrounding soft tissue intersected with a large haematoma (1000ml) in the pericardial sac. Cardiac hypertrophy (556g) was observed in the patient, though no other cardiovascular abnormalities were found. Histological analysis showed cystic medial necrosis of the ascending aortic wall. A ruptured aneurysmal dilatation of the ascending aorta and the aortic arch without aortic dissection associated with AC is an uncommon cause of haemopericardium that has only been described a few times before. The case is discussed in relation to other reported cases and in the context of the present understanding of this condition.

  4. The Perceval S Aortic Valve Implantation in Patients with Porcelain Aorta; is this Ideal Option?

    PubMed Central

    Baikoussis, Nikolaos G; Dedeilias, Panagiotis; Prappa, Efstathia; Argiriou, Michalis

    2017-01-01

    We would like to present in this paper a patient with severe aortic valve stenosis referred to our department for surgical aortic valve replacement. In this patient, it was intraoperatively detected an unexpected heavily calcified porcelain ascending aorta. We present the treatment options in this situation, the difficulties affronted intraoperatively, the significance of the preoperative chest computed tomography scan and the use of the Perceval S aortic valve as ideal bioprosthesis implantation. This is a self-expanding, self-anchoring, and sutureless valve with a wide indication in all patients requiring aortic bioprosthesis. PMID:28074827

  5. The perceval S aortic valve implantation in patients with porcelain aorta; is this ideal option?

    PubMed

    Baikoussis, Nikolaos G; Dedeilias, Panagiotis; Prappa, Efstathia; Argiriou, Michalis

    2017-01-01

    We would like to present in this paper a patient with severe aortic valve stenosis referred to our department for surgical aortic valve replacement. In this patient, it was intraoperatively detected an unexpected heavily calcified porcelain ascending aorta. We present the treatment options in this situation, the difficulties affronted intraoperatively, the significance of the preoperative chest computed tomography scan and the use of the Perceval S aortic valve as ideal bioprosthesis implantation. This is a self-expanding, self-anchoring, and sutureless valve with a wide indication in all patients requiring aortic bioprosthesis.

  6. Aortic Baroreceptors Display Higher Mechanosensitivity than Carotid Baroreceptors

    PubMed Central

    Lau, Eva On-Chai; Lo, Chun-Yin; Yao, Yifei; Mak, Arthur Fuk-Tat; Jiang, Liwen; Huang, Yu; Yao, Xiaoqiang

    2016-01-01

    Arterial baroreceptors are mechanical sensors that detect blood pressure changes. It has long been suggested that the two arterial baroreceptors, aortic and carotid baroreceptors, have different pressure sensitivities. However, there is no consensus as to which of the arterial baroreceptors are more sensitive to changes in blood pressure. In the present study, we employed independent methods to compare the pressure sensitivity of the two arterial baroreceptors. Firstly, pressure-activated action potential firing was measured by whole-cell current clamp with a high-speed pressure clamp system in primary cultured baroreceptor neurons. The results show that aortic depressor neurons possessed a higher percentage of mechano-sensitive neurons. Furthermore, aortic baroreceptor neurons show a lower pressure threshold than that of carotid baroreceptor neurons. Secondly, uniaxial stretching of baroreceptor neurons, that mimics the forces exerted on blood vessels, elicited a larger increase in intracellular Ca2+ rise in aortic baroreceptor neurons than in carotid baroreceptor neurons. Thirdly, the pressure-induced action potential firing in the aortic depressor nerve recorded in vivo was also higher. The present study therefore provides for a basic physiological understanding on the pressure sensitivity of the two baroreceptor neurons and suggests that aortic baroreceptors have a higher pressure sensitivity than carotid baroreceptors. PMID:27630578

  7. Replacement of the quadricuspid aortic valve: strategy to avoid complete heart block.

    PubMed

    Pirundini, Paul A; Balaguer, Jorge M; Lilly, Kevin J; Gorsuch, William Brian; Taft, Margaret Byrne; Cohn, Lawrence H; Rizzo, Robert J

    2006-06-01

    Quadricuspid aortic valves are rarely encountered by the cardiac surgeon during aortic valve replacement. The most common location for the supranumerary cusp is between the noncoronary and the right coronary cusp, located over the membranous septum, which can potentially increase the risk of complete heart block after valve replacement. We present three quadricuspid aortic valve replacements, one of which was complicated by complete heart block postoperatively. We suggest a strategy to possibly avoid this complication.

  8. Paraplegia after aortic and superior mesenteric artery stenting for occlusive disease.

    PubMed

    Hans, Sachinder S; Ngo, William; McAllister, Michael

    2014-02-01

    Paraplegia after endovascular therapy for aortic and visceral artery occlusive disease is an extremely uncommon occurrence. Two cases of paraplegia after placement of an aortic covered stent for infrarenal aortic stenosis and a superior mesenteric artery stent for chronic visceral ischemia are presented. In both patients, embolization of the arterial supply to the spinal cord was the presumed cause. One patient had a slight recovery after intense physical therapy and rehabilitation. The second patient did not have any recovery from her paraplegia.

  9. Aortic valve replacement within an unexpected porcelain aorta: the sutureless valve option.

    PubMed

    Gatti, Giuseppe; Benussi, Bernardo; Camerini, Fulvio; Pappalardo, Aniello

    2014-03-01

    Four patients referred for surgical treatment of aortic stenosis presented an unexpected extremely calcified (porcelain) ascending aorta at the intraoperative epiaortic ultrasonography scanning. In each patient, replacement of the aortic valve was successfully performed using a sutureless implantable bioprosthesis during a short period of hypothermic circulatory arrest. In the era of transcatheter aortic valve implantation procedures, the sutureless valve may be a valuable option for surgical units that do not dispose of transcatheter technology or a hybrid operative theatre.

  10. Optimal Design of Aortic Leaflet Prosthesis

    NASA Technical Reports Server (NTRS)

    Ghista, Dhanjoo N.; Reul, Helmut; Ray, Gautam; Chandran, K. B.

    1978-01-01

    The design criteria for an optimum prosthetic-aortic leaflet valve are a smooth washout in the valve cusps, minimal leaflet stress, minimal transmembrane pressure for the valve to open, an adequate lifetime (for a given blood-compatible leaflet material's fatigue data). A rigorous design analysis is presented to obtain the prosthetic tri-leaflet aortic valve leaflet's optimum design parameters. Four alternative optimum leaflet geometries are obtained to satisfy the criteria of a smooth washout and minimal leaflet stress. The leaflet thicknesses of these four optimum designs are determined by satisfying the two remaining design criteria for minimal transmembrane opening pressure and adequate fatigue lifetime, which are formulated in terms of the elastic and fatigue properties of the selected leaflet material - Avcothane-51 (of the Avco-Everett Co. of Massachusetts). Prosthetic valves are fabricated on the basis of the optimum analysis and the resulting detailed engineering drawings of the designs are also presented in the paper.

  11. [Aortic valve replacement for the small aortic annulus].

    PubMed

    Oshima, H; Usui, A; Akita, T; Ueda, Y

    2006-04-01

    Aortic valve surgery for the small aortic annulus is still challenging for surgeons. Recently, the new types of high performance prosthesis have been developed and the chance of an aortic root enlargement (ARE) is decreasing. In this study, we propose the ideal strategy of the aortic surgery for the small aortic annulus. We analyzed the clinical records of 158 patients who underwent aortic valve replacement from August 1999 to October 2005 in our institution. The small aortic annulus was observed in 38 patients (24%). Fourteen patients of this group underwent ARE. Patient-prosthesis mismatch (PPM) was less frequently observed in patients with ARE compared to those without ARE. The additional time required for ARE was not considerable, and neither ischemic time nor cardiopulmonary bypass time was significantly prolonged by ARE. In conclusion, we have to select a prosthesis with sufficient orifice area to avoid PPM, otherwise we should choose an option of ARE. For this consideration, we definitely need the chart that demonstrates the relationship between the nominal size of various types of prostheses and the size of a patient's annulus that those prostheses actually fit.

  12. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

    PubMed

    Bree, Alanna F; Grange, Dorothy K; Hicks, M John; Goltz, Robert W

    2016-03-01

    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.

  13. 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

  14. [Single coronary artery and right aortic arch].

    PubMed

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-01-01

    Coronary anomalies are mostly asymptomatic and diagnosed incidentally during coronary angiography or echocardiography. However, they must be taken into account in the differential diagnosis of angina, dyspnea, syncope, acute myocardial infarction or sudden death in young patients. The case is presented of two rare anomalies, single coronary artery originating from right sinus of Valsalva and right aortic arch, in a 65 year-old patient with atherosclerotic coronary artery disease treated percutaneously.

  15. Helical (spiral) CT in the evaluation of emergent thoracic aortic syndromes. Traumatic aortic rupture, aortic aneurysm, aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer.

    PubMed

    Ledbetter, S; Stuk, J L; Kaufman, J A

    1999-05-01

    For the near future, CT will play the critical and dominant role in the evaluation of patients presenting with emergent aortic syndromes. Its convenience, accuracy, and utility in the rapid evaluation of not just the aorta, but the entire thorax, make it ideally suited for use in emergency settings. Further benefits are likely to be realized in speed and resolution with multislice CT, although it is as yet not widely available.

  16. Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism.

    PubMed

    Wax, J R; Prabhakar, G; Giraldez, R A; Hutchins, G M; Stetten, G; Blakemore, K J

    1994-05-01

    The association of urinary anomalies with Turner's syndrome is well established. This report describes an unusual antenatal presentation of this cytogenetic disorder and the first reported case of unilateral renal hypoplasia and contralateral renal agenesis in a 45,X/46,XY fetus. The fetus presented with severe third trimester oligohydramnios and symmetrical intrauterine growth retardation at 29 weeks and 2 days' gestation. Chorionic villus cultures revealed a 45,X karyotype. A phenotypically male infant weighing 1833 g was delivered at 35 weeks and 2 days. Chromosomal analysis of the newborn showed a 45,X/46,XY mosaicism, and surgical exploration revealed absence of the left kidney and a hypoplastic right kidney. The infant died at 11 months of age from renal failure and peritonitis. This case demonstrates that monosomy X may be encountered in fetuses with marked growth delay and oligohydramnios. The etiology of the oligohydramnios in this case was a fetal renal malformation not previously described in Turner's syndrome. Antenatal cytogenetic findings should be confirmed postnatally, with a search for mosaicism, when monosomy X is encountered.

  17. Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene.

    PubMed

    Milewicz, Dianna; Hostetler, Ellen; Wallace, Stephanie; Mellor-Crummey, Lauren; Gong, Limin; Pannu, Hariyadarshi; Guo, Dong-chuan; Regalado, Ellen

    2016-04-01

    Almost one-quarter of patients presenting with thoracic aortic aneurysms (TAAs) or acute aortic dissections (TAADs) have an underlying mutation in a specific gene. A subset of these patients will have systemic syndromic features, for example, skeletal features in patients with Marfan Syndrome. It is important to note that the majority of patients with thoracic aortic disease will not have these syndromic features but many will have a family history of the disease. The genes predisposing to these thoracic aortic diseases are inherited in an autosomal dominant manner, and thirteen genes have been identified to date. As the clinical phenotype associated with each specific gene is defined, the data indicate that the underlying gene dictates associated syndromic features. More importantly, the underlying gene also dictates the aortic disease presentation, the risk for dissection at a given range of aortic diameters, the risk for additional vascular diseases and what specific vascular diseases occur associated with the gene. These results lead to the recommendation that the medical and surgical management of these patients be dictated by the underlying gene, and for patients with mutations in ACTA2, the specific mutation in the gene.

  18. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

    PubMed Central

    Lax, Nichola Z.; Alston, Charlotte L.; Schon, Katherine; Park, Soo-Mi; Krishnakumar, Deepa; He, Langping; Falkous, Gavin; Ogilvy-Stuart, Amanda; Lees, Christoph; King, Rosalind H.; Hargreaves, Iain P.; Brown, Garry K.; McFarland, Robert; Dean, Andrew F.; Taylor, Robert W.

    2015-01-01

    Abstract Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). We describe 2 sisters with novel compound heterozygous RARS2 mutations who presented perinatally with neurologic features typical of PCH6 but with additional features including cardiomyopathy, hydrops, and pulmonary hypoplasia and who died at 1 day and 14 days of age. Magnetic resonance imaging findings included marked cerebellar hypoplasia, gyral immaturity, punctate lesions in cerebral white matter, and unfused deep cerebral grey matter. Enzyme histochemistry of postmortem tissues revealed a near-global cytochrome c oxidase-deficiency; assessment of respiratory chain enzyme activities confirmed severe deficiencies involving complexes I, III, and IV. Molecular genetic studies revealed 2 RARS2 gene mutations: a c.1A>G, p.? variant predicted to abolish the initiator methionine, and a deep intronic c.613-3927C>T variant causing skipping of exons 6–8 in the mature RARS2 transcript. Neuropathologic investigation included low brain weights, small brainstem and cerebellum, deep cerebral white matter pathology, pontine nucleus neuron loss (in 1 sibling), and peripheral nerve pathology. Mitochondrial respiratory chain immunohistochemistry in brain tissues confirmed an absence of complexes I and IV immunoreactivity with sparing of mitochondrial numbers. These cases expand the clinical spectrum of RARS2 mutations, including antenatal features and widespread mitochondrial respiratory chain deficiencies in postmortem brain tissues. PMID:26083569

  19. Prosthesis-preserving aortic root repair after aortic valve replacement.

    PubMed

    Hamamoto, Masaki; Kobayashi, Taira; Kodama, Hiroshi

    2015-07-01

    We describe a new technique of prosthesis-preserving aortic root replacement for patients who have previously undergone aortic valve replacement. With preservation of the mechanical prosthesis, we implant a Gelweave Valsalva graft using double suture lines. The first suture line is made between the sewing cuff of the mechanical valve and the graft, with mattress sutures of 2/0 braided polyester with pledgets. After the first sutures are tied, the second suture line is created between the graft collar and the aortic root remnant with continuous 4/0 polypropylene sutures.

  20. Intestinal cholesterol embolism resulting from intra-aortic balloon pumping: a case report

    PubMed Central

    2014-01-01

    Introduction Intra-aortic balloon pumping is used in elective percutaneous coronary intervention for increasing coronary blood flow. However, intra-aortic balloon pumping may decrease visceral blood flow and cause mesenteric ischemia by visceral artery obstruction. Case presentation We report the case of a 79-year-old Asian man in whom elective percutaneous coronary intervention was performed with intra-aortic balloon pumping. He died from mesenteric ischemia 25 hours after the procedure. Microscopic findings showed that intra-aortic balloon pumping had detached the aortic plaque, breaking it into systemic emboli, leading to subsequent intestinal ischemia and necrosis. Conclusions We conclude that intra-aortic balloon pumping can cause an intestinal cholesterol embolism. PMID:24951057

  1. The excluder aortic endograft.

    PubMed

    Alterman, Daniel M; Stevens, Scott L

    2008-06-01

    Since its introduction, more than 59000 patients have been treated with Gore Excluder endoprosthesis (GORE) for abdominal aortic aneurysm (AAA) in the past 11 years. It has become clearer that differences in device delivery and design provide certain advantages that may favor one anatomical milieu over another. Behavior of the aneurysm sac also seems to be graft dependent as more long-term data become available. The currently available low-permeability GORE seems to have addressed the problem of endotension noted with previous designs. Cumulative data are reviewed, and the data demonstrate very low perioperative morbidity and mortality and excellent protection from aneurysm-related complications with the GORE device. Superior ease of use, excellent trackability, and rare failures requiring acute open conversion characterize the GORE device. By addressing clinical demands of aortic endografting, Gore has eclipsed other endografts in the industry to now dominate the US market. The aim of this review is to describe the history, experience, advantages, and future goals with the GORE for the treatment of AAA.

  2. MAT2A mutations predispose individuals to thoracic aortic aneurysms.

    PubMed

    Guo, Dong-chuan; Gong, Limin; Regalado, Ellen S; Santos-Cortez, Regie L; Zhao, Ren; Cai, Bo; Veeraraghavan, Sudha; Prakash, Siddharth K; Johnson, Ralph J; Muilenburg, Ann; Willing, Marcia; Jondeau, Guillaume; Boileau, Catherine; Pannu, Hariyadarshi; Moran, Rocio; Debacker, Julie; Bamshad, Michael J; Shendure, Jay; Nickerson, Deborah A; Leal, Suzanne M; Raman, C S; Swindell, Eric C; Milewicz, Dianna M

    2015-01-08

    Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant genetic heterogeneity is established for this familial condition. Whole-genome linkage analysis and exome sequencing of distant relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneurysms variably associated with the bicuspid aortic valve was used for identification of additional genes predisposing individuals to this condition. A rare variant, c.1031A>C (p.Glu344Ala), was identified in MAT2A, which encodes methionine adenosyltransferase II alpha (MAT IIα). This variant segregated with disease in the family, and Sanger sequencing of DNA from affected probands from unrelated families with thoracic aortic disease identified another MAT2A rare variant, c.1067G>A (p.Arg356His). Evidence that these variants predispose individuals to thoracic aortic aneurysms and dissections includes the following: there is a paucity of rare variants in MAT2A in the population; amino acids Glu344 and Arg356 are conserved from humans to zebrafish; and substitutions of these amino acids in MAT Iα are found in individuals with hypermethioninemia. Structural analysis suggested that p.Glu344Ala and p.Arg356His disrupt MAT IIα enzyme function. Knockdown of mat2aa in zebrafish via morpholino oligomers disrupted cardiovascular development. Co-transfected wild-type human MAT2A mRNA rescued defects of zebrafish cardiovascular development at significantly higher levels than mRNA edited to express either the Glu344 or Arg356 mutants, providing further evidence that the p.Glu344Ala and p.Arg356His substitutions impair MAT IIα function. The data presented here support the conclusion that rare genetic variants in MAT2A predispose individuals to thoracic aortic disease.

  3. MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

    PubMed Central

    Guo, Dong-chuan; Gong, Limin; Regalado, Ellen S.; Santos-Cortez, Regie L.; Zhao, Ren; Cai, Bo; Veeraraghavan, Sudha; Prakash, Siddharth K.; Johnson, Ralph J.; Muilenburg, Ann; Willing, Marcia; Jondeau, Guillaume; Boileau, Catherine; Pannu, Hariyadarshi; Moran, Rocio; Debacker, Julie; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Leal, Suzanne M.; Raman, C.S.; Swindell, Eric C.; Milewicz, Dianna M.

    2015-01-01

    Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant genetic heterogeneity is established for this familial condition. Whole-genome linkage analysis and exome sequencing of distant relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneurysms variably associated with the bicuspid aortic valve was used for identification of additional genes predisposing individuals to this condition. A rare variant, c.1031A>C (p.Glu344Ala), was identified in MAT2A, which encodes methionine adenosyltransferase II alpha (MAT IIα). This variant segregated with disease in the family, and Sanger sequencing of DNA from affected probands from unrelated families with thoracic aortic disease identified another MAT2A rare variant, c.1067G>A (p.Arg356His). Evidence that these variants predispose individuals to thoracic aortic aneurysms and dissections includes the following: there is a paucity of rare variants in MAT2A in the population; amino acids Glu344 and Arg356 are conserved from humans to zebrafish; and substitutions of these amino acids in MAT Iα are found in individuals with hypermethioninemia. Structural analysis suggested that p.Glu344Ala and p.Arg356His disrupt MAT IIα enzyme function. Knockdown of mat2aa in zebrafish via morpholino oligomers disrupted cardiovascular development. Co-transfected wild-type human MAT2A mRNA rescued defects of zebrafish cardiovascular development at significantly higher levels than mRNA edited to express either the Glu344 or Arg356 mutants, providing further evidence that the p.Glu344Ala and p.Arg356His substitutions impair MAT IIα function. The data presented here support the conclusion that rare genetic variants in MAT2A predispose individuals to thoracic aortic disease. PMID:25557781

  4. Prevalence of coronary atherosclerosis in patients with aortic valve replacement

    PubMed Central

    Ottervanger, J.P.; Thomas, K.; Sie, T.H.; Haalebos, M.M.P.; Zijlstra, F.

    2002-01-01

    Background Because of a high prevalence of coronary artery disease in patients with aortic valve disease, coronary angiography is recommended before aortic valve replacement. However, during the last three decades, a decline in mortality due to coronary heart disease has been observed in the general population in both Western Europe and the United States. It is unknown whether preoperative angiography is still mandatory in all patients. Aim To assess the prevalence of angiographically defined coronary artery disease in patients with aortic valve replacement and trends during a ten-year period. Methods We performed a retrospective cross-sectional study of patients undergoing aortic valve replacement between 1988 and 1998 in our institution. Patients with a history of coronary artery disease and patients younger than 25 years were excluded. Coronary atherosclerosis was defined as one or more coronary artery luminal stenosis of 50% or more on preoperative coronary angiography. Results During the study period 1339 patients had aortic valve replacement in our institution, data on 1322 (98%) were available for analysis. Previous coronary artery disease was documented in 124 patients (10%). After exclusion of 17 patients (no angiography), data on a total of 1181 patients were analysed. Coronary atherosclerosis was present in 472 patients (40%) on preoperative coronary angiography. Several well-known risk factors of ischaemic heart disease were associated with coronary atherosclerosis. The prevalence of angiographically defined coronary atherosclerosis varied between 30% and 50% per year. There was, however, no significant trend during the study period. Multivariate analyses, to adjust for potential differences in risk factors during the observation period, did not change this conclusion. Conclusions The prevalence of angiographically defined coronary artery disease in patients scheduled for aortic valve replacement is still high. From 1988 to 1998, no significant change

  5. Minimally invasive aortic valve surgery

    PubMed Central

    Castrovinci, Sebastiano; Emmanuel, Sam; Moscarelli, Marco; Murana, Giacomo; Caccamo, Giuseppa; Bertolino, Emanuela Clara; Nasso, Giuseppe; Speziale, Giuseppe; Fattouch, Khalil

    2016-01-01

    Aortic valve disease is a prevalent disorder that affects approximately 2% of the general adult population. Surgical aortic valve replacement is the gold standard treatment for symptomatic patients. This treatment has demonstrably proven to be both safe and effective. Over the last few decades, in an attempt to reduce surgical trauma, different minimally invasive approaches for aortic valve replacement have been developed and are now being increasingly utilized. A narrative review of the literature was carried out to describe the surgical techniques for minimally invasive aortic valve surgery and report the results from different experienced centers. Minimally invasive aortic valve replacement is associated with low perioperative morbidity, mortality and a low conversion rate to full sternotomy. Long-term survival appears to be at least comparable to that reported for conventional full sternotomy. Minimally invasive aortic valve surgery, either with a partial upper sternotomy or a right anterior minithoracotomy provides early- and long-term benefits. Given these benefits, it may be considered the standard of care for isolated aortic valve disease. PMID:27582764

  6. Update in the management of type B aortic dissection.

    PubMed

    Nauta, Foeke Jh; Trimarchi, Santi; Kamman, Arnoud V; Moll, Frans L; van Herwaarden, Joost A; Patel, Himanshu J; Figueroa, C Alberto; Eagle, Kim A; Froehlich, James B

    2016-06-01

    Stanford type B aortic dissection (TBAD) is a life-threatening aortic disease. The initial management goal is to prevent aortic rupture, propagation of the dissection, and symptoms by reducing the heart rate and blood pressure. Uncomplicated TBAD patients require prompt medical management to prevent aortic dilatation or rupture during subsequent follow-up. Complicated TBAD patients require immediate invasive management to prevent death or injury caused by rupture or malperfusion. Recent developments in diagnosis and management have reduced mortality related to TBAD considerably. In particular, the introduction of thoracic stent-grafts has shifted the management from surgical to endovascular repair, contributing to a fourfold increase in early survival in complicated TBAD. Furthermore, endovascular repair is now considered in some uncomplicated TBAD patients in addition to optimal medical therapy. For more challenging aortic dissection patients with involvement of the aortic arch, hybrid approaches, combining open and endovascular repair, have had promising results. Regardless of the chosen management strategy, strict antihypertensive control should be administered to all TBAD patients in addition to close imaging surveillance. Future developments in stent-graft design, medical therapy, surgical and hybrid techniques, imaging, and genetic screening may improve the outcomes of TBAD patients even further. We present a comprehensive review of the recommended management strategy based on current evidence in the literature.

  7. Aortic embolization of an Edwards SAPIEN prosthesis due to sigmoid left ventricular hypertrophy: Case report.

    PubMed

    Yuksel, Isa Öner; Koklu, Erkan; Arslan, Sakir; Cagirci, Goksel; Kucukseymen, Selcuk

    2016-06-01

    Transcatheter aortic valve implantation (TAVI) is considered an alternative therapy in high-risk patients with severe aortic stenosis. Although a minimally invasive procedure, it is not free from complications, one of which is valve embolization at the time of TAVI. We present a case of embolization of a balloon-expandable aortic valve due to sigmoid left ventricular hypertrophy and managed with a second valve without surgery. The embolized valve was repositioned in the aortic arch between the left common carotid artery and the brachiocephalic trunk.

