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Sample records for aortic hypoplasia presented

  1. A right-sided aortic arch and aberrant left subclavian artery with proximal segment hypoplasia.

    PubMed

    Margolis, Justin; Bilfinger, Thomas; Labropoulos, Nicos

    2012-03-01

    The right-sided thoracic aortic arch is a rare congenital malformation occurring during embryologic development. A majority of the cases present with two anatomic variations, one of which is an aberrant left subclavian artery (LSA) originating off the distal descending aortic arch. This aberrant LSA courses across and compresses thoracic structures on its way to the left thoracic outlet. While this aberrant vessel causes mostly benign symptoms, patients may first present with rupture of a thoracic aneurysm. This thoracic aneurysm is commonly known as Kommerell's diverticulum. This paper presents a case of an aberrant LSA originating off Kommerell's diverticulum with a proximal long-segment hypoplasia, a very rare anatomic variation.

  2. 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.

  3. Persistent Aortic Arch Hypoplasia After Coarctation Treatment Is Associated With Late Systemic Hypertension

    PubMed Central

    Quennelle, Sophie; Powell, Andrew J; Geva, Tal; Prakash, Ashwin

    2015-01-01

    Background Mild transverse aortic arch (TAA) hypoplasia is common after coarctation treatment, but is considered benign in the absence of an arm-leg systolic blood pressure (SBP) difference. Hypertension (HTN) is a common long-term morbidity after successful coarctation treatment. We examined whether mild TAA hypoplasia after coarctation treatment is associated with late systemic HTN. Methods and Results We retrospectively reviewed 92 patients (median age, 19.9 years; range, 4.9 to 57.8; 60% male) 14.1±10.3 years after successful coarctation treatment (surgery in 63, stent in 16, and balloon dilation in 13), excluding those with resting right arm-leg blood pressure gradient >20 mm Hg, atypical coarctation, and major associated heart defects. Minimum body-surface area (BSA)-adjusted TAA cross-sectional area (CSA) was calculated from cardiac magnetic resonance (CMR) images. On follow-up, 38 of 92 (41%) patients had systemic HTN using standard criteria. Systemic HTN was independently associated with smaller TAA CSA/BSA (P=0.006; odds ratio [OR], 6.41 per 0.5 cm2/m2 decrease), higher age at CMR (P=0.03; OR, 1.57 per 5-year increase), and in a subset (n=61), higher arm-leg SBP difference during exercise (P=0.05; OR, 1.03 per 1-mm-Hg increase). Lower ratio of TAA diameter/descending aorta diameter was associated with a larger increase in right arm SBP during peak exercise (P=0.006; r2=0.11). Conclusions Persistent mild aortic arch hypoplasia, even in the absence of an arm-leg SBP difference at rest, is associated with late systemic HTN. Further studies should be undertaken to determine whether more-aggressive arch reconstruction at initial repair can reduce the incidence of systemic HTN. PMID:26112642

  4. Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.

    PubMed

    Capasso, Letizia; Borrelli, Angela Carla; Cerullo, Julia; Pirozzi, Maria Rosaria; Raimondi, Francesco

    2016-09-01

    Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly suggestive of SDS but most often they are seen during childhood and adolescence. We present a case of preterm twins with prenatal diagnosis of thoracic hypoplasia and a clinical evolution that lead to an early diagnosis of SDS. This report highlights the importance of a high index of suspicion for SDS in case of neonatal thoracic hypoplasia. PMID:27617157

  5. Peripartum presentation of an acute aortic dissection.

    PubMed

    Lewis, S; Ryder, I; Lovell, A T

    2005-04-01

    We report the case of an acute type A aortic dissection occurring in a 35-year-old parturient. The initial diagnosis was missed; a subsequent emergency Caesarean section 3 weeks after presentation was followed by the development of left ventricular failure and pulmonary oedema in the early postoperative period. Echocardiography confirmed the diagnosis of aortic dissection and the patient underwent a successful surgical repair.

  6. Peripartum presentation of an acute aortic dissection.

    PubMed

    Lewis, S; Ryder, I; Lovell, A T

    2005-04-01

    We report the case of an acute type A aortic dissection occurring in a 35-year-old parturient. The initial diagnosis was missed; a subsequent emergency Caesarean section 3 weeks after presentation was followed by the development of left ventricular failure and pulmonary oedema in the early postoperative period. Echocardiography confirmed the diagnosis of aortic dissection and the patient underwent a successful surgical repair. PMID:15640303

  7. The endovascular management of recurrent aortic hypoplasia and coarctation in a 15-year-old male.

    PubMed

    Rhodes, Andrew B; O'Donnell, Sean D; Gillespie, David L; Rasmussen, Todd E; Johnson, Chatt A; Fox, Charles J; Burklow, Thomas R; Hagler, David J

    2005-03-01

    A 15-year-old male complained of easy fatigability, leg weakness, and pain on exertion with episodes of syncope while playing baseball. His past medical history was significant for aortic coarctation associated with a congenital bovine hypoplastic aortic arch. A recent arteriogram revealed innominate and left common carotid artery stenosis as well as recurrent coarctation. He had previously undergone three Dacron patch aortoplasties. At the age of 7, he underwent a fourth operation for recurrent coarctation and because of extensive scar tissue in the region of his prior procedures, a left subclavian artery-to-descending aortic bypass was performed. An endovascular repair to deal with the recent recurrence was performed because of prior surgical difficulties. Percutaneous balloon-expandable stents were placed in the aortic coarctation, innominate, and the left common carotid arteries. Postprocedure, ankle brachial indices were >1 and the patient remains asymptomatic after 1 year.

  8. WUnicuspid Aortic Valve- An Uncommon Anomaly With a Common Presentation.

    PubMed

    Sitwala, Puja; Abusara, Ashraf; Ladia, Vatsal; Ladia, Vatsal; Panchal, Hemang B; Raudat, Charles; Paul, Timir K

    2016-01-01

    Unicuspid aortic valve (UAV), which is a rare congenital anomaly, usually presents as aortic stenosis and/or aortic regurgitation. Here we present a case of UAV co-existent with an ascending aortic aneurysm. A 26-year-old male with no significant past medical history presented to the hospital after two episodes of syncope. Transthoracic echocardiogram showed an ejection fraction of 62%, severely stenotic aortic valve, and moderate aortic regurgitation. Computed tomography revealed calcification of the aortic valve, compatible with aortic stenosis and aneurysm of the ascending aorta measuring 4.3 cm in diameter. He underwent successful aortic valve replacement and repair of ascending aortic aneurysm. He recovered well without any complications. This case suggests that any young patient who presents with syncope, aortic stenosis would be a differential and further workup by any available non-invasive modality needs to be performed.

  9. Hypoplasia of the inferior vena cava in a young man presenting with extensive deep venous thrombosis.

    PubMed

    Alderman, Bryony Eloise Pfyffer; de Boisanger, James; Bottomley, Thomas

    2015-01-01

    We present a case of a 34-year-old man with extensive deep venous thrombosis (DVT) who was found to have multiple abnormalities of venous anatomy, notably hypoplasia of the inferior vena cava with azygous continuation. DVT has an annual incidence of around 1 in 1000 people in the UK. Many cases will have readily identifiable risk factors, such as underlying malignancy, immobility or thrombophilia, but at times, these might not be so straightforward and unexpected contributing factors may be found. Although relatively uncommon in the general population, congenital venous abnormalities have been found at higher incidence in young adults presenting with spontaneous DVT and should therefore remain a consideration when classical risk factors are absent.

  10. 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

  11. [Abdominal aortic aneurysm: an uncommon presentation].

    PubMed

    Taborda, Lúcia; Pereira, Laurinda; Amona, Eurides; Pinto, Erique Guedes; Rodrigues, Joaquim

    2011-01-01

    Most abdominal aortic aneurysms are asymptomatic, being accidentally found on physical examination or in routinely performed imaging studies. They only require surveillance (which is variable according to the aneurism size) and medical therapy in order to achieve risk factor reduction. However, in certain situations, according to the risk of aneurism rupture, elective surgery or endovascular procedure may be necessary. About 80% of the cases of aneurism rupture occur into the retroperitoneal space, with a high mortality rate. There are uncommon presentations of aneurism rupture as the aorto-caval fistula, which also require fast diagnosis and intervention. The authors present the case of a 71-year-old man, with the previous diagnosis of hypertension, acute myocardial infarction 2 months earlier (undergone primary Percutaneous Coronary Intervention) and tabagism, who was admitted at the emergency department with intense 24-hour-evolution epigastric pain. On physical examination, the Blood Pressure values measured at the lower limbs were about half the ones measured at the upper limbs and there was an abdominal pulsatile mass, with a high-intensity murmur. As the authors suspected aortic dissection, aneurysm, coarctation or thrombosis, it was done a Computed Tomography scanning with intravenous contrast, which revealed a ruptured abdominal aorta aneurysm with a mural thrombus. The doppler ultrasound confirmed the presence of a high debit aorto-caval fistula. The patient was immediately transferred to the Vascular Surgery. However he died 2 hours later, during surgery. PMID:22525642

  12. The many faces of aortic dissections: Beware of unusual presentations.

    PubMed

    Scaglione, Mariano; Salvolini, Luca; Casciani, Emanuele; Giovagnoni, Andrea; Mazzei, Maria Antonietta; Volterrani, Luca

    2008-03-01

    Aortic dissection is gaining recognition in Western societies, and it is being diagnosed with increasing frequency. New diagnostic imaging modalities, longer life expectancy, as well as the increase in the number patients suffering from hypertension have all contributed to the growing awareness of aortic dissection. Nevertheless, as many as 30% of patients ultimately diagnosed with acute dissection are first thought to be suffering from something else. The increased availability and use of multidetector computed tomography has led to the incidental discovery of aortic dissection in very different settings. This article focuses on unusual presentations of painless aortic dissection. It is important for radiologists to remember that aortic dissections may present in different ways, not only as an acute, critical fatality but also with subtle, unusual signs and symptoms, which apparently do not seem to be strictly related to aortic diseases. PMID:17950552

  13. [Maxillary sinus hypoplasia].

    PubMed

    Plaza, G; Ferrando, J; Martel, J; Toledano, A; de los Santos, G

    2001-03-01

    Maxillary sinus hypoplasia is rare, with an estimated prevalence of 1-5%. Out of the CT scans performed in sinusal patients between March 1998 and June 1999, we report on 4 isolated maxillary sinus hypoplasia, 4 maxillary sinus hypoplasia associated to concha bullosa, and 10 isolated conchae bullosas. All cases were evaluated by nasosinusal endoscopy and CT scan. Size, location and uni/bilateral presentation of concha bullosa is correlated to maxillary sinus hypoplasia presence, specially with regards to uncinate process presence, medial or lateral retraction. The pathogenesis of maxillary sinus hypoplasia is reviewed, and its relation to concha bullosa, evaluating how this could explain some cases of the so called chronic maxillary sinus atelectasia, as an acquired and progressive variant of maxillary sinus hypoplasia in adults. PMID:11428268

  14. 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.

  15. Aortic dissection presenting as gait disturbance: a case report.

    PubMed

    Estreicher, Michael; Portale, Joseph; Lopez, Bernard

    2013-01-01

    Emergency medicine dogma traditionally teaches that aortic dissection presents as tearing chest pain, radiating to the back. This case report describes a 55-year-old woman presenting with a left homonymous hemianopsia and resultant gait disturbance. Initial head computed tomography demonstrated a right parietal infarct, and chest radiograph demonstrated a markedly widened mediastinum. Acute Stanford type A aortic dissection was subsequently confirmed. This report provides further evidence for atypical, painless presentations of aortic dissection. Given recent literature on the increasing prevalence of painless dissection, the disease entity should be included in the differential diagnosis for stroke, and a simple portable chest x-ray should always be obtained before administering thrombolytics.

  16. Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

    PubMed

    Balasubramanian, M; Shield, J P H; Acerini, C L; Walker, J; Ellard, S; Marchand, M; Polak, M; Vaxillaire, M; Crolla, J A; Bunyan, D J; Mackay, D J G; Temple, I K

    2010-02-01

    Congenital pancreatic hypoplasia is a rare cause of neonatal diabetes. We report on a series of three patients with pancreatic agenesis and congenital heart defects. All had abdominal scan evidence of pancreatic agenesis. In addition, Patient 1 had a ventricular septal defect, patent ductus arteriosus and pulmonary artery stenosis; Patient 2 had a truncus arteriosus and Patient 3 had tetralogy of Fallot. Two of the three patients have developmental delay. All three patients were isolated cases within the family. Investigations included sequencing of GCK, ABCC8, IPF1, NEUROD1, PTF1A, HNF1B, INS, ISL1, NGN3, HHEX, G6PC2, TCF7L2, SOX4, FOXP3 (Patients 1 and 2), GATA4 and KCNJ11 genes (all three patients), but no mutations were found. Genetic investigation to exclude paternal UPD 6, methylation aberrations and duplications of 6q24 was also negative in all three. 22q11 deletion was excluded in all three patients. Array CGH in Patient (1) showed a approximately 250 kb, paternally inherited duplication of chromosome 12q [arr cgh 12q24.33 (B35:CHR12:131808577-132057649++) pat], not found in the other two patients. Permanent neonatal diabetes mellitus due to pancreatic hypoplasia with congenital heart defects has been reported before and may represent a distinct condition. We discuss this rare association and review previously reported literature. PMID:20082465

  17. Acute Aortic Occlusion Presenting as Flaccid Paraplegia

    PubMed Central

    Kilany, Ayman; Al-Hashel, Jasem Y.; Rady, Azza

    2015-01-01

    A 67-year-old male known to be hypertensive and diabetic had a sudden onset of severe low back pain and flaccid paraplegia with no sensory level or bladder affection and the distal pulsations were felt. Acute compressive myelopathy was excluded by MRI of the dorsal and lumbar spines. The nerve conduction study and CSF analysis was suggestive of acute demyelinating polyneuropathy. The patient developed ischemic changes of the lower limb and CT angiography revealed severe stenosis of the abdominal aorta and both common iliac arteries. We emphasize the importance of including acute aortic occlusion in the differential diagnosis of acute flaccid paraplegia especially in the presence of severe back pain even if the distal pulsations were felt. PMID:25866688

  18. Acute aortic occlusion presenting as flaccid paraplegia.

    PubMed

    Kilany, Ayman; Al-Hashel, Jasem Y; Rady, Azza

    2015-01-01

    A 67-year-old male known to be hypertensive and diabetic had a sudden onset of severe low back pain and flaccid paraplegia with no sensory level or bladder affection and the distal pulsations were felt. Acute compressive myelopathy was excluded by MRI of the dorsal and lumbar spines. The nerve conduction study and CSF analysis was suggestive of acute demyelinating polyneuropathy. The patient developed ischemic changes of the lower limb and CT angiography revealed severe stenosis of the abdominal aorta and both common iliac arteries. We emphasize the importance of including acute aortic occlusion in the differential diagnosis of acute flaccid paraplegia especially in the presence of severe back pain even if the distal pulsations were felt. PMID:25866688

  19. Micropenis and congenital adrenal hypoplasia.

    PubMed

    Bourgeois, M J; Jones, B; Waagner, D C; Dunn, D

    1989-01-01

    Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.

  20. Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

    PubMed Central

    Lal, Karmoon; Mumtaz, Sara; Rehman, Attiq-ur-; Bibi, Maryam; Pervin, Zahida; Malik, Sajid

    2014-01-01

    Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and thenar weakness, while the postaxial digits were least affected. According to the classification of hypoplastic thumb by Blauth and Schneider-Sickert (1981), the phenotypes were concordant with types 3 and 4. In one of the subjects there was contralateral preaxial polydactyly. All cases were sporadic and nonsyndromic and parental consanguinity was witnessed in two individuals. Recurrent appearance of similar phenotypes may suggest genetic etiologies which should be elucidated with the help of high-throughput genetic methods. PMID:25674153

  1. Type A aortic dissection presenting as superior vena cava syndrome.

    PubMed

    Raja, Faisal S; Islam, Ali; Khan, Mustafa; Abbasi, Iram

    2013-01-01

    A 51-year-old man presented with a 5-day history of progressive facial swelling, sensation of head fullness, increasing shortness of breath and paroxysmal nocturnal dyspnea. He denied chest pain, syncope or presyncope. Past medical history included mechanical aortic valve replacement 7 years prior and atrial fibrillation treated with warfarin. A clinical diagnosis of acute superior vena cava (SVC) syndrome was made. Portable chest radiograph showed a widened superior mediastinum. Computed tomography scan of the thorax demonstrated a large type A aortic dissection almost completely effacing the SVC. Acute type A aortic dissection (AD) is an emergency requiring prompt diagnosis and treatment. Patients typically present with acute onset of chest and/or back pain, classically described as "ripping" or "tearing." SVC syndrome is rarely, if ever, mentioned as a presentation, as it is usually due to more chronic conditions. This case illustrates a rare incidence of type A AD actually presenting as SVC syndrome.

  2. Cerebellar Hypoplasia

    MedlinePlus

    ... disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or ...

  3. DOCK8 deficiency in a boy who presented with a giant aortic aneurysm between aortic root and iliac bifurcation.

    PubMed

    Patıroğlu, Türkan; Akar, Himmet Haluk; Doğan, Mehmet Sait; Üzüm, Kazım

    2016-06-01

    Dedicator of cytokinesis 8 protein (DOCK8) deficiency is an autosomal recessive, inherited form of hyper-immunoglobulin E (hyper-IgE) syndrome, characterized by persistent cutaneous viral infections, elevated IgE, eosinophilia, and allergic manifestations. The case of a 10-year-old boy who presented with giant aortic aneurysm between the aortic root and iliac bifurcation is described in the present report. Aortic aneurysm of this size has not yet been reported. PMID:27372622

  4. 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. PMID:23500598

  5. Unicuspid aortic valve presenting with cardiac arrest in an adolescent.

    PubMed

    Connelly, Tara; Kolcow, Walenty; Smyth, Yvonne; Veerasingham, David

    2015-07-15

    Unicuspid aortic valve (UAV) is a rare congenital anomaly typically affecting patients in their fourth and fifth decades and presenting with signs of heart failure. Our case is one of a previously asymptomatic teenage girl with a UAV, who presented with cardiac arrest and was successfully treated. Only two other similar cases have been reported in the literature, both were of slightly older male patients. Our case highlights the morbidity associated with the anomaly supporting the need for careful assessment of the valve in cases where UAV is suspected.

  6. Giant Aortic Root Aneurysm Presenting as Acute Type A Aortic Dissection.

    PubMed

    Raz, Guy M; Stamou, Sotiris C

    2014-06-01

    A 49-year-old woman with four months of increasing episodic palpitations, chest pain, and shortness of breath presented to an outside clinic where a new 4/6 systolic ejection murmur was identified. A transthoracic echocardiogram revealed a large aortic root aneurysm. The patient underwent emergent repair of the dissected root aneurysm with a modified Bentall procedure utilizing a #19 St Jude Valsalva mechanical valve conduit. Postoperatively, she required a permanent pacemaker placement. Her echo showed ejection fraction improvement from a preoperative 25% to a postoperative 35%. She was discharged home on postoperative day 7. PMID:26798728

  7. 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.

  8. 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. PMID:26481180

  9. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    PubMed

    Nishimura, G; Haga, Y; Aoki, K; Hasegawa, T

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. PMID:9880644

  10. An atypical presentation of chronic Stanford type A aortic dissection during pregnancy.

    PubMed

    Dong, Xiuhua; Lu, Jiakai; Cheng, Weiping; Wang, Chengbin

    2016-09-01

    Aortic dissection is a rare but devastating disease during pregnancy, usually presenting with sharp pains on the chest or back. We report a pregnant woman suffering from chronic Stanford type A aortic dissection presented with atypical symptoms without pain in the third trimester with markedly dilated aortic root and congestive heart failure, who received concomitant cesarean delivery and aortic repair with good maternal and fetal outcomes. Multidisciplinary approach and tight hemodynamic control are very important. More attention should be paid to those atypical symptoms so as to early identify this scarce but disastrous disease during pregnancy. PMID:27555189

  11. 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.

  12. [Ruptured abdominal aortic aneurysm. A rare form of presentation].

    PubMed

    Rettedal, E A; Vennesland, O

    1993-05-10

    In most cases a ruptured abdominal aortic aneurism is dramatic, with rapid deterioration of the clinical condition of the patient. With abdominal and back pain, pulsatile tumour, and development of bleeding shock the diagnosis is obvious. In some cases the symptoms are not clear and the condition can be misinterpreted. The authors describe a case to illustrate this. A 74 year-old male was admitted to hospital with vague abdominal pain and left inguinal hernia. It later turned out that a ruptured abdominal aortic aneurism was the reason for his symptoms and signs. 14 similar cases are reported in the literature. PMID:8332976

  13. 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. PMID:26228965

  14. Transcatheter aortic valve implantation: past, present and future.

    PubMed

    Keshavarzi, Freidoon; MacCarthy, Philip

    2016-03-01

    Transcatheter aortic valve implantation is one of the most significant technological advances in cardiovascular medicine. It offers a safe alternative in high risk cardiac patients with proven durability, economical viability and survival advantage. Current trials may expand its application in intermediate or low risk groups. PMID:26961440

  15. Bilateral maxillary sinus hypoplasia.

    PubMed

    Khanduri, Sachin; Agrawal, Sumit; Chhabra, Saakshi; 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

  16. Maternal anticonvulsants and optic nerve hypoplasia.

    PubMed Central

    Hoyt, C. S.; Billson, F. A.