  8. Intermittent stuck valve after aortic valve replacement with a mechanical valve

    PubMed Central

    Luo, Wenzong; Wang, Xinxin; Li, Jing; Mu, Yun; Ni, Yiming

    2017-01-01

    Abstract Background: Intermittent stuck valve after mechanical valve replacement surgery is a very rare and severe complication. Case summary: We present 1 case of a 53-year-old woman after aortic valve replacement for severe aortic valve stenosis combined with hypertrophy septum. She was diagnosed with intermittent stuck valve only 1 day after surgery by clinical symptoms, intraoperative transoesophageal echocardiogram, and intraoperative findings. Conclusions: Although indications for concomitant myectomy during aortic valve replacement are not clear, we recommend myectomy to prevent stuck valve after St Jude Medical Regent prosthesis replacement for severe aortic valve stenosis combined with hypertrophy septum. PMID:28248877

  9. Management of severe asymmetric pectus excavatum complicating aortic repair in a patient with Marfan's syndrome.

    PubMed

    Yeung, Jonathan C; Marcuzzi, Danny; Peterson, Mark D; Ko, Michael A

    2016-05-01

    We describe the case of a 28-year old man with Marfan's syndrome and severe pectus excavatum who required an aortic root replacement for an ascending aortic aneurysm. There was a near-vertical angulation of the sternum that presented challenges with opening and exposure of the heart during aortic surgery. Furthermore, removal of the sternal retractor after aortic repair resulted in sudden loss of cardiac output. A Ravitch procedure was then performed to successfully close the chest without further cardiovascular compromise. We propose that patients with a severe pectus excavatum and mediastinal displacement seen on preoperative CT scanning should be considered for simultaneous, elective repair.

  10. Glucose Suppresses Biological Ferroelectricity in Aortic Elastin

    NASA Astrophysics Data System (ADS)

    Liu, Yuanming; Wang, Yunjie; Chow, Ming-Jay; Chen, Nataly Q.; Ma, Feiyue; Zhang, Yanhang; Li, Jiangyu

    2013-04-01

    Elastin is an intriguing extracellular matrix protein present in all connective tissues of vertebrates, rendering essential elasticity to connective tissues subjected to repeated physiological stresses. Using piezoresponse force microscopy, we show that the polarity of aortic elastin is switchable by an electrical field, which may be associated with the recently discovered biological ferroelectricity in the aorta. More interestingly, it is discovered that the switching in aortic elastin is largely suppressed by glucose treatment, which appears to freeze the internal asymmetric polar structures of elastin, making it much harder to switch, or suppressing the switching completely. Such loss of ferroelectricity could have important physiological and pathological implications from aging to arteriosclerosis that are closely related to glycation of elastin.

  11. Geometry of aortic heart valves. [prosthetic design

    NASA Technical Reports Server (NTRS)

    Karara, H. M.

    1975-01-01

    Photogrammetric measurements of the surface topography of the aortic valves obtained from silicon rubber molds of freshly excised human aortic valves are presented. The data are part of an investigation into the design of a new prosthetic valve which will be a central-flow device, like the real valve and unlike previous central-occluding prostheses. Since the maximum stress on the heart valve is induced when the valve is closed and subject to diastolic back-pressure, it was decided to determine the valve geometry during diastole. That is, the molds were formed by pouring the rubber down the excised aortas, causing the valves to close. The molds were made under different pressures (20-120 torr); photogrammetry served as a vehicle for the assessment of the mold topography through the following outputs: digital models, surface profiles, and contour maps.

  12. Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins.

    PubMed

    Cunha, E; Rozzi, F Ramirez; Bermúdez de Castro, J M; Martinón-Torres, M; Wasterlain, S N; Sarmiento, S

    2004-11-01

    This study presents an analysis of linear enamel hypoplasias (LEH) and plane-form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7-30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning.

  13. Spondylolysis and isthmic spondylolisthesis: impact of vertebral hypoplasia on the use of the Meyerding classification

    PubMed Central

    Niggemann, P; Kuchta, J; Grosskurth, D; Beyer, H K; Hoeffer, J; Delank, K S

    2012-01-01

    Background Spondylolysis and isthmic spondylolisthesis are common multifactorial disorders. The extent of slipping of the spondylolytic vertebra is considered a major predicator for prognosis and further follow-up. Vertebral hypoplasia is a common finding associated with spondylolysis. The purpose of this study is to evaluate the incidence of hypoplastic vertebral bodies in patients with spondylolysis and in the general population and to analyse the impact of the findings on the measurement and grading of spondylolisthesis. Methods 140 patients with 141 levels of spondylolysis identified by MRI were included in this study. The slippage of the spondylolytic vertebral body and the size in the midline sagittal image were measured and correlated. In addition, a randomised control group was evaluated to test the hypothesis that shortened, hypoplastic vertebral bodies can also be found in the general population. Results Shortened, hypoplastic vertebrae were found in 50 patients with spondylolysis and none was found in the control group. These shortened vertebrae mimicked spondylolisthesis and in 19 patients the slippage equalled the shortening, thus mimicking spondylolisthesis, although only spondylolysis was present. Conclusion Sagittal shortening of the spondylolytic vertebra is common and may mimic spondylolisthesis. In order to define and measure spondylolisthesis the shortening of the spondylolytic vertebra has to be taken into account. PMID:21750127

  14. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

    PubMed Central

    Marsh, Ashley P.L.; Lukic, Vesna; Pope, Kate; Bromhead, Catherine; Tankard, Rick; Ryan, Monique M.; Yiu, Eppie M.; Sim, Joe C.H.; Delatycki, Martin B.; Amor, David J.; McGillivray, George; Sherr, Elliott H.; Bahlo, Melanie; Leventer, Richard J.

    2015-01-01

    Objective: To determine the molecular basis of a severe neurologic disorder in a large consanguineous family with complete agenesis of the corpus callosum (ACC), pontocerebellar hypoplasia (PCH), and peripheral axonal neuropathy. Methods: Assessment included clinical evaluation, neuroimaging, and nerve conduction studies (NCSs). Linkage analysis used genotypes from 7 family members, and the exome of 3 affected siblings was sequenced. Molecular analyses used Sanger sequencing to perform segregation studies and cohort analysis and Western blot of patient-derived cells. Results: Affected family members presented with postnatal microcephaly and profound developmental delay, with early death in 3. Neuroimaging, including a fetal MRI at 30 weeks, showed complete ACC and PCH. Clinical evaluation showed areflexia, and NCSs revealed a severe axonal neuropathy in the 2 individuals available for electrophysiologic study. A novel homozygous stopgain mutation in adenosine monophosphate deaminase 2 (AMPD2) was identified within the linkage region on chromosome 1. Molecular analyses confirmed that the mutation segregated with disease and resulted in the loss of AMPD2. Subsequent screening of a cohort of 42 unrelated individuals with related imaging phenotypes did not reveal additional AMPD2 mutations. Conclusions: We describe a family with a novel stopgain mutation in AMPD2. We expand the phenotype recently described as PCH type 9 to include progressive postnatal microcephaly, complete ACC, and peripheral axonal neuropathy. Screening of additional individuals with related imaging phenotypes failed to identify mutations in AMPD2, suggesting that AMPD2 mutations are not a common cause of combined callosal and pontocerebellar defects. PMID:27066553

  15. Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia

    PubMed Central

    Karahan, Eyyup; Tulin Berk, Ayse

    2016-01-01

    Aim: To describe the associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia (ONH) and to evaluate the relationship between ocular signs and neurologic findings. Method: A retrospective chart review of 53 patients with the diagnosis of ONH seen between December 1998 and September 2012 was performed. All neurodevelopmental anomalies, neuroradiologic findings, endocrinologic and systemic findings were recorded. Poor vision was defined as the visual acuity poorer than logMAR 1.0 or inadequate central steady maintained fixation. Results: Thirty (56.6%) of the 53 children with ONH were boys. Mean age at presentation was 56.2±46.8 months (range; 3 months to 18 years). Poor vision defined for the purpose of this study was found in 47.2% of 53 patients. Thirty-three (62.3%) children had nystagmus. Thirty-four (64.2%) children had strabismus. Thirteen (38.2%) of those with strabismus had esotropia, 20 (58.8%) had exotropia. The total number of the children with neurodevelopmental deficit was 22 (41.5%) in our study. Conclusion: The vision of young children with ONH should be monitored at least annually, and any refractive errors should be treated. Neuroimaging of the brain and endocrinologic evaluation is necessary in all cases with ONH. PMID:27014380

  16. Missing defects? A comparison of microscopic and macroscopic approaches to identifying linear enamel hypoplasia.

    PubMed

    Hassett, Brenna R

    2014-03-01

    Linear enamel hypoplasia (LEH), the presence of linear defects of dental enamel formed during periods of growth disruption, is frequently analyzed in physical anthropology as evidence for childhood health in the past. However, a wide variety of methods for identifying and interpreting these defects in archaeological remains exists, preventing easy cross-comparison of results from disparate studies. This article compares a standard approach to identifying LEH using the naked eye to the evidence of growth disruption observed microscopically from the enamel surface. This comparison demonstrates that what is interpreted as evidence of growth disruption microscopically is not uniformly identified with the naked eye, and provides a reference for the level of consistency between the number and timing of defects identified using microscopic versus macroscopic approaches. This is done for different tooth types using a large sample of unworn permanent teeth drawn from several post-medieval London burial assemblages. The resulting schematic diagrams showing where macroscopic methods achieve more or less similar results to microscopic methods are presented here and clearly demonstrate that "naked-eye" methods of identifying growth disruptions do not identify LEH as often as microscopic methods in areas where perikymata are more densely packed.

  17. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

    PubMed

    Horn, Julia; Schlesier, Michael; Warnatz, Klaus; Prasse, Antje; Superti-Furga, Andrea; Peter, Hans-Hartmut; Salzer, Ulrich

    2010-09-01

    Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis.

  18. Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

    PubMed Central

    Guo, Dong-chuan; Regalado, Ellen; Casteel, Darren E.; Santos-Cortez, Regie L.; Gong, Limin; Kim, Jeong Joo; Dyack, Sarah; Horne, S. Gabrielle; Chang, Guijuan; Jondeau, Guillaume; Boileau, Catherine; Coselli, Joseph S.; Li, Zhenyu; Leal, Suzanne M.; Shendure, Jay; Rieder, Mark J.; Bamshad, Michael J.; Nickerson, Deborah A.; Kim, Choel; Milewicz, Dianna M.

    2013-01-01

    Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial thoracic aortic disease identified the same rare variant, PRKG1 c.530G>A (p.Arg177Gln), in four families. This mutation segregated with aortic disease in these families with a combined two-point LOD score of 7.88. The majority of affected individuals presented with acute aortic dissections (63%) at relatively young ages (mean 31 years, range 17–51 years). PRKG1 encodes type I cGMP-dependent protein kinase (PKG-1), which is activated upon binding of cGMP and controls SMC relaxation. Although the p.Arg177Gln alteration disrupts binding to the high-affinity cGMP binding site within the regulatory domain, the altered PKG-1 is constitutively active even in the absence of cGMP. The increased PKG-1 activity leads to decreased phosphorylation of the myosin regulatory light chain in fibroblasts and is predicted to cause decreased contraction of vascular SMCs. Thus, identification of a gain-of-function mutation in PRKG1 as a cause of thoracic aortic disease provides further evidence that proper SMC contractile function is critical for maintaining the integrity of the thoracic aorta throughout a lifetime. PMID:23910461

  19. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.

    PubMed

    Guo, Dong-chuan; Regalado, Ellen; Casteel, Darren E; Santos-Cortez, Regie L; Gong, Limin; Kim, Jeong Joo; Dyack, Sarah; Horne, S Gabrielle; Chang, Guijuan; Jondeau, Guillaume; Boileau, Catherine; Coselli, Joseph S; Li, Zhenyu; Leal, Suzanne M; Shendure, Jay; Rieder, Mark J; Bamshad, Michael J; Nickerson, Deborah A; Kim, Choel; Milewicz, Dianna M

    2013-08-08

    Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial thoracic aortic disease identified the same rare variant, PRKG1 c.530G>A (p.Arg177Gln), in four families. This mutation segregated with aortic disease in these families with a combined two-point LOD score of 7.88. The majority of affected individuals presented with acute aortic dissections (63%) at relatively young ages (mean 31 years, range 17-51 years). PRKG1 encodes type I cGMP-dependent protein kinase (PKG-1), which is activated upon binding of cGMP and controls SMC relaxation. Although the p.Arg177Gln alteration disrupts binding to the high-affinity cGMP binding site within the regulatory domain, the altered PKG-1 is constitutively active even in the absence of cGMP. The increased PKG-1 activity leads to decreased phosphorylation of the myosin regulatory light chain in fibroblasts and is predicted to cause decreased contraction of vascular SMCs. Thus, identification of a gain-of-function mutation in PRKG1 as a cause of thoracic aortic disease provides further evidence that proper SMC contractile function is critical for maintaining the integrity of the thoracic aorta throughout a lifetime.

  20. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

    PubMed Central

    Halwai, Hemant Kumar

    2017-01-01

    Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association. PMID:28377826

  1. Advances in the Treatment of Syndromic Midface Hypoplasia Using Monobloc and Facial Bipartition Distraction Osteogenesis

    PubMed Central

    Kumar, Anand R.; Steinbacher, Derek

    2014-01-01

    Midface hypoplasia or retrusion remains a persistent feature of syndromic craniosynostosis years after successful treatment of the cranium. Although expansion of the cranial vault in infancy by traditional fronto-orbital advancement, posterior expansion, or both, can treat the immediate intracranial constriction, midface hypoplasia and its stigmata of exorbitism, sleep apnea, central face concavity, and malocclusion remain suboptimally treated. Initial enthusiasm for the procedures was tempered due to a high rate of infectious complications; timing and indications for surgery continue to stir controversy. During the last decade renewed interest with the monobloc and facial bipartition procedure using distraction osteogenesis with either an internal or external distraction system has decreased morbidity significantly. These procedures have re-emerged as powerful and comprehensive tools in the treatment of syndromic midface hypoplasia. PMID:26417208

  2. Isolated Left Ventricular Apical Hypoplasia with Right Ventricular Outflow Tract Obstruction: A Rare Combination.

    PubMed

    Zhao, Yonghui; Zhang, Jiaying; Zhang, Jing

    2015-09-01

    Isolated left ventricular (LV) apical hypoplasia is a unusual and recently recognized congenital cardiac anomaly. A 19-year-old man was found to have an abnormal ECG and cardiac murmur identified during a routine health check since joining work. His ECG revealed normal sinus rhythm, right-axis deviation, poor R wave progression, and T wave abnormalities. On physical examination, a 2/6~3/6 systolic murmur was heard at the second intercostal space along the left sternal border. Subsequent echocardiography and cardiac magnetic resonance imaging confirmed the LV apical hypoplasia. Of note, we first found that LV apical hypoplasia was accompanied by RV outflow tract obstruction due to exaggerated rightward bulging of the basal-anterior septum during systole. A close follow-up was performed for the development of heart failure, pulmonary hypertension, and potentially tachyarrhythmia.

  3. Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia

    PubMed Central

    Kim, Woo Jin; Kim, Jong Ha; Cho, Nam Chun

    2017-01-01

    Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now. PMID:28300742

  4. Localised enamel hypoplasia of human deciduous canines: genotype or environment?

    PubMed

    Taji, S; Hughes, T; Rogers, J; Townsend, G

    2000-06-01

    A discrete area of defective enamel formation that appears on the labial surface of the crowns of deciduous canine teeth has been described in both recent and prehistoric human populations, with reported frequencies varying from 1 to 45 per cent. Suggestions about the aetiology of this localized hypoplasia range from genotypic factors to environmental conditions and systemic effects. The major aims of this study were to describe the frequency of occurrence and pattern of expression of the lesion in Australian Aboriginal and Caucasian ethnic groups, and to clarify the role of genetic factors by examining a sample of twins. The study sample consisted of dental casts of 181 pairs of Australian Caucasian twins, 215 Aborigines and 122 Caucasian singletons, together with 253 extracted deciduous canines. Examination of dental casts and extracted teeth was undertaken under 2x magnification with emphasis being placed upon location and expression of the lesion. The defect was observed in 49 per cent of twins and 44 per cent of Aborigines, but only 36 per cent of singletons. The percentages of affected teeth in each group were: 18 per cent in twins, 17 per cent in Aborigines and 13 per cent in Caucasians. A significant proportion of the defects occurred on the mesial aspect of the labial surface, in the middle area incisocervically, with the majority in the lower jaw. A number of significant differences in frequency were observed between groups, sexes, arches and sides. The results confirm some of the findings of previous studies, but also suggest that none of environmental, genetic or systemic factors can be ruled out as being involved in aetiology of the defect. The higher incidence of the lesion occurring on the mesial aspect of the labial surface is suggestive of physical trauma. Also, the vulnerability of the prominent developing mandibular canine, with its thin or missing labial covering of bone, would be expected to lead to higher prevalence of the lesion in the lower

  5. Diffusion of Alexa Fluor 488-conjugated dendrimers in rat aortic tissue.

    PubMed

    Cho, Brenda S; Roelofs, Karen J; Majoros, Istvan J; Baker, James R; Stanley, James C; Henke, Peter K; Upchurch, Gilbert R

    2006-11-01

    In this study, the distribution of labeled dendrimers in native and aneurysmal rat aortic tissue was examined. Adult male rats underwent infrarenal aorta perfusion with generation 5 (G5) acetylated Alexa Fluor 488-conjugated dendrimers for varying lengths of time. In a second set of experiments, rats underwent aortic elastase perfusion followed by aortic dendrimer perfusion 7 days later. Aortic diameters were measured prior to and postelastase perfusion, and again on the day of harvest. Aortas were harvested 0, 12, or 24 h postperfusion, fixed, and mounted. Native aortas were harvested and viewed as negative controls. Aortic cross-sections were viewed and imaged using confocal microscopy. Dendrimers were quantified (counts/high-powered field). Results were evaluated by repeated measures ANOVA and Student's t-test. We found that in native aortas, dendrimers penetrated the aortic wall in all groups. For all perfusion times, fewer dendrimers were present as time between dendrimer perfusion and aortic harvest increased. Longer perfusion times resulted in increased diffusion of dendrimers throughout the aortic wall. By 24 h, the majority of the dendrimers were through the wall. Dendrimers in aneurysmal aortas, on day 0 postdendrimer perfusion, diffused farther into the aortic wall than controls. In conclusion, this study documents labeled dendrimers delivered intra-arterially to native rat aortas in vivo, and the temporal diffusion of these molecules within the aortic wall. Increasing perfusion time and length of time prior to harvest resulted in continued dendrimer diffusion into the aortic wall. These preliminary data provide a novel mechanism whereby local inhibitory therapy may be delivered locally to aortic tissue.

  6. Robust segmentation methods with an application to aortic pulse wave velocity calculation.

    PubMed

    Babin, Danilo; Devos, Daniel; Pižurica, Aleksandra; Westenberg, Jos; Vansteenkiste, Ewout; Philips, Wilfried

    2014-04-01

    Aortic stiffness has proven to be an important diagnostic and prognostic factor of many cardiovascular diseases, as well as an estimate of overall cardiovascular health. Pulse wave velocity (PWV) represents a good measure of the aortic stiffness, while the aortic distensibility is used as an aortic elasticity index. Obtaining the PWV and the aortic distensibility from magnetic resonance imaging (MRI) data requires diverse segmentation tasks, namely the extraction of the aortic center line and the segmentation of aortic regions, combined with signal processing methods for the analysis of the pulse wave. In our study non-contrasted MRI images of abdomen were used in healthy volunteers (22 data sets) for the sake of non-invasive analysis and contrasted magnetic resonance (MR) images were used for the aortic examination of Marfan syndrome patients (8 data sets). In this research we present a novel robust segmentation technique for the PWV and aortic distensibility calculation as a complete image processing toolbox. We introduce a novel graph-based method for the centerline extraction of a thoraco-abdominal aorta for the length calculation from 3-D MRI data, robust to artifacts and noise. Moreover, we design a new projection-based segmentation method for transverse aortic region delineation in cardiac magnetic resonance (CMR) images which is robust to high presence of artifacts. Finally, we propose a novel method for analysis of velocity curves in order to obtain pulse wave propagation times. In order to validate the proposed method we compare the obtained results with manually determined aortic centerlines and a region segmentation by an expert, while the results of the PWV measurement were compared to a validated software (LUMC, Leiden, the Netherlands). The obtained results show high correctness and effectiveness of our method for the aortic PWV and distensibility calculation.

  7. Screening for Abdominal Aortic Aneurysm

    MedlinePlus

    ... signs or symptoms of an abdominal aortic aneurysm (AAA). The final recommendation statement summarizes what the Task ... the potential benefits and harms of screening for AAA: (1) Men ages 65 to 75 who smoke ...

  8. Bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in five painted storks.

    PubMed

    Weber, Martha A; Terrell, Scott P; Neiffer, Donald L; Miller, Michele A; Mangold, Barbara J

    2002-08-01

    Five painted storks were treated with fenbendazole for 5 days for internal parasitism. Four birds died following treatment. Profound heteropenia was a consistent finding in all samples evaluated; additionally, the 1 surviving bird had progressive anemia. Consistent necropsy findings in the 4 birds that died were small intestinal crypt cell necrosis and severe bone marrow depletion and necrosis. Fenbendazole has been associated with bone marrow hypoplasia and enteric damage in mammals and other species of birds. The dosages of fenbendazole used in birds are often substantially higher than those recommended for mammals, which may contribute to bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in birds.

  9. Lung hypoplasia and surfactant system immaturity induced in the fetal rat by prenatal exposure to nitrofen.

    PubMed

    Alfanso, L F; Arnaiz, A; Alvarez, F J; Qi, B; Diez-Pardo, J A; Vallis-i-Soler, A; Tovar, J A

    1996-01-01

    We studied the biochemical maturity of the lungs of fetuses born to rats exposed to nitrofen on day 9.5 of gestation. In comparison with controls, nitrofen-treated fetuses had pulmonary hypoplasia (decreased lung/body weight), lung hypocellularity (low DNA content) and cellular atrophy (low protein/DNA and phospholipid/DNA) on gestational days 19 and 21. Treated animals with congenital diaphragmatic hernia (CDH) also had cell atrophy and surfactant immaturity (decreased disaturated phosphatidylcholine/DNA) near term. Our data demonstrate that nitrofen causes lung hypoplasia and some degree of surfactant system immaturity that is particularly prominent in fetuses with CDH.

  10. Glutaraldehyde-fixed kangaroo aortic wall tissue: histology, crosslink stability and calcification potential.

    PubMed

    Neethling, W M L; Hodge, A J; Glancy, R

    2003-07-15

    Stentless aortic heart valve substitutes, manufactured from biological tissues, are fixed with glutaraldehyde to cross-link collagen, reduce antigenicity, and sterilize the tissue. Despite improved cross linking, reduced antigenicity, and various anticalcification measures, the aortic wall tissue present in these prostheses tends to calcify. The aim of this study was to assess the morphology, collagen cross-link stability, and calcification potential of glutaraldehyde-preserved kangaroo aortic wall tissue as opposed to porcine aortic wall tissue. Porcine and kangaroo aortic wall tissues were fixed in 0.625% buffered glutaraldehyde. Histology and cross-link stability were examined. Calcification potential was determined in the subcutaneous rat model. Kangaroo aortic wall tissue was significantly (p < 0.01) less calcified than porcine aortic wall tissue (26.67 +/- 6.53 versus 41.959 +/- 2.75 microg/mg tissue) at 8 weeks. In conclusion, the histological differences between kangaroo and porcine aortic wall tissue correlate well with the reduced calcification potential of kangaroo aortic wall tissue. The reduced calcification potential could result in improved long-term durability of stentless kangaroo heart valves as bioprostheses.

  11. Angiotensin II receptor blocker telmisartan attenuates aortic stiffening and remodelling in STZ-diabetic rats

    PubMed Central

    2014-01-01

    Background Prevention or attenuation of diabetic vascular complications includes anti-hypertensive treatment with renin-angiotensin system inhibitors on account of their protective effects beyond blood pressure reduction. The present study aimed to investigate the effects of telmisartan, an angiotensin II type 1 receptor blocker (ARB), on blood pressure, aortic stiffening, and aortic remodelling in experimental type 1 diabetes in rats. Methods Diabetes was induced by streptozotocin (STZ) (65 mg/kg) in male Wistar rats. One diabetic group was treated for 10 weeks with telmisartan (10 mg/kg/day p/o). Pressure-independent aortic pulse wave velocity (PWV) was measured under anaesthesia after intravenous infusion of phenylephrine and nitroglycerine. Aortic wall samples were collected for histomorphometrical analysis. Results Untreated diabetes imposed differential effects on aortic stiffening, as demonstrated by increased isobaric PWV over a range of high blood pressures, but not at lower blood pressures. This was associated with loss and disruption of elastin fibres and an increase in collagen fibres in the aortic media. Treatment with telmisartan decreased resting blood pressure, reduced aortic stiffness, and partially prevented the degradation of elastin network within the aortic wall. Conclusions Telmisartan improved the structural and functional indices of aortic stiffening induced by untreated STZ-diabetes, demonstrating the importance of ARBs in the therapeutic approach to diabetic vascular complications. PMID:24920962

  12. Aortic Valve Replacement for Moderate Aortic Stenosis with Severe Calcification and Left Ventricualr Dysfunction—A Case Report and Review of the Literature

    PubMed Central

    Narang, Nikhil; Lang, Roberto M.; Liarski, Vladimir M.; Jeevanandam, Valluvan; Hofmann Bowman, Marion A.

    2017-01-01

    A 55-year-old man with a history of erosive, seropositive rheumatoid arthritis (RA), and interstitial lung disease presented with shortness of breath. Echocardiography showed new-onset severe left ventricular (LV) dysfunction with an ejection fraction (EF) of 15% and moderately increased mean aortic valve gradient of 20 mmHg in a trileaflet aortic valve with severe sclero-calcific degeneration. Coronary angiography revealed no significant obstructive coronary disease. Invasive hemodynamic studies and dobutamine stress echocardiography were consistent with moderate aortic stenosis. Guideline directed medical therapy for heart failure with reduced EF was initiated; however, diuretics and neurohormonal blockade (beta-blocker and angiotensin receptor blocker) provided minimal improvement, and the patient remained functionally limited. Of interest, echocardiography performed 1 year prior to his presentation showed normal LV EF and mild aortic leaflet calcification with moderate stenosis, suggesting a rapid progressing of calcific aortic valve disease. Subsequently, the patient underwent surgical aortic valve replacement and demonstrated excellent postsurgical recovery of LV EF (55%). Calcific aortic valve disease is commonly associated with aging, bicuspid aortic valve, and chronic kidney disease. Pathophysiological mechanism for valvular calcification is incompletely understood but include osteogenic transformation of valvular interstitial cells mediated by local and systemic inflammatory processes. Several rheumatologic diseases including RA are associated with premature atherosclerosis and arterial calcification, and we speculated a similar role of RA accelerating calcific aortic valve disease. We present a case of accelerated aortic valve calcification with (only) moderate stenosis, complicated by a rapid decline in LV systolic performance. Guidelines for AVR in moderate stenosis without concomitant cardiac surgery are not well established, although it should be

  13. Use of the Konno procedure in an 80-year-old woman with aortic stenosis, a narrow left ventricular outflow tract, and a small aortic annulus.

    PubMed

    Misumi, Hiroyasu; Katayama, Yukihiro; Takaji, Kentaro; Oshitomi, Takashi; Uesugi, Hideyuki; Hirayama, Touitsu; Takeuchi, Takamasa

    2014-01-01

    This report describes a technique for repairing an aortic stenosis in an elderly patient with a small aortic annulus and a narrow left ventricular outflow tract. Preoperative echocardiography in an 80-year-old woman showed severe aortic stenosis with a narrow outflow tract: the aortic valve area was 0.48 cm(2), the aortic annular diameter was 14 mm, and the left ventricular outflow tract diameter was 14 mm. The Konno procedure was used to enlarge both the small aortic annulus and the left ventricular outflow tract, and a 19-mm Carpentier-Edwards bioprosthetic valve was implanted. The patient's postoperative course was uneventful. The left ventricular mass decreased from a preoperative value of 236 g to 96 g, 3 years after surgery. Only a few reports have described the use of the Konno operation in adult patients. In the present case, the Konno operation was demonstrated to be a good option for aortic stenosis accompanied by a small aortic annulus and a narrow left ventricular outflow tract, even in an elderly patient.

  14. Repair of anastomotic abdominal aortic pseudoaneurysm utilizing sequential AneuRx aortic cuffs in an overlapping configuration.

    PubMed

    Zhou, Wei; Bush, Ruth L; Bhama, Jay K; Lin, Peter H; Safaya, Rakesh; Lumsden, Alan B

    2006-01-01

    Anastomotic aortic pseudoaneurysm is a known late complication following aortic repair and presents a considerable surgical challenge. We herein evaluate the endovascular alternative of using sequential AneuRx aortic cuffs to bridge the degenerative anastomotic pseudoaneurysms as a definitive treatment. Over a 3-year period, six patients with a mean age of 68.7 years (range 58-75) were identified who had proximal anastomotic aortic pseudoaneurysms secondary to previously implanted bifurcated aortic grafts (mean 15, range 12-20 years) following open surgical correction of aortoiliac occlusive disease. Five patients (83%) presented with concomitant palpable femoral anastomotic pseudoaneurysms and one patient (16%) had a pulsatile abdominal mass. All patients had computed tomographic (CT) scans confirming proximal anastomotic pseudoaneuryms without evidence of infection. The mean diameter of the pseudoaneurysms was 5.3 cm (range 4.0-7.0). Five patients were treated with endovascular methods, while one patient was not suitable for endovascular repair due to the diameter of the native aorta as seen on imaging study at the time of the procedure. AneuRx aortic extender cuffs (3.75 cm length) were deployed sequentially in five patients via a femoral approach. Devices were overlapped approximately 1.5 cm in order to achieve total exclusion of the pseudoaneurysms, and all concomitant femoral aneurysms were repaired surgically at the same time. Successful exclusion of the anastomotic pseudoaneurysm was achieved in four patients (80%) using a combination of two or three overlapping aortic cuffs. One patient had a small residual endoleak that had sealed by 1 month, evidenced by follow-up CT. The renal arteries were preserved in all patients. The average estimated blood loss and operative time were 355 +/- 25 cc and 84 +/- 21 min, respectively. The average length of hospital stay was 2.1 days, and there was no mortality or major morbidity. All patients underwent CT scanning

  15. Aortic Annulus Enlargement: Early and Long-Terms Results

    PubMed Central

    Dumani, Selman; Likaj, Ermal; Dibra, Laureta; Beca, Vera; Kuci, Saimir; Refatllari, Ali

    2017-01-01

    AIM: Patient-prosthesis mismatch (PPM) is a common occurrence in aortic valve surgery. Even the discussions about the impact of this phenomenon on the results of aortic valve surgery, the management of this problem remain one of the main topics in this kind of surgery. One of the ways of a solution is aortic annulus enlargement. The main topic of this study is to evaluate the early and longterm results of this technique in our country. METHODS: During the period January 2010 –January 2015, 641 patients performed aortic valve surgery. In ten patients we performed aortic annulus enlargement according to Manouguian technique to avoid severe patient-prothesis mismatch. Operative mortality and perioperative complications (low cardiac output, pulmonary complications, etc..) were considered the indicators of the early results. Survival, clinical presentation according to NYHA, quality of life were the indicators to evaluate long-term results. Preoperative and postoperative echocardiographic data were also used to evaluate our results. We collected the data from hospital registrations and periodical clinical visit and echographic examination after hospital discharge. RESULTS: In our group, 6 of 10 patients were diagnosed with stenotic aortic valve, two patients had aortic valve regurgitation and two mixed valve pathology. Four patients had concomitant cardiac surgery procedure, mitral or CABG. In all cases, aortic valve pathology was the primary diagnose. In the preoperative echocardiographic examination mean transvalvular gradient was 54.3 ± 6.42. We had no death during early or late postoperative period. Only one patient had pulmonary complications and long time of respiratory assistance because of his pulmonary pathology. The same patient had low cardiac output and wound infection. Early after surgery mean transprostethic gradient was 16.2 ± 3.44 and late postoperative was 15.9 ± 4.3. No patient had the severe patient-prothesis mismatch. Mean follow-up was 49 ± 20

  16. Missed diagnosis of Behçet disease causing aortic regurgitation.

    PubMed

    Tham, Yi Chuan; Sin, Yoong Kong

    2016-02-01

    Aortic regurgitation is a rare and serious presentation of Behçet's disease. Here we describe a case of missed diagnosis of Behçet's disease in a 37-year-old man, causing symptomatic aortic regurgitation. Perioperative diagnosis of Behçet's aortitis is crucial because surgical intervention carries high reoperative morbidity and mortality.

  17. One-step surgical approach of a thoracic aortic aneurysm in Wiskott-Aldrich syndrome.

    PubMed

    Bernabeu, Eduardo; Josa, Miguel; Nomdedeu, Benet; Ramírez, José; García-Valentín, Antonio; Mestres, Carlos A; Mulet, Jaime

    2007-04-01

    Wiskott-Aldrich syndrome is a primary immunodeficiency characterized by infections, thrombocytopenia, and eczema. We present a 33-year-old man with this syndrome who underwent a one-stage ascending aorta, aortic arch and descending aortic aneurysm repair under moderate hypothermia and continuous visceral and cerebral perfusion. Histologic examination showed the presence of an aortitis with granulomatous inflammatory response and multinucleated cells.

  18. Salvage Extracorporeal Membrane Oxygenation Prior to "Bridge" Transcatheter Aortic Valve Replacement.

    PubMed

    Chiu, Peter; Fearon, William F; Raleigh, Lindsay A; Burdon, Grayson; Rao, Vidya; Boyd, Jack H; Yeung, Alan C; Miller, David Craig; Fischbein, Michael P

    2016-06-01

    We describe a patient who presented in profound cardiogenic shock due to bioprosthetic aortic valve stenosis requiring salvage Extracorporeal Membrane Oxygenation followed by a "bridge" valve-in-valve transcatheter aortic valve replacement. doi: 10.1111/jocs.12750 (J Card Surg 2016;31:403-405).

  19. Inflammatory abdominal aortic aneurysm: a persistent painful hip

    PubMed Central

    Baskaran, Dinnish; Ashraf, Nadeem; Ahmad, Adil; Menon, Jay

    2013-01-01

    The presentation of an abdominal aortic aneurysm (AAA) with isolated hip pain is a rare phenomenon. We present an atypical case of a 58-year-old previously fit man who presented with a 6-month history of progressively worsening left hip pain associated with unintentional weight loss, tender bilateral testicular swellings and a large non-tender palpable mass on abdominal examination. Urgent abdominal CT scan findings revealed a 15 cm infrarenal abdominal aortic aneurysm extending to the aortic bifurcation associated with an extensive left hydronephrosis. In theatre, the diagnosis of inflammatory AAA (IAAA) was confirmed following the presence of pyuria and a successful repair with an open approach using a bifurcated dacron graft was performed. PMID:24038286

  20. Inflammatory abdominal aortic aneurysm: a persistent painful hip.

    PubMed

    Baskaran, Dinnish; Ashraf, Nadeem; Ahmad, Adil; Menon, Jay

    2013-09-13

    The presentation of an abdominal aortic aneurysm (AAA) with isolated hip pain is a rare phenomenon. We present an atypical case of a 58-year-old previously fit man who presented with a 6-month history of progressively worsening left hip pain associated with unintentional weight loss, tender bilateral testicular swellings and a large non-tender palpable mass on abdominal examination. Urgent abdominal CT scan findings revealed a 15 cm infrarenal abdominal aortic aneurysm extending to the aortic bifurcation associated with an extensive left hydronephrosis. In theatre, the diagnosis of inflammatory AAA (IAAA) was confirmed following the presence of pyuria and a successful repair with an open approach using a bifurcated dacron graft was performed.

  1. Rare or unusual causes of chronic, isolated, pure aortic regurgitation

    SciTech Connect

    Waller, B.F.; Taliercio, C.P.; Dickos, D.K.; Howard, J.; Adlam, J.H.; Jolly, W. )

    1990-08-01

    Six patients undergoing aortic valve replacement had rare or unusual causes of isolated, pure aortic regurgitation. Two patients had congenitally bicuspid aortic valves with a false commissure (raphe) displaced to the aortic wall (tethered bicuspid aortic valve), two had floppy aortic valves, one had a congenital quadricuspid valve, and one had radiation-induced valve damage.

  2. An unusual case of multiple aortic abnormalities: total occlusion of aortic arch, left external iliac artery, and bicuspid aortic valve in a 21-year-old man.

    PubMed

    Tanindi, Asli; Tavil, Yusuf; Mutluay, Ruya; Taktak, Hacer; Cengel, Atiye

    2007-03-01

    An unusual case of total occlusion of aorta just distal to the left subclavian artery, bicuspid aortic valve, and occluded left external iliac artery in a 21-year-old man who was admitted with headache and severe hypertension is presented. We wish to report this case because so far there have been none reported with such multiple aortic abnormalities, although several documented cases of isolated total occlusion of aorta exist. Our patient underwent a successful surgical correction, i.e., patch plasty to the coarcted segment and end to side - end to side aortal-aortal bypass with Dacron graft.

  3. Linkage analysis excludes the glaucoma locus on 1q from involvement in autosomal dominant glaucoma with iris hypoplasia

    SciTech Connect

    Heon, E.; Sheth, B.P.; Kalenak, J.W.

    1994-09-01

    Genetic factors have been implicated in a variety of types of glaucoma including primary open-angle glaucoma, infantile glaucoma, pigmentary glaucoma, and juvenile open-angle glaucoma. We previously mapped the disease-causing gene for one type of juvenile open angle glaucoma to chromosome 1q21-31. Weatherill and Hart (1969) and Pearce (1983) each noted the association of iris hypoplasia and early-onset autosomal dominant glaucoma. We recently had the opportunity to study a large family (12 affected members) with this phenotype. Affected individuals developed glaucoma at an average age of 30 years. These patients also have a strikingly underdeveloped iris stroma which causes a peculiar eye color. Linkage analysis was able to completely exclude the 1q glaucoma locus from involvement in the disorder that affects this family. A complete clinical description of the family and linkage results at additional candidate loci will be presented.

  4. Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

    PubMed Central

    Boycott, Kym M.; Flavelle, Shauna; Bureau, Alexandre; Glass, Hannah C.; Fujiwara, T. Mary; Wirrell, Elaine; Davey, Krista; Chudley, Albert E.; Scott, James N.; McLeod, D. Ross; Parboosingh, Jillian S.

    2005-01-01

    An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population. An identity-by-descent mapping approach using eight patients from three interrelated Hutterite families localized the gene for this syndrome to chromosome region 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region to a 2-Mb interval between markers D9S129 and D9S1871. A 199-kb homozygous deletion encompassing the entire very low density lipoprotein receptor (VLDLR) gene was present in all affected individuals. VLDLR is part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect. PMID:16080122

  5. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I.

    PubMed

    Rath, Rachna; Kaur, Sheetal; Baig, Shadab Ali; Pati, Punyashlok; Sahoo, Sonalisa

    2016-01-01

    Neurofibromatosis type 1 (NF1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO) and extraosseous (EO) neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG), three-dimensional computed tomography (3D CT) and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI) helped to identify the solid nature of the lesion and true extent of the soft tissue mass.

  6. Congenital lymphatic hypoplasia in unilateral lower limb with abnormal technetium-99m sulphur colloid uptake in both breasts

    PubMed Central

    Padma, Subramanyam; Sundaram, Palaniswamy Shanmuga

    2014-01-01

    We present a patient with Meige like lymphedema (left lower limb hypoplasia) with asymptomatic minimal accumulation of Technetium-99m sulfur colloid in bilateral breasts. We attribute the possible pathology to accumulation of interstitial fluid in hypoplastic left lower limb leading to dilatation of the remaining outflow tracts and valvular incompetence. This may be causing reversal of flow from subcutaneous tissues into the dermal plexus involving the breast. Other possibilities include formation of spontaneous lymphovenous shunt or lymphatic intercommunication at lower trunk level as a result of increased pressure leading to minimal lymph accumulation in breasts. Later a mammogram was performed which was found to be normal. MR also confirmed no cisterna chyli abnormalities or aberrant lymphatic channels in lower thorax region that may be the explanation for the abnormal sulphur colloid uptake in both breasts. PMID:25400372

  7. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I

    PubMed Central

    Kaur, Sheetal; Baig, Shadab Ali; Pati, Punyashlok; Sahoo, Sonalisa

    2016-01-01

    Neurofibromatosis type 1 (NF1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO) and extraosseous (EO) neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG), three-dimensional computed tomography (3D CT) and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI) helped to identify the solid nature of the lesion and true extent of the soft tissue mass. PMID:27382495

  8. Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.

    PubMed

    Kwan, Andrea; Manning, M A; Zollars, Linda K; Hoyme, H Eugene

    2012-11-01

    Cartilage-hair hypoplasia (CHH) is a rare recessive metaphyseal chondrodysplasia characterized by severe short stature, ectodermal dysplasia, anemia in childhood, immune deficiency, susceptibility to malignancy, and normal intelligence. Short, thick long bones, metaphyseal flaring and irregularities, and globular epiphyses at the knees and ankles are the typical radiographic findings. The diagnosis is primarily made on the basis of clinical features, although mutations in the RMRP gene have recently been described in affected individuals, facilitating confirmation of the clinical diagnosis in atypical patients. We present a patient with two RMRP mutations whose stature and ectodermal features supported the diagnosis of CHH, but whose radiographic findings and other extraskeletal findings did not. We propose that the most consistent and reliable features of CHH are short stature of prenatal onset and ectodermal dysplasia, and suggest that the diagnosis of CHH be considered and mutation analysis pursued even when typical radiographic findings are absent.

  9. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

    PubMed Central

    Boczonadi, Veronika; Müller, Juliane S.; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; Ferrero, Ileana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez-Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J.; Chinnery, Patrick F.; Edvardson, Shimon; Horvath, Rita

    2014-01-01

    The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease. Experimental downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation. These findings show the central role of the exosomal pathway in neurodegenerative disease. PMID:24989451

  10. Transcatheter aortic valve implantation (TAVI) versus sutureless aortic valve replacement (SUAVR) for aortic stenosis: a systematic review and meta-analysis of matched studies

    PubMed Central

    Tsai, Yi-Chin; Niles, Natasha; Tchantchaleishvili, Vakhtang; Di Eusanio, Marco; Yan, Tristan D.; Phan, Kevin

    2016-01-01

    Background With improving technologies and an increasingly elderly populations, there have been an increasing number of therapeutic options available for patients requiring aortic valve replacement. Recent evidence suggests that transcatheter aortic valve implantation (TAVI) is one suitable option for high risk inoperable patients, as well as high risk operable patients. Sutureless valve technology has also been developed concurrently, with facilitates surgical aortic valve replacement (SUAVR) by allow resection and replacement of the native aortic valve with minimal sutures and prosthesis anchoring required. For patients amenable for both TAVI and SUAVR, the evidence is unclear with regards to the benefits and risks of either approach. The objectives are to compare the perioperative outcomes and intermediate-term survival rates of TAVI and SUAVR in matched or propensity score matched studies. Methods A systematic literature search was performed to include all matched or propensity score matched studies comparing SUAVR versus TAVI for severe aortic stenosis. A meta-analysis with odds ratios (OR) and mean differences were performed to compare key outcomes including paravalvular regurgitation and short and intermediate term mortality. Results Six studies met our inclusion criteria giving a total of 741 patients in both the SUAVR and TAVI arm of the study. Compared to TAVI, SUAVR had a lower incidence of paravalvular leak (OR =0.06; 95% CI: 0.03–0.12, P<0.01). There was no difference in perioperative mortality, however SUAVR patients had significantly better survival rates at 1 (OR =2.40; 95% CI: 1.40–4.11, P<0.01) and 2 years (OR =4.62; 95% CI: 2.62–8.12, P<0.01). Conclusions The present study supports the use of minimally invasive SUAVR as an alternative to TAVI in high risk patients requiring aortic replacement. The presented results require further validation in prospective, randomized controlled studies. PMID:28066608

  11. Bicuspid aortic valve: theoretical and clinical aspects of concomitant ascending aorta replacement.

    PubMed

    De Sá, Mauro Paes Leme; Bastos, Eduardo Sergio; Murad, Henrique

    2009-01-01

    Bicuspid aortic valve (BAV) is associated with annuloaortic ectasia, dissection and ascending aortic aneurysm. The high incidence of this congenital malformation and aortic disease suggests a close correlation between the two phenomena. Abnormalities in different phases of cell migration of the neural crest might be responsible for the occurrence of abnormalities in the aortic valve, media layer of the ascending aorta and vessels of the aortic arch. Previous studies have shown that patients with normal BAV or slight dysfunction may present with dilation of the aortic root. The hemodynamic changes caused by BAV without stenosis or insufficiency seem to be an insufficient explanation for these findings. Several mechanisms have been proposed to explain the molecular and hystological aspects of this disease. We found a reduced fibrillin-1 content in both ascending aorta and pulmonary trunk as a possible cause. Histologically, the ascending aorta can present cystic medial necrosis and elastic fragmentation, similar to Marfan's disease. Some authors concluded that many patients, mainly those with aortic regurgitation, should have the aortic valve and the ascending aorta replaced at the same procedure, even if a mild dilatation (45 mm) is present in patients with BAV if life expectancy is anticipated to be greater than 10 years to prevent further aneurysms or ruptures.

  12. Treatment of mechanical aortic valve thrombosis with heparin and eptifibatide.

    PubMed

    Vora, Amit N; Gehrig, Thomas; Bashore, Thomas M; Kiefer, Todd L

    2014-07-01

    A 75-year old woman with a history of coronary disease status post 3-vessel coronary artery bypass grafting (CABG) 8 years ago and a repeat one-vessel CABG 2 years ago in the setting of aortic valve replacement with a #19 mm St. Jude bileaflet mechanical valve for severe aortic stenosis presented with two to three weeks of progressive dyspnea and increasing substernal chest discomfort. Echocardiography revealed a gradient to 31 mmHg across her aortic valve, increased from a baseline of 13 mmHg five months previously. Fluoroscopy revealed thrombosis of her mechanical aortic valve. She was not a candidate for surgery given her multiple comorbidities, and fibrinolysis was contraindicated given a recent subdural hematoma 1 year prior to presentation. She was treated with heparin and eptifibatide and subsequently demonstrated resolution of her aortic valve thrombosis. We report the first described successful use of eptifibatide in addition to unfractionated heparin for the management of subacute valve thrombosis in a patient at high risk for repeat surgery or fibrinolysis.

  13. Coronary Flow Impacts Aortic Leaflet Mechanics and Aortic Sinus Hemodynamics.

    PubMed

    Moore, Brandon L; Dasi, Lakshmi Prasad

    2015-09-01

    Mechanical stresses on aortic valve leaflets are well-known mediators for initiating processes leading to calcific aortic valve disease. Given that non-coronary leaflets calcify first, it may be hypothesized that coronary flow originating from the ostia significantly influences aortic leaflet mechanics and sinus hemodynamics. High resolution time-resolved particle image velocimetry (PIV) measurements were conducted to map the spatiotemporal characteristics of aortic sinus blood flow and leaflet motion with and without physiological coronary flow in a well-controlled in vitro setup. The in vitro setup consists of a porcine aortic valve mounted in a physiological aorta sinus chamber with dynamically controlled coronary resistance to emulate physiological coronary flow. Results were analyzed using qualitative streak plots illustrating the spatiotemporal complexity of blood flow patterns, and quantitative velocity vector and shear stress contour plots to show differences in the mechanical environments between the coronary and non-coronary sinuses. It is shown that the presence of coronary flow pulls the classical sinus vorticity deeper into the sinus and increases flow velocity near the leaflet base. This creates a beneficial increase in shear stress and washout near the leaflet that is not seen in the non-coronary sinus. Further, leaflet opens approximately 10% farther into the sinus with coronary flow case indicating superior valve opening area. The presence of coronary flow significantly improves leaflet mechanics and sinus hemodynamics in a manner that would reduce low wall shear stress conditions while improving washout at the base of the leaflet.

  14. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

    PubMed Central

    Farag, T I; al-Awadi, S A; Marafie, M J; Bastaki, L; al-Othman, S A; Mohammed, F M; AlSuliman, I S; Murthy, D S

    1993-01-01

    A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. Images PMID:8423610

  15. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  16. A Unique Way of Learning: Teaching Young Children with Optic Nerve Hypoplasia

    ERIC Educational Resources Information Center

    Mendiola, Rosalinda; Bahar, Cheryl; Brody, Jill; Slott, Gayle L.