    1978-01-01

    Seven patients with optic nerve hypoplasia, born of epileptic mothers, are presented. All the mothers took anticonvulsants during pregnancy. The possibility that maternal anticonvulsant therapy may play a role in the genesis of optic nerve hypoplasia is discussed in the light of what is known about the teratogenicity of these agents. Images PMID:415754

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

    PubMed Central

    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. PMID:25886343

  18. Optic nerve hypoplasia

    PubMed Central

    Kaur, Savleen; Jain, Sparshi; Sodhi, Harsimrat B. S.; Rastogi, Anju; Kamlesh

    2013-01-01

    Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH (65%) than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. (Method of search: MEDLINE, PUBMED). PMID:24082663

  19. Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

    PubMed Central

    Moerman, P; Goddeeris, P; Lauwerijns, J; Van der Hauwaert, L G

    1980-01-01

    Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot. Images PMID:7426208

  20. A case report of persistent fifth aortic arch presenting with severe left ventricular dysfunction.

    PubMed

    Nakashima, Kouki; Oka, Norihiko; Hayashi, Hidenori; Shibata, Miyuki; Kitamura, Tadashi; Itatani, Keiichi; Miyaji, Kagami

    2014-01-01

    According to several previous reports on persistent fifth aortic arch (PFAA), the presentation of the patients was usually either very mild when diagnosed by physical examination including upper body systemic hypertension and systolic murmur, or severe with ductal shock in the neonatal period. In our case, the clinical course was unique with relatively mild narrowing at the distal PFAA and an interrupted fourth aortic arch. It can be classified as medium severity based on the timing of presentation to the hospital. In the present case, severe LV dysfunction suggested sustained narrowing at the junction between the PFAA and the descending aorta and insufficient development of collateral arteries.We experienced a case with PFAA with severe LV dysfunction. These findings suggest another differential diagnosis for severe LV dysfunction in infancy.

  1. 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

    2014-12-01

    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. PMID:25641477

  2. Acquired post-traumatic aortic coarctation presenting as new-onset congestive heart failure: treatment with endovascular repair.

    PubMed

    Thompson, Norris B; Hamidian Jahromi, Alireza; Ballard, David H; Rao, Vyas R; Samra, Navdeep S

    2015-01-01

    Acquired coarctation of the thoracic aorta is a rare phenomenon in adults. The etiology is often idiopathic, but severe stenosis can develop from prior surgery, blunt thoracic aortic injuries, or severe atherosclerotic/atheroembolic disease. Common symptomatic presentations include refractory upper extremity hypertension and new-onset congestive heart failure. We present the case of a 52-year-old man who developed acquired thoracic aortic coarctation 30 years after a blunt trauma and deceleration injuries to the aorta requiring open surgical aortic repair. He presented with poorly controlled hypertension and new-onset heart failure and was treated surgically with endovascular repair.

  3. ALTE and Feeding Intolerance as a Presentation of Double Aortic Arch

    PubMed Central

    Green Golan Mackintosh, Liza; Bynum, Francine

    2016-01-01

    Many children who are admitted to pediatric hospitals with the chief complaint of apparent life-threatening event (ALTE) are, in fact, well appearing by the time the inpatient medical team evaluates the patient. This presents a diagnostic and therapeutic challenge. We describe a case of a six-month-old full-term female presenting with an ALTE and found to have a double aortic arch, a congenital anomaly that usually presents with a more progressive onset of symptoms such as chronic cough, positional stridor, and feeding difficulties. This case highlights the importance of maintaining a broad differential in a patient presenting with findings of tracheoesophageal pathology on clinical exam. PMID:27722004

  4. Chronic contained rupture of an abdominal aortic aneurysm presenting as a Grynfeltt lumbar hernia. A case report.

    PubMed

    Dobbeleir, J; Fourneau, I; Maleux, G; Daenens, K; Vandekerkhof, J; Nevelsteen, A

    2007-06-01

    We report a unique case of chronic contained thoraco-abdominal aneurysm rupture presenting as a Grynfeltt lumbar hernia. A 79-year-old man presented with backpain and a bluish swelling in the left lumbar region in the presence of a non tender aortic aneurysm. CT scan confirmed contained rupture of a type IV thoraco-abdominal aortic aneurysm. The peri-aortic haematoma protruded through the lumbar wall causing a Grynfeltt lumbar hernia. The aneurysm was replaced through a thoraco-phreno-lumbotomy. The patient survived and is doing well six months postoperatively.

  5. 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

  6. Endovascular repair of spontaneous infrarenal aortic dissection presenting as severe lower extremity ischaemia.

    PubMed

    Adam, D J; Roy-Choudhury, S; Bradbury, A W

    2007-12-01

    We report a 90-year old man who presented with severe lower extremity ischaemia due to spontaneous dissection of a non-aneurysmal infrarenal abdominal aorta. The aortic lesion was treated using an aorto-uni-iliac stent-graft with contralateral common iliac artery occlusion and femoro-femoral cross-over bypass. The patient underwent digital amputation and debridement of the foot four weeks post-operatively. At 12 months follow-up, he remains symptom-free with an excluded dissection, patent reconstruction and healed foot.

  7. Focal dermal hypoplasia: a rare case report.

    PubMed

    Srinivas, Sahana M; Hiremagalore, Ravi

    2015-01-01

    Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. PMID:25657436

  8. Chronic complete thrombosis of abdominal aortic aneurysm: an unusual presentation of an unusual complication.

    PubMed

    Pejkic, Sinisa; Opacic, Dragan; Mutavdzic, Perica; Radmili, Oliver; Krstic, Nevena; Davidovic, Lazar

    2015-02-01

    Although mural thrombosis frequently accompanies aneurysmal disease, complete thrombosis is distinctly unusual complication of abdominal aortic aneurysm (AAA). A case study of a patient with chronic, asymptomatic complete thrombosis of a large juxtarenal AAA is presented along with a literature review and discussion of the potential secondary complications, mandating aggressive management of this condition. A 67-year-old man with multiple atherogenic risk factors and unattended complaints consistent with a recent episode of a transient right hemispheric ischemic attack was referred to our clinic with a diagnosis of a thrombosed AAA established by computed tomography. Duplex ultrasonography and aortography confirmed the referral diagnosis and also revealed near occlusion of the left internal carotid artery. The patient underwent a two-stage surgery, with preliminary left-sided carotid endarterectomy followed three days later by an aneurysmectomy and aortobifemoral reconstruction. He had an uncomplicated recovery and was discharged home on postoperative day 7, remaining asymptomatic at the 42-month follow-up. Complete thrombosis is an uncommon presentation of AAA and may be clinically silent. It is frequently associated with other manifestations of generalized atherosclerosis. Radical open repair yields durable result and is the preferred treatment modality.

  9. Platypnea-orthodeoxia syndrome in patients presenting enlarged aortic root: case report and literature review

    PubMed Central

    Townsend, Raquel da Silva; Costa, Ana Lúcia Martins; Gib, Marcelo Cúrcio; Dexheimer Neto, Felippe Leopoldo

    2014-01-01

    We describe herein a case of a patient who, when in orthostatic positions, had severe hypoxemia and ventilatory dysfunction. Although the severity of symptoms required hospitalization in an intensive care setting, the initial tests only identified the presence of enlarged aortic root, which did not explain the condition. The association of these events with an unusual etiology, namely intracardiac shunt, characterized the diagnosis of platypnea-orthodeoxia syndrome. The literature review shows that, with advancing research methods, there was a progressive increase in the identification of this condition, and this association should be part of the differential diagnosis of dyspnea in patients with enlarged aortic root. PMID:25295827

  10. Growth in cartilage-hair hypoplasia.

    PubMed

    Mäkitie, O; Perheentupa, J; Kaitila, I

    1992-02-01

    Cartilage-hair hypoplasia is an osteochondrodysplasia with short-limbed short stature. The cartilage-hair hypoplasia gene is exceptionally prevalent in Finland; more than 100 patients have been identified. We have analyzed the growth of 100 Finnish patients and present cartilage-hair hypoplasia-specific growth charts of height and weight for height. The disproportions were analyzed by sitting height, subischial leg height, sitting height:height ratio, and span-height difference. The stature was short at birth with a mean relative length of -3.0 SD. The median adult height was 131.1 cm (-7.9 SD, range 110.7 to 149.0 cm) for 15 males and 122.5 cm (-7.9 SD, range 103.7 to 137.4 cm) for 20 females. The progression of the growth failure was partly explained by weakness or absence of pubertal growth spurt. Weight for height was above normal median in childhood and increased further at puberty. Most of the adults were overweight. The adults' mean relative head circumference was -0.9 SD. Growth was disturbed both in the limbs and in the spine, more severely in the limbs. Adult height showed no correlation with the midparent height. The charts are useful for assessment of growth, prediction of adult height, detection of superimposed disorders, and evaluation of growth-accelerating therapy. PMID:1542548

  11. 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

  12. 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

  13. Management of aortic graft infections - the present strategy and future perspectives.

    PubMed

    Treska, V; Certik, B; Molacek, J

    2016-01-01

    Aortic graft infections (AGI) are serious complications of open and endovascular types of surgery with an incidence rate of 0.6-3 %. AGI are associated with 30-60 % perioperative mortality and 40-60 % morbidity rate with limb amputation rates between 10 % and 40 %. The economic cost of AGI is substantial. At the time of aortic reconstruction, almost 90 % of patients have one or more predisposing factors for AGI. The diagnosis is based on clinical symptomatology, laboratory markers, microbial cultures, and imaging modalities. The general principle of surgical treatment lies in the removal of infected graft, debridement of infected periprosthetic tissues, and vascular reconstruction by in situ or extra-anatomic bypass with long-term antibiotic therapy. The conservative treatment is used only for selected patients with endograft infection. This review summarizes the current knowledge about the incidence, predisposing factors, etiology, diagnosis, treatment options, and prevention of aortic vascular graft and endograft infections. With the growing number of endovascular procedures we can expect more cases of infected aortic endografts in patients with severe comorbidities in the near future, where the recent radical surgical approach (graft excision, debridement, and new revascularization) cannot be used. Therefore the less invasive, sophisticated and individualized treatment strategies will have to be used in search of the best therapeutic approach to each specific patient (Fig. 4, Ref. 82). PMID:26925740

  14. Unusual congenital aortic anomaly with rare common celiamesenteric trunk variation: MR angiography and digital substraction angiography findings.

    PubMed

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

    2007-01-01

    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. PMID:17468907

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. Endovascular stent graft repair for thoracic aortic aneurysms: the history and the present in Japan.

    PubMed

    Kawaguchi, Satoshi; Shimizu, Hideyuki; Yoshitake, Akihiro; Shimazaki, Taro; Iwahashi, Toru; Ogino, Hitoshi; Ishimaru, Shin; Shigematsu, Hiroshi; Yozu, Ryohei

    2013-01-01

    Stent-grafts for endovascular repair of thoracic aortic aneurysms have been commercially available for more than ten years in the West, whereas, in Japan, a manufactured stent-graft was not approved for the use until March 2008. Nevertheless, endovascular thoracic intervention began to be performed in Japan in the early 1990s, with homemade devices used in most cases. Many researchers have continued to develop their homemade devices. We have participated in joint design and assessment efforts with a stent-graft manufacturer, focusing primarily on fenestrated stent-grafts used in repairs at the distal arch, a site especially prone to aneurysm. In March 2008, TAG (W.L. Gore & Associates, Inc., Flagstaff, Arizona, USA) was approved as a stent graft for the thoracic area first in Japan, which was major turning point in treatment for thoracic aortic aneurysms. Subsequently, TALENT (Medtronic, Inc., Minneapolis, Minnesota, USA) was approved in May 2009, and TX2 (COOK MEDICAL Inc., Bloomington, Indiana, USA) in March 2011. Valiant as an improved version of TALENT was approved in November 2011, and TX2 Proform as an improved version of TX2 began to be supplied in October 2012. These stent grafts are excellent devices that showed good results in Western countries, and marked effectiveness can be expected by making the most of the characteristics of each device. A clinical trial in Japan on Najuta (tentative name) (Kawasumi Labo., Inc., Tokyo, Japan) as a line-up of fenestrated stent grafts that can be applied to distal arch aneurysms showing a high incidence, and allow maintenance of blood flow to the arch vessel was initiated. This trial was completed, and Najuta has just been approved in January of 2013 in Japan, and further development is expected. In the U.S., great efforts have recently been made to develop and manufacture excellent stent grafts for thoracic aneurysms, and rapid progress has been achieved. In particular, in the area of the aortic arch, in which we

  20. Congenital Medial Meniscus Hypoplasia.

    PubMed

    Benedick, Alex; Shiraj, Sahar; Williams, James; Sundaram, Murali; Subhas, Naveen

    2016-05-01

    An 18-year-old man with no prior surgical history presented with left knee pain after sustaining a basketball injury and was diagnosed with transient patellar dislocation. Magnetic resonance imaging was ordered to further assess the extent of injury.

  1. Congenital Medial Meniscus Hypoplasia.

    PubMed

    Benedick, Alex; Shiraj, Sahar; Williams, James; Sundaram, Murali; Subhas, Naveen

    2016-05-01

    An 18-year-old man with no prior surgical history presented with left knee pain after sustaining a basketball injury and was diagnosed with transient patellar dislocation. Magnetic resonance imaging was ordered to further assess the extent of injury. PMID:27064776

  2. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

    PubMed

    Namavar, Yasmin; Barth, Peter G; Kasher, Paul R; van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y; Ferriero, Donna M; Basel-Vanagaite, Lina; Eggens, Veerle R C; Krägeloh-Mann, Ingeborg; De Meirleir, Linda; King, Mary; Graham, John M; von Moers, Arpad; Knoers, Nine; Sztriha, Laszlo; Korinthenberg, Rudolf; Dobyns, William B; Baas, Frank; Poll-The, Bwee Tien

    2011-01-01

    Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARS2 gene. In order to delineate the neuroradiological and clinical phenotype of patients with mutations in these genes, we compared this group with 63 patients suspected of pontocerebellar hypoplasia who were negative on mutation analysis. We found a strong correlation (P < 0.0005) between TSEN54 mutations and a dragonfly-like cerebellar pattern on magnetic resonance imaging, in which the cerebellar hemispheres are flat and severely reduced in size and the vermis is relatively spared. Mutations in TSEN54 are clinically associated with dyskinesia and/or dystonia and variable degrees of spasticity, in some cases with pure generalized spasticity. Nonsense or splice site mutations in TSEN54 are associated with a more severe phenotype of more perinatal symptoms, ventilator dependency and early death. In addition, we present ten new mutations in TSEN54, TSEN2 and RARS2. Furthermore, we show that pontocerebellar hypoplasia type 1 together with elevated cerebrospinal fluid lactate may be caused by RARS2 mutations.

  3. Marrow hypoplasia associated with congenital neurologic anomalies in two siblings.

    PubMed

    Drachtman, R; Weinblatt, M; Sitarz, A; Gold, A; Kochen, J

    1990-10-01

    Two siblings with congenital neurologic structural anomalies and delayed-onset selective bone marrow hypoplasia in a previously undescribed constellation of symptoms are presented. Differences between these cases and other well known syndromes are discussed. The importance of this association is the implication that children with congenital neurologic abnormalities may be at increased risk for the development of hypoplastic hematopoietic conditions. PMID:2264478

  4. Conservative Management of Chronic Aortic Dissection with Underlying Aortic Aneurysm

    PubMed Central

    Yusuf Beebeejaun, Mohammad; Malec, Aleksandra; Gupta, Ravi

    2013-01-01

    Aortic dissection is one of the most common aortic emergencies affecting around 2000 Americans each year. It usually presents in the acute state but in a small percentage of patients aortic dissections go unnoticed and these patients survive without any adequate therapy. With recent advances in medical care and diagnostic technologies, aortic dissection can be successfully managed through surgical or medical options, consequently increasing the related survival rate. However, little is known about the optimal long-term management of patients suffering from chronic aortic dissection. The purpose of the present report is to review aortic dissection, namely its pathology and the current diagnostic tools available, and to discuss the management options for chronic aortic dissection. We report a patient in which chronic aortic dissection presented with recurring episodes of vomiting and also discuss the management plan of our patient who had a chronic aortic dissection as well as an underlying aortic aneurysm. PMID:24179638

  5. Murine aortic smooth muscle cells acquire, though fail to present exogenous protein antigens on major histocompatibility complex class II molecules.

    PubMed

    Maddaluno, Marcella; MacRitchie, Neil; Grassia, Gianluca; Ialenti, Armando; Butcher, John P; Garside, Paul; Brewer, James M; Maffia, Pasquale

    2014-01-01

    In the present study aortic murine smooth muscle cell (SMC) antigen presentation capacity was evaluated using the Eα-GFP/Y-Ae system to visualize antigen uptake through a GFP tag and tracking of Eα peptide/MHCII presentation using the Y-Ae Ab. Stimulation with IFN-γ (100 ng/mL) for 72 h caused a significant (P < 0.01) increase in the percentage of MHC class II positive SMCs, compared with unstimulated cells. Treatment with Eα-GFP (100 μg/mL) for 48 h induced a significant (P < 0.05) increase in the percentage of GFP positive SMCs while it did not affect the percentage of Y-Ae positive cells, being indicative of antigen uptake without its presentation in the context of MHC class II. After IFN-γ-stimulation, ovalbumin- (OVA, 1 mg/mL) or OVA323-339 peptide-(0.5 μg/mL) treated SMCs failed to induce OT-II CD4(+) T cell activation/proliferation; this was also accompanied by a lack of expression of key costimulatory molecules (OX40L, CD40, CD70, and CD86) on SMCs. Finally, OVA-treated SMCs failed to induce DO11.10-GFP hybridoma activation, a process independent of costimulation. Our results demonstrate that while murine primary aortic SMCs express MHC class II and can acquire exogenous antigens, they fail to activate T cells through a failure in antigen presentation and a lack of costimulatory molecule expression.

  6. Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita

    PubMed Central

    Chung, Stephanie T.; Chi, Carolyn H.; Haymond, Morey W.; Jeha, George S.

    2015-01-01

    Context X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically present in early infancy with adrenal insufficiency and growth is usually normal once medical therapy is instituted. Here we report the first case of growth hormone deficiency in an infant with AHC and a novel NROB1 missense mutation. Case A two-week old infant presented with salt-losing adrenal crises and a normal newborn screen. Tests of adrenal function confirmed adrenal hypoplasia congenita and molecular evaluation revealed a novel missense NROB1 mutation. Replacement steroid therapy was promptly initiated, but he subsequently developed growth failure despite optimal nutritional and medical steroid therapy. Further biochemical analyses confirmed isolated idiopathic growth hormone deficiency. Conclusions Growth failure in adequately treated infants with adrenal hypoplasia congenita is rare and the role of DAX-1 in the development of pituitary somatotropes is not known. There is variable genotype-phenotype correlation in X-linked adrenal hypoplasia congenita but novel NROB1 missense mutations could offer insight into the function of the various DAX-1 ligand-binding domains. PMID:27110597

  7. Aortic Annular Enlargement during Aortic Valve Replacement

    PubMed Central

    Dumani, Selman; Likaj, Ermal; Dibra, Laureta; Llazo, Stavri; Refatllari, Ali

    2016-01-01

    In the surgery of aortic valve replacement is always attempted, as much as possible, to implant the larger prosthesis with the mains goals to enhance the potential benefits, to minimise transvalvular gradient, decrease left ventricular size and avoid the phenomenon of patient-prosthesis mismatch. Implantation of an ideal prosthesis often it is not possible, due to a small aortic annulus. A variety of aortic annulus enlargement techniques is reported to avoid patient-prosthesis mismatch. We present the case that has submitted four three times open heart surgery. We used Manouguian technique to enlarge aortic anulus with excellent results during the fourth time of surgery. PMID:27703574

  8. Is vertebral artery hypoplasia a predisposing factor for posterior circulation cerebral ischemic events? A comprehensive review.

    PubMed

    Katsanos, Aristeidis H; Kosmidou, Maria; Kyritsis, Athanassios P; Giannopoulos, Sotirios

    2013-01-01

    Vertebral artery hypoplasia is not currently considered an independent risk factor for stroke. Emerging evidence suggest that vertebral artery hypoplasia may contribute to posterior circulation ischemic events, especially when other risk factors coexist. In the present literature review, we present published data to discuss the relationship between a hypoplastic vertebral artery and posterior circulation cerebral ischemia. Despite difficulties and controversies in the accurate definition and prevalence estimation of vertebral artery hypoplasia, ultrasound studies reveal that the reduced blood flow observed ipsilateral to the hypoplastic vertebral artery may result in local cerebral hypoperfusion and subsequent focal neurological symptomatology. That risk of cerebral ischemia is related to the severity of the hypoplasia, suggesting that the smaller of paired arteries are more vulnerable to occlusion. Existing cohort studies further support clinical observations that hypoplastic vertebral artery enhances synergistically the vascular risk for posterior circulation ischemic events and is closely associated with both atherosclerotic and prothrombotic processes.