    2005-01-01

    This booklet was inspired by the need of educators and therapists of preschool students who are blind and visually impaired to share their observations of children with Optic Nerve Hypoplasia (ONH) and the therapies found to be helpful when working with these children. The work done at the Blind Childrens Center is very rewarding, and these…

  17. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

  18. Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea.

    PubMed

    Belfield, J C; Witana, J S; Connolly, D J A

    2007-01-01

    Melnick-Needles Syndrome is a rare disorder associated with many abnormalities. This case report describes a patient with Melnick-Needles Syndrome who was found to have bilateral hypoplasia of the cochlea, a finding not previously described in the literature. The case report describes the syndrome and demonstrates the findings on CT and MR imaging of temporal bones.

  19. Aortic root replacement with a valve-sparing technique for quadricuspid aortic valve.

    PubMed

    Yamanaka, Katsuhiro; Okada, Kenji; Okita, Yutaka

    2015-04-01

    A 67-year old man with ascending aortic aneurysm was referred because of a quadricuspid aortic valve. He underwent aortic root replacement with a valve-sparing technique. Under deep hypothermic circulatory arrest, replacement of the ascending aorta was successfully performed. The postoperative course was uneventful without recurrence of aortic regurgitation.

  20. Acute Aortic Dissection in Third Trimester Pregnancy without Risk Factors

    PubMed Central

    Kinney-Ham, Lisa; Nguyen, H. Bryant; Steele, Robert; Walters, Elizabeth L

    2011-01-01

    Spontaneous aortic dissection in pregnancy is rare and life threatening for both the mother and the fetus. Most commonly, it is associated with connective tissue disorders, cardiac valve variants, or trauma. We present the case of a 23-year-old previously healthy woman, 36 weeks pregnant with a syncopal episode after dyspnea and vomiting. She subsequently developed cardiac arrest and underwent aggressive resuscitation, emergent thoracotomy, and cesarean delivery without recovery. On autopsy, she was found to have an aortic dissection of the ascending aorta. This case is presented to raise awareness and review the literature and the clinical approach to critical care for pregnant patients. PMID:22224164

  1. Advanced, recurrent mesothelioma growth mimicking an aortic dissection.

    PubMed

    Pankhania, Miran; Hardiment, Kate; Marathe, Mandar

    2011-02-02

    In the emergency setting, a cold, clammy, dyspnoeic patient presenting with interscapular chest pain and unequal blood pressures suggests an acute aortic dissection until proven otherwise. By means of a case report, the authors detail one such patient who presented identically to one having an acute aortic dissection. Initial assessment showed unequal blood pressures in left and right arms, a resting tachycardia and indistinct heart sounds. Fluid resuscitation failed to improve the patient's physiological parameters and they rapidly deteriorated. The medical history included mesothelioma and atrial fibrillation. Existing investigations were reviewed and after thorough consideration of the patient's premorbid state and likely prognosis, the decision was made to palliate. The patient died shortly after being transferred to the oncology ward. Imaging is therefore integral to the assessment and management of a patient in whom an aortic dissection is feared.

  2. Fulminant diffuse systemic sclerosis following aortic valve replacement.

    PubMed

    Marasovic-Krstulovic, Daniela; Jurisic, Zrinka; Perkovic, Dijana; Aljinovic, Jure; Martinovic-Kaliterna, Dusanka

    2014-06-01

    We present a case of fulminant diffuse systemic sclerosis (dSSc) developed after the aortic valve replacement followed by fatal congestive heart failure within the 6 months from the initial symptoms. A 61-year-old male developed rapidly progressive diffuse systemic sclerosis following aortic valve replacement due to stenosis of bicuspid aortic valve. He presented with diarrhoea, weight loss, mialgia and arthralgia after cardiac surgery. Heart failure, due to myocardial fibrosis, was noted as a cause of death. We hypothesize that artificial materials like the ones used in mechanical valves or silicon materials in breast implants may induce fulminant course of pre-existing systemic sclerosis or create a new onset in predisposed individual.

  3. Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course.

    PubMed

    Chiappa, Enrico; Greco, Antonella; Fainardi, Valentina; Passantino, Silvia; Serranti, Daniele; Favilli, Silvia

    2015-09-01

    PHACE is a rare congenital neurocutaneous syndrome where posterior fossa malformations, hemangiomas, cerebrovascular anomalies, aortic arch anomalies, cardiac defects, and eye abnormalities are variably associated. We describe the prenatal detection and the postnatal course of a child with PHACE syndrome with a unique type of aortic arch anomaly consisting of proximal interruption of the aortic arch and persistence of the fifth aortic arch. The fifth aortic arch represented in this case a vital systemic-to-systemic connection between the ascending aorta and the transverse portion of the aortic arch allowing adequate forward flow through the aortic arch without surgical treatment.

  4. Abdominal aortic aneurysm repair - open - discharge

    MedlinePlus

    ... aortic aneurysm repair - open Aortic angiography Chest MRI Hardening of the ... Center-Shreveport, Shreveport, LA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla ...

  5. Genotype–phenotype correlation in patients with bicuspid aortic valve and aneurysm

    PubMed Central

    Kent, Kathleen C.; Crenshaw, Melissa L.; Goh, Denise L. M.; Dietz, Harry C.

    2013-01-01

    Objectives Bicuspid aortic valve is the most common congenital cardiac abnormality, occurring in 1% to 2% of the population, and often associates with ascending aortic aneurysm. Based on familial studies, bicuspid aortic valve with aneurysm segregates in an autosomal dominant manner with incomplete penetrance. NOTCH1 mutations have been reported in 6 families with prominent valve calcification and dysfunction and low penetrance of aneurysm. We sought to determine the contribution of NOTCH1 mutations to the more common phenotype of highly penetrant aneurysms with low penetrance of bicuspid aortic valve and with rare valve calcification or dysfunction. Methods All exons and splice junctions of NOTCH1 were sequenced in probands from 13 affected families presenting with bicuspid aortic valve with ascending aortic aneurysm in the absence of valve calcification. In addition, mutation analysis was performed on a single individual with aneurysm and calcified tricuspid aortic valve. Sequences were aligned and compared with the reference genomic sequence. Results Corroborating previous studies, analysis of the single sporadic patient with calcified aortic valve in the presence of ascending aortic aneurysm revealed a novel heterozygous missense mutation in NOTCH1 resulting in a nonsynonymous amino acid substitution (p.T1090S, c.C3269G) of an evolutionarily conserved residue. This change was not observed in controls. In contrast, we did not identify any pathologic NOTCH1 mutations in the 13 families segregating noncalcified bicuspid aortic valve with highly penetrant aortic aneurysm. Conclusions These data suggest that there are phenotypic differences that distinguish families with and without NOTCH1 mutations, indicating a genotype–phenotype correlation with potential implications for patient diagnosis, counseling, and management. PMID:23102684

  6. Premature closure of the spheno-occipital synchondrosis in Pfeiffer syndrome: a link to midface hypoplasia.

    PubMed

    Paliga, James Thomas; Goldstein, Jesse A; Vossough, Arastoo; Bartlett, Scott P; Taylor, Jesse Adam

    2014-01-01

    The spheno-occipital synchondrosis (SOS) is a critical component of midfacial and cranial base growth. Premature closure has been associated with midface hypoplasia in animal models and syndromic craniosynostosis subpopulations with Apert and Muenke syndromes. To link premature SOS closure and midface hypoplasia in patients with Pfeiffer syndrome, a retrospective case-control study was performed in patients treated at a large craniofacial center between 1982 and 2012 diagnosed with Pfeiffer syndrome. At least 1 computed tomography (CT) scan was required to assess SOS patency. Age-/sex-matched control CT scans were also assessed for SOS patency. Three independent reviewers with high interrater reliability (κ = 0.88) graded SOS patency as open, partially closed, or completely closed. Wilcoxon rank sum test compared the Pfeiffer patients with control subjects. A total of 63 CT scans in 16 patients with Pfeiffer syndrome, all with midface hypoplasia, and 63 age-/sex-matched control scans, none of whom had midface hypoplasia, met inclusion criteria. Earliest partial SOS closure in patients with Pfeiffer syndrome was seen at 5 days compared with control subjects at 7.07 years. Earliest age at complete fusion was 2.76 years in the Pfeiffer cohort and 12.74 years in control subjects. Average age at partial closure was significantly younger (4.99 ± 3.33 years; n = 31 scans) in patients with Pfeiffer syndrome compared with control subjects (10.92 ± 3.53 years) (P = 0.0005), whereas average age at complete closure (11.90 ± 7.04 years) was not significantly different than that in control subjects (16.07 ± 3.39 years). Although definitive causality cannot be concluded, a strong correlation exists between midface hypoplasia and premature SOS closure in Pfeiffer syndrome.

  7. Middle aortic syndrome: an atypical case--a case report.

    PubMed

    Adovasio, R; Canci, U

    2000-06-01

    This case concerns a 61-year-old woman presenting with middle aortic syndrome treated by an aortoaortic thoracoabdominal polytetrafluoroethylene bypass and a right renal Dacron bypass. The case was atypical because of the patient's advanced age at the time of clinical presentation.

  8. Markers of physiological stress in juvenile bonobos (Pan paniscus): are enamel hypoplasia, skeletal development and tooth size interrelated?

    PubMed

    Lukacs, John R

    2009-07-01

    A reduction in enamel thickness due to disrupted amelogenesis is referred to as enamel hypoplasia (EH). Linear EH in permanent teeth is a widely accepted marker of systemic physiological stress. An enigmatic, nonlinear form of EH commonly manifest in great ape and human deciduous canines (dc) is known as localized hypoplasia of primary canines (LHPC). The etiology of LHPC and what it signifies-localized traumatic or systemic physiological stress-remains unclear. This report presents frequency data on LHPC, hypostotic cranial traits, and tooth size in a sample of juvenile bonobos, then tests hypotheses of intertrait association that improve knowledge of the etiology and meaning of LHPC. The fenestration hypothesis is tested using hypostotic cranial traits as a proxy for membrane bone ossification, and the relationship between tooth size, LHPC, and hypostosis is investigated. Macroscopic observations of EH, hypostotic traits, and measurements of buccolingual tooth size were conducted according to established standards. LHPC was found in 51.2% of bonobos (n = 86) and in 26% of dc teeth (n = 269). Hypostotic traits were observed in 55.2% of bonobos (n = 96). A test of the association between LHPC and hypostosis yielded nonsignificant results (chi(2) = 2.935; P = 0.0867). Primary canines were larger in specimens with LHPC than in unaffected specimens (paired samples t test; udc, P = 0.011; ldc, P = 0.018), a result consistent with the fenestration hypothesis of LHPC pathogenesis. Hypostosis was not associated with differences in tooth size (P > 0.05). LHPC may be an indirect indicator of physiological stress, resulting from large, buccally displaced primary canines.

  9. Surgical Repair of Retrograde Type A Aortic Dissection after Thoracic Endovascular Aortic Repair

    PubMed Central

    Kim, Chang-Young; Kim, Yeon Soo; Ryoo, Ji Yoon

    2014-01-01

    It is expected that the stent graft will become an alternative method for treating aortic diseases or reducing the extent of surgery; therefore, thoracic endovascular aortic repair has widened its indications. However, it can have rare but serious complications such as paraplegia and retrograde type A aortic dissection. Here, we report a surgical repair of retrograde type A aortic dissection that was performed after thoracic endovascular aortic repair. PMID:24570865

  10. Aortic or Mitral Valve Replacement With the Biocor and Biocor Supra

    ClinicalTrials.gov

    2016-03-09

    Aortic Valve Insufficiency; Aortic Valve Regurgitation; Aortic Valve Stenosis; Aortic Valve Incompetence; Mitral Valve Insufficiency; Mitral Valve Regurgitation; Mitral Valve Stenosis; Mitral Valve Incompetence

  11. A planning system for transapical aortic valve implantation

    NASA Astrophysics Data System (ADS)

    Gessat, Michael; Merk, Denis R.; Falk, Volkmar; Walther, Thomas; Jacobs, Stefan; Nöttling, Alois; Burgert, Oliver

    2009-02-01

    Stenosis of the aortic valve is a common cardiac disease. It is usually corrected surgically by replacing the valve with a mechanical or biological prosthesis. Transapical aortic valve implantation is an experimental minimally invasive surgical technique that is applied to patients with high operative risk to avoid pulmonary arrest. A stented biological prosthesis is mounted on a catheter. Through small incisions in the fifth intercostal space and the apex of the heart, the catheter is positioned under flouroscopy in the aortic root. The stent is expanded and unfolds the valve which is thereby implanted into the aortic root. Exact targeting is crucial, since major complications can arise from a misplaced valve. Planning software for the perioperative use is presented that allows for selection of the best fitting implant and calculation of the safe target area for that implant. The software uses contrast enhanced perioperative DynaCT images acquired under rapid pacing. In a semiautomatic process, a surface segmentation of the aortic root is created. User selected anatomical landmarks are used to calculate the geometric constraints for the size and position of the implant. The software is integrated into a PACS network based on DICOM communication to query and receive the images and implants templates from a PACS server. The planning results can be exported to the same server and from there can be rertieved by an intraoperative catheter guidance device.

  12. Particle Image Velocimetry studies of bicuspid aortic valve hemodynamics

    NASA Astrophysics Data System (ADS)

    Saikrishnan, Neelakantan; Yap, Choon-Hwai; Yoganathan, Ajit P.

    2010-11-01

    Bicuspid aortic valves (BAVs) are a congenital anomaly of the aortic valve with two fused leaflets, affecting about 1-2% of the population. BAV patients have much higher incidence of valve calcification & aortic dilatation, which may be related to altered mechanical forces from BAV hemodynamics. This study aims to characterize BAV hemodynamics using Particle Image Velocimetry(PIV). BAV models are constructed from normal explanted porcine aortic valves by suturing two leaflets together. The valves are mounted in an acrylic chamber with two sinuses & tested in a pulsatile flow loop at physiological conditions. 2D PIV is performed to obtain flow fields in three planes downstream of the valve. The stenosed BAV causes an eccentric jet, resulting in a very strong vortex in the normal sinus. The bicuspid sinus vortex appears much weaker, but more unstable. Unsteady oscillatory shear stresses are also observed, which have been associated with adverse biological response; characterization of the hemodynamics of BAVs will provide the first step to understanding these processes better. Results from multiple BAV models of varying levels of stenosis will be presented & higher stenosis corresponded to stronger jets & increased aortic wall shear stresses.

  13. [Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia].

    PubMed

    Deli, Tamás; Kovács, Tamás

    2010-06-13

    We present the case of an 18-year-old woman with her second pregnancy, whose first pregnancy was complicated by polyhydramnios. At week 30, the dysmorph fetus died in utero and was delivered via cesarean section due to placental abruption, but the exact diagnosis was not recognized at that time. During the patient's second pregnancy, increasing polyhydramnios was detected from the 19th gestational week. Ultrasound signs of fetal malformation also appeared later: abnormal position of limbs, narrow chest, oedema around the skull, and absence of stomach content. At week 34, decompression amniocentesis became necessary. Chromosome analysis was also carried out and a normal karyotype was obtained. At 39th gestational week, amnioscopy proved meconium staining of the amniotic fluid, thus labour was induced. Following amniotomy, sustained fetal bradycardia commenced and an emergency caesarean section was performed. Despite complex resuscitation, the 3000 gram male newborn died 2.5 hours after delivery, due to respiratory failure. Autopsy and histopathologic examination revealed a large, oedematous head, micrognathia, macroglossia, laryngeal oedema, narrow chest with pulmonary hypoplasia, gracile limbs with muscle atrophy, gracile and bent fingers, and a short umbilical cord. Based on the medical history, the course of the disease and the phenotype of the newborn, Pena-Shokeir syndrome type I was diagnosed. In the second part of the article, we review the etiology, pathogenesis, prenatal diagnosis and differential diagnosis of this syndrome, as well as some aspects of genetic counseling in such cases. To our knowledge, this is the first reported case of Pena-Shokeir syndrome in Hungary.

  14. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.

    PubMed

    Gisseman, Jordan D; Herce, Honey H

    2016-03-01

    Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on the ocular manifestations of FDH. This is a prospective, non-consecutive, observational case series. Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for FDH, Goltz Syndrome, as a component of a larger multi-subspecialty study to better characterize the findings of this condition. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts, nystagmus, and strabismus. A complete ophthalmologic exam was done on all the patients. The mean patient age was 12.8 years (1-55 years). Eighty-nine percent were female and 77% (14/18) of patients had some form of an ophthalmologic manifestation of the condition. Ophthalmological findings included chorioretinal colobomas (61%), iris colobomas (50%), microphthalmia (44%), anophthalmia (11%), cataracts (11%), and conjunctival and eyelid papillomas (5%). Nystagmus was present in 33% and strabismus in 22% of the patients. Visual acuity ranged from 20/20 to no light perception. This study demonstrates a higher incidence of ophthalmologic manifestations as previously reported (77% vs. 40%). To our knowledge, this is the largest case series reported in the literature with 18 patients.

  15. A case of an aortic dissection in a young adult: a refresher of the literature of this "great masquerader".

    PubMed

    Pineault, Jérôme; Ouimet, Denis; Pichette, Vincent; Vallée, Michel

    2011-01-01

    Aortic dissection is often misdiagnosed, especially among young patients, and it is associated with a high mortality rate. We present here a case of fatal acute aortic dissection in a young man who was misdiagnosed with pericarditis. We reviewed the literature of acute aortic dissection in young people and we focused particularly on clinical presentations, outcomes and investigations of aortic dissection. We report a case of a 33-year-old man with a history of uncontrolled hypertension with acute pleuretic chest pain who was transferred to our hospital for suspected pulmonary embolism and died of acute hemorragic pericardial effusion from an ascendant aortic dissection. We should never rule out aortic dissection off our differential diagnosis on the sole basis of a patient's young age.

  16. Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

    PubMed Central

    Sabry, M A; Obenbergerova, D; Al-Sawan, R; Saleh, Q A; Farah, S; Al-Awadi, S A; Farag, T I

    1996-01-01

    A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia. Images PMID:8929957

  17. Balloon aortic valvuloplasty as a bridge to aortic valve replacement in a patient with severe calcific aortic stenosis

    PubMed Central

    Swinkels, B.M.; Jaarsma, W.; Wely, L. Relik-van; van Swieten, H.A.; Ernst, J.M.P.G.; Plokker, H.W.M.

    2003-01-01

    This case report describes a patient with severe calcific aortic stenosis who was initially considered inoperable because of a very poor left ventricular function and severe pulmonary hypertension. After balloon aortic valvuloplasty, the clinical and haemodynamic status of the patient improved to such an extent that subsequent aortic valve replacement was considered possible and eventually proved to be successful. Balloon aortic valvuloplasty has value as a potential bridge to aortic valve replacement when the risks for surgery are considered to be too high. ImagesFigure 1 PMID:25696195

  18. [MINIMALLY INVASIVE AORTIC VALVE REPLACEMENT].

    PubMed

    Tabata, Minoru

    2016-03-01

    Minimally invasive aortic valve replacement (MIAVR) is defined as aortic valve replacement avoiding full sternotomy. Common approaches include a partial sternotomy right thoracotomy, and a parasternal approach. MIAVR has been shown to have advantages over conventional AVR such as shorter length of stay and smaller amount of blood transfusion and better cosmesis. However, it is also known to have disadvantages such as longer cardiopulmonary bypass and aortic cross-clamp times and potential complications related to peripheral cannulation. Appropriate patient selection is very important. Since the procedure is more complex than conventional AVR, more intensive teamwork in the operating room is essential. Additionally, a team approach during postoperative management is critical to maximize the benefits of MIAVR.

  19. Pregnancy with aortic dissection in Ehler-Danlos syndrome. Staged replacement of the total aorta (10-year follow-up).

    PubMed

    Babatasi, G; Massetti, M; Bhoyroo, S; Khayat, A

    1997-10-01

    Pregnancy complicated by aortic dissection in patients with hereditary disorder of connective tissue presents interesting considerations including management of caesarean section with the unexpected need for cardiac surgery in emergency. Generalizations can be made on management principles with long-term follow-up requiring an aggressive individualized approach by a multidisciplinary team. A 33-year-old parturient presenting an aortic dissection at 37 weeks gestation required prompt diagnosis of Ehlers-Danlos syndrome in combination with correct surgical therapy resulted in the survival of both the mother and infant. During the 10-year follow-up, multiple complex dissection required transverse aortic arch and thoracoabdominal aortic replacement.

  20. Postpartum Stanford Type A Aortic Dissection: A Case Report and Review of the Literature

    PubMed Central

    Balbay, Esra; Basci, Semih; Bozkurt, Irem; Ozkok, Abdullah; Dogruyol, Sinem; Sirkeci, Emel Erkus; Oguz, Aytekin

    2013-01-01

    Acute aortic dissection is a life-threatening disease. Approximately half of the aortic dissection observed in women under 45 years old has been reported to be related to pregnancy. Herein, we present a case of type A aortic dissection diagnosed in postpartum period. A 37-year-old woman admitted to the emergency department with the complaint of sudden onset of dyspnea. Arterial blood pressure was measured as 170/100 mmHg in left arm and 90/60 mmHg in right arm. With a prediagnosis of aortic dissection, thoracic and abdominal computed tomograpy was performed and type A aortic dissection extending form carotid artery to renal arterial level was detected. Operation of aortic dissection together with coronary arterial repairment and aortic valve replacement were successfully performed. Aortic dissection is not uncommon in pregnancy and furthermore it is potentially life-threatening for both mother and fetus. A high level of suspicion is required for prompt diagnosis and treatment in the peripartum period.

  1. The everyday used nomenclature of the aortic root components: the tower of Babel?

    PubMed

    Sievers, Hans-Hinrich; Hemmer, Wolfgang; Beyersdorf, Friedhelm; Moritz, Anton; Moosdorf, Rainer; Lichtenberg, Artur; Misfeld, Martin; Charitos, Efstratios I

    2012-03-01

    Modern analyses of data for scientific reporting and healthcare management purposes require standardized and consistent definitions, something which also holds true for aortic root surgery, as part of the cardiovascular surgery spectrum. The aim of the present study was to investigate the currently employed nomenclature of the aortic root components. A questionnaire was constructed on the terminology of aortic root components, providing a list of common definitions including anatomical descriptions, as well as fields for custom responses. Responses were received from 534 cardiothoracic surgeons registered at www.ctsnet.org. Remarkable variations in definitions were detected. The most unanimously accepted terms were: 'aortic leaflets', the freely moving parts (52.6% of responses); 'commissures', the distal part of the leaflet attachments plus the peripheral area of the free edges of the leaflets (52.2%); 'semi-lunar leaflet attachment', the anatomic site of leaflet attachment (58%); 'annulus', the circular line defined by the nadirs of the leaflets (38%); 'interleaflet triangle', the tissue between two leaflets and annulus (23%); 'aortic valve', the three leaflets only (55%); 'aortic root' as composed of sinuses, tissue between the leaflets, sinutubular junction, leaflets and their wall attachment (63%). The remarkable variability on the everyday-used definitions of the aortic root components can potentially lead to misinterpretation of data. More stringent adoption of consistent, standardized definitions of aortic root components is necessary in the modern era of data collection and management.

  2. Endovascular treatment of acute type B dissection complicating aortic coarctation.

    PubMed

    Kassaian, Seyed Ebrahim; Abbasi, Kyomars; Mousavi, Mehdi; Sahebjam, Mohammad

    2013-01-01

    Surgical treatment poses a high risk to patients with concomitant aortic coarctation and dissection, and an interventional approach could be an alternative. We describe the case of a 52-year-old man with a long history of untreated hypertension and aortic coarctation who emergently presented at our institution with an acute Stanford type B dissection. The patient's elevated serum creatinine level, perfusion deficit in the right lower limb, and hypertension did not respond to medical therapy, and he did not consent to surgery. By endovascular means, we used a self-expandable stent-graft to cover the entry point of the dissection; then, we deployed a balloon-expandable bare-metal stent to correct residual stenosis. To our knowledge, this is the first report of the endovascular treatment of aortic coarctation complicated by type B dissection.

  3. [The computed tomographic diagnosis of inflammatory abdominal aortic aneurysms].

    PubMed

    Koch, J A; Grützner, G; Jungblut, R M; Kniemeyer, H W; Mödder, U

    1994-07-01

    Amongst 1599 patients undergoing surgery for abdominal aortic aneurysm, there were 89 patients (5.6%) who showed typical features of inflammatory aneurysms of the abdominal aorta (IAAA). 37 of the 89 patients had been examined preoperatively by CT. In 73% of the cases (27/37) a correct diagnosis had been made. Localisation, width and extent of the IAAA was correctly diagnosed in all patients. Involvement of the renal arteries by the inflammatory process, the extent of thrombus and of mural calcification were accurately shown. The inflammatory tissues were typically ventral and lateral to the aorta. Frequently, there were adhesions to neighbouring structures. Aortic rupture, aortic dissection and retroperitoneal lymphoma may produce similar CT appearances; nevertheless, CT remains at present the method of choice for the diagnosis of IAAA because of its high sensitivity.

  4. Transcatheter aortic valve replacement (TAVR): access planning and strategies.

    PubMed

    Ramlawi, Basel; Anaya-Ayala, Javier E; Reardon, Michael J

    2012-01-01

    Transcatheter aortic valve replacement (TAVR) has proven to be a viable tool for the high-surgical-risk population with severe aortic valve stenosis. Vascular access complications are not uncommon with TAVR and may increase early and late mortality. Avoiding these serious complications is the goal. With experience and careful screening, we are now able to risk-stratify patients who may be at increased risk of vascular complications. While the traditional iliofemoral access site remains the most common for TAVR, alternate access sites that have proven to be viable and safe alternatives include the transapical, direct-aortic, and subclavian techniques. TAVR teams should be familiar and comfortable with these approaches as each of them has its own advantages and weaknesses. The best option is usually one in which the procedure is tailored to the patient. The present review examines our current access planning and strategies for TAVR.

  5. Aortic dissection accompanied by preeclampsia in a postpartum young woman

    PubMed Central

    Park, Jin-Wan; Kim, Su-Mi; Yu, Gyu-Bong

    2016-01-01

    Aortic dissection is very rare in obstetrics, but it is a fatal disease. A 37-weeks primigravida woman with dyspnea and pitting edema presented to our emergency room. The patient was diagnosed with preeclampsia and underwent an emergency cesarean section under spinal anesthesia. The patient complained of severe dyspnea after the cesarean section, and the chest computed tomography scan was done. With the finding of aortic dissection, cardiopulmonary arrest occurred 5 hours after the cesarean section, and the patient died without reaction to cardio-pulmonary resuscitation. If a patient with preeclampsia complains of severe dyspnea or chest pain, aortic dissection needs to be suspected and a diagnosis should not be delayed. PMID:27668205

  6. Left main coronary artery obstruction by dislodged native-valve calculus after transcatheter aortic valve replacement.

    PubMed

    Durmaz, Tahir; Ayhan, Huseyin; Keles, Telat; Aslan, Abdullah Nabi; Erdogan, Kemal Esref; Sari, Cenk; Bilen, Emine; Akcay, Murat; Bozkurt, Engin

    2014-08-01

    Transcatheter aortic valve replacement can be an effective, reliable treatment for severe aortic stenosis in surgically high-risk or ineligible patients. However, various sequelae like coronary artery obstruction can occur, not only in the long term, but also immediately after the procedure. We present the case of a 78-year-old woman whose left main coronary artery became obstructed with calculus 2 hours after the transfemoral implantation of an Edwards Sapien XT aortic valve. Despite percutaneous coronary intervention in that artery, the patient died. This case reminds us that early recognition of acute coronary obstruction and prompt intervention are crucial in patients with aortic stenosis who have undergone transcatheter aortic valve replacement.

  7. Complex Reoperation for Late Complications After Acute Type A Aortic Dissection Surgery

    PubMed Central

    Stöger, Guillermo; Ríos, Matías; Battellini, Roberto; Bracco, Daniel; Kotowicz, Vadim

    2015-01-01

    The correct management of acute Type A dissection continues to be a challenge. The primary goal is to save the patient´s life. However, the decision regarding the surgical approach determines possible later complications. We present the case of a 59-year-old female patient with a past history of emergent surgery for acute Type A dissection treated by supracoronary ascending and aortic valve replacement 19 years previously. Later, in a second endovascular approach, the descending aorta was treated by a thoracic endoprosthesis. During follow-up a dilated aortic root and a Type I endoleak were observed, and complex reoperation was required. We performed a total aortic arch replacement with a 4-branched graft and a complete aortic root replacement using the Cabrol technique for the reinsertion of the coronary arteries. The mechanical aortic normally functioning valve was preserved. The patient was discharged 30 days postoperatively. PMID:27390749

  8. Reversed L-type Upper Partial Sternotomy in Aortic Valve Replacement: an Initial Experience

    PubMed Central

    Karic, Alen

    2016-01-01

    Introduction: Degenerative aortic stenosis (AS) is the most frequent cause among aortic valve stenotic changes. Mini Sternotomy Aortic Valve Replacement is a replacement of aortic valve through upper partial sternotomy. Aim: The aim of this approach is to improve postoperative convalescence by leaving pleural spaces closed and do not compromise respiratory function, to decrease bleeding, and reduce post op ventilation time and ICU stay. All these advantages decrease cost during hospital stay by reducing ICU stay, respiration time, bleeding and using blood products, pain killers and shortening hospital stay. Esthetic effect is also considerable result of this method. Case report: This case report presents an initial experience with Reversed L-Type Upper Partial Sternotomy in Aortic Valve Replacement. The goal is to demonstrate that minimally invasive advanced cardiac surgery procedures can be performed in our country. PMID:27594754

  9. Aortic root remodeling with the "cuff" technique for stentless valve implantation.

    PubMed

    Massetti, M; Bruno, P; Babatasi, G; Le Page, O; Neri, E; Veron, S; Saloux, E; Khayat, A

    2001-03-01

    Aortic root and sinotubular junction dilatation and aneurysm of ascending aorta are considered relative contra-indications to implantation of a stentless valve prosthesis, because the modified aortic geometry leads to aortic incompetence and early failure of the prosthesis. Aortic root reconstruction can be performed according to various techniques. We present a surgical technique in which a tubular graft, replacing an ascending aortic aneurysm, allows sinotubular remodeling and satisfactory implantation of a stentless prosthesis. The native aorta is inserted into the vascular prosthesis at the level of the sinotubular junction which is wrapped in order to prevent commissure spreading. Sizing of the vascular and valve prosthesis is made according to annular diameter. Since October 1999, 6 patients have been operated using this technique with good results.

  10. The 34,XY1,der(13) chromosome constitution with loss of Y2 is associated with unilateral testicular hypoplasia in the endangered Indian blackbuck antelope (Antilope cervicapra).

    PubMed

    Sontakke, S D; Kandukuri, L R; Umapathy, G; Kulashekaran, K M; Venkata, P O; Shivaji, S; Singh, L

    2012-01-01

    The present study is the first report of unilateral testicular hypoplasia in 3 of 15 (20%) Indian blackbuck antelopes (Antilope cervicapra). Interestingly, the condition was restricted to only the right testis in all cases. Cytogenetic analysis revealed chromosomal aneuploidy in the affected individuals which had a 34,XY(1),der(13) karyotype with loss of the acrocentric (autosomal) Y(2) and an aberrant chromosome 13. We further determined that the semen output and the circulating testosterone levels were markedly low in the males with hypoplastic testes as compared to fertile males.

  11. Single-Stage Repair of Thoracic Aortic Aneurysm through a Median Sternotomy in a Patient with Pseudocoarctation of the Aorta and Severe Aortic Valve Stenosis.

    PubMed

    Yamane, Yoshitaka; Morimoto, Hironobu; Mukai, Shogo

    2015-01-01

    Pseudocoarctation of the aorta is a rare anomaly and considered a benign condition. Pseudocoarctation of the aorta has been associated with aneurysm formation in the thoracic aorta, which may cause sudden rupture or dissection. Thus, the presence of an aneurysm in combination with pseudocoarctation of the aorta is thought to be an indication for surgery. We present a case of pseudocoarctation of the aorta associated with thoracic aortic aneurysm and severe aortic valve stenosis with a bicuspid aortic valve. In our case, single-stage repair was performed through a median sternotomy using our "pleural-window approach."

  12. [An inflammatory aortic aneurysm ruptured into the retroperitoneum and an extensive communication of the aneurysm with the vena cava inferior].

    PubMed

    Tovar Martín, E; Acea Nebril, B; Díaz Pardeiro, P

    1993-01-01

    Aortocaval fistula is a rare complication of abdominal aortic aneurysms that occurs with a frequency of 1% of operative cases or less. In this report we present a case of aortocaval fistula associated with ruptured and inflammatory aortic aneurysm that became apparent after evacuation of the thrombus. The inferior cava was ligated. We discuss the clinical syndrome and the management of patients with aortocaval fistula secondary to an abdominal aortic aneurysm and the results of surgical repair.

  13. Acute aortic dissection at two extreme ages.

    PubMed

    Ramzisham, A R M; Arief, H; Ngoo, K S; Zamrin, D M; Joanna, O S M

    2011-01-01

    Acute aortic dissection is a life-threatening condition, warranting prompt diagnosis and treatment. Management of which incorporates multidisciplinary expertise from the medical, surgical and intensive care. If left untreated, the mortality rate of acute aortic disease exceeds 50% within 48 hours and 80% within two weeks, with a 5-year survival rate of 19%. The most common cause of death in untreated acute aortic dissection, regardless of aetiology, is aortic rupture. We would like to share our successful experience of cases at the two extreme ages of acute aortic dissection. Literature review with their pathogenesis are discussed.

  14. MMP-2 Isoforms in Aortic Tissue and Serum of Patients with Ascending Aortic Aneurysms and Aortic Root Aneurysms

    PubMed Central

    Tscheuschler, Anke; Meffert, Philipp; Beyersdorf, Friedhelm; Heilmann, Claudia; Kocher, Nadja; Uffelmann, Xenia; Discher, Philipp; Siepe, Matthias; Kari, Fabian A.

    2016-01-01

    Objective The need for biological markers of aortic wall stress and risk of rupture or dissection of ascending aortic aneurysms is obvious. To date, wall stress cannot be related to a certain biological marker. We analyzed aortic tissue and serum for the presence of different MMP-2 isoforms to find a connection between serum and tissue MMP-2 and to evaluate the potential of different MMP-2 isoforms as markers of high wall stress. Methods Serum and aortic tissue from n = 24 patients and serum from n = 19 healthy controls was analyzed by ELISA and gelatin zymography. 24 patients had ascending aortic aneurysms, 10 of them also had aortic root aneurysms. Three patients had normally functioning valves, 12 had regurgitation alone, eight had regurgitation and stenosis and one had only stenosis. Patients had bicuspid and tricuspid aortic valves (9/15). Serum samples were taken preoperatively, and the aortic wall specimen collected during surgical aortic repair. Results Pro-MMP-2 was identified in all serum and tissue samples. Pro-MMP-2 was detected in all tissue and serum samples from patients with ascending aortic/aortic root aneurysms, irrespective of valve morphology or other clinical parameters and in serum from healthy controls. We also identified active MMP-2 in all tissue samples from patients with ascending aortic/aortic root aneurysms. None of the analyzed serum samples revealed signals relatable to active MMP-2. No correlation between aortic tissue total MMP-2 or tissue pro-MMP-2 or tissue active MMP-2 and serum MMP-2 was found and tissue MMP-2/pro-MMP-2/active MMP-2 did not correlate with aortic diameter. This evidence shows that pro-MMP-2 is the predominant MMP-2 species in serum of patients and healthy individuals and in aneurysmatic aortic tissue, irrespective of aortic valve configuration. Active MMP-2 species are either not released into systemic circulation or not detectable in serum. There is no reliable connection between aortic tissue—and serum MMP-2

  15. Percutaneous Implantation of the self-expanding valve Prosthesis a patient with homozygous familial hypercholesterolemia severe aortic stenosis and porcelain aorta.

    PubMed

    Sahiner, Levent; Asil, Serkan; Kaya, Ergün Baris; Ozer, Necla; Aytemir, Kudret

    2016-10-01

    Transcatheter aortic valve implantation (TAVI) has shown favorable outcomes in patients with severe symptomatic aortic valve stenosis who are at high surgical risk or inappropriate for open heart surgery. However, concerns exist over treating patients who have porcelain aorta and familial hypercholesterolemia, due to the potential complications of aortic root and aortic annulus. In this case report, we present a patient with familial hypercholesterolemia, symptomatic severe aortic stenosis, previous coronary artery bypass grafting and porcelain aorta, who was successfully treated with TAVI using a CoreValve.

  16. Long-Term Survival on Medical Therapy Alone after Blunt-Trauma Aortic Regurgitation: Report of a New Case with Summary of 95 Others

    PubMed Central

    Murata, Mitsushige; Mahara, Keitaro; Iwanaga, Shiro; Fukuda, Keiichi

    2016-01-01

    Aortic regurgitation resulting from blunt chest trauma has been reported only 95 times, to our knowledge. The noncoronary and right coronary cusps are the cardiac structures most often injured. Although the aortic leaflets can appear to be undamaged after nonpenetrating trauma, they can have pathologic abnormalities and insufficient function. Some cases of posttraumatic aortic regurgitation progress slowly. Aortic valve replacement is the optimal treatment. We present the case of a then-62-year-old man who has lived more than 5 years after blunt-trauma aortic regurgitation. His is the only case of long-term survival on medical therapy alone among the 96 cases summarized in this report. PMID:27777534

  17. Notch-dependent EMT is attenuated in patients with aortic aneurysm and bicuspid aortic valve.

    PubMed

    Kostina, Aleksandra S; Uspensky, Vladimir Е; Irtyuga, Olga B; Ignatieva, Elena V; Freylikhman, Olga; Gavriliuk, Natalia D; Moiseeva, Olga M; Zhuk, Sergey; Tomilin, Alexey; Kostareva, Аnna А; Malashicheva, Anna B

    2016-04-01

    Bicuspid aortic valve is the most common congenital heart malformation and the reasons for the aortopathies associated with bicuspid aortic valve remain unclear. NOTCH1 mutations are associated with bicuspid aortic valve and have been found in individuals with various left ventricular outflow tract abnormalities. Notch is a key signaling during cardiac valve formation that promotes the endothelial-to-mesenchymal transition. We address the role of Notch signaling in human aortic endothelial cells from patients with bicuspid aortic valve and aortic aneurysm. Aortic endothelial cells were isolated from tissue fragments of bicuspid aortic valve-associated thoracic aortic aneurysm patients and from healthy donors. Endothelial-to-mesenchymal transition was induced by activation of Notch signaling. Effectiveness of the transition was estimated by loss of endothelial and gain of mesenchymal markers by immunocytochemistry and qPCR. We show that aortic endothelial cells from the patients with aortic aneurysm and bicuspid aortic valve have down regulated Notch signaling and fail to activate Notch-dependent endothelial-to-mesenchymal transition in response to its stimulation by different Notch ligands. Our findings support the idea that bicuspid aortic valve and associated aortic aneurysm is associated with dysregulation of the entire Notch signaling pathway independently on the specific gene mutation.

  18. Genetic and Epigenetic Regulation of Aortic Aneurysms

    PubMed Central

    Kim, Ha Won

    2017-01-01

    Aneurysms are characterized by structural deterioration of the vascular wall leading to progressive dilatation and, potentially, rupture of the aorta. While aortic aneurysms often remain clinically silent, the morbidity and mortality associated with aneurysm expansion and rupture are considerable. Over 13,000 deaths annually in the United States are attributable to aortic aneurysm rupture with less than 1 in 3 persons with aortic aneurysm rupture surviving to surgical intervention. Environmental and epidemiologic risk factors including smoking, male gender, hypertension, older age, dyslipidemia, atherosclerosis, and family history are highly associated with abdominal aortic aneurysms, while heritable genetic mutations are commonly associated with aneurysms of the thoracic aorta. Similar to other forms of cardiovascular disease, family history, genetic variation, and heritable mutations modify the risk of aortic aneurysm formation and provide mechanistic insight into the pathogenesis of human aortic aneurysms. This review will examine the relationship between heritable genetic and epigenetic influences on thoracic and abdominal aortic aneurysm formation and rupture. PMID:28116311

  19. Aortic Wall Injury Related to Endovascular Therapy for Aortic Coarctation.

    PubMed

    Tretter, Justin T; Jones, Thomas K; McElhinney, Doff B

    2015-09-01

    Aortic wall complications can occur in unrepaired aortic coarctation (CoA) and after surgical repair or endovascular treatment. This review summarizes the available literature and current understanding of aortic wall injury (AWI) surrounding the management of CoA, focusing specifically on acute and follow-up AWI after endovascular treatment. There have been 23 reported cases of aortic rupture after endovascular treatment for CoA, including angioplasty alone, bare metal stenting, and primary covered stent therapy. Even if these published cases represent only a minority of ruptures that have actually occurred, the incidence is substantially <1%. The incidence of acute aneurysm formation was 0% to 13% after angioplasty, 0% to 5% after bare metal stent placement, and <1% after covered stent placement. The reported incidence and natural history of both acute and new AWI during follow-up after endovascular therapy for CoA varies considerably, likely secondary to ascertainment and reporting biases and inconsistent definitions. Although important AWI after endovascular treatment of CoA seems to be declining in frequency with increasing experience and improving technology, it remains one of the most important potential adverse outcomes. Long-term surveillance for new AWI and monitoring of existing AWI is mandatory, with institution of appropriate treatment when necessary. A central research focus in this population should be determination of the appropriate treatment for both native and recurrent CoA across various ages with regard to limiting recurrent CoA and preventing associated aortic wall complications, in addition to determining the appropriate treatment of various AWI. Consistent definitions and reporting are necessary to truly understand the incidence of, risk factors for, and measures protective against AWI after angioplasty or stent implantation for CoA.

  20. Adult aortic coarctation discovered incidentally after the rupture of sinus of Valsalva aneurysm: combined surgical and interventional approach.

    PubMed

    Ouali, Sana; Kortas, Chokri; Brockmeier, Konrad; Boughzela, Essia

    2011-12-01

    Combination of ruptured sinus of Valsalva aneurysm (SVA), and a coexisting asymptomatic adult aortic isthmic coarctation is extremely rare. The timing and sequence of surgical and/or interventional repair of these two pathologies are controversial. We present a case of a 37-year-old male who was admitted to our department because of severe acute congestive heart failure and signs of ruptured aneurysm of the SV into the right ventricle. Transthoracic and transoesophageal echocardiography confirmed the communication between an important right coronary SVA and right ventricle, bicuspid aortic valve, mild aortic regurgitation, and revealed severe aortic coarctation. Because of the severe dilation of right sinus of Valsalva a surgical repair of the ruptured aneurysm was performed. Aortic coarctation was treated four weeks later by a percutaneous stent-graft implantation. This case report supports the concept that hybrid approach is feasible in patients with ruptured SVA and aortic coarctation in adulthood.

  1. Simultaneous cusp-sparing aortic root replacement and coarctectomy with total arch replacement from the midline incision.

    PubMed

    Okita, Yutaka; Takanashi, Shuichiro; Fukumura, Yoshiaki

    2014-07-01

    Four cases of simultaneous surgery for aortic root aneurysm with aortic regurgitation and coarctation of the aorta were presented. Age at surgery ranged from 18 to 37 years and all were male. All had annuloaortic ectasia and dilatation of the ascending aorta, 3 had bicuspid aortic valve and 1 had acute localized aortic dissection. Preoperative grade of aortic regurgitation was trivial in 1, moderate in 2 and severe in 1. Three had aortic valve-sparing root replacement with reimplantation technique and 1 had plication of the sinotubular junction. All patients had total arch replacement, coarctectomy and orthogonal anastomosis to the descending aorta. Antegrade cerebral perfusion was used for brain protection. All patients survived and postoperative pressure difference between the upper and lower extremities disappeared. Postoperative aortogram was satisfactory.

  2. Extreme redundancy of the valve of the fossa ovalis with right heart hypoplasia in a neonate with trisomy 18.

    PubMed

    Vyas, Himeshkumar; Cabalka, Allison K

    2006-10-01

    Infants with trisomy 18 often have important cardiovascular malformations. We describe an infant with trisomy 18 who had extreme redundancy of the flap valve of the fossa ovalis along with right heart hypoplasia.

  3. Embryonic pathogenesis of hypogonadism and renal hypoplasia in hgn/hgn rats characterized by male sterility, reduced female fertility and progressive renal insufficiency.

    PubMed

    Suzuki, Hiroetsu; Yagi, Mio; Saito, Kenichi; Suzuki, Katsushi

    2007-03-01

    Congenital hypoplasia and dysplasia affect the postnatal development of organs, their physiological functioning in adulthood and the incidence of related diseases at an advanced age. Hypogonadic (hgn/hgn) rats are characterized by male sterility, reduced female fertility, progressive renal insufficiency and growth retardation, all controlled by a single recessive allele (hgn) located on chromosome 10. Since our previous studies indicated that the hypoplasia (dysplasia) of the affected organs was present at birth, we examined the embryonic pathogenesis. We mated hgn/hgn females to Brown Norway males and backcrossed F(1) males to hgn/hgn females. The resulting N(1) fetuses were genotyped using a hgn-linked microsatellite. Both sexes of hgn/hgn fetuses showed low body weight after embryonic day (ED) 15.5 and renal hypoplasia after ED 17.5. Their kidneys contained a reduced number of nephrons in a poorly formed nephrogenic zone and renal cortex. The hgn/hgn ovaries contained a small number of oogonia at ED 15.5 and oocytes after ED 17.5. Testicular growth defects were obvious after ED 17.5, and reduced numbers of Sertoli cells were detected at ED 19.5 and 21.5. The seminiferous cords in hgn/hgn testes contained more apoptotic and mitotic cells than those in +/hgn testes. These findings suggest that the phenotypes described in adult hgn/hgn rats result from embryonic hypogenesis, which continues to early postnatal stage and causes a reduction in functional tissues and cells. Since hgn/hgn rats have an insertion mutation in the microtubule-associated protein Spag5 gene, the embryonic hypogenesis described in hgn/hgn rats might result from defective cell proliferation.

  4. [Pseudomembranous colitis after surgery for a ruptured abdominal aortic aneurysm].

    PubMed

    Lozano Sánchez, F; Sánchez Fernández, J; Palacios, E; Fernández, M; Ingelmo Morin, A; Gómez Alonso, A

    1993-01-01

    We present a rare postoperative complication after surgical procedures for rupture of abdominal aortic aneurysms. The disease, a pseudomembranous colitis, was early recognized (by evidence of clostridium difficile after a coprocultive) and satisfactorily treated with vancomycin. From the literature review we found only a similar case but results were absolutely different from our case.

  5. Aortic intimal sarcoma: an unusual case with pulmonary vasculature involvement.

    PubMed

    Fitzmaurice, R J; McClure, J

    1990-11-01

    A disseminated intravascular tumour, presenting initially with splenic and small bowel infarction, caused both clinical and histological diagnostic difficulty. At subsequent autopsy the main tumour mass was identified within the aorta. Dissemination of this tumour was confirmed histologically and lectin and immunohistochemical staining performed. On the basis of the clinical and pathological features, we believe this represents a further case of aortic intimal sarcoma.

  6. Aortic coarctation, aneurysm, and ventricular dysfunction in an asymptomatic infant.

    PubMed

    García, Ana I; Aguilar, Juan M; García, Enrique

    2016-06-01

    Aortic arch coarctation with post-coarctation aneurysm is rare in infants. We present the case of an asymptomatic 3-month-old infant with severe left ventricular dysfunction in this setting. The patient underwent surgical repair, and the left ventricular ejection fraction improved to recovery the 4th post-operative month.

  7. Ruptured aortic valve cusp: a complication of the Heimlich maneuver.

    PubMed

    Chapman, J H; Menapace, F J; Howell, R R

    1983-07-01

    A case of traumatic rupture of the aortic valve as a complication of the Heimlich maneuver is presented. Conformation was made by comparative echocardiographic studies available from three months before and immediately following the incident. The patient refused surgical intervention and died one month later with severe congestive heart failure despite vigorous medical therapy.

  8. Case report of Streptomyces endocarditis of a prosthetic aortic valve.

    PubMed Central

    Mossad, S B; Tomford, J W; Stewart, R; Ratliff, N B; Hall, G S

    1995-01-01

    We describe the first case of prosthetic valve endocarditis due to a Streptomyces sp. The patient presented with fever, cutaneous embolic lesions, and bacteremia 3 months after aortic valve replacement. Treatment required valve replacement and a long course of parenteral imipenem. PMID:8586732

  9. Volumetric analysis of abdominal aortic aneurysm

    NASA Astrophysics Data System (ADS)

    Baskin, Kevin M.; Kusnick, Catherine A.; Shamsolkottabi, Susanne; Lang, Elvira V.; Corson, J. D.; Stanford, William; Thompson, Brad H.; Hoffman, Eric A.