  9. Isolated Left Ventricular Apical Hypoplasia: Reporting a Case With Mild Manifestations and Different Echocardiography Features

    PubMed Central

    Mirdamadi, Ahmad; Ashrafi, Samira

    2016-01-01

    Introduction Isolated left ventricular apical hypoplasia is an unusual type of cardiomyopathy that presents with different clinical manifestations according to the age of the disease, ranging from no symptoms in children to congestive heart failure, pulmonary edema, or even malignant tachycardia in adults. To our knowledge, only a few cases of isolated left ventricular apical hypoplasia have been reported in Asian adults. Case Presentation Herein, we described an adult case of isolated left ventricular apical hypoplasia referred to our heart center in Isfahan, Iran in 2015 with a complaint of mild dyspnea with the absence of obvious fatty tissue in the heart’s apex and an absence of any shunt, which are common findings in patients with this phenomenon. Conclusions Patients faced with isolated left ventricular apical hypoplasia should be monitored by echocardiography because of this disease’s possible progressive trend to life-threatening consequences. PMID:27800175

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

    PubMed

    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

  11. 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

  12. Acute aortic syndrome

    PubMed Central

    2016-01-01

    Acute aortic syndrome (AAS) is a term used to describe a constellation of life-threatening aortic diseases that have similar presentation, but appear to have distinct demographic, clinical, pathological and survival characteristics. Many believe that the three major entities that comprise AAS: aortic dissection (AD), intramural hematoma (IMH) and penetrating aortic ulcer (PAU), make up a spectrum of aortic disease in which one entity may evolve into or coexist with another. Much of the confusion in accurately classifying an AAS is that they present with similar symptoms: typically acute onset of severe chest or back pain, and may have similar radiographic features, since the disease entities all involve injury or disruption of the medial layer of the aortic wall. The accurate diagnosis of an AAS is often made at operation. This manuscript will attempt to clarify the similarities and differences between AD, IMH and PAU of the ascending aorta and describe the challenges in distinguishing them from one another. PMID:27386405

  13. Acute aortic syndrome.

    PubMed

    Corvera, Joel S

    2016-05-01

    Acute aortic syndrome (AAS) is a term used to describe a constellation of life-threatening aortic diseases that have similar presentation, but appear to have distinct demographic, clinical, pathological and survival characteristics. Many believe that the three major entities that comprise AAS: aortic dissection (AD), intramural hematoma (IMH) and penetrating aortic ulcer (PAU), make up a spectrum of aortic disease in which one entity may evolve into or coexist with another. Much of the confusion in accurately classifying an AAS is that they present with similar symptoms: typically acute onset of severe chest or back pain, and may have similar radiographic features, since the disease entities all involve injury or disruption of the medial layer of the aortic wall. The accurate diagnosis of an AAS is often made at operation. This manuscript will attempt to clarify the similarities and differences between AD, IMH and PAU of the ascending aorta and describe the challenges in distinguishing them from one another. PMID:27386405

  14. A novel PITX2 mutation causing iris hypoplasia

    PubMed Central

    Kimura, Masashi; Tokita, Yoshihito; Machida, Junichiro; Shibata, Akio; Tatematsu, Tadashi; Tsurusaki, Yoshinori; Miyake, Noriko; Saitsu, Hirotomo; Miyachi, Hitoshi; Shimozato, Kazuo; Matsumoto, Naomichi; Nakashima, Mitsuko

    2014-01-01

    Iris hypoplasia (IH) is rare autosomal dominant disorder characterized by a poorly developed iris stroma and malformations of the eyes and umbilicus. This disorder is caused by mutation of the paired-like homeodomain 2 (PITX2) gene. Here, we describe a novel PITX2 mutation (c.205C>T) in an IH family presenting with very mild eye features but with tooth agenesis as the most obvious clinical feature. PMID:27081499

  15. Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue.

    PubMed

    del Carmen Boente, María; Asial, Raúl A; Winik, Beatriz C

    2007-02-01

    We followed over 10 years three girls with focal dermal hypoplasia syndrome. The histopathological changes demonstrated at the optical level an hypoplastic dermis with thin and scarce collagen bundles and a marked diminution of elastic fibers. Mature adipose tissue was found scattered within the papillary and reticular dermis. No alterations in the basal membrane were observed by immunocytochemical or ultrastructural techniques. Ultrastructurally, in the skin-affected areas, loosely arranged collagen bundles composed of few fibrils were seen scattered in the extracellular matrix. Scarce elastic fibers of normal morphology were also observed. Fibroblasts were smaller, oval-shaped, and diminished in number with a poorly developed cytoplasm. In these fibroblasts, the most conspicuous feature was a remarkable and irregular thickening of the nuclear fibrous lamina. Taking into account that a common link between all laminopaties may be a failure of stem cells to regenerate mesenchymal tissue, this failure would induce the dermal hypoplasia observed in our patients presenting Goltz syndrome.

  16. 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

  17. Para-aortic lymphocyst.

    PubMed

    Helmkamp, B F; Krebs, H B; Isikoff, M B; Poliakoff, S R; Averette, H E

    1980-10-15

    Although numerous articles regarding the etiology, incidence, complications, and management of pelvic lymphocysts have been published in the American literature since 1958, there has been no mention of para-aortic lymphocyst as a complication of para-aortic node dissection. Two recent cases of symptomatic para-aortic lymphocyst have prompted a review of our para-aortic node dissection technique when this procedure is not combined with a more extensive pelvic lymphadenectomy. Our modification in technique is to use retroperitoneal para-aortic drainage by constant pressure-controlled suction following closure of the posterior parietal peritoneum, and the results in our first 15 patients are presented. There were no complications related to the drainage technique. Abdominal ultrasound and intravenous urography have proved to be excellent diagnostic tools in the initial evaluation and subsequent follow-up of para-aortic lymphocytes.

  18. 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.

  19. 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. PMID:23124196

  20. [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. PMID:27580437

  1. Novel PORCN mutations in focal dermal hypoplasia.

    PubMed

    Froyen, G; Govaerts, K; Van Esch, H; Verbeeck, J; Tuomi, M-L; Heikkilä, H; Torniainen, S; Devriendt, K; Fryns, J-P; Marynen, P; Järvelä, I; Ala-Mello, S

    2009-12-01

    Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.

  2. 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.

  3. Right Aortic Arch and Coarctation: A Rare Association

    PubMed Central

    Ismat, Fraz A.; Weinberg, Paul M.; Rychik, Jack; Karl, Tom R.; Fogel, Mark A.

    2006-01-01

    Objectives Understand anatomical and clinical correlatives to coarctation in right aortic arch. Background Coarctation of the aorta is rare in patients with a functional right aortic arch. We reviewed a single institutional experience, examining associated diagnoses, diagnostic methodology, and surgical approaches. Methods A retrospective study was performed of our echocardiographic, magnetic resonance imaging, catheterization, and surgical databases from 1988 to 2001. Results Of 240 patients with right aortic arch, 10 (4.1%) had coarctation, constituting 1.9% of all native coarctations (n = 524). Nine (90%) had long-segment hypoplasia. Six (60%) had an aberrant left subclavian artery or retroesophageal diverticulum, 3 (30%) had mirror image branching, and 1 (10%) had a double arch with an atretic left arch. Other congenital heart defects were seen in 6 (60%) comprising 3 with ventricular septal defects, and one each with double-outlet right ventricle, cor triatriatum, and pulmonary valve abnormality. No patients with long-segment hypoplasia had bicuspid aortic valve. Six (60%) had vascular rings, and 5 (50%) had other associated syndromes. Magnetic resonance imaging and/or echocardiography successfully diagnosed all of these patients. Although long-segment right aortic arch coarctation courses behind the trachea posteriorly, only 2 needed an extra-anatomic (jump) graft; the remainders were repaired with patch angioplasty. Conclusion Coarctation with right aortic arch is rare, constituting 4.1% of all patients with right aortic arch, compared with 5–8% of patients with left aortic arch and congenital heart disease. Nearly all had long-segment hypoplasia without bicuspid aortic valve, and half were part of other syndrome complexes. This association can be diagnosed noninvasively and can often be repaired by patch angioplasty. PMID:17330153

  4. A right-sided aortic arch with Kommerell's diverticulum of the aberrant left subclavian artery presenting with syncope.

    PubMed

    Yang, Ming-Hsun; Weng, Zen-Chung; Weng, Yu-Guo; Chang, Hsiao-Huang

    2009-05-01

    A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch. Fewer than 50 cases have been reported in the literature. A number of operative strategies are described. Right thoracotomy provides good exposure and avoids the morbidity associated with bilateral thoracotomy or sternotomy and thoracotomy. In our patient with symptoms of dysphagia, syncope, and left subclavian steal syndrome, a left thoracotomy was used. The repair was accomplished by division of a left ligamentum arteriosum, obliteration of the Kommerell's aneurysm, and an aorto-subclavian bypass. Postoperative complications included left vocal cord palsy and Horner's syndrome. Hoarseness and left ptosis recovered spontaneously 3 months after surgery, and the patient remained symptom-free at the 1-year follow-up. We believe a left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method without the increased morbidity found in other procedures.

  5. Linear enamel hypoplasia in the great apes: analysis by genus and locality.

    PubMed

    Hannibal, Darcy Lee; Guatelli-Steinberg, Debbie

    2005-05-01

    Most studies report a high prevalence of linear enamel hypoplasia (LEH) in the great apes relative to other nonhuman primates and some human populations. It is unclear if this difference is a direct result of poor health status for the great apes, or if it represents differential incidence due to a lower threshold (sensu Goodman and Rose, 1990 Am. J. Phys. Anthropol. [suppl.] 33:59-110) for the occurrence of enamel hypoplasia among great apes. This study uses the Smithsonian National Museum of Natural History's great ape collection to examine the prevalence of LEH, the most common type of hypoplasia observed. Frequencies of LEH are reported, as well as analyses by taxa and provenience. The study sample consists of 136 specimens and includes 41 gorillas, 25 chimpanzees, and 70 orangutans. Analyses of frequencies are presented for both individuals and teeth by taxonomic category and locality. Among the individuals in this study, 63.97% are affected by LEH. Overall, gorillas (29.27%) exhibit lower frequencies of LEH than chimpanzees (68.00%) and orangutans (82.86%). There is a marked difference in LEH frequencies between mountain and lowland gorillas. There is no difference in LEH frequencies between Sumatran and Bornean orangutans. A range of variation for the great apes in enamel hypoplasia frequencies is found when taxon and locality are considered. It is likely that both biological and environmental factors influence the high frequencies of enamel hypoplasia exhibited in the great apes.

  6. 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

  7. 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

  8. 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.

  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. PMID:27599287

  10. 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

  11. [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.

  12. 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

  13. 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.

  14. Abdominal aortic aneurysm.

    PubMed

    Keisler, Brian; Carter, Chuck

    2015-04-15

    Abdominal aortic aneurysm refers to abdominal aortic dilation of 3.0 cm or greater. The main risk factors are age older than 65 years, male sex, and smoking history. Other risk factors include a family history of abdominal aortic aneurysm, coronary artery disease, hypertension, peripheral artery disease, and previous myocardial infarction. Diagnosis may be made by physical examination, an incidental finding on imaging, or ultrasonography. The U.S. Preventive Services Task Force released updated recommendations for abdominal aortic aneurysm screening in 2014. Men 65 to 75 years of age with a history of smoking should undergo one-time screening with ultrasonography based on evidence that screening will improve abdominal aortic aneurysm-related mortality in this population. Men in this age group without a history of smoking may benefit if they have other risk factors (e.g., family history of abdominal aortic aneurysm, other vascular aneurysms, coronary artery disease). There is inconclusive evidence to recommend screening for abdominal aortic aneurysm in women 65 to 75 years of age with a smoking history. Women without a smoking history should not undergo screening because the harms likely outweigh the benefits. Persons who have a stable abdominal aortic aneurysm should undergo regular surveillance or operative intervention depending on aneurysm size. Surgical intervention by open or endovascular repair is the primary option and is typically reserved for aneurysms 5.5 cm in diameter or greater. There are limited options for medical treatment beyond risk factor modification. Ruptured abdominal aortic aneurysm is a medical emergency presenting with hypotension, shooting abdominal or back pain, and a pulsatile abdominal mass. It is associated with high prehospitalization mortality. Emergent surgical intervention is indicated for a rupture but has a high operative mortality rate. PMID:25884861

  15. Hypoplasia, pseudocoarctation and coarctation of the aorta - a systematic review.

    PubMed

    Singh, Sujata; Hakim, Fayaz A; Sharma, Ashwini; Roy, R Raina; Panse, Prasad M; Chandrasekaran, Krishnaswamy; Alegria, Jorge R; Mookadam, Farouk

    2015-02-01

    Aortic arch abnormalities are uncommon and may be seen in association with other congenital cardiac anomalies. Coarctation, pseudocoarctation and hypoplastic aortic arch are known aortic arch abnormalities, with the former being well studied, whilst for the latter two, much less is known. There are similarities and differences that are important to distinguish among these three conditions in order to avoid errors in diagnosis that may result in unnecessary investigations, which may in turn result in physical or emotional harm to the patient. For this reason, we present a systematic review of the published literature providing an evidence-based overview that may be helpful to clinicians when faced with this diagnostic dilemma. PMID:25442062

  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. Genetics, Pregnancy, and Aortic Degeneration.

    PubMed

    Crawford, Jeffrey D; Hsieh, Cindy M; Schenning, Ryan C; Slater, Matthew S; Landry, Gregory J; Moneta, Gregory L; Mitchell, Erica L

    2016-01-01

    We present a case of familial thoracic aortic aneurysm and dissection (FTAAD) in a pregnant female. FTAAD is an inherited, nonsyndromic aortopathy resulting from several genetic mutations critical to aortic wall integrity have been identified. One such mutation is the myosin heavy chain gene (MYH11) which is responsible for 1-2% of all FTAAD cases. This mutation results in aortic medial degeneration, loss of elastin, and reticulin fiber fragmentation predisposing to TAAD. Aortic disease is more aggressive during pregnancy as a result of increased wall stress from hyperdynamic cardiovascular changes and estrogen-induced aortic media degeneration. Our patient was a 29-year-old G2P1 woman at 26 weeks gestation presenting with abdominal and back pain. Work-up revealed a 6.4-cm ascending aortic aneurysm with a type A dissection extending into all arch vessels, aortic coarctation at the isthmus, and a separate focal type B aortic dissection with visceral involvement. Surgical management included concomitant cesarean section with delivery of a live premature infant, tubal ligation, ascending aortic replacement with reconstruction of the arch vessels, and aortic valve resuspension. The type B dissection was managed medically without complication. This is the first reported case of aortic dissection in a patient with FTAAD/MYH11 mutation and pregnancy. This case highlights that FTAAD and pregnancy cause aortic degeneration via distinct mechanisms and that hyperdynamics of pregnancy increase aortic wall stress. Management of pregnancy associated with aortopathy requires early transfer to a tertiary center, careful investigation to identify familial aortopathy, fetal monitoring, and a multidisciplinary team approach. PMID:26381327

  18. Ascending-to-descending aortic bypass and aortic valve replacement for concomitant severe aortic coarctation and aortic stenosis.

    PubMed

    Chu, Michael W A; Adams, Corey; Torres, Pedro

    2011-04-01

    We present a 33-year-old male with severe, symptomatic aortic coarctation and aortic stenosis assessed on a humanitarian medical mission to a developing country. Contemplating limited time and available resources, we performed a simultaneous single-stage approach with ascending-to-descending aortic bypass with a reinforced gortex graft and concomitant aortic valve replacement through a median sternotomy. The patient had an uneventful postoperative convalescence and was discharged on postoperative day 5. At 1-year follow-up, he was asymptomatic and doing well with good blood pressure control and complete equalization of upper and lower limb blood pressure measurements. Computed tomography and transthoracic echocardiography demonstrated a widely patent ascending-to-descending aortic bypass graft and a normally functioning prosthetic aortic valve, respectively. In developing countries where health care resources are limited, a combined approach with an extra-anatomic, thoracic aortic bypass, and aortic valve replacement resulted in good early and 1-year outcomes. This procedure may represent the most effective surgical option for patients with concomitant aortic coarctation and aortic stenosis.

  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. Pulmonary Hypoplasia Associated with Congenital Heart Diseases: A Fetal Study

    PubMed Central

    Ruchonnet-Metrailler, Isabelle; Bessieres, Bettina; Bonnet, Damien; Vibhushan, Shamila; Delacourt, Christophe

    2014-01-01

    Background Abnormalities of the fetal pulmonary vasculature may affect lung morphogenesis. Postnatal studies have suggested that pulmonary hypoplasia (PH) may be associated with congenital heart diseases (CHDs). Objective To determine the prevalence of PH associated with CHDs, and to evaluate whether CHDs with right outflow obstruction were associated with the highest risk of lung growth impairment. Methods Between January 2006 and December 2010, fetuses with CHD obtained following the termination of pregnancies due to fetal abnormalities were examined in a prospective manner for the detection of heart and lung defects. CHDs were classified into five pathophysiological groups. Lung weight (LW), body weight (BW), and LW/BW ratio were analyzed for each case. The expression of CD31 and VEGF in the lung was evaluated by immunohistochemistry. Results Fetuses with CHDs and right outflow obstruction had significantly lower LW for a given BW, and significantly lower LW/BW ratios for a given gestational age. When defining PH as a fetal LW/BW ratio <0.015 before 28 weeks, and <0.012 after 28 weeks, PH was detected in 15 of the 119 fetuses analyzed (13%). It was significantly associated with CHD with right outflow obstruction, independently of chromosomal abnormalities and associated extracardiac abnormalities (p<0.03). Right outflow obstruction was detected in 60% of the fetuses with CHD and PH, but in only 32% of those with CHD but no PH. In fetuses with right outflow obstruction, no difference was observed between those with PH and those without PH, in terms of the ratio of pulmonary artery diameter to aortic diameter, lung CD31 expression, or lung VEGF expression. Conclusion CHDs with right outflow obstruction are a significant risk factor for prenatally acquired PH. The occurrence of fetal PH is not correlated with abnormalities of the pulmonary vasculature, suggesting the involvement of perfusion-independent mechanisms. PMID:24699523

  1. General anesthesia for dental treatment in a Williams syndrome patient with severe aortic and pulmonary valve stenosis: suspected episode of postoperatively malignant hyperthermia.

    PubMed

    Kohase, Hikaru; Wakita, Ryou; Doi, Syozaburoh; Umino, Masahiro

    2007-10-01

    A 28-month-old boy (height, 76 cm; weight, 9.4 kg) diagnosed as having Williams syndrome presented for dental care. We report a case of postoperatively suspected malignant hyperthermia after the administration of general anesthesia for dental treatment in this patient with severe supravalvular aortic stenosis and pulmonary artery hypoplasia. Anesthesia was maintained through the inhalation of nitrous oxide and sevoflurane with oxygen. The patient was hemodynamically stable and no other abnormalities were observed. After the completion of the dental treatment, he was transferred to the pediatric ward. On arrival at the ward, the patient's core temperature increased to 39.5 degrees C and tachypnea (RR, 30 breaths/min) was observed. The SPO2 during inhalation was slightly low (92%-93%). Serum biochemistry revealed an elevated CK level (1345 U/L) but no other abnormal findings. Twelve hours after the dental treatment, the patient's core temperature fell to 37.4 degrees C. After hospitalization for 4 days, the patient was discharged in good condition. In the present case, general anesthesia was employed for dental treatment despite severe supravalvular aortic stenosis and peripheral pulmonary artery hypoplasia, because conventional dental therapy was very difficult as a result of the patient's mental retardation and hyperkinesia. The present case suggests that the use of volatile agents that could trigger malignant hyperthermia should be avoided wherever possible. PMID:17683962

  2. Arterial Stiffness Alterations and Inflammatory Response Following Endovascular Aortic Repair: Based on a Presentation at the 2013 VEITH Symposium, November 19-23, 2013 (New York, NY, USA).

    PubMed

    Moulakakis, Konstantinos G; Mylonas, Spyridon N; Kakisis, John; Kadoglou, Nikolaos P E; Papadakis, Ioannis; Sfyroeras, George S; Antonopoulos, Constantine C N; Mantas, George; Ikonomidis, Ignatios; Liapis, Christos D

    2015-04-01

    Endovascular abdominal aortic aneurysm repair (EVAR) and thoracic aortic aneurysm repair (TEVAR) have been widely incorporated into clinical practice. However, changes in arterial stiffness and post-implantation syndrome after aortic endografting remain important issues under investigation. The aneurysm sac wall motion after successful EVAR and TEVAR reflects complex interactions between all the components of the excluded aneurysm, including true compliance of the aneurysm wall itself, intra-aneurysm sac pressure, remodeling of the thrombus, and mechanical characteristics of the endograft. Experimental and clinical studies have shown that aortic endografting results in increased arterial stiffness in animal models. It can be assumed that the alterations of aortic mechanical properties can have a direct impact on heart output. The long-term impact of these mechanical changes on cardiovascular outcomes and the potential effects of different endografts on hemodynamics are important issues under investigation. Post-implantation syndrome (PIS) is a systemic inflammatory response frequently observed after endovascular treatment of aortic pathologies. The main features of PIS include fever, leukocytosis, elevated C-reactive protein levels, and coagulation disturbances. Endograft design appears to influence this inflammatory response following aortic endografting; woven polyester endografts have been shown to be associated with greater inflammatory response compared to PTFE stent grafts. The purpose of this paper is to review the literature to elucidate arterial stiffness alterations and inflammatory response after EVAR and TEVAR and the impact of endograft design on aortic stiffness and the post-inflammatory response. PMID:26798761

  3. 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...

  4. Spectral domain optical coherence tomography and microperimetry in foveal hypoplasia.

    PubMed

    Pal, Swakshyar Saumya; Gella, Laxmi; Sharma, Tarun; Raman, Rajiv

    2011-01-01

    A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence tomography (SD-OCT), microperimeter and confocal scanning laser ophthalmoscope is described. This case highlights the importance of microperimeter in detecting the functional abnormalities of vision and SD-OCT in identifying the retinal laminar abnormalities in foveal hypoplasia. PMID:22011499

  5. 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.

  6. 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. PMID:26118429

  7. Aortic Aneurysm Statistics

    MedlinePlus

    ... Blood Pressure Salt Cholesterol Million Hearts® WISEWOMAN Aortic Aneurysm Fact Sheet Recommend on Facebook Tweet Share Compartir ... cause of most deaths from aortic aneurysms. Aortic Aneurysm in the United States Aortic aneurysms were the ...

  8. Abdominal Aortic Aneurysm (AAA)

    MedlinePlus

    ... Resources Professions Site Index A-Z Abdominal Aortic Aneurysm (AAA) Abdominal aortic aneurysm (AAA) occurs when atherosclerosis ... aortic aneurysm treated? What is an abdominal aortic aneurysm? The aorta, the largest artery in the body, ...