    1996-04-01

    The purpose of this study was to develop a valid, reliable and accurate system of measurement of abdominal aortic aneurysms, using volumetric analysis of x-ray computed tomographic data. This study evaluates illustrative cases, and compares measurements of AAA phantoms, using standard 2D versus volumetric methods. To validate the volumetric analysis, four phantom aneurysms were constructed in a range of diameters (4.5 - 7.0 cm) which presents the greatest management challenge to the clinician. These phantoms were imaged using a Toshiba Xpress SX helical CT. Separate scans were obtained at conventional (10 mm X 10 mm) and thin slice (5 mm X 5 mm) collimations. The thin slices were reconstructed at 2 mm intervals. Data from each of the 96 scans were interpreted using a standard 2D approach, then analyzed using task-oriented volumetric software. We evaluate patient assessments, and compare greatest outer diameters of phantoms, by standard versus volumetric methods. Qualitative differences between solutions based on standard versus volumetric analysis of illustrative patient cases are substantial. Expert radiologists' standard measurements of phantom aneurysms are highly reliable (r2 equals 0.901 - 0.958; p < 0.001), but biased toward significant overestimation of aneurysm diameters in the range of clinical interest. For the same phantoms, volumetric analysis was both more reliable (r2 equals 0.986 - 0.996; p < 0.001), and more accurate, with no significant bias in the range of interest. Volumetric analysis promotes selection of more valid management strategies, by providing vital information not otherwise available, and allowing more reliable and accurate assessment of abdominal aortic aneurysms. It is particularly valuable in the presence of aortic tortuosity, vessel eccentricity, and uncertain involvement of critical vessels.

  10. [Aortic inflammatory lesions in Behçet's disease].

    PubMed

    Desbois, A-C; Wechsler, B; Cacoub, P; Saadoun, D

    2016-04-01

    The arterial lesions affect about 10% of patients with Behçet's disease (BD). Aortic inflammatory involvement includes predominantly aortic aneurysmal lesions affecting most often the abdominal aorta. They account for the severity of the disease and are a leading cause of death when they hit the aorta or pulmonary arteries. Within the arterial lesions of BD, aortic involvement is, with femoral lesions, the most common site involved (18-28% of patients with vascular disease). Unlike other large vessels vasculitis (i.e. giant cell arteritis and Takayasu's arteritis) diffuse aortitis is observed in less than 5% of patients with BD. Aortic lesions of BD may be asymptomatic (systematic imaging or occasionally associated with other vascular event) or be revealed by the occurrence of abdominal, thoracic or lumbar pain, or an aortic valve insufficiency. Fever is frequently associated. Increase in acute phase reactants is common in these patients. Histological analysis may show infiltration by lymphocytes, neutrophils and plasma cells in the media and adventitia and a proliferation of the vasa vasorum in the media as well as a fibroblastic proliferation. In the later phase, a fibrous thickening of the media and adventitia is observed as well as a proliferation and thickening of the vasa vasorum. The therapeutic management should always include a medical treatment for the control of inflammation (corticosteroids, immunosuppressive drugs and/or biotherapy) and often an endovascular or surgical treatment if the aneurysm is threatening. The choice between endovascular or surgical treatment is considered case by case, depending on the experience of the team, anatomical conditions and of the clinical presentation. In this review, we provide a detailed and updated review of the literature to describe the aortic inflammatory damage associated with Behçet's disease.

  11. Case Report and Review of Literature: Late Retrograde Type A Aortic Dissection With Rupture after Repair of Type B Aortic Dissection with a GORE TAG Endovascular Prosthesis.

    PubMed

    Manetta, Frank; Ajakaiye, Bayo; Scheinerman, S Jacob; Yu, Pey-Jen

    2014-06-01

    Acute aortic dissection is the most common catastrophic condition of the aorta. Treatment options include open surgery and thoracic endovascular aortic reconstruction (TEVAR). We present a late Type A dissection as a complication of the management of descending aortic dissections with TEVAR and a review of the literature. TEVAR of the thoracic aorta is a viable treatment option for the management of complicated descending thoracic aortic dissections. Careful patient selection is necessary as medical therapy successfully treats the majority of uncomplicated Type B dissections. TEVAR should be reserved for patients with complicated Type B dissections or those who fail nonoperative management. Close postoperative monitoring is necessary when TEVAR is performed and should be accompanied by lifelong surveillance. A high level of suspicion is important to identify retrograde Type A dissections in these patients given its rarity and the ambiguity of its clinical presentation.

  12. Aortic injuries in newer vehicles.

    PubMed

    Ryb, Gabriel E; Dischinger, Patricia C; Kleinberger, Michael; McGwin, Gerald; Griffin, Russell L

    2013-10-01

    The occurrence of AI was studied in relation to vehicle model year (MY) among front seat vehicular occupants, age≥16 in vehicles MY≥1994, entered in the National Automotive Sampling System Crashworthiness Data System between 1997 and 2010 to determine whether newer vehicles, due to their crashworthiness improvements, are linked to a lower risk of aortic injuries (AI). MY was categorized as 1994-1997, 1998-2004, or 2005-2010 reflecting the introduction of newer occupant protection technology. Logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals for the association between AI and MY independent of possible confounders. Analysis was repeated, stratified by frontal and near lateral impacts. AI occurred in 19,187 (0.06%) of the 31,221,007 (weighted) cases, and contributed to 11% of all deaths. AIs were associated with advanced age, male gender, high BMI, near-side impact, rollover, ejection, collision against a fixed object, high ΔV, vehicle mismatch, unrestrained status, and forward track position. Among frontal crashes, MY 98-04 and MY 05-10 showed increased adjusted odds of AI when compared to MY 94-97 [OR 1.84 (1.02-3.32) and 1.99 (0.93-4.26), respectively]. In contrast, among near-side impact crashes, MY 98-04 and MY 05-10 showed decreased adjusted odds of AI [OR 0.50 (0.25-0.99) and 0.27 (0.06-1.31), respectively]. While occupants of newer vehicles experience lower odds of AI in near side impact crashes, a higher AI risk is present in frontal crashes.

  13. Critical aortic stenosis and acute ascending aortic penetrating ulcer managed utilizing transapical TAVR and TEVAR.

    PubMed

    Allen, Keith B; Davis, J Russell; Cohen, David J

    2015-10-01

    Thoracic endovascular aortic repair (TEVAR) of acute ascending aortic pathology is feasible; however, the unique features of this aortic segment in addition to access challenges restricts its use to a select, high-risk subset of patients. With the advent of TAVR, large device delivery using transapical access has become a well-defined technique. We report a patient with critical aortic stenosis and an acute ascending aortic penetrating ulcer with tamponade managed successfully utilizing transapical TAVR and TEVAR. To our knowledge, this is the first reported case of a hybrid single-stage TAVR and ascending aortic TEVAR using transapical access.

  14. Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.

    PubMed

    Brockmann, Knut; Backes, Heiko; Auber, Bernd; Kriebel, Thomas; Stellmer, Franziska; Zoll, Barbara

    2009-12-01

    The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition.

  15. Regional hypoplasia of somatosensory cortex in growth-retarded mice (grt/grt).

    PubMed

    Sawada, Kazuhiko; Saito, Shigeyoshi; Sugasawa, Akari; Sato, Chika; Aoyama, Junya; Ohara, Naoko; Horiuchi-Hirose, Miwa; Kobayashi, Tetsuya

    2016-07-01

    Growth-retarded mouse (grt/grt) is a spontaneous mutant that is known as an animal model for primary congenital hypothyroidism caused by resistance to TSH signaling. The regional pattern of cerebral cortical hypoplasia was characterized in grt/grt mice. Ex vivo computed tomography (CT)-based volumetry was examined in four regions of the cerebral cortex, i.e., prefrontal, frontal, parietal and occipito-temporal regions, which were demarcated by structural landmarks on coronal CT images. A region-specific reduced volume of the parietal cortical region covering most of the somatosensory cortex was noted in grt/grt mice rather than in both heterozygous (grt/+) and wild-type (+/+) mice. We concluded that the cortical hypoplasia in grt/grt was seen in identical cortical regions corresponding to human congenital hypothyroidism.

  16. Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.

    PubMed

    Yano, S; Oda, K; Watanabe, Y; Watanabe, S; Matsuishi, T; Kojima, K; Abe, T; Kato, H

    1998-08-06

    Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosa-like pigmented retinal lesions, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventricle; severe mental retardation; tremor; brisk deep tendon reflexes and abnormal behavior; and skeletal abnormalities such as limited extension of elbow and/ or finger joints and talipes equinovalgus. Skin defect and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct clinical entity.

  17. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome

    PubMed Central

    Hoveyda, N.; Shield, J.; Garrett, C.; Chong, W; Beardsall, K.; Bentsi-Enchill, E.; Mallya, H.; Thompson, M.

    1999-01-01

    Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypoplasia/agenesis, and dysmorphism occurring within a highly consanguineous family. This constellation of abnormalities has not previously been described. Two of these cases are sisters and the third case is a female first cousin. The pattern of inheritance suggests this is a previously undescribed autosomal recessive disorder. Prenatal diagnosis of the condition in this family was possible by demonstration of the absence of the cerebellum and severe IUGR.


Keywords: cerebellar agenesis/hypoplasia; neonatal diabetes mellitus; dysmorphic features; autosomal recessive PMID:10507728

  18. Multivectorial, external halo-assisted midface distraction in patients with severe hypoplasia.

    PubMed

    Malagon, Hector Hidalgo; Romo, Gabriela Wong; Quintero Mosqueda, Francisco Rafael; Magaña, Fernando Gonzalez

    2008-11-01

    Osteogenesis distraction is an increasingly used technique for the correction of facial deformities because it offers a faster and more controlled growth of the hypoplasic bone along with the elongation of the soft tissues. In this article, we describe the technique and our experience in midface distraction using an external multivectoral distraction device (BLUE Device; W. Lorenz, Jacksonville, FL) and custom-made midface osteotomies for the correction of severe hypoplasia.

  19. Alaninuria, Associated with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus in Two Sisters

    PubMed Central

    Stimmler, L.; Jensen, N.; Toseland, P.

    1970-01-01

    Two sisters, both microcephalic at birth and of low birthweight, are described. They are both severely mentally retarded and dwarfed, and have developed diabetes mellitus. Their teeth show enamel hypoplasia. Excessive quantities of alanine were found in their urine, which was associated with high levels of alanine pyruvate and lactate in the blood. ImagesFIG. 1FIG. 2FIG. 3aFIG. 3b PMID:5477682

  20. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.

    PubMed

    Young, Marielle P; Sawyer, Briana L; Hartnett, M Elizabeth

    2014-04-01

    Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton, teeth, central nervous system, and eyes of affected patients. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.

  1. [Unilateral pulmonary artery agenesis with ipsilateral pulmonary hypoplasia as incidental finding in an asthmatic patient].

    PubMed

    Contreras-Arias, Catalina; Duarte, Diana; Ramírez, Luis F; Serrano, Carlos D

    2014-01-01

    Unilateral absence of a pulmonary artery is an uncommon congenital heart disease. It can be related to respiratory symptoms such as asthma, an unusual finding in some of these patients. This paper reports the case of a 4-year-old male with recurrent respiratory infections and asthma symptoms, in who further studies found agenesia of right pulmonary artery with pulmonary hypoplasia of the same side.

  2. The emerging epidemic of methamphetamine-induced aortic dissections.

    PubMed

    Wako, Elizabeth; LeDoux, Denise; Mitsumori, Lee; Aldea, Gabriel S

    2007-01-01

    The clinical presentation, treatment, and outcomes of six consecutive patients presenting with acute aortic dissection secondary to hypertensive crises from methamphetamine use is described. Data were obtained prospectively from the expanded STS clinical database of the division of cardiothoracic surgery at the University of Washington, but reviewed in a retrospective fashion. These patients represent 5.5% of all patients diagnosed and treated for aortic dissection in the same time period (6/109) and 20% of all patients with aortic dissection under the age of 50 years (6/30). We conclude that young patients (presenting with acute aortic dissections should be routinely tested for methamphetamine. Positive urine tests should be confirmed with chromatography-mass spectrometry (GC-MS). Beta and alpha blockers should be used instead of the more typical beta blockade alone. We recommend the addition and documentation of intense, long-term drug rehabilitation program along with routine periodic clinical and radiographic follow-up to prevent secondary aneurysmal dilation of remaining pathological aorta.

  3. Effects of ethnicity and birth month on localized enamel hypoplasia of the primary canine.

    PubMed

    Skinner, M F; Hadaway, W; Dickie, J

    1994-01-01

    Localized enamel hypoplasia of the primary canine (LHPC) is produced by a different mechanism from that causing linear enamel hypoplasia, and yet contributes disproportionately to epidemiological studies of enamel hypoplasia in childhood that do not separate the two etiological types. LHPC results from impact, probably self-inflicted by infants mouthing objects, to the unerupted primary canine crown through abnormally fenestrated cortical bone overlying the crypt. Examination of the primary teeth of ninety-six children whose mothers were enrolled in the Healthiest Babies Possible Program in Vancouver showed an average prevalence of 31 percent with LHPC (ranging from 19 percent in Vietnamese Canadians to 56 percent among Indocanadians). This is much higher than previously reported for unselected samples from Vancouver, but equivalent to studies in the USA. Mean hours of sunshine in the birth month of children with LHPC is 141.7 hours and those without is 169.4 hours; the difference is statistically significant (p = .0383). Seasonal increase in food costs and reduced availability of fresh foods containing vitamin A are thought to contribute to facial osteopenia predisposing the infant to LHPC.

  4. Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia.

    PubMed

    Poncelet, Luc; Héraud, Céline; Springinsfeld, Marie; Ando, Kunie; Kabova, Anna; Beineke, Andreas; Peeters, Dominique; Op De Beeck, Anne; Brion, Jean-Pierre

    2013-06-01

    Parvoviruses depend on initiation of host cell division for their replication. Undefined parvoviral proteins have been detected in Purkinje cells of the cerebellum after experimental feline panleukopenia virus (FPV) infection of neonatal kittens and in naturally occurring cases of feline cerebellar hypoplasia. In this study, a parvoviral protein in the nucleus of Purkinje cells of kittens with cerebellar hypoplasia was shown by immunoprecipitation to be the FPV viral capsid protein VP2. In PCR-confirmed, FPV-associated feline cerebellar hypoplasia, expression of the FPV VP2 protein was demonstrated by immunohistochemistry in Purkinje cell nuclei in 4/10 cases and expression of the FPV non-structural protein NS1 was demonstrated in Purkinje cell nuclei in 5/10 cases. Increased nuclear ERK1 expression was observed in several Purkinje cells in 1/10 kittens. No expression of the G1 and S mitotic phase marker proliferating cell nuclear antigen (PCNA) was evident in Purkinje cell nuclei. These results support the hypothesis that FPV is able to proceed far into its replication cycle in post-mitotic Purkinje cells.

  5. Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia.

    PubMed

    Caesar, R E; Packer, M G; Kaplan, G W; Dudell, G G; Guerrant, A L; Griswold, W R; Lemire, J M; Mendoza, S A; Reznik, V M

    1995-11-01

    Extracorporeal membrane oxygenation (ECMO) is an effective treatment modality for the newborn with refractory hypoxemia. Oligohydramnios can be associated with congenital renal disease (CRD) and can result in respiratory insufficiency from pulmonary hypoplasia, delayed lung maturation, and persistent pulmonary hypertension of the newborn. In this retrospective study, the authors reviewed the outcome of four children with CRD who required ECMO in the neonatal period. Between October 1987 and December 1995, ECMO was used in four newborns with CRD and pulmonary hypoplasia unresponsive to maximal medical management. The causes of CRD were urinary obstruction (2), renal dysplasia (1), and vesicoureteral reflux (1). Neonatal survivors of ECMO with CRD had regular follow-up with a nephrologist, urologist, and pediatrician. Developmental history, assessment of renal function, and a nutritional evaluation were recorded on each visit. The follow-up period ranged from 6 months to 5 years. All patients with CRD were successfully weaned from ECMO. One child died, at 1 month of age, because of renal failure. The estimated glomerular filtration rates in the three survivors were 20, 24, and 60 mL/min/1.73 m2. Growth and development have been delayed in two patients. Based on the author's experience, ECMO may improve the survival of neonates with pulmonary hypoplasia and CRD. Factors associated with successful long-term outcome include (1) renal disease amenable to surgical correction, (2) aggressive nutritional support, and (3) a reliable social support system.

  6. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

    PubMed

    Rocas, Delphine; Alix, Eudeline; Michel, Jessica; Cordier, Marie-Pierre; Labalme, Audrey; Guilbert, Hélène; Till, Marianne; Schluth-Bolard, Caroline; de Haas, Pascale; Massardier, Jérôme; Portes, Vincent des; Edery, Patrick; Touraine, Renaud; Guibaud, Laurent; Vasiljevic, Alexandre; Sanlaville, Damien

    2013-05-01

    We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus.

  7. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    PubMed

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  8. Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia.

    PubMed

    Fyfe, John C; Al-Tamimi, Raba' A; Castellani, Rudy J; Rosenstein, Diana; Goldowitz, Daniel; Henthorn, Paula S

    2010-09-15

    Neuroaxonal dystrophy in brainstem, spinal cord tracts, and spinal nerves accompanied by cerebellar hypoplasia was observed in a colony of laboratory dogs. Fetal akinesia was documented by ultrasonographic examination. At birth, affected puppies exhibited stereotypical positioning of limbs, scoliosis, arthrogryposis, pulmonary hypoplasia, and respiratory failure. Regional hypoplasia in the central nervous system was apparent grossly, most strikingly as underdeveloped cerebellum and spinal cord. Histopathologic abnormalities included swollen axons and spheroids in brainstem and spinal cord tracts; reduced cerebellar foliation, patchy loss of Purkinje cells, multifocal thinning of the external granular cell layer, and loss of neurons in the deep cerebellar nuclei; spheroids and loss of myelinated axons in spinal roots and peripheral nerves; increased myocyte apoptosis in skeletal muscle; and fibrofatty connective tissue proliferation around joints. Breeding studies demonstrated that the canine disorder is a fully penetrant, simple autosomal recessive trait. The disorder demonstrated a type and distribution of lesions homologous to that of human infantile neuroaxonal dystrophy (INAD), most commonly caused by mutations of phospholipase A2 group VI gene (PLA2G6), but alleles of informative markers flanking the canine PLA2G6 locus did not associate with the canine disorder. Thus, fetal-onset neuroaxonal dystrophy in dogs, a species with well-developed genome mapping resources, provides a unique opportunity for additional disease gene discovery and understanding of this pathology.

  9. Aortic atresia and tricuspid atresia occurring in complete transposition of the great vessels.

    PubMed

    Butto, F; Margraf, L; Smith, G; Najmabadi, H

    1993-03-01

    A unique case of aortic atresia and tricuspid atresia associated with transposition of the great vessels is described in a newborn infant. The clinical, echocardiographic, and heart catheterization data are presented. The embryological and surgical implications are discussed.

  10. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

    PubMed

    Parry, David A; Logan, Clare V; Stegmann, Alexander P A; Abdelhamed, Zakia A; Calder, Alistair; Khan, Shabana; Bonthron, David T; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E; Dobbie, Angus; Stumpel, Constance T R M; Johnson, Colin A

    2013-12-05

    Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives.

  11. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.

    PubMed

    Milewicz, Dianna M; Regalado, Ellen S; Shendure, Jay; Nickerson, Deborah A; Guo, Dong-chuan

    2014-02-01

    Thoracic aortic aneurysms involving the aortic root and/or ascending aorta can lead to acute aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and dissections (TAAD) have a family history of the disease, referred to as familial TAAD (FTAAD) that can be inherited in an autosomal dominant manner with variable expression with respect to disease presentation, age of onset and associated features. Whole exome sequencing (WES) has been used to identify causative mutations in novel genes for TAAD. The strategy used to reduce the large number of rare variants identified using WES is to sequence distant relatives with TAAD and filter for heterozygous rare variants that are shared between the relatives, predicted to disrupt protein function and segregate with the TAAD phenotype in other family members. Putative genes are validated by identifying additional families with a causative mutation in the genes. This approach has successfully identified novel genes for FTAAD.

  12. Successes and Challenges of Using Whole Exome Sequencing to Identify Novel Genes Underlying an Inherited Predisposition for Thoracic Aortic Aneurysms and Acute Aortic Dissections

    PubMed Central

    Milewicz, Dianna M.; Regalado, Ellen; Shendure, Jay; Nickerson, Deborah A.; Guo, Dongchuan

    2013-01-01

    Thoracic aortic aneurysms involving the aortic root and/or ascending aorta can lead to acute aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and dissections (TAAD) have a family history of the disease, referred to as familial TAAD (FTAAD), which can be inherited in an autosomal dominant manner with variable expression with respect to disease presentation, age of onset and associated features. Whole exome sequencing (WES) has been used to identify causative mutations in novel genes for TAAD. The strategy used to reduce the large number of rare variants identified using WES is to sequence distant relatives with TAAD and filter for heterozygous rare variants that are shared between the relatives, predicted to disrupt protein function and segregate with the TAAD phenotype in other family members. Further validation of putative genes by sequencing of additional families with TAAD has successfully identified novel genes for FTAAD. PMID:23953976

  13. A mathematical model of aortic aneurysm formation

    PubMed Central

    Hao, Wenrui; Gong, Shihua; Wu, Shuonan; Xu, Jinchao; Go, Michael R.; Friedman, Avner; Zhu, Dai

    2017-01-01

    Abdominal aortic aneurysm (AAA) is a localized enlargement of the abdominal aorta, such that the diameter exceeds 3 cm. The natural history of AAA is progressive growth leading to rupture, an event that carries up to 90% risk of mortality. Hence there is a need to predict the growth of the diameter of the aorta based on the diameter of a patient’s aneurysm at initial screening and aided by non-invasive biomarkers. IL-6 is overexpressed in AAA and was suggested as a prognostic marker for the risk in AAA. The present paper develops a mathematical model which relates the growth of the abdominal aorta to the serum concentration of IL-6. Given the initial diameter of the aorta and the serum concentration of IL-6, the model predicts the growth of the diameter at subsequent times. Such a prediction can provide guidance to how closely the patient’s abdominal aorta should be monitored. The mathematical model is represented by a system of partial differential equations taking place in the aortic wall, where the media is assumed to have the constituency of an hyperelastic material. PMID:28212412

  14. A mathematical model of aortic aneurysm formation.

    PubMed

    Hao, Wenrui; Gong, Shihua; Wu, Shuonan; Xu, Jinchao; Go, Michael R; Friedman, Avner; Zhu, Dai

    2017-01-01

    Abdominal aortic aneurysm (AAA) is a localized enlargement of the abdominal aorta, such that the diameter exceeds 3 cm. The natural history of AAA is progressive growth leading to rupture, an event that carries up to 90% risk of mortality. Hence there is a need to predict the growth of the diameter of the aorta based on the diameter of a patient's aneurysm at initial screening and aided by non-invasive biomarkers. IL-6 is overexpressed in AAA and was suggested as a prognostic marker for the risk in AAA. The present paper develops a mathematical model which relates the growth of the abdominal aorta to the serum concentration of IL-6. Given the initial diameter of the aorta and the serum concentration of IL-6, the model predicts the growth of the diameter at subsequent times. Such a prediction can provide guidance to how closely the patient's abdominal aorta should be monitored. The mathematical model is represented by a system of partial differential equations taking place in the aortic wall, where the media is assumed to have the constituency of an hyperelastic material.

  15. Biomechanical Evaluation of Ascending Aortic Aneurysms

    PubMed Central

    Avanzini, Andrea; Battini, Davide

    2014-01-01

    The biomechanical properties of ascending aortic aneurysms were investigated only in the last decade in a limited number of studies. Indeed, in recent years, there has been a growing interest in this field in order to identify new predictive parameters of risk of dissection, which may have clinical relevance. The researches performed so far have been conducted according to the methods used in the study of abdominal aortic aneurysms. In most cases, uniaxial or biaxial tensile tests were used, while in a smaller number of studies other methods, such as opening angle, bulge inflation, and inflation-extension tests, were used. However, parameters and protocols of these tests are at present very heterogeneous in the studies reported in the literature, and, therefore, the results are not comparable and are sometimes conflicting. The purpose of this review then thence to provide a comprehensive analysis of the experimental methodology for determination of biomechanical properties in the specific field of aneurysms of the ascending aorta to allow for better comparison and understanding of the results. PMID:24991568

  16. Extensive Erosion of Vertebral Bodies Due to a Chronic Contained Ruptured Abdominal Aortic Aneurysm

    PubMed Central

    Lombardi, Alecio Fernando; Cardoso, Fabiano Nassar; da Rocha Fernandes, Artur

    2016-01-01

    This report describes a case of chronically ruptured abdominal aortic aneurysm contained within the lumbar vertebral bodies that presented with dull abdominal pain. Sudden, massive hemorrhage is an uncommon, yet well-known complication of an untreated abdominal aortic aneurysm. In addition, misleading clinical and radiological findings present difficult diagnostic challenges in such cases. This report emphasizes the findings obtained with multidetector computed tomography and delineates the differentiation of this condition from similar pathologies. PMID:27200153

  17. Familial aortic coarctation: a rare cause of refractory hypertension in the elderly: a case report.

    PubMed

    Lara-Rojas, Carmen M; Bernal-Lopez, M Rosa; Lopez-Carmona, M Dolores; Gomez-Huelgas, Ricardo

    2015-01-01

    We report the first case of late presentation of familial aortic coarctation, a rare cause of hypertension. Diagnosis of familial aortic coarctation in the elderly is exceptional, given that in the absence of endovascular or surgical repair patients do not usually survive beyond 50 years of age. Our case concerns a 72-year-old woman with hypertension of long evolution, control of which improved markedly after endovascular repair of the coarctation. Her son had undergone surgery for repair of aortic coarctation at the age of 23 years.