  9. Double aortic arch

    MedlinePlus

    Aortic arch anomaly; Double arch; Congenital heart defect - double aortic arch; Birth defect heart - double aortic arch ... aorta is a single arch that leaves the heart and moves leftward. In double aortic arch, some ...

  10. 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 ...

  11. Aortic dissection.

    PubMed

    Nienaber, Christoph A; Clough, Rachel E; Sakalihasan, Natzi; Suzuki, Toru; Gibbs, Richard; Mussa, Firas; Jenkins, Michael T; Thompson, Matt M; Evangelista, Arturo; Yeh, James S M; Cheshire, Nicholas; Rosendahl, Ulrich; Pepper, John

    2016-01-01

    Aortic dissection is a life-threatening condition caused by a tear in the intimal layer of the aorta or bleeding within the aortic wall, resulting in the separation (dissection) of the layers of the aortic wall. Aortic dissection is most common in those 65-75 years of age, with an incidence of 35 cases per 100,000 people per year in this population. Other risk factors include hypertension, dyslipidaemia and genetic disorders that involve the connective tissue, such as Marfan syndrome. Swift diagnostic confirmation and adequate treatment are crucial in managing affected patients. Contemporary management is multidisciplinary and includes serial non-invasive imaging, biomarker testing and genetic risk profiling for aortopathy. The choice of approach for repairing or replacing the damaged region of the aorta depends on the severity and the location of the dissection and the risks of complication from surgery. Open surgical repair is most commonly used for dissections involving the ascending aorta and the aortic arch, whereas minimally invasive endovascular intervention is appropriate for descending aorta dissections that are complicated by rupture, malperfusion, ongoing pain, hypotension or imaging features of high risk. Recent advances in the understanding of the underlying pathophysiology of aortic dissection have led to more patients being considered at substantial risk of complications and, therefore, in need of endovascular intervention rather than only medical or surgical intervention. PMID:27440162

  12. Aortic stenting.

    PubMed

    Droc, Ionel; Calinescu, Francisca Blanca; Droc, Gabriela; Blaj, Catalin; Dammrau, Rolf

    2015-01-01

    The approach to aortic pathology is nowadays more and more endovascular at both thoracic and abdominal levels. Thoracic stenting has gained worldwide acceptance as first intention to treat pathologies of the descending thoracic aorta. Indications have been extended to aortic arch aneurysms and also to diseases of the ascending aorta. The current devices in use for thoracic endovascular repair (TEVAR) are Medtronic Valiant, Gore TAG, Cook Tx2 and Jotec. The choice of the endograft depends on the thoracic aortic pathology and the anatomical suitability. The technological evolution of the abdominal aortic endografts was very rapid, arriving now at the fourth generation. We report the results of 55 elective cases of endovascular abdominal aortic repair (EVAR) performed in two vascular surgical centers in Romania and Germany. The prostheses used were 16 E-vita Abdominal XT, 12 Excluder, eight Talent, seven PowerLink, three Endurant and nine custom-made, fenestrated or branched from Jotec. The mean follow-up was 18 months with CT-scan, duplex ultrasound and contrast-enhanced ultrasound. The mortality was 2%. EVAR tends to become the gold standard for abdominal aortic aneurysm repair. Technological development of the devices with lowest profile introduction systems will permit to extend the anatomical indications to new frontiers. PMID:26200430

  13. 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

  14. 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.

  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. Quadricuspid Aortic Valve: A Rare Congenital Cause of Aortic Insufficiency

    PubMed Central

    Vasudev, Rahul; Shah, Priyank; Bikkina, Mahesh; Shamoon, Fayez

    2016-01-01

    Quadricuspid aortic valve (QAV) is a rare congenital cardiac anomaly causing aortic regurgitation usually in the fifth to sixth decade of life. Earlier, the diagnosis was mostly during postmortem or intraoperative, but now with the advent of better imaging techniques such as transthoracic echocardiography, transesophageal echocardiography (TEE), and cardiac magnetic resonance imaging, more cases are being diagnosed in asymptomatic patients. We present a case of a 39-year-old male who was found to have QAV, with the help of TEE, while undergoing evaluation for a diastolic murmur. The patient was found to have Type B QAV with moderate aortic regurgitation. We also present a brief review of classification, pathophysiology, and embryological basis of this rare congenital anomaly. The importance of diagnosing QAV lies in the fact that majority of these patients will require surgery for aortic regurgitation and close follow-up so that aortic valve replacement/repair is done before the left ventricular decompensation occurs. PMID:27195176

  17. Surgical repair for aortic dissection accompanying a right-sided aortic arch.

    PubMed

    Obitsu, Yukio; Koizumi, Nobusato; Iwahashi, Toru; Saiki, Naozumi; Shigematsu, Hiroshi

    2010-01-01

    Aortic anomaly in which a right-sided aortic arch associated with Kommerell's diverticulum and aberrant left subclavian artery is rare. The present report describes a patient with type-B aortic dissection accompanying aortic anomalies consisting of right-sided aortic arch and the left common carotid and left subclavian artery arising from Kommerell's diverticulum. As dissecting aortic aneurysm diameter increased rapidly, Single-stage surgical repair of extensive thoracic aorta was performed through median sternotomy and right posterolateral fifth intercostal thoracotomy, yielding favorable results. Our surgical procedures are discussed.

  18. Surgical repair for aortic dissection accompanying a right-sided aortic arch

    PubMed Central

    2010-01-01

    Aortic anomaly in which a right-sided aortic arch associated with Kommerell's diverticulum and aberrant left subclavian artery is rare. The present report describes a patient with type-B aortic dissection accompanying aortic anomalies consisting of right-sided aortic arch and the left common carotid and left subclavian artery arising from Kommerell's diverticulum. As dissecting aortic aneurysm diameter increased rapidly, Single-stage surgical repair of extensive thoracic aorta was performed through median sternotomy and right posterolateral fifth intercostal thoracotomy, yielding favorable results. Our surgical procedures are discussed. PMID:20459743

  19. Traumatic aortic regurgitation combined with descending aortic pseudoaneurysm secondary to blunt chest trauma.

    PubMed

    Kim, Siho; Park, Joon Suk; Yoo, Seung Min; Kim, Kyung Ho; Yang, Woo-In; Sung, Jung-Hoon; Kim, In Jai; Lim, Sang-Wook; Cha, Dong-Hun; Moon, Jae-Youn

    2014-09-23

    Rupture of the aorta is a relatively rare complication of blunt chest trauma, and traumatic rupture of the aortic valve is even rarer. Even though both result from blunt chest trauma, the causative mechanisms of aortic valve injury differ from those of descending aortic rupture. There are no previous reports in the literature of simultaneous injuries to both the descending aorta and the aortic valve. We report a case of a 70-year-old man who presented with traumatic aortic regurgitation combined with traumatic pseudoaneurysm of the aortic isthmus following blunt chest trauma, and its successful repair with a hybrid surgical strategy.

  20. Successful management of para-aortic lymphocyst with laparoscopic fenestration.

    PubMed

    Sarli, L; Cortellini, P; Pavlidis, C; Simonazzi, M; Sebastio, N

    2000-04-01

    Para-aortic lymphocyst occasionally follows retroperitoneal para-aortic node dissection for neoplastic diseases. We present a case in which the leakage of chylous fluid and then a para-aortic lymphocyst followed right nephrectomy and para-aortic node dissection for kidney cancer. Our method of treatment utilized conservative management of chylous ascites and laparoscopic internal drainage of the retroperitoneal lymphocyst.

  1. 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

  2. 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

  3. Contemporary management of aortic stenosis: surgical aortic valve replacement remains the gold standard.

    PubMed

    Walther, Thomas; Blumenstein, Johannes; van Linden, Arnaud; Kempfert, Jörg

    2012-11-01

    Aortic valve disease is the most frequent acquired heart valve lesion in humans. In western communities, approximately 90% of patients present with aortic stenosis (AS), predominantly of a calcific degenerative aetiology. The remaining approximately 10% of patients predominantly present with aortic valve incompetence.

  4. 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. PMID:24265573

  5. 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

  6. Thoracic aortic aneurysms and pregnancy.

    PubMed

    Coulon, Capucine

    2015-11-01

    Half of acute aortic dissection in women under the age of 40 occurs during pregnancy or peripartum period. Marfan syndrome is the most common syndromic presentation of ascending aortic aneurysm, but other syndromes such as vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Turner syndrome also have ascending aortic aneurysms and the associated cardiovascular risk of aortic dissection and rupture. Management of aortic root aneurysm has been established in recent recommendations, even if levels of evidence are weak. Pregnancy and postpartum period should be followed very closely and determined to be at high risk. Guidelines suggest that women with aortopathy should be counseled against the risk of pregnancy and about the heritable nature of the disease prior to pregnancy.

  7. Thoracic aortic aneurysms and pregnancy.

    PubMed

    Coulon, Capucine

    2015-11-01

    Half of acute aortic dissection in women under the age of 40 occurs during pregnancy or peripartum period. Marfan syndrome is the most common syndromic presentation of ascending aortic aneurysm, but other syndromes such as vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Turner syndrome also have ascending aortic aneurysms and the associated cardiovascular risk of aortic dissection and rupture. Management of aortic root aneurysm has been established in recent recommendations, even if levels of evidence are weak. Pregnancy and postpartum period should be followed very closely and determined to be at high risk. Guidelines suggest that women with aortopathy should be counseled against the risk of pregnancy and about the heritable nature of the disease prior to pregnancy. PMID:26454306

  8. Endovascular aortic aneurysm operations.

    PubMed

    Najibi, Sasan; Terramani, Thomas T; Weiss, Victor J; Smith, Robert B; Salam, Atef A; Dodson, Thomas F; Chaikof, Elliot L; Lumsden, Alan B

    2002-02-01

    Options for the treatment of abdominal and thoracic aortic aneurysms are in a state of evolutionary change. The development and continued refinement of the endoluminal approaches has decreased the need for open aortic aneurysm surgery. Endovascular stent graft technology is an area of active research in which both the delivery systems and the endografts are undergoing continued improvement so that patients with what was previously thought to be unfavorable anatomy may be treated by these means. The design and deployment techniques of the currently available endografts, as well as those in clinical trials, are presented. PMID:11822962

  9. [Aortic aneurysm].

    PubMed

    Villar, Fernando; Pedro-Botet, Juan; Vila, Ramón; Lahoz, Carlos

    2013-01-01

    Aortic aneurysm is one important cause of death in our country. The prevalence of abdominal aortic aneurism (AAA) is around 5% for men older than 50 years of age. Some factors are associated with increased risk for AAA: age, hypertension, hypercholesterolemia, cardiovascular disease and, in particular, smoking. The medical management of patients with an AAA includes cardiovascular risk treatment, particularly smoking cessation. Most of major societies guidelines recommend ultrasonography screening for AAA in men aged 65 to 75 years who have ever smoked because it leads to decreased AAA-specific mortality. PMID:24238836

  10. Thoracic endovascular aortic repair for blunt thoracic aortic injuries in complex aortic arch vessels anatomies.

    PubMed

    Piffaretti, Gabriele; Carrafiello, Gianpaolo; Ierardi, Anna Maria; Mariscalco, Giovanni; Macchi, Edoardo; Castelli, Patrizio; Tozzi, Matteo; Franchin, Marco

    2015-08-01

    The aim of this study is to report the use of thoracic endovascular aortic repair (TEVAR) in blunt thoracic aortic injuries (BTAIs) presenting with complex anatomies of the aortic arch vessels. Two patients were admitted to our hospital for the management of BTAI. Anomalies were as follow: aberrant right subclavian artery (n = 1) and right-sided aortic arch with 5 vessels anatomy variant (n = 1). TEVAR was accomplished using parallel graft with periscope configuration in the patient with the aberrant right subclavian artery. At 12-month follow-up, computed tomography angiographies confirmed the exclusion of the BTAI, the stability of the endograft, the resolution of the pseudoaneurysm, and the patency of the parallel endograft. Aortic arch vessels variants and anomalies are not rare, and should be recognized and studied precisely to plan the most appropriate operative treatment. TEVAR proved to be effective even in complex anatomies.

  11. [Evaluation of the diagnostic usefulness for ultrasonographic and echocardiographic lethal markers in fetal pulmonary hypoplasia. Analysis of 11 cases].

    PubMed

    Kieszek, S; Kaczmarek, P; Czichos, E; Respondek, M

    1996-07-01

    Results of ultrasonographic and echocardiographic studies of 11 fetuses were analysed retrospectively in relation to their pulmonary hypoplasia. Congenital malformations, quality of hydramnios and echocardiographical measurements of fetal chest were estimated. The best symptoms of pulmonary hypoplasia were: oligo/ahydramnios, absence of fetal breathing movements and malformations in fetal chest cavity (diaphragmatic hernia, cardiomegaly, hydrothorax). Systemic malformations were present in each case. The measurements such as CC, CA, HA, (CA-HA) x 100/CA were not accurate enough and we did not find any statistical differences between the control and the studied group. Finding several factors predisposing to lung hypoplasia means that its lethal form may be present in fetus. PMID:9138996

  12. 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.

  13. 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

  14. Oral rehabilitation for a patient with oligodontia and maxillary hypoplasia

    PubMed Central

    Chung, Da-Woon; Vang, Mong-Sook; Park, Sang-Won; Lim, Hyun-Pil

    2009-01-01

    An 18 year old female with oligodontia and maxillary hypoplasia was treated using an interdisciplinary team approach involving orthodontists, maxillofacial surgeons and prosthodontists. Full mouth one-piece fixed partial dentures were the final restoration. The fixed partial dentures fabricated for the maxilla and mandible using the concept of a shortened dental arch resulted in improved esthetics and the masticatory function. This paper describes the treatment procedures for an oligodontia patient with alveolar bone hypoplasia. PMID:21165248

  15. Unilateral hypoplasia with contralateral hypertrophy of anterior belly of digastric muscle: a case report.

    PubMed

    Ochoa-Escudero, Martin; Juliano, Amy F

    2016-10-01

    Anomalies of the anterior belly of the digastric muscle (DM) are uncommon. We present a case of hypoplasia of the anterior belly of the left DM with hypertrophy of the anterior belly of the contralateral DM. The importance of recognizing this finding is to differentiate hypoplasia of the anterior belly of the DM from denervation atrophy, and not to confuse contralateral hypertrophy with a submental mass or lymphadenopathy. In denervation atrophy of the anterior belly of the DM, associated atrophy of the ipsilateral mylohyoid muscle is present. Hypertrophy of the anterior belly of the contralateral DM can be differentiated from a submental mass or lymphadenopathy by recognizing its isodensity on computed tomography and isointensity on magnetic resonance imaging to other muscles, without abnormal contrast enhancement.

  16. Aortic Valve Disease

    MedlinePlus

    ... Disease Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Pediatric and Congenital Heart Disease Heart abnormalities that ... Disease Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Aortic Valve Disease Overview The human heart has ...

  17. Massive foetal pericardiomegaly causing pulmonary hypoplasia, associated with intra-pericardial herniation of the liver.

    PubMed

    Davies, M R; Oksenberg, T; Da Fonseca, J M

    1993-12-01

    The clinical features, investigation, treatment and outcome of four newly born babies with the following recognisable triad of findings are presented: Bilateral pulmonary compression with or without hypoplasia. Massive pericardial effusion without cardiac compromise. An intrapericardial hernia containing part of the liver. The primary event in the causation of this triad is a congenital defect in the central tendon of the diaphragm. Compromised hepatic venous outflow involving the herniated part of the liver is the postulated origin of the fluid within the pericardium (Budd-Chiari-like effect). Although rare, this triad is clinically identifiable. Sonar imaging clinches the diagnosis. Surgical correction is simple but the prognosis depends on the presence of pulmonary hypoplasia which caused death in two cases and on other described lethal associated anomalies which were not encountered in the reported patients.

  18. MDCT evaluation of acute aortic syndrome (AAS).

    PubMed

    Valente, Tullio; Rossi, Giovanni; Lassandro, Francesco; Rea, Gaetano; Marino, Maurizio; Muto, Maurizio; Molino, Antonio; Scaglione, Mariano

    2016-01-01

    Non-traumatic acute thoracic aortic syndromes (AAS) describe a spectrum of life-threatening aortic pathologies with significant implications on diagnosis, therapy and management. There is a common pathway for the various manifestations of AAS that eventually leads to a breakdown of the aortic intima and media. Improvements in biology and health policy and diffusion of technology into the community resulted in an associated decrease in mortality and morbidity related to aortic therapeutic interventions. Hybrid procedures, branched and fenestrated endografts, and percutaneous aortic valves have emerged as potent and viable alternatives to traditional surgeries. In this context, current state-of-the art multidetector CT (MDCT) is actually the gold standard in the emergency setting because of its intrinsic diagnostic value. Management of acute aortic disease has changed with the increasing realization that endovascular therapies may offer distinct advantages in these situations. This article provides a summary of AAS, focusing especially on the MDCT technique, typical and atypical findings and common pitfalls of AAS, as well as recent concepts regarding the subtypes of AAS, consisting of aortic dissection, intramural haematoma, penetrating atherosclerotic ulcer and unstable aortic aneurysm or contained aortic rupture. MDCT findings will be related to pathophysiology, timing and management options to achieve a definite and timely diagnostic and therapeutic definition. In the present article, we review the aetiology, pathophysiology, clinical presentation, outcomes and therapeutic approaches to acute aortic syndromes. PMID:27033344

  19. Infant and perinatal pulmonary hypoplasia frequently associated with brainstem hypodevelopment.

    PubMed

    Ottaviani, Giulia; Mingrone, Rosaria; Lavezzi, Anna M; Matturri, Luigi

    2009-04-01

    Recent anatomo-pathological studies have revealed a frequent associated hypoplasia of both arcuate nucleus and lungs in stillbirths. The purpose of this study is to analyze the lung and brainstem development in sudden unexplained perinatal death and sudden infant death syndrome (SIDS). A total of 51 cases were investigated. A complete autopsy was performed in each case. Anatomo-pathologic examination of the central autonomic nervous system included an in-depth study on histological serial sections of the brains where the main structures participating in control of the vital functions are located. The stage of lung development was evaluated by macroscopic and microscopic criteria. In 52.9% of cases, a pulmonary hypoplasia was detected. The pulmonary hypoplasia was significantly more frequent in the SIDS group compared to the sudden perinatal unexplained death groups (p < 0.05). In 72.5% of cases, histological examination of the brainstem on serial sections showed hypodevelopment of the brainstem nuclei, particularly hypoplasia, of the arcuate nucleus (60.8%). In 47.1% of cases, pulmonary hypoplasia was associated with brainstem hypodevelopment. PMID:19288128

  20. 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

  1. 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. PMID:23857641

  2. Chest radiography in acute aortic syndrome: pearls and pitfalls.

    PubMed

    Chawla, Ashish; Rajendran, Surendran; Yung, Wai Heng; Babu, Suresh Balasubramanian; Peh, Wilfred C

    2016-08-01

    Acute aortic syndrome is a group of life-threatening diseases of the thoracic aorta that usually present to the emergency department. It includes aortic dissection, aortic intramural hematoma, and penetrating aortic ulcer. Rare aortic pathologies of aorto-esophageal fistula and mycotic aneurysm may also be included in this list. All these conditions require urgent treatment with complex clinical care and management. Most patients who present with chest pain are evaluated with a chest radiograph in the emergency department. It is important that maximum diagnostic information is extracted from the chest radiograph as certain signs on the chest radiograph are extremely useful in pointing towards the diagnosis of acute aortic syndrome.

  3. Comparison of magnetic resonance imaging of aortic valve stenosis and aortic root to multimodality imaging for selection of transcatheter aortic valve implantation candidates.

    PubMed

    Paelinck, Bernard P; Van Herck, Paul L; Rodrigus, Inez; Claeys, Marc J; Laborde, Jean-Claude; Parizel, Paul M; Vrints, Christiaan J; Bosmans, Johan M

    2011-07-01

    The purpose of the present study was to compare the aortic valve area, aortic valve annulus, and aortic root dimensions measured using magnetic resonance imaging (MRI) with catheterization, transthoracic echocardiography (TTE), and transesophageal echocardiography (TEE). An optimal prosthesis--aortic root match is an essential goal when evaluating patients for transcatheter aortic valve implantation. Comparisons between MRI and the other imaging techniques are rare and need validation. In 24 consecutive, high-risk, symptomatic patients with severe aortic stenosis, aortic valve area was prospectively determined using MRI and direct planimetry using three-dimensional TTE and calculated by catheterization using the Gorlin equation and by Doppler echocardiography using the continuity equation. Aortic valve annulus and the aortic root dimensions were prospectively measured using MRI, 2-dimensional TTE, and invasive aortography. In addition, aortic valve annulus was measured using TEE. No differences in aortic valve area were found among MRI, Doppler echocardiography, and 3-dimensional TTE compared with catheterization (p = NS). Invasive angiography underestimated aortic valve annulus compared with MRI (p <0.001), TEE (p <0.001), and 2-dimensional TTE (p <0.001). Two-dimensional TTE tended to underestimate the aortic valve annulus diameters compared to TEE and MRI. In contrast to 2-dimensional TTE, 3 patients had aortic valve annulus beyond the transcatheter aortic valve implantation range using TEE and MRI. In conclusion, MRI planimetry, Doppler, and 3-dimensional TTE provided an accurate estimate of the aortic valve area compared to catheterization. MRI and TEE provided similar and essential assessment of the aortic valve annulus dimensions, especially at the limits of the transcatheter aortic valve implantation range.

  4. Congenital quadricuspid aortic valve associated with aortic insufficiency and mitral regurgitation

    PubMed Central

    2013-01-01

    Congenital quadricuspid aortic valve is a rare cardiac anomaly. More than half of the patients with this abnormality will develop aortic insufficiency in adulthood. It is vital that patients with quadricuspid aortic valve who present with progressive aortic regurgitation undergo valve replacement or repair at appropriate time. Here, we present two cases of quadricuspid aortic valve. We first describe a 58-year-old man who had mitral regurgitation and ascending aorta dilatation with quadricuspid aortic valve. He underwent aortic valve replacement and mitral valve plasty and recovered well. The second patient is a 20-year-old asymptomatic boy who has been closely followed up and has not received any surgical treatment. PMID:23587156

  5. Congenital quadricuspid aortic valve associated with aortic insufficiency and mitral regurgitation.

    PubMed

    Zhu, Jiaquan; Zhang, Junwen; Wu, Shubin; Zhang, Yunjiao; Ding, Fangbao; Mei, Ju

    2013-01-01

    Congenital quadricuspid aortic valve is a rare cardiac anomaly. More than half of the patients with this abnormality will develop aortic insufficiency in adulthood. It is vital that patients with quadricuspid aortic valve who present with progressive aortic regurgitation undergo valve replacement or repair at appropriate time. Here, we present two cases of quadricuspid aortic valve. We first describe a 58-year-old man who had mitral regurgitation and ascending aorta dilatation with quadricuspid aortic valve. He underwent aortic valve replacement and mitral valve plasty and recovered well. The second patient is a 20-year-old asymptomatic boy who has been closely followed up and has not received any surgical treatment. PMID:23587156

  6. [Congenital hypoplasia of the lower portion of the left psoas muscle].

    PubMed

    Grgić, Vjekoslav

    2010-01-01

    We are presenting a case of a 58-year-old-male patient with a congenital hypoplasia of the lower portion of his left psoas muscle. This rare anomaly, which should be differentiated from other pathological conditions (destructive processes, tumors, metastases, inactivate atrophy), was discovered during the MRI examination of his lumbosacral (LS) spine which the patient underwent due to deterioration of chronic low back pain. His right psoas muscle was hypertrophic. CT examination of his abdomen has shown the identical finding. The MRI examination of his LS spine has shown the intensive and extensive degenerative changes. Besides the hypoplasia of the lower portion of his left psoas muscle, the radiological examinations of the LS spine (MRI) and abdomen (CT) have not shown any other congenital anomalies. Taking into consideration the patient history, the clinical finding, the results of the radiological and other examinations (EMNG) as well as the well known facts about psoas muscle anatomy and function (a stabilizer of the lumbar spine, pelvis and hip; the hip and trunk flexor; the lateral trunk flexor), in this case report, we analysed the clinical manifestations (lateral deviation of lumbar spine; pelvic asymmetry--elvic torsion; increased hip extension on the side of the hypoplastic psoas muscle) and also the late consequences of the unilateral hypoplasia of the psoas muscle (unilateral hypoplasia of the psoas muscle--the overloading of the LS spine and the other psoas muscle--the chronic low back pain--the compensatory hypertrophy of the other psoas muscle-->the intensive and extensive degenerative changes of the LS spine). PMID:21261025

  7. 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. PMID:26853229

  8. Congenital stridor and wheezing as harbingers of the del22q11.2 syndrome presenting cardiovascular malformations of right aortic arch, aberrant left subclavian artery, Kommerell's diverticulum, and left ligamentum arteriosum.

    PubMed

    Lee, Meng-Luen; Chen, Ming; Tsao, Lon-Yen; Chiu, Han-Yao; Chiu, Ing-Sh; Yang, Albert D; Tsai, Pei-Ling

    2011-01-01

    A complete vascular ring composed of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum was diagnosed by barium esophagography, echocardiography, angiography, and multidetector computed tomography of chest in an 18-day-old male neonate who presented with remarkable inspiratory stridor, expiratory wheezing, postprandial vomiting, and dysphagia since birth, and survived surgical division of the left ligamentum arteriosum, resection of the Kommerell's diverticulum, and reimplanation of the left subclavian artery to the left common carotid artery. Cytogenetic analysis and fluorescence in situ hybridization study of his blood revealed chromosome 22q11.2 deletion, with a karyotype of 46,XY.ish del(22)(q11.2 q11.2). A constellation of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum in neonates may cause refractory stridor, wheezing, vomiting, and dysphagia, which can serve as harbingers of the del22q11.2 syndrome.

  9. Loss of PCLO function underlies pontocerebellar hypoplasia type III

    PubMed Central

    Ahmed, Mustafa Y.; Chioza, Barry A.; Rajab, Anna; Schmitz-Abe, Klaus; Al-Khayat, Aisha; Al-Turki, Saeed; Baple, Emma L.; Patton, Michael A.; Al-Memar, Ali Y.; Hurles, Matthew E.; Partlow, Jennifer N.; Hill, R. Sean; Evrony, Gilad D.; Servattalab, Sarah; Markianos, Kyriacos; Walsh, Christopher A.; Crosby, Andrew H.

    2015-01-01

    Objective: To identify the genetic cause of pontocerebellar hypoplasia type III (PCH3). Methods: We studied the original reported pedigree of PCH3 and performed genetic analysis including genome-wide single nucleotide polymorphism genotyping, linkage analysis, whole-exome sequencing, and Sanger sequencing. Human fetal brain RNA sequencing data were then analyzed for the identified candidate gene. Results: The affected individuals presented with severe global developmental delay and seizures starting in the first year of life. Brain MRI of an affected individual showed diffuse atrophy of the cerebrum, cerebellum, and brainstem. Genome-wide single nucleotide polymorphism analysis confirmed the linkage to chromosome 7q we previously reported, and showed no other genomic areas of linkage. Whole-exome sequencing of 2 affected individuals identified a shared homozygous, nonsense variant in the PCLO (piccolo) gene. This variant segregated with the disease phenotype in the pedigree was rare in the population and was predicted to eliminate the PDZ and C2 domains in the C-terminus of the protein. RNA sequencing data of human fetal brain showed that PCLO was moderately expressed in the developing cerebral cortex. Conclusions: Here, we show that a homozygous, nonsense PCLO mutation underlies the autosomal recessive neurodegenerative disorder, PCH3. PCLO is a component of the presynaptic cytoskeletal matrix, and is thought to be involved in regulation of presynaptic proteins and synaptic vesicles. Our findings suggest that PCLO is crucial for the development and survival of a wide range of neuronal types in the human brain. PMID:25832664

  10. Bone marrow hypoplasia in a cat treated with griseofulvin.

    PubMed

    Rottman, J B; English, R V; Breitschwerdt, E B; Duncan, D E

    1991-02-01

    Three weeks after initiation of griseofulvin treatment for dermatophytosis (40 mg/kg of body weight, q 12 h), an 8-yr-old domestic shorthair cat developed depression, vomiting, and pyrexia. Abnormalities found during physical examination included bilateral mydriasis, visual impairment, grade-II/V systolic murmur and multiple areas of alopecia. The cat was pancytopenic; serum biochemical abnormalities included hyperbilirubinemia, hyperglycemia, hyponatremia, and hypokalemia, and urinalysis revealed proteinuria, glycosuria, and bilirubinuria. Examination of a bone marrow aspirate revealed profound hypoplasia of all precursors. Griseofulvin toxicosis was diagnosed on the basis of the temporal relationship of drug administration with onset of clinical, hematologic, and biochemical abnormalities and failure to identify an infective or neoplastic cause for the bone marrow hypoplasia. The condition was refractory to treatment and the cat was euthanatized. Pathologic changes in the bone marrow were consistent with severe hypoplasia of all bone marrow precursors.

  11. Hybrid treatment of penetrating aortic ulcer.

    PubMed

    Lara, Juan Antonio Herrero; Martins-Romêo, Daniela de Araújo; Escudero, Carlos Caparrós; Vázquez, Rosa María Lepe; Falcón, María Del Carmen Prieto; Batista, Vinicius Bianchi

    2015-01-01

    Penetrating atherosclerotic aortic ulcer is a rare entity with poor prognosis in the setting of acute aortic syndrome. In the literature, cases like the present one, located in the aortic arch, starting with chest pain and evolving with dysphonia, are even rarer. The present report emphasizes the role played by computed tomography in the diagnosis of penetrating atherosclerotic ulcer as well as in the differentiation of this condition from other acute aortic syndromes. Additionally, the authors describe a new therapeutic approach represented by a hybrid endovascular surgical procedure for treatment of the disease.

  12. Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis

    PubMed Central

    Shields, Rebecca A; Cavuoto, Kara M; McKeown, Craig A; Chang, Ta C

    2015-01-01

    Key Clinical Message In patients with foveal hypoplasia, anterior segment dysgenesis and an absence of systemic findings, consider a recently described syndrome of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis (FHONDA) in the differential diagnosis. PMID:26273469

  13. Infrarenal Aortic Occlusion

    PubMed Central

    Traverso, L. W.; Baker, J. D.; Dainko, E. A.; Machleder, H. I.

    1978-01-01

    Twenty-eight patients with total occlusion of the infrarenal aorta have been seen at the UCLA Hospitals in the past 11 years. Claudication was the presenting complaint in all but one patient, with one-third having ischemic rest pain. The average age of these patients was 54 years, and their histories revealed a surprising absence of myocardial infarction, stroke, or diabetes, although 40% had essential hypertension. Heavy tobacco use, however, was characteristic of the entire group. Arteriography proved valuable in identifying and characterizing the vascular abnormalities, but posed problems in technique and interpretation. Significant distal arterial disease was detected radiographically in only 21% of these patients. Operative correction of the aortic occlusion was performed on 26 patients, 18 by aortic bypass grafts and eight by aorto-iliac endarterectomy, with one early postoperative death. Although the thrombus extended to the renal artery origins in 77% of the cases, a well-designed technical approach did not require renal artery occlusion. Using serial creatinine determinations, one case of renal insufficiency was detected which was associated with prolonged postoperative hypotension. Although the extent of distal disease was more severe in those who underwent bypass, symptoms of claudication returned earlier and were more prominent in the endarterectomy group. This recurrence of systems was not favorably altered by sympathectomy performed concomitantly with the initial procedure. Even though this condition seems to pose difficult technical obstacles and has a poor prognosis, infrarenal aortic occlusion can be successfully treated by aortic bypass, with favorable long-term results, if particular attention is paid to elements of the preoperative evaluation and the intraoperative technical requirements peculiar to this relatively uncommon disease entity. ImagesFig. 1.Fig. 2.Fig. 3. PMID:646479

  14. 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

  15. Transcatheter aortic valve implantation.

    PubMed

    Nielsen, Hans Henrik Møller

    2012-12-01

    Transcatheter aortic valve implantation (TAVI) was introduced experimentally in 1989, based on a newly developed heart valve prosthesis - the stentvalve. The valve was invented by a Danish cardiologist named Henning Rud Andersen. The new valve was revolutionary. It was foldable and could be inserted via a catheter through an artery in the groin, without the need for heart lung machine. This allowed for a new valve implantation technique, much less invasive than conventional surgical aortic valve replacement (SAVR). Surgical aortic valve replacement is safe and improves symptoms along with survival. However, up to 1/3 of patients with aortic valve stenosis cannot complete the procedure due to frailty. The catheter technique was hoped to provide a new treatment option for these patients. The first human case was in 2002, but more widespread clinical use did not begin until 2006-2010. Today, in 2011, more than 40,000 valves have been implanted worldwide. Initially, because of the experimental character of the procedure, TAVI was reserved for patients who could not undergo SAVR due to high risk. The results in this group of patients were promising. The procedural safety was acceptable, and the patients experienced significant improvements in their symptoms. Three of the papers in this PhD-thesis are based on the outcome of TAVI at Skejby Hospital, in this high-risk population [I, II and IV]. Along with other international publications, they support TAVI as being superior to standard medical treatment, despite a high risk of prosthetic regurgitation. These results only apply to high-risk patients, who cannot undergo SAVR. The main purpose of this PhD study has been to investigate the quality of TAVI compared to SAVR, in order to define the indications for this new procedure. The article attached [V] describes a prospective clinical randomised controlled trial, between TAVI to SAVR in surgically amenable patients over 75 years of age with isolated aortic valve stenosis

  16. Balloon aortic valvuloplasty.

    PubMed

    Wang, A; Harrison, J K; Bashore, T M

    1997-01-01

    Balloon aortic valvuloplasty is a percutaneous, therapeutic option for patients with severe aortic stenosis, yet the effectiveness of this procedure is dependent on the morphology of the stenotic aortic valve and the respective mechanism of dilation. In younger patients with congenital aortic stenosis, acute and intermediate-term results are good. However, in adult patients, in whom degenerative aortic stenosis is the most common cause, the acute clinical and hemodynamic benefits of balloon aortic valvuloplasty are not lasting, as restenosis occurs in most patients within 6 months. Sympatomatic relief for adults undergoing balloon aortic valvuloplasty is only apparent in patients with normal left ventricular function, who generally are also candidates for aortic valve replacement. Furthermore, the long-term survival for adults after balloon aortic valvuloplasty is similar to the natural history of untreated severe aortic stenosis. In this article, the mechanism of balloon aortic valvuloplasty, as well as its clinical and hemodynamic effects, are reviewed in the context of the different morphological types of aortic stenosis. In addition, two large registries of adult patients treated with balloon aortic valvuloplasty provide important information regarding the acute and long-term results of this procedure and are reviewed.

  17. Long-segment thoracoabdominal aortic occlusions in childhood.

    PubMed

    Coleman, Dawn M; Eliason, Jonathan L; Ohye, Richard G; Stanley, James C

    2012-08-01

    Developmental coarctation, hypoplasia, and occlusion of the abdominal aorta is a rare disease encompassing many differing etiologies and diverse methods of treatment. Long-segment thoracoabdominal aortic occlusion, an extreme manifestation of this disorder, has not previously been reported in children. Two pediatric patients with this entity, a 5- and 13-year-old with uncontrolled hypertension, underwent extensive arterial reconstructions for this entity and provided the impetus for this report. An ascending thoracic aorta to infrarenal aortic expanded polytetrafluoroethylene bypass was undertaken in the younger child. A distal thoracic aorto-bi-iliac artery expanded polytetrafluoroethylene bypass, with implantation of the left renal artery to one graft limb and a right renal artery bypass originating from the other limb, was performed in the older child. There were no major perioperative complications. Both patients were discharged with easily controlled blood pressures. They have remained normotensive at 13 and 14 months follow-up.

  18. 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.

  19. 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

  20. Abdominal Aortic Aneurysms: Treatments

    MedlinePlus

    ... information Membership Directory (SIR login) Interventional Radiology Abdominal Aortic Aneurysms Interventional Radiologists Treat Abdominal Aneurysms Nonsurgically Interventional radiologists ...

  1. 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. PMID:20087544

  2. 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. PMID:22156648

  3. Organ protection during aortic cross-clamping.

    PubMed

    Yeung, Kak Khee; Groeneveld, Menno; Lu, Joyce Ja-Ning; van Diemen, Pepijn; Jongkind, Vincent; Wisselink, Willem

    2016-09-01

    Open surgical repair of an aortic aneurysm requires aortic cross-clamping, resulting in temporary ischemia of all organs and tissues supplied by the aorta distal to the clamp. Major complications of open aneurysm repair due to aortic cross-clamping include renal ischemia-reperfusion injury and postoperative colonic ischemia in case of supra- and infrarenal aortic aneurysm repair. Ischemia-reperfusion injury results in excessive production of reactive oxygen species and in oxidative stress, which can lead to multiple organ failure. Several perioperative protective strategies have been suggested to preserve renal function during aortic cross-clamping, such as pharmacotherapy and therapeutic hypothermia of the kidneys. In this chapter, we will briefly discuss the pathophysiology of ischemia-reperfusion injury and the preventative measures that can be taken to avoid abdominal organ injury. Finally, techniques to minimize the risk of complications during and after open aneurysm repair will be presented. PMID:27650341

  4. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

    PubMed Central

    2011-01-01

    Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Patients have severe cognitive and motor handicaps and seizures are often reported. Treatment is only symptomatic and prognosis is poor, as most patients die during infancy or childhood. The genetic basis of different subtypes has been elucidated, which makes prenatal testing possible in families with mutations. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. The tRNA splicing endonuclease, the mitochondrial arginyl- tRNA synthetase and the vaccinia related kinase1 are mutated in the minority of PCH1 cases. These genes are involved in essential processes in protein synthesis in general and tRNA processing in particular. In this review we describe the neuroradiological, neuropathological, clinical and genetic features of the different PCH subtypes and we report on in vitro and in vivo studies on the tRNA splicing endonuclease and mitochondrial arginyl-tRNA synthetase and discuss their relation to pontocerebellar hypoplasia. PMID:21749694

  5. 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

  6. Abdominal aortic aneurysms: case report

    PubMed Central

    Hadida, Camille; Rajwani, Moez

    1998-01-01

    A 71-year-old male presented to a chiropractic clinic with subacute low back pain. While the pain appeared to be mechanical in nature, radiographic evaluation revealed an abdominal aortic aneurysm, which required the patient to have vascular surgery. This case report illustrates the importance of the history and physical examination in addition to a thorough knowledge of the features of abdominal aortic aneurysms. The application of spinal manipulative therapy in patients with (AAA) is also discussed. ImagesFigure 1Figure 2Figure 3

  7. Infected abdominal aortic aneurysm due to Morganella morganii: CT findings.

    PubMed

    Kwon, Oh Young; Lee, Jong Seok; Choi, Han Sung; Hong, Hoon Pyo; Ko, Young Gwan

    2011-02-01

    An infected aortic aneurysm, or mycotic aneurysm, is a rare arterial dilatation due to destruction of the infected vessel wall. Common pathogens resulting in an infected aortic aneurysm are Salmonella and Clostridium species, as well as Staphylococcus aureus; Morganella morganii, on the other hand, is very rare. An infected abdominal aortic aneurysm has tendencies to grow rapidly and to rupture. The mortality rate is high in patients undergoing emergent surgical intervention. We report the case of a 65-year-old man who presented with an infected abdominal aortic aneurysm caused by M. morganii. A high index of suspicion and imaging tests are necessary in order to diagnose an infected aortic aneurysm.

  8. Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

    PubMed

    Garavelli, Livia; Gargano, Giancarlo; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Melli, Nives; Braibanti, Silvia; Gelmini, Chiara; Forzano, Francesca; Pietrobono, Roberta; Pomponi, Maria Grazia; Andreucci, Elena; Toutain, Annick; Superti-Furga, Andrea; Neri, Giovanni

    2012-09-01

    The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.

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

    PubMed Central

    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. PMID:26664864

  10. 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.

  11. [A case of right pulmonary hypoplasia with congenital diaphragmatic hernia and dextrocardia].

    PubMed

    Andou, A; Shimizu, N; Okabe, K; Date, H; Teramoto, S

    1992-10-01

    Chest X-ray of a 28-year-old woman revealed an abnormal shadow in the right lower lung field and dextrocardia, for which detailed investigation was performed. Since the CT number of the tumor shadow corresponded to that of the liver on chest CT, diaphragmatic hernia of the liver was suspected, and was confirmed by MRI and angiography of the abdomen. In addition, the pulmonary artery and vein were hypoplastic, and angiography of the pulmonary artery demonstrated pulmonary hypoplasia. This case was considered to have primary pulmonary hypoplasia, because the dextrocardia was considered to have occurred secondary to pulmonary hypoplasia and the diaphragmatic hernia of the liver was not sufficiently large to cause pulmonary hypoplasia. Pulmonary hypoplasia first diagnosed in adulthood is rare, with a clinical course and roentgenographic appearance differing from those of pulmonary hypoplasia in children.

  12. Unilateral cerebellar and brain stem hypoplasia in a child with a postnatal diagnosis of dissecting aneurysm in basilar artery.

    PubMed

    Akkas-Yazici, Sinem; Benbir, Gulcin; Kocer, Naci; Yalcinkaya, Cengiz

    2014-12-01

    Cerebellum is highly vulnerable in the prenatal period. Increasing experience with fetal imaging studies has demonstrated that unilateral cerebellar hypoplasia (UCH) is mainly prenatally acquired, representing disruption rather than a true malformation. Here, we report the case of a 17-month-old boy presented with a sudden onset of abnormal eye movements, who was diagnosed during routine fetal screening with UCH and brain stem hypoplasia and suffered from cerebral palsy; however, no posterior arterial system pathology was detected on cranial magnetic resonance images at that time. Following this acute event, diagnostic neuroradiological interventions revealed a dissecting aneurysm with a saccular component in midbasilar arterial segment and hypoplastic left posterior cerebral artery, which may support the ischemic disruptive mechanism in the development of prenatally detected UCH in this child. The pathogenetic mechanisms for cerebellar disruption are certainly multifactorial in origin, although ischemic arterial etiologies were often undervalued.

  13. Chronic Type A Aortic Dissection

    PubMed Central

    Hynes, Conor F.; Greenberg, Michael D.; Sarin, Shawn; Trachiotis, Gregory D.

    2016-01-01

    Stanford Type A aortic dissection is a rapidly progressing disease process that is often fatal without emergent surgical repair. A small proportion of Type A dissections go undiagnosed in the acute phase and are found upon delayed presentation of symptoms or incidentally. These chronic lesions may have a distinct natural history that may have a better prognosis and could potentially be managed differently then those presenting acutely. The method of repair depends on location and extent of the false lumen, as well as involvement of critical structures and branch arteries. Surgical repair techniques similar to those employed for acute dissection management are currently first-line therapy for chronic cases that involve the aortic valve, sinuses of Valsalva, coronary arteries, and supra-aortic branch arteries. In patients with high-risk for surgery, endovascular repairs have been successful, and active development of delivery systems and grafts will continue to enhance outcomes. We present two cases of chronic Type A aortic dissection and review the current literature.