  18. Aortic Coarctation Diagnosed During Pregnancy in a Woman With Repaired Tetralogy of Fallot.

    PubMed

    Jalal, Zakaria; Iriart, Xavier; Thambo, Jean-Benoit

    2015-09-01

    Aortic coarctation is thought to be a rare condition in patients with tetralogy of Fallot. We report the case of a 26 year old woman presenting with systemic hypertension at 17 weeks of pregnancy after repair of tetralogy of Fallot in childhood. Echocardiography and magnetic resonance imaging revealed right aortic arch with severe isthmic coarctation. Her blood pressure was controlled medically during the rest of her pregnancy, and delivery was uneventful. Successful transcatheter placement of a covered stent at the level of the coarctation was performed after delivery. To our knowledge, this is the first reported case of aortic coarctation diagnosed in an adult patient late after repair of tetralogy of Fallot.

  19. Spontaneous bilateral carotid artery dissection in a patient with bovine aortic arch.

    PubMed

    Cock, Dries De; Meuris, Bart; Benett, Johan; Desmet, Walter

    2014-08-01

    Carotid artery dissections are commonly associated with trauma or various connective tissue disorders. Dissection of the cerebrovascular arteries can result in ischemic stroke and is a frequent stroke etiology in younger patients. Anatomical variants of aortic arch branching, such as the 'bovine' aortic arch, are assumed to have little or no physiological consequence. To the best of our knowledge, we present for the first time a case of spontaneous dissection of the common origin of the innominate and left common carotid artery in a bovine aortic arch, resulting in bilateral dissection of the carotid arteries.

  20. Contained rupture of a mycotic infrarenal aortic aneurysm infected with Campylobacter fetus

    PubMed Central

    Dimitrief, Maria; Déglise, Sébastien; Pezzetta, Edgardo

    2016-01-01

    Mycotic abdominal aortic aneurysms (MAAAs) are rare entities accounting for 0.65–2% of aortic aneurysms. Campylobacter fetus has a tropism for vascular tissue and is a rare cause of mycotic aneurysm. We present a 73-year-old male patient with contained rupture of a MAAA caused by C. fetus, successfully treated with endovascular aortic repair (EVAR) and antibiotics, which is not previously described for this aetiology. Although open surgery is the gold standard, EVAR is nowadays feasible and potentially represents a durable option, especially in frail patients. PMID:27852656

  1. Respecting Symptoms in Thoracic Aortic Aneurysm Management: A Case of Symptomatic Necrotizing Granulomatous Aortitis

    PubMed Central

    Kuzmik, Gregory A.; Sang, Adam X.; Cai, Guoping; Tranquilli, Maryann; Elefteriades, John A.

    2012-01-01

    A 41-year-old woman presented with chest pain of unclear etiology in the setting of a mildly dilated ascending aorta. Computed tomography angiography showed an aorta with an irregular contour and an aneurysm of 4.5 cm. There was no radiographic evidence of rupture or dissection. The patient was taken to the operating room and was found to have severe aortitis with marked localized wall thinning at imminent risk of aortic rupture. Aortic pathology demonstrated necrotizing granulomas of noninfectious etiology. This case illustrates the importance of respecting symptoms in surgical decision making for thoracic aortic aneurysms that may not meet standard interventional criteria. PMID:23997559

  2. Rare Complication of non-Treated Abdominal Aortic Aneurysm: Extensive Thrombus in Right Cardiac Chambers

    PubMed Central

    Hotta, Viviane Tiemi; Bluemke, David A.; Staszko, Kamila Fernanda; Pereira, Ana Neri Rodrigues Epitacio; Rochitte, Carlos Eduardo

    2016-01-01

    A 78-year-old patient presented with shortness of breath after falling down. Transthoracic echocardiogram showed an extensive thrombus in the right atrium (RA), extensive thrombosis of the inferior vena cava (IVC), and abdominal aortic aneurysm (AAA). A magnetic resonance confirmed the thrombosis of the RA extending to the IVC, which was apparently fused to the abdominal aortic aneurysm (compression? erosion?). This case illustrates a severe and rare complication of a non-treated AAA. There probably was IVC erosion by the aortic aneurysm, leading to blood stasis and extensive thrombosis of the IVC and right cardiac chambers. PMID:27849260

  3. Extended replacement of a calcified ascending aorta in adulthood sporadic, diffuse type, supravalvular aortic stenosis.

    PubMed

    Borghetti, Valentino; D'Addario, Giancarlo; Bravi, Ilaria; Pardinia, Alessandro

    2011-08-01

    The diffuse variant of supravalvular aortic stenosis (SVAS) is one of the most rare congenital vascular pathological conditions of adulthood. Due to its rarity, surgical treatment of this clinical entity is still a matter of debate because of the variable degree of aortic narrowing, presence of multilevel obstruction, and age at presentation, all factors that strongly influence the disease prognosis. We report a case of an adult patient with an extremely calcified diffuse SVAS who underwent successful replacement of the ascending aorta through the interposition of a tubular prosthesis. Six months' follow-up showed complete relief of the aortic gradient and an improvement in clinical performance.

  4. Aortic Stenosis: Pathophysiology, Diagnosis, and Therapy.

    PubMed

    Joseph, Jessica; Naqvi, Syed Yaseen; Giri, Jay; Goldberg, Sheldon

    2017-03-01

    The incidence of aortic stenosis increases with age, affecting up to 10% of the population by the eighth decade. Once symptoms develop, aortic stenosis is rapidly fatal. Proper management requires an understanding of the physiology and criteria used to define disease severity. There is no effective pharmacologic treatment. Surgical aortic valve replacement has been the gold standard treatment for decades. However, over the last 10 years transcatheter aortic valve replacement has emerged as an attractive, less-invasive option for appropriately selected patients. Refinements in valve design and delivery systems have led to widespread use of this breakthrough technology in selected patients. We review the pathophysiology, criteria for valve replacement, and the results of the trials comparing transcatheter aortic valve replacement with surgical aortic valve replacement.

  5. Histology of a Marfan aorta 4.5 years after personalized external aortic root support.

    PubMed

    Pepper, John; Goddard, Martin; Mohiaddin, Raad; Treasure, Tom

    2015-09-01

    In 2008, a 26-year old man had personalized external aortic root support (PEARS) with a macroporous mesh. He was the 16th of 46 patients to have this operation. He had a typical Marfan habitus. His mother died of this disease as did his brother, with an aortic dissection. The patient himself died suddenly 4.5 years after his PEARS operation. At autopsy, there was no blood in the pericardium. The coronary orifices and proximal arteries were normal. His bicuspid aortic valve was minimally regurgitant as it was prior to operation and remained throughout follow-up. Macroscopically the implanted mesh was embedded in the adventitia and not separable from the aortic wall. Microscopically it was fully incorporated with collagen fibres as has been seen in our animal studies. The unsupported aortic arch showed some focal fragmentation of elastic fibres and a mild increase in mucopolysaccharides consistent with Marfan syndrome. These appearances were not present in the supported aortic root, which had the histological appearance of a normal aorta. He was the first patient to die with an implant. The histological appearances suggest the possibility that the incorporated support of the aortic root allowed recovery of the microstructure of the media.

  6. Study of Aortic Valve Sclerosis as A Marker of Atherosclerosis in Acute Coronary Syndromes

    PubMed Central

    Picardo, Preeti Jane; Khariong, Peter Daniel S; Hajong, Debobratta; Naku, Narang; Anand, Madhur; Sharma, Girish; Singh, K Lenish

    2016-01-01

    Introduction Aortic valve sclerosis has been shown to be associated with increased incidence, chances of developing myocardial infarction and even death. The epidemiological risk factors causing calcification of aortic valves have also been found to cause atherosclerosis. Aim To analyse the epidemiological risk factors causing aortic valve sclerosis which have been studied in details and analysed to see whether they cause any significant increase in the incidence of cardiovascular events. Materials and Methods This prospective case-control study was conducted between 1st Jan 2015 to 31st Dec 2015 in NEIGRIHMS hospital and data for age, gender, socioeconomic status, hypertension, diabetes, tobacco use, Body Mass Iindex (BMI), cholesterol levels, Electrocardiography (ECG) changes and Ejection Fraction (EF) were collected and analysed by using SPSS software version 22. Results Hypertension, diabetes, weight, BMI, hyperglycaemia and hyperlipidemia were not found to be significantly associated with aortic valve sclerosis in patients presenting with acute coronary syndromes. The presence of aortic valve sclerosis was also not associated with increased risk of cardiovascular mortality and morbidity. Conclusion The risk factors for atherosclerosis were found to be associated with the presence of aortic valve sclerosis more in the control group and hence finding of a sclerosed aortic valve in the apparent normal population might identify those persons at increased risk of developing coronary artery disease and appropriate preventive measures should be taken before the disease sets in. PMID:28208902

  7. Phenotypic and Functional Changes of Endothelial and Smooth Muscle Cells in Thoracic Aortic Aneurysms

    PubMed Central

    Malashicheva, Anna; Kostina, Daria; Kostina, Aleksandra; Irtyuga, Olga; Voronkina, Irina; Smagina, Larisa; Ignatieva, Elena; Gavriliuk, Natalia; Uspensky, Vladimir; Moiseeva, Olga; Vaage, Jarle; Kostareva, Anna

    2016-01-01

    Thoracic aortic aneurysm develops as a result of complex series of events that alter the cellular structure and the composition of the extracellular matrix of the aortic wall. The purpose of the present work was to study the cellular functions of endothelial and smooth muscle cells from the patients with aneurysms of the thoracic aorta. We studied endothelial and smooth muscle cells from aneurysms in patients with bicuspid aortic valve and with tricuspid aortic valve. The expression of key markers of endothelial (CD31, vWF, and VE-cadherin) and smooth muscle (SMA, SM22α, calponin, and vimentin) cells as well extracellular matrix and MMP activity was studied as well as and apoptosis and cell proliferation. Expression of functional markers of endothelial and smooth muscle cells was reduced in patient cells. Cellular proliferation, migration, and synthesis of extracellular matrix proteins are attenuated in the cells of the patients. We show for the first time that aortic endothelial cell phenotype is changed in the thoracic aortic aneurysms compared to normal aortic wall. In conclusion both endothelial and smooth muscle cells from aneurysms of the ascending aorta have downregulated specific cellular markers and altered functional properties, such as growth rate, apoptosis induction, and extracellular matrix synthesis. PMID:26904289

  8. Phenotypic and Functional Changes of Endothelial and Smooth Muscle Cells in Thoracic Aortic Aneurysms.

    PubMed

    Malashicheva, Anna; Kostina, Daria; Kostina, Aleksandra; Irtyuga, Olga; Voronkina, Irina; Smagina, Larisa; Ignatieva, Elena; Gavriliuk, Natalia; Uspensky, Vladimir; Moiseeva, Olga; Vaage, Jarle; Kostareva, Anna

    2016-01-01

    Thoracic aortic aneurysm develops as a result of complex series of events that alter the cellular structure and the composition of the extracellular matrix of the aortic wall. The purpose of the present work was to study the cellular functions of endothelial and smooth muscle cells from the patients with aneurysms of the thoracic aorta. We studied endothelial and smooth muscle cells from aneurysms in patients with bicuspid aortic valve and with tricuspid aortic valve. The expression of key markers of endothelial (CD31, vWF, and VE-cadherin) and smooth muscle (SMA, SM22α, calponin, and vimentin) cells as well extracellular matrix and MMP activity was studied as well as and apoptosis and cell proliferation. Expression of functional markers of endothelial and smooth muscle cells was reduced in patient cells. Cellular proliferation, migration, and synthesis of extracellular matrix proteins are attenuated in the cells of the patients. We show for the first time that aortic endothelial cell phenotype is changed in the thoracic aortic aneurysms compared to normal aortic wall. In conclusion both endothelial and smooth muscle cells from aneurysms of the ascending aorta have downregulated specific cellular markers and altered functional properties, such as growth rate, apoptosis induction, and extracellular matrix synthesis.

  9. Histology of a Marfan aorta 4.5 years after personalized external aortic root support

    PubMed Central

    Pepper, John; Goddard, Martin; Mohiaddin, Raad; Treasure, Tom

    2015-01-01

    In 2008, a 26-year old man had personalized external aortic root support (PEARS) with a macroporous mesh. He was the 16th of 46 patients to have this operation. He had a typical Marfan habitus. His mother died of this disease as did his brother, with an aortic dissection. The patient himself died suddenly 4.5 years after his PEARS operation. At autopsy, there was no blood in the pericardium. The coronary orifices and proximal arteries were normal. His bicuspid aortic valve was minimally regurgitant as it was prior to operation and remained throughout follow-up. Macroscopically the implanted mesh was embedded in the adventitia and not separable from the aortic wall. Microscopically it was fully incorporated with collagen fibres as has been seen in our animal studies. The unsupported aortic arch showed some focal fragmentation of elastic fibres and a mild increase in mucopolysaccharides consistent with Marfan syndrome. These appearances were not present in the supported aortic root, which had the histological appearance of a normal aorta. He was the first patient to die with an implant. The histological appearances suggest the possibility that the incorporated support of the aortic root allowed recovery of the microstructure of the media. PMID:25406424

  10. [The clinico-dopplerographic characteristics of the initial manifestations of cerebral circulatory insufficiency in patients with vertebral artery hypoplasia combined with osteochondrosis of the cervical spine].

    PubMed

    Gongal'skiĭ, V V; Tsiurko, B O

    2000-01-01

    In the examination of 44 patients with primary hypoplasia of the vertebral artery (less than 2.5 mm in diameter) associated with osteochondrosis of the cervical segment of the vertebral column there have been revealed the following neuropathological manifestations of cerebral circulation insufficiency in the vertebral-basilar basin: cephalalgia, cochlear syndrome, vestibulocerebellar syndrome, vegetovascular dystonia. Ultrasound investigation of the vertebral arteries bloodflow showed a decrease in bloodflow in the intracranial length of the hypoplastic artery and an increase in the resistance to bloodflow in the extracranial segments (V2, V3). Ten patients with functional disorders in the cervical portion of the spine were exposed to orthopedic therapy directed to restoration of mobility and of topography of individual motor segments of the spinal cervical section. The studies made showed that hypoplasia of vertebral arteries can present as cerebral circulatory insufficiency in the vertebral-basilar basin, which tends to increase or reveals itself in a concurrent development of vertebrogenic reflex vasoconstriction. Restoration of the spine function (mobility) is an effective medico-prophylactic measure aimed to resolve the vertebrogenically caused spasm of the artery.

  11. NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

    PubMed

    Grisart, Bernard; Rack, Katrina; Vidrequin, Sébastien; Hilbert, Pascale; Deltenre, Pierre; Verellen-Dumoulin, Christine; Destrée, Anne

    2008-03-01

    NF1 microdeletion syndrome is a common dominant genomic disorder responsible for around 5% of type I neurofibromatosis cases. The majority of cases are caused by mutations arising within the NF1 gene. NF1 microdeletion carriers present a more severe phenotype than patients with intragenic mutations, including mental retardation, cardiac anomalies and dysmorphic features. Here, we report on two brothers with mental retardation presenting a microduplication of the NF1 microdeletion syndrome region detected by array-CGH analysis. Main phenotypic features are mental deficiency, early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism. The breakpoint regions coincide with the repeats, and the recombination hot spots shown to mediate NF1 microdeletion through NAHR. A screening of the patients' familial relatives showed that this microduplication segregates in the family for at least two generations. This result demonstrates that both deletion and duplication of the NF1 region, at cytogenetic band 17q11.2, give rise to viable gametes, even if only NF1 microdeletions have been reported until now. Our study reports seven cases of NF1 microduplication within one family. Similar phenotypic abnormalities were present in most of the individuals, however, two displayed a normal phenotype, suggesting a potential incomplete penetrance of the phenotype associated with NF1 microduplication.

  12. Low-gradient aortic stenosis.

    PubMed

    Clavel, Marie-Annick; Magne, Julien; Pibarot, Philippe

    2016-09-07

    An important proportion of patients with aortic stenosis (AS) have a 'low-gradient' AS, i.e. a small aortic valve area (AVA <1.0 cm(2)) consistent with severe AS but a low mean transvalvular gradient (<40 mmHg) consistent with non-severe AS. The management of this subset of patients is particularly challenging because the AVA-gradient discrepancy raises uncertainty about the actual stenosis severity and thus about the indication for aortic valve replacement (AVR) if the patient has symptoms and/or left ventricular (LV) systolic dysfunction. The most frequent cause of low-gradient (LG) AS is the presence of a low LV outflow state, which may occur with reduced left ventricular ejection fraction (LVEF), i.e. classical low-flow, low-gradient (LF-LG), or preserved LVEF, i.e. paradoxical LF-LG. Furthermore, a substantial proportion of patients with AS may have a normal-flow, low-gradient (NF-LG) AS: i.e. a small AVA-low-gradient combination but with a normal flow. One of the most important clinical challenges in these three categories of patients with LG AS (classical LF-LG, paradoxical LF-LG, and NF-LG) is to differentiate a true-severe AS that generally benefits from AVR vs. a pseudo-severe AS that should be managed conservatively. A low-dose dobutamine stress echocardiography may be used for this purpose in patients with classical LF-LG AS, whereas aortic valve calcium scoring by multi-detector computed tomography is the preferred modality in those with paradoxical LF-LG or NF-LG AS. Although patients with LF-LG severe AS have worse outcomes than those with high-gradient AS following AVR, they nonetheless display an important survival benefit with this intervention. Some studies suggest that transcatheter AVR may be superior to surgical AVR in patients with LF-LG AS.

  13. Cocking of a poppet-disc prosthesis in the aortic position. A cause of intermittent aortic regurgitation.

    PubMed

    Hammer, W J; Hearne, M J; Roberts, W C

    1976-02-01

    Intermittent aortic regurgitation due to cocking is described for the first time after replacement of the aortic valve with a poppet-disc prosthesis. A combination of disc grooving and strut thrombus produced the cocking with resultant aortic regurgitation.

  14. Rapidly growing aortic arch aneurysm in Behcet's disease.

    PubMed

    Kojima, Nozomi; Sakano, Yasuhito; Ohki, Shin-Ichi; Misawa, Yoshio

    2011-03-01

    We present a patient with a nine-year history of Behçet's disease (BD), who developed a rapidly expanding aneurysm of the aortic arch. Three-dimensional computed tomography demonstrated a saccular aortic arch aneurysm with a maximal diameter of 5 cm. No bacteria were detected by serial blood cultures. The aneurysm, however, showed a multi-lobular cavity, mimicking an infectious aneurysm. Therefore, we prescribed antibacterial agents for one week. The patient still had a high-fever and an elevated C-reactive protein level thereafter. Aortic arch replacement was performed emergently. Because we were unable to determine whether the aneurysm was caused by infection or BD, the implanted prosthetic graft and the anastomotic sites were covered with a pedicle graft of the greater omentum, and we continued to administer antibacterial agents for four weeks postoperatively. The pathological examination showed neither bacteria nor cystic medial necrosis in the resected aortic wall. Inflammatory changes with eosinophilic infiltration were recognized mainly around the adventitia near the aneurysm. The patient had a favorable postoperative course without any complications.

  15. Endovascular Treatment of Acute and Chronic Thoracic Aortic Injury

    SciTech Connect

    Raupach, Jan Ferko, Alexander; Lojik, Miroslav; Krajina, Antonin; Harrer, Jan; Dominik, Jan

    2007-11-15

    Our aim is to present midterm results after endovascular repair of acute and chronic blunt aortic injury. Between December 1999 and December 2005, 13 patients were endovascularly treated for blunt aortic injury. Ten patients, 8 men and 2 women, mean age 38.7 years, were treated for acute traumatic injury in the isthmus region of thoracic aorta. Stent-graftings were performed between the fifth hour and the sixth day after injury. Three patients (all males; mean age, 66 years; range, 59-71 years) were treated due to the presence of symptoms of chronic posttraumatic pseudoaneurysm of the thoracic aorta (mean time after injury, 29.4 years, range, 28-32). Fifteen stent-grafts were implanted in 13 patients. In the group with acute aortic injury one patient died due to failure of endovascular technique. Lower leg paraparesis appeared in one patient; the other eight patients were regularly followed up (1-72 months; mean, 35.6 months), without complications. In the group with posttraumatic pseudoaneurysms all three patients are alive. One patient suffered postoperatively from upper arm claudication, which was treated by carotidosubclavian bypass. We conclude that the endoluminal technique can be used successfully in the acute repair of aortic trauma and its consequences. Midterm results are satisfactory, with a low incidence of neurologic complications.

  16. Cardiac Imaging for Assessing Low-Gradient Severe Aortic Stenosis.

    PubMed

    Clavel, Marie-Annick; Burwash, Ian G; Pibarot, Philippe

    2017-02-01

    Up to 40% of patients with aortic stenosis (AS) harbor discordant Doppler-echocardiographic findings, the most common of which is the presence of a small aortic valve area (≤1.0 cm(2)) suggesting severe AS, but a low gradient (<40 mm Hg) suggesting nonsevere AS. The purpose of this paper is to present the role of multimodality imaging in the diagnostic and therapeutic management of this challenging entity referred to as low-gradient AS. Doppler-echocardiography is critical to determine the subtype of low-gradient AS: that is, classical low-flow, paradoxical low-flow, or normal-flow. Patients with low-flow, low-gradient AS generally have a worse prognosis compared with patients with high-gradient or with normal-flow, low-gradient AS. Patients with low-gradient AS and evidence of severe AS benefit from aortic valve replacement (AVR). However, confirmation of the presence of severe AS is particularly challenging in these patients and requires a multimodality imaging approach including low-dose dobutamine stress echocardiography and aortic valve calcium scoring by multidetector computed tomography. Transcatheter AVR using a transfemoral approach may be superior to surgical AVR in patients with low-flow, low-gradient AS. Further studies are needed to confirm the best valve replacement procedure and prosthetic valve for each category of low-gradient AS and to identify patients with low-gradient AS in whom AVR is likely to be futile.

  17. A preliminary analysis of aortic injuries in lateral impacts.

    PubMed

    Franklyn, Melanie; Fitzharris, Michael; Fildes, Brian; Yang, King; Frampton, Richard; Morris, Andrew

    2003-09-01

    Injuries to the aorta are among the more serious injuries that result from vehicle impacts, and often may be fatal. This article examines the incidence of aortic injuries in the United States and United Kingdom by using two international databases of real-world crashes. The main outcome of interest was the level of risk associated with each principal direction of force for drivers and front-seat passengers with respect to sustaining aortic injuries. The results indicate that the risk of sustaining an injury to the aorta is greater for near-side crashes than for far-side crashes. Further it is apparent that, given a near-side crash, the risk of an aortic injury is greater on the left side of the body (and left side of the vehicle) than on the right. It also was found that the delta-V of crashes where occupants sustained an injury to the aorta was considerably higher than crashes where occupants did not sustain aortic injuries. It is speculated that the anatomical asymmetry of the thorax might play a role in the differences seen in injury risk associated with different impact directions. The results presented in this article could be of use to both the emergency physician treating patients involved in motor vehicle collisions as well as the engineer involved in occupant design countermeasures. Limitations and further planned research are discussed.

  18. Wall shear stress indicators in abnormal aortic geometries

    NASA Astrophysics Data System (ADS)

    Prahl Wittberg, Lisa; van Wyk, Stevin; Fuchs, Laszlo; Gutmark, Ephraim; Gutmark-Little, Iris

    2015-11-01

    Cardiovascular disease, such as atherosclerosis, occurs at specific locations in the arterial tree. Characterizing flow and forces at these locations is crucial to understanding the genesis of disease. Measures such as time average wall shear stress, oscillatory shear index, relative residence time and temporal wall shear stress gradients have been shown to identify plaque prone regions. The present paper examines these indices in three aortic geometries obtained from patients whose aortas are deformed due to a genetic pathology and compared to one normal geometry. This patient group is known to be prone to aortic dissection and our study aims to identify early indicators that will enable timely intervention. Data obtained from cardiac magnetic resonance imaging is used to reconstruct the aortic arch. The local unsteady flow characteristics are calculated, fully resolving the flow field throughout the entire cardiac cycle. The Quemada model is applied to account for the non-Newtonian properties of blood, an empirical model valid for different red blood cell loading. The impact of the deformed aortic geometries is analyzed to identify flow patterns that could lead to arterial disease at certain locations.