  14. Management of hypoplastic aortic arch associated with neonatal coarctation.

    PubMed

    Caspi, J; Ilbawi, M N; Muster, A; Roberson, D; Arcilla, R

    1994-12-01

    Controversy still exists as to whether hypoplastic aortic arch frequently associated with neonatal coarctation, should be enlarged at the time of coarctation repair. To determine the indications for and the outcome of repair of hypoplastic aortic arch, pre- and postoperative angiograms/echocardigraphy of 77 cases with isolated (n = 25, Group 1) or complex (n = 52, Group 2) neonatal coarctation operated upon between 1/80 and 12/89 were reviewed. Age was 5-14 days (mean 8 +/- 1.6). Aortic arch/ascending aorta diameter ratio (AR/AA) as a measure of the degree of aortic arch hypoplasia was 0.39-0.64 (0.52 +/- 0.04) in isolated and 0.15-0.47 (0.34 +/- 0.06) in complex coarctation (p < 0.05). Left subclavian flap aortoplasty was used in 72 patients; alone in 25, in combination with pulmonary artery banding in 43 patients, and simultaneously with intracardiac repair in 4 patients. Extensive reconstruction of aortic arch and coarctation with synthetic patch was performed in the remaining 5 patients (AR/AO = 0.16 +/- 0.03) using cardiopulmonary by-pass at the time of intracardiac repair. Operative mortality was 2/76 (2.5%). Follow-up is 6.6 +/- 1.4 years. Recoarctation occurred in 3 patients (4%). AR/AA increased to 0.86 +/- 0.1 in isolated (p < 0.05 vs preoperative) and to 0.7 +/- 0.1 in complex coarctation (p < 0.05 vs preoperative). In the majority of cases, hypoplastic aortic arch associated with coarctation grows satisfactorily following simple repair of coarctation with no significant residual narrowing.(ABSTRACT TRUNCATED AT 250 WORDS)

  15. [Aplasia and hypoplasia of the optic nerve. Comparison of 2 cases].

    PubMed

    Pisaturo, C; Dolci, A; Pessagno, A; Padua, G L; Dassio, D A; De Negri, M

    1996-10-01

    Hypoplasia and aplasia of the optic nerve are congenital anomalies characterized respectively by a marked volume reduction (very small papilla, often identifiable only as a rosy-yellowish area from which the retinal vessels emerge) and by the absence of the optic disk (absence of the nerve and mainly of its vessels) and of the visual functions. These anomalies are often associated with malformations of the central nervous system and of the ocular structures. The defects originate in the embryonal period due to the arrested development of the mesodermal component towards the head of the optic nerve. The aim of this study is to try to interpret the different clinical manifestations of the disease by observing two cases (a female and a male) with a clinical picture of aplasia and hypoplasia of the optic nerve respectively. Both cases presented the following clinical characteristics: developmental defects of the optic nerve, severe microcephaly, positive IgG antibodies against CMV. The association of the optic nerve defect with microcephaly is due to the embryogenic origin of the optic vescicle by prosencephalon. The resulting clinical picture is probably the outcome of an interfering process that the authors have presumed in CMV intrauterine infection, after having excluded the most frequent teratogenic agents (maternal diabetes, tabagism, intake of alcohol ad drugs). Moreover, the different degree of ocular involvement and the different time of onset of the intrauterine pathogenic insult in the two cases could account for the different clinical pictures. PMID:9053727

  16. [Acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult - 2014 AS SMC Guidelines on the classification and diagnosis of aortic diseases].

    PubMed

    Gavorník, Peter; Dukát, Andrej; Gašpar, Ľudovít

    2015-01-01

    In addition to organovascular arterial ischemic diseases (cardiovascular, vasculovascular, neurovascular, extre-mitovascular, renovascular, genitovascular, bronchopulmovascular, mesenteriovascular, osteoarthromusculovascular, dermovascular, oculovascular, otovascular, stomatovascular etc.), aortic diseases contribute to the wide spectrum of arterial diseases: aortic aneurysms (AA), acute aortic syndromes (AAS) including aortic dissection (AD), intramural haematoma (IMH), penetrating atherosclerotic ulcer (PAU) and traumatic aortic injury (TAI), pseudoaneurysm, aortic rupture, atherosclerosis, vasculitis as well as genetic diseases (e.g. Turner syndrome, Marfan syndrome, Ehlers-Danlos syndrome) and congenital abnormalities including the coarctation of the aorta (CoA). Similarly to other arterial diseases, aortic diseases may be diagnosed after a long period of subclinical development or they may have an acute presentation. Acute aortic syndrome is often the first sign of the disease, which needs rapid diagnosis and decisionmaking to reduce the extremely poor prognosis. Key clinical-etiology-anatomy-patophysiology (CEAP) diagnostic aspects of aortic diseases are discussed in this document (project Vessels).

  17. Endovascular resection of the native aortic valve before transcatheter aortic valve implantation: state of the art and review.

    PubMed

    Navarra, Emiliano; Mosala Nezhad, Zahra; Bollen, Xavier; Gielen, Charles-Edouard; Mastrobuoni, Stefano; De Kerchove, Laurent; Raucent, Benoit; Astarci, Parla

    2016-09-01

    Transcatheter aortic valve implantation was introduced into clinical practice in 2002 as a rescue approach in patients presenting with symptomatic severe aortic stenosis but not eligible for conventional aortic valve replacement. This technique allows implantation of a balloon expandable bioprosthesis without resection of the native aortic valve. Several complications are described as a consequence of the residual highly calcified valve being squeezed against the aortic wall by the stent of the implant. This can result in deformation of the metal stent and paravalvular leakage, risk of occlusion of the coronary ostia, or central and peripheral embolization of valvular debris. To avoid these complications, many authors suggest the possibility to resect and remove the native aortic valve before transcatheter aortic valve implantation. In this field, different authors have described possible techniques and different sources of energy to resect the calcified valve. In this article, we review the development of these experimental techniques and discuss future prospects in this field.

  18. Endovascular resection of the native aortic valve before transcatheter aortic valve implantation: state of the art and review.

    PubMed

    Navarra, Emiliano; Mosala Nezhad, Zahra; Bollen, Xavier; Gielen, Charles-Edouard; Mastrobuoni, Stefano; De Kerchove, Laurent; Raucent, Benoit; Astarci, Parla

    2016-09-01

    Transcatheter aortic valve implantation was introduced into clinical practice in 2002 as a rescue approach in patients presenting with symptomatic severe aortic stenosis but not eligible for conventional aortic valve replacement. This technique allows implantation of a balloon expandable bioprosthesis without resection of the native aortic valve. Several complications are described as a consequence of the residual highly calcified valve being squeezed against the aortic wall by the stent of the implant. This can result in deformation of the metal stent and paravalvular leakage, risk of occlusion of the coronary ostia, or central and peripheral embolization of valvular debris. To avoid these complications, many authors suggest the possibility to resect and remove the native aortic valve before transcatheter aortic valve implantation. In this field, different authors have described possible techniques and different sources of energy to resect the calcified valve. In this article, we review the development of these experimental techniques and discuss future prospects in this field. PMID:27032472

  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. The distraction osteogenesis in midfacial hypoplasia.

    PubMed

    Lucchese, Alessandra; Gherlone, Enrico F; Asperio, Paolo; Baena, Ruggero Rodriguez y

    2014-05-01

    Distraction osteogenesis (DO) can generate new bone in a gap between 2 vascularized bone surfaces in response to application of graduated tensile stress across the bone gap. The authors present the clinical result in a cleft patient with severe maxillary deficiency treated by a rigid external distraction (RED) device. A boy complained of both masticatory and psychological problems because of cleft with severe midfacial retrusion. The treatment aimed to create a well-balanced facial profile, increase maxillary incisal display, create proper overjet and overbite, and align his dentition. By the RED system, the traction is applied to the maxilla through the dentition by an intraoral splint. A complete Le Fort I osteotomy was performed, including pterygomaxillary and septal disjunction, with mobilization. Once osteotomy was completed, the halo portion of the RED device was adjusted for the width of the neurocranium and was rigidly fixed around the head with 2 scalp screws on each side. A well-balanced facial profile and a good alignment of the dentition were obtained. The patients had considerable improvement in his self-esteem. Clinical reports have suggested that maxillary advancements achieved by distraction are more stable than those achieved with orthognathic surgery with a minimal influence on velopharyngeal competence.

  1. Temporary extra-anatomic brain perfusion followed by total rerouting of the supra-aortic vessels for hybrid repair of a ruptured aortic arch aneurysm.

    PubMed

    Joyeux, Frederic; Canaud, Ludovic; Hireche, Kheira; Berthet, Jean-Philippe; Marty-Ane, Charles; Alric, Pierre

    2011-10-01

    Hybrid repair of ruptured aortic arch repair has been proposed as a valuable approach. However, the presence of an anterior mediastinal hematoma must be carefully detected because of the inherent risk of rupture at sternotomy. We report the case of a patient presenting a ruptured aortic arch aneurysm with anterior rupture who underwent hybrid repair using a temporary extra-anatomic brain perfusion followed by total rerouting of the supra-aortic trunks. We propose this adjunctive technique as a means of allowing a safe endovascular exclusion of aortic arch lesions and avoiding the risk of acute and total aortic rupture in case of anterior rupture of aortic arch aneurysms.

  2. Segmental spinal cord hypoplasia in a Holstein Friesian calf.

    PubMed

    Binanti, D; Fantinato, E; De Zani, D; Riccaboni, P; Pravettoni, D; Zani, D D

    2013-08-01

    An 8-day-old female Holstein Friesian calf was examined because of congenital spastic paresis of the hind limbs. Myelography revealed deviation and thinning of subarachnoid contrast medium columns in the lumbar segment. Upon magnetic resonance imaging, the 'hour-glass' subdural compression appeared as a T1-hypointense, T2-hyperintense ovoidal area suggestive of cerebral spinal fluid collection, compatible with hydrosyringomyelia. The calf was euthanized and the necropsy confirmed the diagnosis of segmental spinal cord hypoplasia of the lumbar tract associated to hydromyelic and syringomyelic cavities.

  3. Conservative management of aortic arch injury following penetrating trauma.

    PubMed

    Mohammed, R K; Cheung, S; Parikh, S P; Asgaria, K

    2015-04-01

    Aortic arch injuries following penetrating trauma are typically lethal events with high mortality rates. Traditionally, the standard of care for patients presenting with penetrating injury and aortic involvement has included surgical intervention. We report the case of a 31-year-old man who was managed non-operatively after sustaining multiple stab wounds to the left chest and presenting with mid aortic arch injury.

  4. 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.

  5. 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.

  6. Chest radiography in acute aortic syndrome: pearls and pitfalls.

    PubMed

    Chawla, Ashish; Rajendran, Surendran; Yung, Wai Heng; Babu, Suresh Balasubramanian; Peh, Wilfred C

    2016-08-01

    Acute aortic syndrome is a group of life-threatening diseases of the thoracic aorta that usually present to the emergency department. It includes aortic dissection, aortic intramural hematoma, and penetrating aortic ulcer. Rare aortic pathologies of aorto-esophageal fistula and mycotic aneurysm may also be included in this list. All these conditions require urgent treatment with complex clinical care and management. Most patients who present with chest pain are evaluated with a chest radiograph in the emergency department. It is important that maximum diagnostic information is extracted from the chest radiograph as certain signs on the chest radiograph are extremely useful in pointing towards the diagnosis of acute aortic syndrome. PMID:27282377

  7. A rare cause of recurrent aortic dissection.

    PubMed

    Agrawal, Yashwant; Gupta, Vishal

    2016-07-01

    We report the case of a 19-year-old man with a history of Loeys-Dietz syndrome (LDS), which was diagnosed when he had a Stanford type A aortic dissection. He also had multiple aneurysms including ones in the innominate, right common carotid, and right internal mammary arteries. He had had multiple procedures including Bentall's procedure, repeat sternotomy with complete arch and valve replacement, and coil embolization of internal mammary artery aneurysm in the past. His LDS was characterized by gene mutation for transforming growth factor-β receptor 1. He presented to our facility with sudden onset of back pain, radiating to the right shoulder and chest. He was diagnosed with Stanford type B aortic dissection and underwent thoracic aorta endovascular repair for his aortic dissection. This case represents the broad spectrum of pathology associated with LDS where even with regular surveillance and aggressive medical management the patient developed Stanford B aortic dissection. PMID:27358537

  8. Nanobacteria-associated calcific aortic valve stenosis.

    PubMed

    Jelic, Tomislav M; Chang, Ho-Huang; Roque, Rod; Malas, Amer M; Warren, Stafford G; Sommer, Andrei P

    2007-01-01

    Calcific aortic valve stenosis is the most common valvular disease in developed countries, and the major reason for operative valve replacement. In the US, the current annual cost of this surgery is approximately 1 billion dollars. Despite increasing morbidity and mortality, little is known of the cellular basis of the calcifications, which occur in high-perfusion zones of the heart. The case is presented of a patient with calcific aortic valve stenosis and colonies of progressively mineralized nanobacteria in the fibrocalcific nodules of the aortic cusps, as revealed by transmission electron microscopy. Consistent with their outstanding bioadhesivity, nanobacteria might serve as causative agents in the development of calcific aortic valve stenosis. PMID:17315391

  9. Can release of urinary retention trigger abdominal aortic aneurysm rupture?

    PubMed

    Luhmann, Andreas; Powell-Bowns, Matilda; Elseedawy, Emad

    2013-04-04

    Only 50% of abdominal aortic aneurysms present with the classic triad of hypotension, back pain and a pulsatile abdominal mass. This variability in symptoms can delay diagnosis and treatment. We present the case of a patient presenting with a unique combination of symptoms suggesting that decompression of urinary retention can lead to abdominal aortic aneurysm rupture.

  10. Left main compression by an aortic root abscess.

    PubMed

    Misuraca, Leonardo; De Caro, Francesco; De Carlo, Marco; Barzaghi, Carlo; Scioti, Gianni; Minzioni, Gaetano; Petronio, Anna S

    2012-03-01

    A 79-year-old man with severe aortic stenosis, history of coronary artery disease and a recent hospitalization for sepsis presented at our institution following a syncope and angina at rest. Coronary angiography and aortography showed an aortic root abscess, causing left main coronary artery compression. This life-threatening complication of aortic valve endocarditis is rare and requires immediate surgical correction. PMID:22306781

  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. A rare complication: an attempt of retrieval of an aortic valve wrapped with pig tail catheter during transcatheter aortic valve implantation.

    PubMed

    Yildiz, Bekir Serhat; Alihanoglu, Yusuf Izzettin; Alur, Ihsan; Evrengul, Harun; Kaya, Dayimi

    2015-09-01

    Transcatheter aortic valve implantation is preferred to treat high surgical risk patients with severe aort stenosis. Wrapping of a pig tail catheter with device struts during transcatheter aortic valve implantation is a very rare complication. In this report, we present the images and videos of an attempt of retrieval of an aortic valve wrapped with pig tail catheter during transcatheter aortic valve implantation in a 71-year-old man.

  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. 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

  15. Rare Case of Unilateral Hypoplasia of Lung with Associated Ventricular Mass in an Adult

    PubMed Central

    Alam, Azad; Iyer, Aparna; Kutty, Jayalakshmi Thelapurath

    2016-01-01

    Hypoplasia of the lung is a rare congenital condition which can be: a) primary i.e. no apparent cause is found; or b) secondary i.e. associated with other congenital anomalies that are implicated in its pathogenesis. These anomalies may involve the diaphragm, cardiovascular, central nervous, urogenital and musculoskeletal system. Patients usually present in neonatal, infancy or childhood period and very rarely in adulthood. Our patient was an adult having a unilateral hypoplastic lung associated with a ventricular mass and to our knowledge this rare combination has never been reported in the English literature; though there are reports of prenatal or newborns with hypoplastic lung and rhabdomyoma of ventricle who did not survive. PMID:27630888

  16. 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

  17. 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

  18. Rare Case of Unilateral Hypoplasia of Lung with Associated Ventricular Mass in an Adult.

    PubMed

    Mirchandani, Lavina Vishnu; Alam, Azad; Iyer, Aparna; Kutty, Jayalakshmi Thelapurath

    2016-07-01

    Hypoplasia of the lung is a rare congenital condition which can be: a) primary i.e. no apparent cause is found; or b) secondary i.e. associated with other congenital anomalies that are implicated in its pathogenesis. These anomalies may involve the diaphragm, cardiovascular, central nervous, urogenital and musculoskeletal system. Patients usually present in neonatal, infancy or childhood period and very rarely in adulthood. Our patient was an adult having a unilateral hypoplastic lung associated with a ventricular mass and to our knowledge this rare combination has never been reported in the English literature; though there are reports of prenatal or newborns with hypoplastic lung and rhabdomyoma of ventricle who did not survive. PMID:27630888

  19. Diagnosis and management of acute aortic syndromes: dissection, intramural hematoma, and penetrating aortic ulcer.

    PubMed

    Bonaca, Marc P; O'Gara, Patrick T

    2014-01-01

    Acute aortic syndromes constitute a spectrum of conditions characterized by disruptions in the integrity of the aortic wall that may lead to potentially catastrophic outcomes. They include classic aortic dissection, intramural hematoma, and penetrating aortic ulcer. Although imaging studies are sensitive and specific, timely diagnosis can be delayed because of variability in presenting symptoms and the relatively low frequency with which acute aortic syndromes are seen in the emergency setting. Traditional classification systems, such as the Stanford system, facilitate early treatment decision-making through recognition of the high risk of death and major complications associated with involvement of the ascending aorta (type A). These patients are treated surgically unless intractable and severe co-morbidities are present. Outcomes with dissections that do not involve the ascending aorta (type B) depend on the presence of acute complications (e.g., malperfusion, early aneurysm formation, leakage), the patency and size of the false lumen, and patient co-morbidities. Patients with uncomplicated type B dissections are initially treated medically. Endovascular techniques have emerged as an alternative to surgery for the management of complicated type B dissections when intervention is necessary. Patients with acute aortic syndromes require aggressive medical care, risk stratification for additional complications and targeted genetic assessment as well as careful long-term monitoring to assess for evolving complications. The optimal care of patients with acute aortic syndrome requires the cooperation of members of an experienced multidisciplinary team both in the acute and chronic setting.

  20. Small aortic valve annulus in children with fixed subaortic stenosis.

    PubMed

    Thilenius, O G; Campbell, D; Bharati, S; Lev, M; Arcilla, R A

    1989-01-01

    Twenty-one hearts with fixed subaortic stenosis (FSAS) were examined pathologically. Thirty children with no hemodynamically significant heart disease, 31 children with valvar aortic stenosis, and 25 children with FSAS were studied by echo- and angiocardiography. The following conclusions were drawn: (1) Patients with FSAS often have abnormal aortic valve leaflets as well as small aortic valve annulus. (2) A small aortic annulus/descending aorta ratio is probably present at birth, and may decrease with increasing age. (3) In some patients with FSAS the aortic valve annulus is too small for simple resection of the fibroelastic tissue. A Konno operation is needed for these patients. (4) M-mode echocardiography has not been useful in identifying abnormally small aortic valve annulus in FSAS patients.

  1. Craniofacial and dental characteristics of cartilage-hair hypoplasia.

    PubMed

    Rönning, O; Myllarniemi, S; Perheentupa, J

    1978-01-01

    The cranio-facial and dental features were studied by means of roentgencephalometry and anthropometry in 24 patients with cartilage-hair-hypoplasia. Data pertaining to the cranial base were considered indicative of subnormal growth in some of the cranial synchondroses. The width of the neurocranium was slightly below the values of the controls, whereas neurocranial length and circumference appeared unaffected. Facial height was larger than in the controls and facial index values were high. The chin was receding, but the other values of facial depth were relatively large. No abnormalities were observed in tooth morphology, dental age, or dental occlusion. The neurocranial morphology in CHH and achondroplasia show some similarities; the skull base, however, is clearly less bent in the CHH-syndrome. This, together with the virtually normal face and dentition in CHH-patients, is, perhaps, of differential diagnostic value.

  2. Aortic valve-sparing in aortic dissection with transposition of great arteries.

    PubMed

    Sharma, Rajiv; Cohen, Brent; Peters, Paul; Shah, Pallav

    2013-04-01

    Patients with transposition of the great arteries have good survival after surgery, but some have complications ranging from heart failure to valve dysfunction. A 42-year-old woman who underwent surgical correction in childhood, presented with aortic dissection and had a valve-sparing root operation, but died immediately postoperatively. Both aortic dissection and valve-sparing root operations in this setting have not been described before. This case highlights facts to consider in the treatment of this presentation. PMID:24532622

  3. 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.

  4. Intra-aortic balloon pump associated with dynamic left ventricular outflow tract obstruction after valve replacement for aortic stenosis.

    PubMed

    Morewood, G H; Weiss, S J

    2000-03-01

    An unstable patient with critical aortic stenosis had an intra-aortic balloon pump placed preoperatively for hemodynamic support and alleviation of symptoms. After separation from cardiopulmonary bypass following aortic valve replacement, the patient was hypotensive with increased pulmonary artery pressures. Transesophageal echocardiography revealed left ventricular outflow tract obstruction associated with systolic anterior motion of the mitral valve and severe mitral regurgitation. This pathophysiology was present when ventricular systole was preceded by balloon counterpulsation, but was absent during unassisted systole. This case report demonstrates a potentially significant untoward effect of intra-aortic balloon pump augmentation after aortic valve replacement for aortic stenosis. The timely diagnosis of this iatrogenic condition in the operating room permitted the prompt implementation of appropriate management strategies and avoided unnecessary surgical intervention.

  5. 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

  6. [Nasal respiratory stenosis and maxillary hypoplasia. Changes after orthodontic treatment with rapid palatal expansion].

    PubMed

    Piccini, A; Giorgetti, R; Fiorelli, G

    1989-01-01

    The relationship between hypoplasia of the upper maxillary bone and nasal respiratory insufficiency in a group of twenty infants with malocclusion being treated by rapid maxillary expansion (RME) were studied. Prior to treatment all patients presented endognatia with discrepancies of from -4 to -7 mm in the transverse basal skeleton. These were often associated with adenoid hypertrophy (70% of the cases), increased total nasal resistance (70%), oral respiration (80%) and middle ear diseases (30%). RME led to resolution of occlusion alterations in all cases and often also brought about a regression in adenoid hypertrophy (57% of the cases), normalization of the total nasal resistance (70%) and respiration (80%). These effects were achieved alone without association with any other form of medical or surgical E.N.T. treatment. The functional results confirmed by the radiological and clinical findings indicate an increase in the diameters of the nasal fossa and in the distance between the canines, between premolars and between molars as well as reduction in adenoid vegetation and in the diffuse hypertrophic tissues lining the naso-pharyngeal space. Nonetheless, hypoplasia of the upper maxillary bone and nasal respiratory insufficiency remain strictly linked and are bound to a variable, and at times uncertain, cause-effect relationship. Is nasal stenosis the moving force of maxillary-mandibular dysmorphism and gnatological dysfunction or does it result from an overall genetic conditioning of facial skeleton development? During their vast experience in adenoid and metadenoid pathologies in infancy the authors have, at times, observed significant maxillo-facial dysmorphisms. They have likewise found that "facies adenoidea" were not always associated with hypertrophy of the pharyngeal tonsil.(ABSTRACT TRUNCATED AT 250 WORDS)

  7. Unreliability of aortic size index to predict risk of aortic dissection in a patient with Turner syndrome

    PubMed Central

    Nijs, Jan; Gelsomino, Sandro; Lucà, Fabiana; Parise, Orlando; Maessen, Jos G; Meir, Mark La

    2014-01-01

    Aortic size index (ASI) has been proposed as a reliable criterion to predict risk for aortic dissection in Turner syndrome with significant thresholds of 20-25 mm/m2. We report a case of aortic arch dissection in a patient with Turner syndrome who, from the ASI thresholds proposed, was deemed to be at low risk of aortic dissection or rupture and was not eligible for prophylactic surgery. This case report strongly supports careful monitoring and surgical evaluation even when the ASI is < 20 mm/m2 if other significant risk factors are present. PMID:24944765

  8. A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.

    PubMed

    Reamon-Buettner, Stella Marie; Ciribilli, Yari; Inga, Alberto; Borlak, Juergen

    2008-05-15

    Hypoplasia of the human heart is the most severe form of congenital heart disease (CHD) and usually lethal during early infancy. It is a leading cause of neonatal loss, especially in infants diagnosed with hypoplastic left heart syndrome (HLHS), a condition where the left side of the heart including the aorta, aortic valve, left ventricle (LV) and mitral valve are underdeveloped. The molecular causes of HLHS are unclear, but the basic helix-loop-helix (bHLH) transcription factor heart and neural crest derivatives expressed 1 (Hand1), may be a candidate culprit for this condition. The absence of Hand1 in mice resulted in the failure of rightward looping of the heart tube, a severely hypoplastic LV and outflow tract abnormalities. Nonetheless, no HAND1 mutations associated with human CHD have been reported so far. We sequenced the human HAND1 gene in heart tissues derived from 31 unrelated patients diagnosed with hypoplastic hearts. We detected in 24 of 31 hypoplastic ventricles, a common frameshift mutation (A126fs) in the bHLH domain, which is necessary for DNA binding and combinatorial interactions. The resulting mutant protein, unlike wild-type (wt) HAND1, was unable to modulate transcription of reporter constructs containing specific DNA-binding sites. Thus, in hypoplastic human hearts HAND1 function is impaired.

  9. 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.

  10. Banding for type IA endoleak after endovascular abdominal aortic repair: An underexposed treatment option.

    PubMed

    van Lammeren, G W; Ünlü, Ç; De Vries, J P P M

    2016-04-01

    More challenging abdominal aortic aneurysms with unfavorable proximal aortic neck anatomy are treated with endovascular means. As a consequence, proximal inadequate sealing may result in type IA endoleak, which in turn can lead to abdominal aortic aneurysm progression or rupture. The presence of type IA endoleak is an indication for secondary interventions. External aortic banding can be a good option to solve a type IA endoleak, but is underreported in literature; we present two cases and review literature.

  11. Survival of an aortic trauma patient with Ehlers-Danlos syndrome type IV: a case report.

    PubMed

    Levine, M P

    2000-12-01

    Ehlers-Danlos syndrome type IV is the most lethal variant of that illness and is associated with fatal large vessel arterial hemorrhages. The literature reports only two survivors of elective aortic surgery and two survivors of spontaneous aortic hemorrhage. This article presents a 14-year-old boy who had aortic and vena cava blunt trauma and survived.

  12. [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

  13. 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. PMID:27581225

  14. Preoperative evaluation of a patient for abdominal aortic aneurysm repair.

    PubMed Central

    Chonchubhair, A. N.; Cunningham, A. J.

    1998-01-01

    Coexistent cardiovascular disease is common in patients presenting for repair of aortic aneurysms. However, preoperative cardiac evaluation prior to abdominal aortic aneurysm (AAA) surgery remains contentious with significant variations in practice between countries, institutions and individual anesthetists. The following case report raises some everyday issues confronting clinical anesthetists. PMID:10604782

  15. Transcatheter aortic valve implantation.

    PubMed

    Kapadia, Samir R; Tuzcu, E Murat

    2009-12-01

    Aortic stenosis is the most important valvular heart disease affecting the elderly population. Surgical aortic valve replacement is the mainstay of treatment, although a substantial number of patients are considered high risk for surgery. Many of these patients do not undergo surgery and have poor outcomes from medically treated symptomatic, severe aortic stenosis. Transcatheter aortic valve implantation (TAVI) provides a promising treatment option for some of these patients. Several devices are under investigation. The Edwards Sapien valve (Edwards Lifesciences, Irvine, CA) and the CoreValve (Medtronic, Minneapolis, MN) have the largest human experience to date. Initial data suggest that these devices have an acceptable safety profile and provide excellent hemodynamic relief of aortic stenosis. The Edwards Sapien valve is currently under investigation in the United States in the PARTNER (Placement of Aortic Transcatheter Valve) trial in high-risk surgical or inoperable patients; TAVI is available for clinical use in both Canada and Europe. TAVI is not used in low- or intermediate-risk surgical patients; however, future studies may prove its applicability in these subsets. The major complications of TAVI include access site-related problems and device malpositioning/migration. There are several new-generation prosthetic valves and delivery systems designed to be low profile and repositionable. Technical advances and refinement of the implantation methods may make TAVI even safer and ultimately a better treatment option, not only for patients with high surgical risk but also for those with moderate or low risk.

  16. Syncope as initial presentation of kommerell diverticulum.

    PubMed

    Cohen, Ronny; Loarte, Pablo; Garcia, Christine; Diaz, Lizmer; Mirrer, Brooks

    2012-06-01

    Kommerell diverticulum (KD) is an aortic arch diverticulum at the origin of an aberrant subclavian artery. It is a rare anatomical anomaly that can be associated with a double aortic arc, a left aortic arch, and anomalous origin of the right subclavian artery or a right aortic arch with anomalous left subclavian artery. We present a case of KD presenting initially as syncope, as well as a review of the literature of this rare syndrome, including diagnosis, imaging techniques, and current surgical treatments.

  17. Composite graft tear and aortico-left ventricular tunnel after aortic root replacement using Cabrol's technique.

    PubMed

    Chu, J J; Chang, J P; Lin, P J; Chang, C H

    2000-02-01

    Woven graft tera is a very rare complication after aortic root replacement using Cabrol's technique. In this report, we present a 40-year-old man with aortic annular ectasia and severe aortic regurgitation who underwent four revisional aortic valve operations because of recurrent paravalvular leakage after valve repair and/or replacement. The Bentall operation with translocated aortic valve and Cabrol's coronary artery anastomosis were performed in the fifth operation, because of progressive dilatation of the aortic root and ascending aorta. Unfortunately, aortico-ventricular tunnel developed 2 years after aortic root replacement using Cabrol's technique. Graft tear and proximal anastomotic leakage were found to be the cause of the tunnel during the sixth operation. The patient died of myocardial failure 8 days after the seventh aortic root replacement operation. The devastating result of this complication should alert cardiovascular surgeons to the possibility of graft failure after the Bentall operation.

  18. A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).

    PubMed

    Li, Lin; Wei, Jueyang

    2006-07-15

    The combination of anophthalmia and pulmonary hypoplasia with abnormal lobation is an extremely rare congenital disorder. We describe a case of a female newborn with these features that fits the recently described Matthew-Wood syndrome.

  19. 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...

  20. Isolated foveal hypoplasia: report of a new case and detailed genetic investigation.

    PubMed

    Al-Saleh, Ahmed A; Hellani, Ali; Abu-Amero, Khaled K

    2011-04-01

    To carry out an ophthalmological and detailed genetic investigation on a 7-year-old boy with isolated foveal hypoplasia. A full ophthalmological examination and optical coherence tomography (OCT) was performed. We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated with aniridia. His eye examination was normal with no iris transillumination. A fundus examination, however, showed classic signs of foveal hypoplasia. A molecular genetic investigation showed no mutation(s) in all genes screened and no chromosomal deletion(s) and/or duplication(s) were detected. We report a case of isolated foveal hypoplasia where the underlying genetic cause could not be established. We could not rule out other genetic or epigenetic factors contributing to the pathogenesis of isolated foveal hypoplasia. PMID:21264491

  1. 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

  2. Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment.

    PubMed

    Cain, Jason E; Di Giovanni, Valeria; Smeeton, Joanna; Rosenblum, Norman D

    2010-08-01

    Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factors and molecular mechanisms that regulate nephron endowment and kidney size. Here, we review current knowledge regarding the genetic contributions to renal hypoplasia with particular emphasis on the mechanisms that control nephron endowment in humans and mice.

  3. The chronological distribution of enamel hypoplasias from prehistoric Dickson Mounds populations.

    PubMed

    Goodman, A H; Armelagos, G J; Rose, J C

    1984-11-01

    The chronological distributions of enamel hypoplasias (indicators of nonspecific stress) are assessed for 111 individuals from two prehistoric populations from Dickson Mounds, Lewiston, Illinois. The earlier population (circa A.D. 950-1150) involves a transition from an indigenous gathering-hunting tradition to increasing adoption of Mississippian lifeways. The later population (circa A.D. 1150-1300) is fully Mississippian (MM). Based on the occurrence of hypoplasias on all permanent teeth except third molars, 14 half-year periods from birth to 7.0 years are graded for evidence of hypoplasia-stress. Both populations have a low frequency of hypoplasia which occur before 2 years of age and after 4 years of age. A common peak frequency of hypoplasias between 2.0 and 4.0 years is suggestive of an elevated degree of stress at weaning. The peak frequency of hypoplasias is earlier in the MM (2.5-3.0 years versus 3.0-3.5 years in the pre-Mississippian population). In addition, the rise to and decline from peak frequency occurs approximately 0.5 years earlier in the MM. The earlier and sharper rise to peak frequency suggests earlier and more severe weanling-related stress. Hypoplasias chronologies are undoubtedly influenced by age-related host resistance factors (Sarnat and Schour, 1941). Nevertheless, these data demonstrate that populations may vary in their chronological distribution of hypoplasias and that these variations may provide useful information on age-related patterns of exposure to environmental stressors.

  4. 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

  5. Type B Aortic Dissection: A Review of Prognostic Factors and Meta-analysis of Treatment Options Based on a Presentation at the 2013 VEITH Symposium, November 19–23, 2013 (New York, NY, USA)

    PubMed Central

    Luebke, Thomas; Brunkwall, Jan

    2014-01-01

    According to international guidelines, stable patients with uncomplicated Type B aortic dissection (TBAD) should receive optimal medical treatment. Despite adequate antihypertensive therapy, the long-term prognosis of these patients is characterized by a significant aortic aneurysm formation in 25-30% within four years, and survival rates from 50 to 80% at five years and 30 to 60% at 10 years. In a prospective randomized trial, preemptive thoracic endovascular aortic repair (TEVAR) in patients with chronic uncomplicated TBAD was associated with an excess early mortality (due to periprocedural hazards), but the procedure showed its benefit in prevention of aortic-specific mortality at five years of follow-up. However, preemptive TEVAR may not be the treatment of choice in all patients with uncomplicated TBAD because of the inherent periprocedural complications like stroke, paraparesis, and death, as well as stent graft-induced complications (i.e., retrograde dissection or endoleaks). Thus, the TEVAR-related deaths and complications (especially paraplegia and stroke) raise concerns that moderate the better survival with TEVAR at five years. By timely identification of those patients prone for developing complications, early intervention, preferably in the subacute or early chronic phase, may improve the overall long-term outcome for these patients. Therefore, early detectable and reliable prognostic factors for adverse events are essential to stratify patients who can be treated medically and those who will benefit from rigorous follow-up and, in the long-term, from timely, or even prophylactic, TEVAR. Several studies have identified prognostic factors in TBAD such as aortic diameter, partial false lumen thrombosis, false lumen thickness, and location of the primary entry tear. Combining these clinical and radiological predictors may be essential to implement a patient-specific approach designed to intervene only in those patients who are at high risk of developing

  6. Enamel hypoplasia in ancestral Puebloan populations from southwestern Colorado: I. Permanent Dentition.

    PubMed

    Malville, N J

    1997-03-01

    Dental enamel hypoplasias are used to examine metabolic disruption experienced during early childhood by ancestral Puebloan (Anasazi) inhabitants of southwestern Colorado. The hypoplasia sample consists of the permanent anterior dentition from 147 individuals from Montezuma County and Mesa Verde National Park. Using the individual as the basis of analysis, the study compares different time periods of occupation of the region with respect to prevalence and timing of hypoplasia occurrence. The frequency of enamel hypoplasia in the combined regional sample is high, affecting 90% of the individuals and 66% of the anterior teeth. The earliest onset of hypoplasia in individuals occurs most commonly at 2.5-3.0 years, and the peak age of enamel disruption in 3.0-3.5 years. There are no significant differences in hypoplasia frequency or timing between males and females or between adults and subadults. The level of childhood stress appears to have increased significantly with time from the Basketmaker III to the Pueblo I and Pueblo II periods, then decreased slightly during the Pueblo III. The differences between the Pueblo I, II, and III periods are not significant. The Pueblo II sample from Yellow Jacket Canyon sites 5MT1 and 5MT3 and the Dolores Pueblo I sample show the highest levels of childhood stress in comparison to other Puebloan populations inhabiting this region prior to A.D. PMID:9098504

  7. Enamel hypoplasia in ancestral Puebloan populations from southwestern Colorado: I. Permanent Dentition.

    PubMed

    Malville, N J

    1997-03-01

    Dental enamel hypoplasias are used to examine metabolic disruption experienced during early childhood by ancestral Puebloan (Anasazi) inhabitants of southwestern Colorado. The hypoplasia sample consists of the permanent anterior dentition from 147 individuals from Montezuma County and Mesa Verde National Park. Using the individual as the basis of analysis, the study compares different time periods of occupation of the region with respect to prevalence and timing of hypoplasia occurrence. The frequency of enamel hypoplasia in the combined regional sample is high, affecting 90% of the individuals and 66% of the anterior teeth. The earliest onset of hypoplasia in individuals occurs most commonly at 2.5-3.0 years, and the peak age of enamel disruption in 3.0-3.5 years. There are no significant differences in hypoplasia frequency or timing between males and females or between adults and subadults. The level of childhood stress appears to have increased significantly with time from the Basketmaker III to the Pueblo I and Pueblo II periods, then decreased slightly during the Pueblo III. The differences between the Pueblo I, II, and III periods are not significant. The Pueblo II sample from Yellow Jacket Canyon sites 5MT1 and 5MT3 and the Dolores Pueblo I sample show the highest levels of childhood stress in comparison to other Puebloan populations inhabiting this region prior to A.D.

  8. Reoperative transapical transcatheter aortic valve replacement for central aortic regurgitation.

    PubMed

    Zhu, Yuanjia; Kapadia, Samir; Krishnaswamy, Amar; Svensson, Lars G; Mick, Stephanie

    2016-09-01

    Paravalvular leak-related aortic regurgitation after transcatheter aortic valve replacement (TAVR) is a common complication and is associated with increased short- and long-term mortality. However, the impact of isolated central aortic regurgitation is unknown. We report a case of transapical (TA) TAVR with postprocedural central aortic regurgitation, who returned after two years with progression of regurgitation. A reoperative valve-in-valve TA-TAVR was performed. PMID:27405799

  9. Surgical Aortic Valvuloplasty Versus Balloon Aortic Valve Dilatation in Children.

    PubMed

    Donald, Julia S; Konstantinov, Igor E

    2016-09-01

    Balloon aortic valve dilatation (BAD : is assumed to provide the same outcomes as surgical aortic valvuloplasty (SAV). However, the development of precise modern surgical valvuloplasty techniques may result in better long-term durability of the aortic valve repair. This review of the recent literature suggests that current SAV provides a safe and durable repair. Furthermore, primary SAV appears to have greater freedom from reintervention and aortic valve replacement when compared to BAD. PMID:27587493

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

    PubMed Central

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

    2016-01-01

    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. PMID:26884405

  11. Hybrid Endovascular Repair in Aortic Arch Pathologies: A Retrospective Study

    PubMed Central

    Ma, Xiaohui; Guo, Wei; Liu, Xiaoping; Yin, Tai; Jia, Xin; Xiong, Jiang; Zhang, Hongpeng; Wang, Lijun

    2010-01-01

    The aortic arch presents specific challenges to endovascular repair. Hybrid repair is increasingly evolving as an alternative option for selected patients, and promising initial results have been reported. The aim of this study was to introduce our experiences and evaluate mid-term results of supra aortic transpositions for extended endovascular repair of aortic arch pathologies. From December 2002 to January 2008, 25 patients with thoracic aortic aneurysms and dissections involving the aortic arch were treated with hybrid endovascular treatment in our center. Of the 25 cases, 14 were atherosclerotic thoracic aortic aneurysms and 11 were thoracic aortic dissection. The hybrid repair method included total-arch transpositions (15 cases) or hemi-arch transpositions (10 cases), and endovascular procedures. All hybrid endovascular procedures were completed successfully. Three early residual type-I endoleaks and one type-II endoleak were observed. Stroke occurred in three patients (8%) during the in-hospital stage. The perioperative mortality rate was 4%; one patients died post-operatively from catheter related complications. The average follow-up period was 15 ± 5.8 months (range, 1–41 months). The overall crude survival rate at 15 months was 92% (23/25). During follow-up, new late endoleaks and stent-raft related complications were not observed. One case (4%) developed a unilateral lower limb deficit at 17 days and was readmitted to hospital. In conclusion, the results are encouraging for endovascular aortic arch repair in combination with supra-aortic transposition in high risk cases. Aortic endografting offers good mid-term results. Mid-term results of the hybrid approach in elderly patients with aortic arch pathologies are satisfying. PMID:21151464

  12. Screening for Abdominal Aortic Aneurysm

    MedlinePlus

    Understanding Task Force Recommendations Screening for Abdominal Aortic Aneurysm The U.S. Preventive Services Task Force (Task Force) ... final recommendation statement on Screening for Abdominal Aortic Aneurysm. This final recommendation statement applies to adults ages ...

  13. Transient Ischemic Attacks of Spinal Cord due to Abdominal Aortic Aneurysm Thrombus.

    PubMed

    Ates, Ihsan; Kaplan, Mustafa; Özçalık, Merve; Yılmaz, Nisbet

    2016-01-01

    Thrombosis due to abdominal aortic aneurysm is a rare condition that causes high mortality. Transient ischemic attack of the spinal cord can occur as a result of trash emboli from thrombus in abdominal aortic aneurysm. This condition generally occurs during operation of abdominal aortic aneurysm; very rarely, it can also be seen in laminated abdominal aortic aneurysm. Here, we present a case of a patient presenting with bilateral lower extremity paralysis resulting from transient ischemic attack of the spinal cord due to infrarenal abdominal aortic aneurysm. PMID:26520423

  14. 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.

  15. Aneurysms: thoracic aortic aneurysms.

    PubMed

    Chun, Kevin C; Lee, Eugene S

    2015-04-01

    Thoracic aortic aneurysms (TAAs) have many possible etiologies, including congenital heart defects (eg, bicuspid aortic valves, coarctation of the aorta), inherited connective tissue disorders (eg, Marfan, Ehlers-Danlos, Loeys-Dietz syndromes), and degenerative conditions (eg, medial necrosis, atherosclerosis of the aortic wall). Symptoms of rupture include a severe tearing pain in the chest, back, or neck, sometimes associated with cardiovascular collapse. Before rupture, TAAs may exert pressure on other thoracic structures, leading to a variety of symptoms. However, most TAAs are asymptomatic and are found incidentally during imaging for other conditions. Diagnosis is confirmed with computed tomography scan or echocardiography. Asymptomatic TAAs should be monitored with imaging at specified intervals and patients referred for repair if the TAAs are enlarging rapidly (greater than 0.5 cm in diameter over 6 months for heritable etiologies; greater than 0.5 cm over 1 year for degenerative etiologies) or reach a critical aortic diameter threshold for elective surgery (5.5 cm for TAAs due to degenerative etiologies, 5.0 cm when associated with inherited syndromes). Open surgery is used most often to treat asymptomatic TAAs in the ascending aorta and aortic arch. Asymptomatic TAAs in the descending aorta often are treated medically with aggressive blood pressure control, though recent data suggest that endovascular procedures may result in better long-term survival rates. PMID:25860136

  16. [Thoracoabdominal aortic aneurysm].