  19. Professional parachuting: the risk of acute aortic dissection.

    PubMed

    Buchholz, Stefan; Quaden, René Bombien; Schmitz, Christoph; Überfuhr, Peter

    2011-09-01

    Acute aortic dissection is a rare disease, but if it occurs rapid diagnosis and therapy are needed. It is usually seen in elderly patients with long-term persistent arterial hypertension. In younger patients, it is mainly caused by congenital connective tissue disorders, such as Marfan syndrome, or by trauma. We present here a 34-year-old male patient with an acute type A aortic dissection. This patient was a professional parachutist and had carried out a large number of parachute jumps during his lifetime. He was admitted to the emergency department with acute chest pain. The symptoms were not related in time to a parachute jump. During a computed tomography scan, an aortic dissection was diagnosed. The patient was immediately referred to the operating room, and the ascending aorta was replaced by a conduit. After a regular postoperative course, the patient was discharged and recovered completely. Although acute aortic dissection is rare in young patients, it has to be considered in cases of acute chest pain. An immediate diagnosis and adequate therapy are essential to offer the patient a good clinical outcome and long-term survival.

  20. Bacillus licheniformis prosthetic aortic valve endocarditis.

    PubMed Central

    Santini, F; Borghetti, V; Amalfitano, G; Mazzucco, A

    1995-01-01

    A 73-year old man developed an acute prosthetic aortic valve dehiscence for which emergent operation was undertaken. The intraoperative evidence of an aortic annular disruption and of a subannular abscess led to the hypothesis that an endocarditis process was involved. The aortic valve was replaced with a stentless porcine bioprosthesis. Cultures taken intraoperatively from the aortic area had a pure growth of aerobic, spore-forming, gram-positive bacilli identified as Bacillus licheniformis. The patient responded to specific antibiotic therapy with no relapse at a 20-month follow-up. The potentiality of B. licheniformis as a pathogen should be reconsidered. PMID:8576381

  1. Aortic Aneurysm: Etiopathogenesis and Clinicopathologic Correlations

    PubMed Central

    2016-01-01

    Aortic aneurysm (AA) is one of the life-threatening aortic diseases, leading to aortic rupture of any cause including atherosclerotic and non-atherosclerotic diseases. AA is diagnosed in a variable proportion of patients with dilated aorta by imaging modality. The etiopathogenesis of AA remains unclear in many aortic diseases. Furthermore, although it may be difficult to explain all phenotypes of patients even if genetic mutation could be identified in some proteins such as smooth muscle cell α-actin (ACTA2), myosin heavy chain 11 (MYH11) or SMAD3, individualized consideration of these factors in each patient is essential on the basis of clinicopathological characteristics. PMID:27375798

  2. Aortic dilatation in children with systemic hypertension.

    PubMed

    Gupta-Malhotra, Monesha; Devereux, Richard B; Dave, Archana; Bell, Cynthia; Portman, Ronald; Milewicz, Diana

    2014-04-01

    The aim of the study was to determine the presence of aortic dilatation in hypertensive children, the prevalence of which is 4% to 10% in hypertensive adults. Prospectively enrolled multiethnic children, untreated for their hypertension, underwent an echocardiogram to exclude congenital heart disease and evaluate for end-organ damage and aortic size. The aorta was measured in the parasternal long-axis view at three levels: the sinus of Valsalva, supra-tubular junction, and the ascending aorta. Aortic dilatation was determined by z-score >2 at any one of the levels measured. Hypertension was defined as blood pressure above the 95th percentile based on the Fourth Working Group criteria confirmed by 24-hour ambulatory blood pressure monitoring. Among 142 consecutive hypertensive children (median age, 14 years; 45% females) aortic dilatation was detected in 2.8% (95% confidence interval, 1%-7%; median age, 16 years; 100% females). Children with aortic dilatation, when compared with those without, had significantly more aortic valve insufficiency (P = .005) and left ventricular hypertrophy (P = .018). Prevalence of aortic dilatation was 2.8% and was associated with significantly more aortic insufficiency and left ventricular hypertrophy in comparison to those without aortic dilatation.

  3. Aortic Dilatation in Children with Systemic Hypertension

    PubMed Central

    Gupta-Malhotra, Monesha; Devereux, Richard B.; Dave, Archana; Bell, Cynthia; Portman, Ronald; Milewicz, Diana

    2014-01-01

    Background The aim of the study was to determine presence of aortic dilatation in hypertensive children, the prevalence of which is 4–10% in hypertensive adults. Methods Prospectively enrolled multiethnic children untreated for their hypertension, underwent an echocardiogram to exclude congenital heart disease and evaluate for end-organ damage and aortic size. The aorta was measured in the parasternal long-axis view at 3 levels: the sinus of Valsalva, supra-tubular junction and the ascending aorta. Aortic dilatation was determined by z-score > 2 at any 1 of the levels measured. Hypertension was defined as blood pressure above the 95th percentile based on the Fourth Working Group criteria confirmed by 24-hour ambulatory blood pressure monitoring. Results Among 142 consecutive hypertensive children (median age 14 years, 45% females) aortic dilatation was detected in 2.8% (95% CI 1% to 7%, median age 16 years, 100% females). Children with aortic dilatation, when compared to those without, had significantly more aortic valve insufficiency (p = 0.005) and left ventricular hypertrophy (p = 0.018). Conclusions Prevalence of aortic dilatation was 2.8% and was associated with significantly more aortic insufficiency and left ventricular hypertrophy in comparison to those without aortic dilatation. PMID:24507486

  4. Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

    PubMed Central

    Wang, Li; Guo, Dong-chuan; Cao, Jiumei; Gong, Limin; Kamm, Kristine E.; Regalado, Ellen; Li, Li; Shete, Sanjay; He, Wei-Qi; Zhu, Min-Sheng; Offermanns, Stephan; Gilchrist, Dawna; Elefteriades, John; Stull, James T.; Milewicz, Dianna M.

    2010-01-01

    Mutations in smooth muscle cell (SMC)-specific isoforms of α-actin and β-myosin heavy chain, two major components of the SMC contractile unit, cause familial thoracic aortic aneurysms leading to acute aortic dissections (FTAAD). To investigate whether mutations in the kinase that controls SMC contractile function (myosin light chain kinase [MYLK]) cause FTAAD, we sequenced MYLK by using DNA from 193 affected probands from unrelated FTAAD families. One nonsense and four missense variants were identified in MYLK and were not present in matched controls. Two variants, p.R1480X (c.4438C>T) and p.S1759P (c.5275T>C), segregated with aortic dissections in two families with a maximum LOD score of 2.1, providing evidence of linkage of these rare variants to the disease (p = 0.0009). Both families demonstrated a similar phenotype characterized by presentation with an acute aortic dissection with little to no enlargement of the aorta. The p.R1480X mutation leads to a truncated protein lacking the kinase and calmodulin binding domains, and p.S1759P alters amino acids in the α-helix of the calmodulin binding sequence, which disrupts kinase binding to calmodulin and reduces kinase activity in vitro. Furthermore, mice with SMC-specific knockdown of Mylk demonstrate altered gene expression and pathology consistent with medial degeneration of the aorta. Thus, genetic and functional studies support the conclusion that heterozygous loss-of-function mutations in MYLK are associated with aortic dissections. PMID:21055718

  5. Incidence and prognosis of congenital aortic valve stenosis in Liverpool (1960-1990).

    PubMed Central

    Kitchiner, D J; Jackson, M; Walsh, K; Peart, I; Arnold, R

    1993-01-01

    OBJECTIVE--To determine the incidence and prognosis of congenital aortic valve stenosis in the five Health Districts of Liverpool that make up the Merseyside area. DESIGN--The records of the Liverpool Congenital Malformations Registry and the Royal Liverpool Children's Hospital identified 239 patients (155 male, 84 female) born with aortic valve stenosis between 1960 and 1990. Patients were traced to assess the severity of stenosis at follow up. Information on the severity at presentation and all subsequent events was obtained. RESULTS--Congenital aortic valve stenosis occurred in 5.7% of patients with congenital heart disease born in the Merseyside area. The median age at presentation was 16 months (range 0-20 years). Stenosis was mild at presentation in 145 patients, moderate in 33, severe in one and critical in 21 and 39 had a bicuspid valve without stenosis. Additional cardiac lesions were significantly more common in children presenting under one year of age and in those with critical stenosis. The median duration of follow up was 9.2 years (range 1-28 years) and seven patients were lost to follow up. 81 operations were performed in 60 patients. The reoperation rate was 28.3% after a median duration of 8.7 years (range 2.5-18 years). 15% of patients who presented with mild stenosis subsequently required operation compared with 67% of those with moderate stenosis. There were no sudden unexpected deaths and no deaths after aortic valvotomy, except in those presenting with critical stenosis. Mortality was 16.7% but patients presenting with critical aortic stenosis had a much worse prognosis. Actuarial and hazard analysis showed that the survival and absence of serious events (aortic valve surgery or balloon dilatation, endocarditis, or death) were significantly better in patients who presented with mild aortic stenosis than in those who presented with moderate aortic stenosis. 75% of patients presenting with mild stenosis had not progressed to moderate stenosis

  6. Initial Surgical Experience with Aortic Valve Repair: Clinical and Echocardiographic Results

    PubMed Central

    da Costa, Francisco Diniz Affonso; Colatusso, Daniele de Fátima Fornazari; da Costa, Ana Claudia Brenner Affonso; Balbi Filho, Eduardo Mendel; Cavicchioli, Vinicius Nesi; Lopes, Sergio Augusto Veiga; Ferreira, Andrea Dumsch de Aragon; Collatusso, Claudinei

    2016-01-01

    Introduction Due to late complications associated with the use of conventional prosthetic heart valves, several centers have advocated aortic valve repair and/or valve sparing aortic root replacement for patients with aortic valve insufficiency, in order to enhance late survival and minimize adverse postoperative events. Methods From March/2012 thru March 2015, 37 patients consecutively underwent conservative operations of the aortic valve and/or aortic root. Mean age was 48±16 years and 81% were males. The aortic valve was bicuspid in 54% and tricuspid in the remaining. All were operated with the aid of intraoperative transesophageal echocardiography. Surgical techniques consisted of replacing the aortic root with a Dacron graft whenever it was dilated or aneurysmatic, using either the remodeling or the reimplantation technique, besides correcting leaflet prolapse when present. Patients were sequentially evaluated with clinical and echocardiographic studies and mean follow-up time was 16±5 months. Results Thirty-day mortality was 2.7%. In addition there were two late deaths, with late survival being 85% (CI 95% - 68%-95%) at two years. Two patients were reoperated due to primary structural valve failure. Freedom from reoperation or from primary structural valve failure was 90% (CI 95% - 66%-97%) and 91% (CI 95% - 69%-97%) at 2 years, respectively. During clinical follow-up up to 3 years, there were no cases of thromboembolism, hemorrhage or endocarditis. Conclusions Although this represents an initial series, these data demonstrates that aortic valve repair and/or valve sparing aortic root surgery can be performed with satisfactory immediate and short-term results. PMID:27556321

  7. Aortic valve insufficiency in the teenager and young adult: the role of prosthetic valve replacement.

    PubMed

    Bradley, Scott M

    2013-10-01

    The contents of this article were presented in the session "Aortic insufficiency in the teenager" at the congenital parallel symposium of the 2013 Society of Thoracic Surgeons (STS) annual meeting. The accompanying articles detail the approaches of aortic valve repair and the Ross procedure.(1,2) The current article focuses on prosthetic valve replacement. For many young patients requiring aortic valve surgery, either aortic valve repair or a Ross procedure provides a good option. The advantages include avoidance of anticoagulation and potential for growth. In other patients, a prosthetic valve is an appropriate alternative. This article discusses the current state of knowledge regarding mechanical and bioprosthetic valve prostheses and their specific advantages relative to valve repair or a Ross procedure. In current practice, young patients requiring aortic valve surgery frequently undergo valve replacement with a prosthetic valve. In STS adult cardiac database, among patients ≤30 years of age undergoing aortic valve surgery, 34% had placement of a mechanical valve, 51% had placement of a bioprosthetic valve, 9% had aortic valve repair, and 2% had a Ross procedure. In the STS congenital database, among patients 12 to 30 years of age undergoing aortic valve surgery, 21% had placement of a mechanical valve, 18% had placement of a bioprosthetic valve, 30% had aortic valve repair, and 24% had a Ross procedure. In the future, the balance among these options may be altered by design improvements in prosthetic valves, alternatives to warfarin, the development of new patch materials for valve repair, and techniques to avoid Ross autograft failure.

  8. Descending aortic replacement after Nuss for pectus excavatum in a Marfan patient—Case report

    PubMed Central

    Jaroszewski, Dawn; Ewais, MennatAllah; DeValeria, Patrick; Gotway, Michael; Craig Miller, D.

    2016-01-01

    Introduction The Nuss procedure for pectus excavatum (PE) repair has been successfully performed in Marfan syndrome (MFS) patients however there is concern for future risk of aortic dilation/rupture and need for emergent access with support bars in place. Case presentation We present a 45 year-old male with MFS that required descending aortic replacement shortly after modified Nuss repair. Discussion The majority of MFS patients have severe PE and repair with the Nuss procedure is not uncommon. The risk for life threatening aortic dilation, dissection, or rupture in such patients is a concern when utilizing this technique. Our work has been reported in line with the CARE criteria. Conclusion Nuss repair should be considered in MFS patients with technique modifications and careful consideration of future risk of aortic dilation and rupture. PMID:26895112

  9. Simulation of Transcatheter Aortic Valve Replacement in patient-specific aortic roots: Effect of crimping and positioning on device performance.

    PubMed

    Bianchi, Matteo; Ghosh, Ram P; Marom, Gil; Slepian, Marvin J; Bluestein, Danny

    2015-01-01

    Calcific aortic valve disease (CAVD) is a cardiovascular condition that causes the progressive narrowing of the aortic valve (AV) opening, due to the growth of bone-like deposits all over the aortic root (AR). Transcatheter aortic valve replacement (TAVR), a minimally invasive procedure, has recently become the only lifesaving solution for patients that cannot tolerate the standard surgical valve replacement. However, adverse effects, such as AR injury or paravalvular leakage (PVL), may occur as a consequence of a sub-optimal procedure, due to the presence of calcifications in situ. Additionally, the crimping required for delivering the valve via stenting may damage the valve. The aim of the present study is to comparatively assess the crimping mechanics of the commercialized Edwards SAPIEN valve and an alternative polymeric valve (Polynova, Inc) and to evaluate the effect of different TAVR deployment positions using patient-specific numerical models. The optimal deployment location for achieving better patient outcomes was calculated and based on the interactions between the TAVR stent and the native AR. Results demonstrated that the Polynova valve withstands the crimping process better than the SAPIEN valve. Furthermore, deployment simulations showed the role that calcifications deposits may play in the TAVR sub-optimal valve anchoring to the AV wall, leading to the presence of gaps that result in PVL.

  10. Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia

    SciTech Connect

    Pierce, G.F.; Brovall, C.; Schacter, B.Z.; Polmar, S.H.

    1983-06-01

    Recent studies of cartilage-hair hypoplasia (CHH), a form of short-limbed dwarfism, have shown that all affected individuals have a cellular proliferation defect that results in a cellular immunodeficiency. However, only a minority of CHH individuals suffer from severe, life-threatening infections. For this reason, relevant immune defense mechanisms that may be responsible for maintaining intact host defenses in the majority of CHH individuals were studied. Spontaneous and allogeneic culture-induced (mixed lymphocyte response-MLR) specific and nonspecific (NK-like) cytotoxic mechanisms were analyzed and correlated with lymphocyte subpopulations present in CHH and normal individuals. Spontaneous natural-killer (NK) activity was present at or above normal levels, but culture-induced specific cytotoxicity and NK-like cytotoxicity as well as NK-like activity by T cell lines were significantly reduced in CHH individuals. The generation of radiation-resistant cytotoxicity, which normally occurs during allogeneic MLR, was markedly diminished in CHH, and was correlated with the decreased proliferation observed in CHH cultures. Preservation of spontaneous NK activity and loss of all forms of culture-induced cytotoxicity was associated with an increase in the proportion of lymphocytes bearing a thymic independent NK phenotype, and a significant decrease in thymic derived cytolytic T cell sub-populations in CHH individuals. Therefore, an intact cellular cytotoxic effector mechanism has been identified in CHH (i.e., NK activity).

  11. Does altered aortic flow in marfan syndrome relate to aortic root dilatation?

    PubMed Central

    Wang, Hung‐Hsuan; Chiu, Hsin‐Hui; Tseng, Wen‐Yih Isaac

    2016-01-01

    Purpose To examine possible hemodynamic alterations in adolescent to adult Marfan syndrome (MFS) patients with aortic root dilatation. Materials and Methods Four‐dimensional flow MRI was performed in 20 MFS patients and 12 age‐matched normal subjects with a 3T system. The cross‐sectional areas of 10 planes along the aorta were segmented for calculating the axial and circumferential wall shear stress (WSSaxial, WSScirc), oscillatory shear index (OSIaxial, OSIcirc), and the nonroundness (NR), presenting the asymmetry of segmental WSS. Pearson's correlation analysis was performed to present the correlations between the quantified indices and the body surface area (BSA), aortic root diameter (ARD), and Z score of the ARD. P < 0.05 indicated statistical significance. Results Patients exhibited lower WSSaxial in the aortic root and the WSScirc in the arch (P < 0.05–0.001). MFS patients exhibited higher OSIaxial and OSIcirc in the sinotubular junction and arch, but lower OSIcirc in the descending aorta (all P < 0.05). The NR values were lower in patients (P < 0.05). The WSSaxial or WSScirc exhibited moderate to strong correlations with BSA, ARD, or Z score (R2 = 0.50–0.72) in MFS patients. Conclusion The significant differences in the quantified indices, which were associated with BSA, ARD, or Z score, in MFS were opposite to previous reports for younger MFS patients, indicating that altered flows in MFS patients may depend on the disease progress. The possible time dependency of hemodynamic alterations in MFS patients strongly suggests that longitudinal follow‐up of 4D Flow is needed to comprehend disease progress. J. Magn. Reson. Imaging 2016;44:500–508. PMID:26854646

  12. Congenital tetraplegia, respiratory insufficiency, and hypoplasia of medulla oblongata.

    PubMed

    Bode, H; Bubl, R; Rutishauser, M; Nars, P W

    1994-03-01

    A term infant with normal delivery presented with congenital tetraplegia and respiratory insufficiency just after birth. Magnetic resonance tomography on days 8 and 72 of life revealed an extreme thinning of the lower medulla oblongata. Endoscopy confirmed this and demonstrated the presence of vascular anomalies around the lesion which were not detectable by angiography. It is presumed that this is a malformation of the lower medulla oblongata.

  13. Aortic valve replacement for aortic stenosis with a small aortic annulus in a patient having Werner's syndrome and liver cirrhosis.

    PubMed

    Sogawa, M; Kasuya, S; Yamamoto, K; Koshika, M; Oguma, F; Hayashi, J

    2001-12-01

    Werner's syndrome is a rare genetic disease characterized by premature aging and scleroderma-like involvement of the skin. We report a case of aortic valve replacement for severely calcified aortic valve stenosis with a small annulus in a patient suffering from Werner's syndrome and liver cirrhosis

  14. Aortic Stiffness, Cerebrovascular Dysfunction, and Memory

    PubMed Central

    Cooper, Leroy L.; Mitchell, Gary F.

    2016-01-01

    Background Aortic stiffness is associated with cardiovascular and cerebrovascular events and cognitive decline. This mini-review focuses on relations of aortic stiffness with microvascular dysfunction and discusses the contribution of abnormal pulsatile hemodynamics to cerebrovascular damage and cognitive decline. We also provide a rationale for considering aortic stiffness as a putative and important contributor to memory impairment in older individuals. Summary Aging is associated with stiffening of the aorta but not the muscular arteries, which reduces wave reflection and increases the transmission of pulsatility into the periphery. Aortic stiffening thereby impairs a protective mechanism that shields the peripheral microcirculation from excessive pulsatility within downstream target organs. Beyond midlife, aortic stiffness increases rapidly and exposes the cerebral microcirculation to abnormal pulsatile mechanical forces that are associated with microvascular damage and remodeling in the brain. Aortic stiffening and high-flow pulsatility are associated with alterations in the microvasculature of the brain; however, a mechanistic link between aortic stiffness and memory has not been established. We showed that in a community-based sample of older individuals, cerebrovascular resistance and white matter hyperintensities - markers of cerebrovascular remodeling and damage - mediated the relation between higher aortic stiffness and lower performance on memory function tests. These data suggest that microvascular and white matter damage associated with excessive aortic stiffness contribute to impaired memory function with advancing age. Key Messages Increasing evidence suggests that vascular etiologies - including aortic stiffness and microvascular damage - contribute to memory impairment and the pathogenesis of dementia, including Alzheimer's disease. Interventions that reduce aortic stiffness may delay memory decline among older individuals. PMID:27752478

  15. Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia.

    PubMed

    Labib, Dina; Soliman, Haytham; Said, Kareem; Sorour, Khaled

    2016-11-30

    An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. Medical treatment resulted in significant improvement of dyslipidaemia. We successfully performed balloon dilation and stenting of his coarctation, as well as percutaneous coronary intervention for RCA lesion.

  16. Technetium-99m MAG3 renal scintigraphy with demonstration of aortic dissection.

    PubMed

    Nguyen, Ba D

    2005-08-01

    Demonstration of type B aortic dissection is rare during renal scintigraphy. The discordant radionuclide pattern of asymmetric renal flow with equivalent renal function and excretion has been previously reported in aortic dissection. However, delayed scintigraphic features of the false lumen have not been described. The author presents such a case with persistent technetium-99m MAG3 accumulation in the posterior mediastinum on postvoid planar imaging.

  17. A critical appraisal of endovascular stent-grafts in the management of abdominal aortic aneurysms.

    PubMed

    Schoretsanitis, Nikolaos; Georgakarakos, Efstratios; Argyriou, Christos; Ktenidis, Kiriakos; Georgiadis, George S

    2017-04-01

    Endovascular repair of abdominal aortic aneurysms has widely replaced the open surgical repair due to its minimal invasive nature and the accompanying lower perioperative mortality and morbidity. During the past two decades, certain improvements and developments have provided a wide variety of endograft structural designs and geometric patterns, enabling the physician to approach a more patient-specific treatment of AAA. This review presents the currently available aortic endografts and describes the clinical, technical and mechanical characteristics of them.

  18. Transcatheter Aortic Valve Implantation in an Extremely Tortuous S-Shaped Aorta

    PubMed Central

    Toleva, Olga; Pozeg, Zlatko; Menkis, Alan

    2017-01-01

    Transcatheter aortic valve implantation (TAVI) has emerged as an alternative technique to treating aortic stenosis in patients with high surgical risk. We present a case of a successful transfemoral TAVI in a high-risk patient with an extremely tortuous iliofemoral system and a significant S-type bend in the descending aorta. With careful preprocedure planning and using all the techniques available, TAVI can be performed in the most challenging patients. PMID:28352480

  19. An annotation on the pulse in aortic regurgitation: Thomas Cuming, 1822.

    PubMed

    Kligfield, P

    1979-08-01

    The classic bounding pulse of aortic regurgitation was described by several authors before Corrigan made his comprehensive study of the disorder in 1832. The case report of Thomas Cuming, published 10 years earlier, is worthy of review. This Dublin practitioner not only presented signs and symptoms of aortic regurgitation proved at autopsy, but also attempted with considerable success to relate the signs to circulatory dynamics.

  20. Prosthetic valve endocarditis after transcatheter aortic valve implantation-diagnostic and surgical considerations

    PubMed Central

    Klaaborg, Kaj Erik; Hjortdal, Vibeke; Nørgaard, Bjarne Linde; Terkelsen, Christian Juhl; Jensen, Kaare; Christiansen, Evald Høj; Terp, Kim Allan; Andersen, Gratien; Hvitfeldt, Steen; Andersen, Henning Rud

    2016-01-01

    Prosthetic valve endocarditis (PVE) after transcatheter aortic valve implantation (TAVI) or surgical aortic valve replacement (SAVR) is a potential life threatening complication. Better understanding of the incidence, predictors, clinical presentation, diagnostic measures, complications and management of PVE may help improve TAVI long-term outcome. We report a case of TAVI-PVE in an 80-year-old high risk patient in whom SAVR was successfully performed. We have reviewed literature regarding TAVI-PVE. PMID:27867590