    PubMed

    Kalder, J; Kotelis, D; Jacobs, M J

    2016-09-01

    Thoracoabdominal aortic aneurysms (TAAA) are rare events with an incidence of 5.9 cases per 100,000 persons per year. In Germany approximately 940 TAAA procedures are performed annually. The cause of TAAA is mostly degenerative but they can also occur on the basis of an aortic dissection or connective tissue disease (e. g. Marfan's syndrome). Patients often have severe comorbidities and suffer from hypertension, coronary heart disease or chronic obstructive pulmonary disease, mostly as a result of smoking. Operative treatment is indicated when the maximum aortic diameter has reached 6 cm (> 5 cm in patients with connective tissue disease) or the aortic diameter rapidly increases (> 5 mm/year). Treatment options are open surgical aortic repair with extracorporeal circulation, endovascular repair with branched/fenestrated endografts and parallel grafts (chimneys) or a combination of open and endovascular procedures (hybrid procedures). Mortality rates after both open and endovascular procedures are approximately 8 % depending on the extent of the repair. Furthermore, there are relevant risks of complications, such as paraplegia (up to 20 %) and the necessity for dialysis. In recent years several approaches to minimize these risks have been proposed. Besides cardiopulmonary risk evaluation, clinical assessment of patients by the physician with respect to the patient-specific anatomy influences the allocation of patients to one treatment option or another. Surgery of TAAA should ideally be performed in high-volume centers in order to achieve better results. PMID:27558261

  17. Quadricuspid aortic valves.

    PubMed

    Timperley, Jonathan; Milner, Robert; Marshall, Andrew J; Gilbert, Timothy J

    2002-12-01

    Quadricuspid aortic valves (QAV) are a rare but well recognized cause of significant aortic regurgitation. The first case was found reported in 1862. Since then there have been 110 reported cases of QAV and we report 4 more. Previously, these were diagnosed at the time of surgery or postmortem examination. With advances in echocardiography, including harmonic imaging, and also the advent of transesophageal echocardiography, more cases are being diagnosed prior to surgery. We describe four more cases, three diagnosed preoperatively and one at the time of surgery, and then review the previously reported cases. Of the 114 cases reported, 46 had the aortic valve replaced, most commonly in the 5th and 6th decade of life. Hurwitz and Roberts classified quadricuspid valves according to the size of the leaflets. It has previously been believed that QAVs with four equal sized leaflets were less likely to develop significant aortic regurgitation; however, on review of the available cases, this would not appear to be the case. The preoperative diagnosis of QAVs is important as they can be associated with abnormally placed coronary ostium. Of the 114 cases reported, there are 10 reports of abnormally placed ostia. There has been at least one reported case of death occurring because of obstruction of an abnormally placed right coronary ostium by a prosthetic aortic valve.

  18. Awake transapical aortic valve implantation.

    PubMed

    Petridis, Francesco Dimitri; Savini, Carlo; Castelli, Andrea; Di Bartolomeo, Roberto

    2012-05-01

    Transapical aortic valve implantation is being employed as a less invasive alternative to open heart surgery in high-risk patients with severe aortic stenosis. Here we report the case of an awake transapical aortic valve implantation in a patient with severe chronic obstructive pulmonary disease.

  19. Proximal aortic dissection (dissecting aortic aneurysm) in a mature ostrich.

    PubMed

    Ferreras, M C; González, J; Pérez, V; Reyes, L E; Gómez, N; Pérez, C; Corpa, J M; García-Marín, J F

    2001-01-01

    The gross and histopathologic lesions observed in a case of spontaneous proximal aortic dissection (dissecting aortic aneurysm) in a mature ostrich are reported. At necropsy, a dissecting intramural hematoma was seen in the proximal aorta, extended about 12 cm distally from the aortic valves. Histopathologic changes in aortic dissection included fragmentation and disruption of elastic laminae, presence of cystic extracellular spaces, and pooling of ground substance in the tunica media. Hepatic copper levels were measured, and the low concentration found suggested that a copper deficiency together with other risk factors such as the elevation of blood pressure may have been implicated in the development of the aortic dissection seen in this ostrich.

  20. 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.

  1. Delayed aortic rupture resulting from postoperative superficial sternal wound infection

    PubMed Central

    Kim, Su Wan; Chang, Jee Won

    2016-01-01

    While deep sternal wound infection (DSWI) after cardiac surgery is a significant contributor to patient morbidity and mortality, superficial sternal wound infection (SSWI) mostly has a benign course. We report a mortality case of aortic rupture resulting from SSWI after cardiac surgery. A 50-year-old male underwent an aortic valve replacement (AVR). Three months after the valve operation, he presented with severe dyspnea, which had never before been observed, and chest computed tomography revealed an ascending aortic rupture with large hematoma compressing the main pulmonary artery. We performed an emergent operation for aortic rupture that possibly originated from the SSWI. Postoperatively, the patient died of hypovolemic shock due to recurrent aortic rupture despite efforts to resuscitate him. PMID:27499988

  2. A case of neonatal arterial thrombosis mimicking interrupted aortic arch

    PubMed Central

    Gürsu, Hazım Alper; Varan, Birgül; Oktay, Ayla; Özkan, Murat

    2015-01-01

    Neonatal arterial thrombosis is a very rare entity with clinical findings resembling coarctation of aorta or interrupted aortic arch. A two day-old male newborn was admitted to a different hospital with difficulty in sucking and sleepiness. On echocardiographic examination, a diagnosis of interrupted aortic arch was made and he was treated with prostoglandin E2. When the patient presented to our center, physical examination revealed that his feet were bilaterally cold. The pulses were not palpable and there were ecchymotic regions in the lower extremities. Echocardiography ruled out interrupted aortic arch. Computerized tomographic angiography revealed a large thrombosis and total occlusion of the abdominal aorta. Since there was no response to treatment with tissue plasminogen activator, we performed thrombectomy. Homozygous Factor V Leiden and Methylenetetrahydrofolate reductase mutations were found in this patient. Neonatal aortic thrombosis which is observed very rarely and fatal should be considered in the differential diagnosis of coarctation of aorta and interrupted aortic arch. PMID:26265897

  3. Transcatheter Aortic Valve Implantation.

    PubMed

    Malaisrie, S Chris; Iddriss, Adam; Flaherty, James D; Churyla, Andrei

    2016-05-01

    Severe aortic stenosis (AS) is a life-threatening condition when left untreated. Aortic valve replacement (AVR) is the gold standard treatment for the majority of patients; however, transcatheter aortic valve implantation/replacement (TAVI/TAVR) has emerged as the preferred treatment for high-risk or inoperable patients. The concept of transcatheter heart valves originated in the 1960s and has evolved into the current Edwards Sapien and Medtronic CoreValve platforms available for clinical use. Complications following TAVI, including cerebrovascular events, perivalvular regurgitation, vascular injury, and heart block have decreased with experience and evolving technology, such that ongoing trials studying TAVI in lower risk patients have become tenable. The multidisciplinary team involving the cardiac surgeon and cardiologist plays an essential role in patient selection, procedural conduct, and perioperative care.

  4. 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.

  5. Leaking mycotic abdominal aortic aneurysm.

    PubMed

    Sing, T M; Young, N; O'Rourke, I C; Tomlinson, P

    1994-11-01

    A case of leaking mycotic abdominal aortic aneurysm is reported, with a brief review of the literature. A 58 year old female presented with shoulder and abdominal pain associated with diarrhoea, vomiting and fever with leucocytosis. Computed tomography of the abdomen showed pooling of contrast in the retroperitoneum anterior to a non-dilated abdominal aorta. There was considerable retroperitoneal blood accumulating in a mass-like lesion in the right lower abdomen and pelvis obstructing the right renal collecting system. Laparotomy revealed a 4 cm diameter saccular aneurysm of the abdominal aorta, with a 1 cm diameter neck. Culture of the thrombus grew Streptococcus pyogenes. PMID:7993259

  6. Endovascular Repair of an Anastomotic Leak Following Open Repair of Abdominal Aortic Aneurysm

    SciTech Connect

    Mofidi, R. Flett, M.; Milne, A.; Chakraverty, S.

    2007-09-15

    This report describes the case of an early postoperative anastomotic leak following elective open repair of an infrarenal abdominal aortic aneurysm which was successfully treated by endovascular stent-grafting. A 71-year-old man underwent open tube graft repair of abdominal aortic aneurysm. Twelve days later he presented with a contained leak from the distal anastomosis, which was confirmed on CT scan. This was successfully treated with a bifurcated aortic stent-graft. This case illustrates the usefulness of the endovascular approach for resolving this rare surgical complication of open repair of abdominal aortic aneurysm and the challenges associated with the deployment of such a device within an aortic tube graft.

  7. Unusual findings in secondary hypertension: double orifice mitral associated to aortic coarctation, bicuspid aortic valve, and ventricular septal defect.

    PubMed

    Mouine, Najat; Amri, Rachida; Cherti, Mohamed

    2014-01-01

    Double orifice mitral valve is a rare congenital anomaly presenting as the division of the mitral orifice into two anatomically distinct orifices, it is most often associated with other congenital heart defects such as left-sided obstructive lesions, ventricular septal defects or aortic coarctation. We report the case of a 15 year's old boy, admitted for arterial hypertension, auscultation revealed a rude aortic systolic murmur. Femoral pulses were weak. Owing to the suspicion of aortic coarctation, transthoracic echocardiography was performed, the aortic coarctation with dilation of the aorta proximal to the stenosis was confirmed and bicuspid aortic valve was found with good function. The mitral valve was dysmorphic, having two orifices; it was divided into 2 separate valve orifices by a fibrous bridge. No mitral or aortic regurgitation was documented by color Doppler flow imaging. The left ventricular ejection fraction was normal. There was a small peri membranous ventricular septal defect with left to right shunt. Owing to the severity of the aortic coarctation and taking into account the anatomy and characteristics of the patient, he was made a surgical correction of aortic coarctation with good outcome. PMID:24693935

  8. RXRalpha overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRalpha-null fetuses.

    PubMed

    Subbarayan, V; Mark, M; Messadeq, N; Rustin, P; Chambon, P; Kastner, P

    2000-02-01

    Retinoid X receptor alpha-null (RXRalpha-null) mutants exhibit hypoplasia of their ventricular myocardium and die at the fetal stage. In the present study, we wished to determine whether transgenic re-expression of RXRalpha in mutant cardiac myocytes could rescue these defects. Two transgenic mouse lines specifically overexpressing an RXRalpha protein in cardiomyocytes were generated, using the cardiac alpha-myosin heavy chain (alpha-MHC) promoter. Breeding the high copy number transgenic line onto an RXRalpha-null genetic background did not prevent the myocardial hypoplasia and fetal lethality associated with the RXRalpha(-/-) genotype, even though the transgene was expressed in the ventricles as early as 10. 5 days post-coitum. These data suggest that the RXRalpha function involved in myocardial growth may correspond to a non-cell-autonomous requirement forsignal orchestrating the growth and differentiation of myocytes. Interestingly, the adult transgenic mice developed a dilated cardiomyopathy, associated with myofibrillar abnormalities and specific deficiencies in respiratory chain complexes I and II, thus providing an additional model for this genetically complex disease. PMID:10675365

  9. A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

    PubMed Central

    Shastry, Savitha; Simha, Vinaya; Godbole, Koumudi; Sbraccia, Paolo; Melancon, Serge; Yajnik, Chittaranjan S.; Novelli, Giuseppe; Kroiss, Matthias; Garg, Abhimanyu

    2010-01-01

    Context: Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes. Objective: The objective of the study was to report a novel syndrome with some overlapping features with MAD. Results: We report seven patients with mandibular hypoplasia, deafness, progeroid features (MDP), and associated lipodystrophy. These patients have similar features to MAD patients such as hypoplastic mandible, beaked nose, stiff joints, and sclerodermatous skin. However, the patients did not harbor any disease causing variants in LMNA or ZMPSTE24 and showed distinct characteristics such as sensorineural hearing loss and absence of clavicular hypoplasia and acroosteolysis. All males with MDP had undescended testes and were hypogonadal. One adult female showed lack of breast development. Skinfold thickness, dual-energy X-ray absorptiometry and whole-body magnetic resonance imaging for body fat distribution revealed a lack of lipodystrophy in a prepubertal female but a progressive loss of sc fat presenting with partial lipodystrophy in young adults and generalized lipodystrophy in older patients. Conclusions: Patients with MDP syndrome have a few overlapping but some distinct clinical features as compared with MAD, suggesting that it is a novel syndrome. The molecular basis of MDP syndrome remains to be elucidated. PMID:20631028

  10. Aortic wraps a modification to aortic grafting.

    PubMed

    Gordon, J A

    1989-09-01

    Aortic wrapping has been attempted on occasion when the standard replacement of a diseased lower third of the aorta by a trouser graft is not feasible. Cellophane has been the most common agent employed, but these wraps have met with minimal success and on occasion has even been passed rectally. Kartchner and Lovett have reviewed the techniques and results of the later procedures replacing the cellophane wraps. In most instances a Dacron sheet was utilized. Six cases are reviewed from a solo private practice in which a standard trouser graft replacement was varied by using an alternative form of wrapping.

  11. ED 02-1 ACUTE AORTIC SYNDROME.

    PubMed

    Song, Jae-Kwan

    2016-09-01

    The successful clinical introduction of various non-invasive imaging modalities has contributed to the establishment of 'acute aortic syndrome', a relatively new clinical syndrome incorporating several disease entities with similar clinical features (at the time of clinical presentation). Aortic dissection (AD) with intimal flap and two aortic channels (true and false lumens) is the most important disease entity in acute aortic syndrome. Clinical characteristics of AD have been established, with standardized treatment strategies depending on the affected site of the aorta. For the past several decades, variant forms of classic AD, including aortic intramural hematoma (IMH) and incomplete dissection, have been increasingly diagnosed in routine clinical practice worldwide, and imaging findings characteristic of these variant forms have been established for their differential diagnosis. As imaging findings, rather than clinical features, are critical for the differential diagnosis of acute aortic syndrome, careful interpretation of imaging results is necessary for accurate diagnosis and better clinical decision-making, thus improving patient outcomes. IMH is probably the most important variant form of classic AD and has been the source of intense controversy regarding its pathogenesis and optimal treatment options. Clinical reports regarding outcomes of patients with IMH from different centers have shown conflicting results and risk stratification based on imaging findings remains a challenging clinical issue.Intimal tears can have a very wide spectrum. For example, a stellate or linear intimal tear can involve the exposure of the underlying aortic media or adventitial layers but without the progression and separation of the medial layers, resulting in extensive undermining of the intimal layers. This incomplete dissection, characterized by an intimal tear without an intimal flap or hematoma, was reported to be present in 9 of 181 (5%) consecutive patients with

  12. A huge saccular aortic aneurysm compressing right coronary artery 7 years after aortic valve replacement due to bicuspid aortic valve insufficiency

    PubMed Central

    Park, Sang Min; Jeong, Haemin; Hong, Kyung-Soon; Kim, Christopher

    2016-01-01

    Abstract Background: In a patient underwent aortic valve replacement (AVR) due to bicuspid aortic valve (BAV) insufficiency without marked dilation of ascending aorta, the development of delayed-typed aneurysmal complication of ascending aorta has been often reported because the dilated aorta tends to grow insidiously with age. Case summary: A 58-year-old man who underwent AVR with mechanical valve due to severe aortic regurgitation secondary to BAV 7 years previously presented with exertional chest discomfort for 1 year. An echocardiography showed a well-functioning mechanical aortic valve without any significant abnormal findings. Cardiac multidetector computed tomography (MDCT) revealed a huge saccular aortic root aneurysm (79.7 mm × 72.8 mm in size) compressing the proximal right coronary artery resulting in ∼90% eccentric diffuse luminal narrowing. The patient subsequently underwent open-heart surgery with resection of the ascending aortic aneurysmal sac and consecutive ascending aorta and hemi-arch replacement using a graft. Conclusion: After successful AVR in the patient with BAV insufficiency and mildly dilated ascending aorta, a regular aortic imaging such as cardiac MDCT with aortography would be helpful to monitor the morphology and size of ascending aorta and related complications to guide future management. PMID:27749539

  13. Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism

    PubMed Central

    Loureiro, Marta; Reis, Filipa; Robalo, Brígida; Pereira, Carla; Sampaio, Lurdes

    2015-01-01

    Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC) was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG), confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism. PMID:26500747

  14. [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.

  15. 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.

  16. Molecular mechanisms underlying the onset of degenerative aortic valve disease.

    PubMed

    Hakuno, Daihiko; Kimura, Naritaka; Yoshioka, Masatoyo; Fukuda, Keiichi

    2009-01-01

    Morbidity from degenerative aortic valve disease is increasing worldwide, concomitant with the ageing of the general population and the habitual consumption of diets high in calories and cholesterol. Immunohistologic studies have suggested that the molecular mechanism occurring in the degenerate aortic valve resembles that of atherosclerosis, prompting the testing of HMG CoA reductase inhibitors (statins) for the prevention of progression of native and bioprosthetic aortic valve degeneration. However, the effects of these therapies remain controversial. Although the molecular mechanisms underlying the onset of aortic valve degeneration are largely unknown, research in this area is advancing rapidly. The signaling components involved in embryonic valvulogenesis, such as Wnt, TGF-beta(1), BMP, and Notch, are also involved in the onset of aortic valve degeneration. Furthermore, investigations into extracellular matrix remodeling, angiogenesis, and osteogenesis in the aortic valve have been reported. Having noted avascularity of normal cardiac valves, we recently identified chondromodulin-I (chm-I) as a crucial anti-angiogenic factor. The expression of chm-I is restricted to cardiac valves from late embryogenesis to adulthood in the mouse, rat, and human. In human degenerate atherosclerotic valves, the expression of vascular endothelial growth factor (VEGF) and matrix metalloproteinases and angiogenesis is observed in the area of chm-I downregulation. Gene targeting of chm-I resulted in VEGF expression, angiogenesis, and calcification in the aortic valves of aged mice, and aortic stenosis is detected by echocardiography, indicating that chm-I is a crucial factor for maintaining normal cardiac valvular function by preventing angiogenesis. The present review focuses on the animal models of aortic valve degeneration and recent studies on the molecular mechanisms underlying the onset of degenerative aortic valve disease. PMID:18766323

  17. 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

  18. 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

  19. 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

    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

    2015-07-01

    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.

  20. 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

    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

    2015-07-01

    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

  1. Acute aortic syndrome: A systems approach to a time-critical disease.

    PubMed

    Kawabori, Masashi; Kaneko, Tsuyoshi

    2016-09-01

    Acute aortic syndrome represents a group of potentially lethal aortic diseases, including classic acute aortic dissection, intramural hematoma, and penetrating atherosclerotic aortic ulcer. Among these conditions, type A aortic dissection is the most common acute presentation. Only surgical interventions are recommended in guidelines as lifesaving procedures for type A dissection. Despite new diagnostic imaging methods, advanced surgical strategy, and improved postoperative management in the over 250-year history of aortic dissection, in-hospital mortality and morbidity rates still remain high. Recently, several new system-based approaches, such as implementation of multidisciplinary experienced high-volume centers and establishment of regional systematic management flow have been reported to improve the outcome. Here, we will describe the pathophysiology, diagnosis, and treatment as well as the new systematic approach to treat acute aortic syndrome. PMID:27650339

  2. 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.

  3. 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

  4. 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. PMID:24323494

  5. Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome).

    PubMed

    Motil, Kathleen J; Fete, Mary; Fete, Timothy J

    2016-03-01

    Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0.06) and weight (P < 0.001) z-scores of the participants were lower than the reference population. The mean head circumference (P < 0.001), height (length) (P < 0.001), weight (P < 0.01), and BMI (P < 0.05) for age z-scores of the participants were lower than the reference population. The height-for-age and weight-for-age z-scores of the participants did not differ significantly between birth and current measurements. Three-fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder. PMID:27001925

  6. 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

  7. Alternative surgical approach to treat aortic arch aneurysm after ascending aortic replacement with hybrid prosthesis.

    PubMed

    Zeitani, Jacob; Nardi, Paolo; Bellos, Kyriakos; De Propris, Silvia; Chiariello, Luigi

    2013-10-01

    We present a surgical technique to treat the distal aortic arch in patients who previously underwent ascending aortic replacement using the frozen elephant trunk. After debranching of the epiaortic vessels using a custom-made four-branch graft and systemic cooling, the extracorporeal circulation is interrupted, maintaining antegrade cerebral perfusion through the four-branch prosthesis. Then the "old" Dacron prosthesis, previously implanted for the ascending aortic replacement, is partially incised at its distal end, leaving a margin of prosthesis anastomosed to the native distal aorta, and the E-vita stent-graft is deployed under direct vision. Then the two margins of the "old" Dacron and the new Dacron E-vita prosthesis (Jotec Inc., Hechingen, Germany) are sutured together with one suture line to guarantee sealing and reconstruction of the aorta. This technique presents several advantages: the discrepancy between the graft size and the native aortic diameter is avoided, performing the anastomosis between two prosthetic materials with similar diameters is easier; there is no risk of tears in the diseased native aortic wall and related bleeding; and finally, it is easier to perform the anastomosis at the level of the ascending aorta rather than at the distal arch, especially when the disease of the aorta is extended to the descending segment.

  8. Patterns of enamel hypoplasia in two medieval populations from Nubia's Batn el Hajar.

    PubMed

    Van Gerven, D P; Beck, R; Hummert, J R

    1990-08-01

    Analysis of enamel hypoplasia frequencies for two medieval populations representing the earliest and latest Christian periods of ancient Nubia reveals important diachronic shifts in childhood stress. The mean frequency for hypoplastic bands among the early Christians is 4.2, while the late Christian sample has a mean frequency of 3.7. In addition, the earlier Christians show a prolongation of hypoplastic occurrences through childhood corresponding to a prolonged period of intensified childhood mortality. The modal time interval between hypoplastic occurrences is also shorter for the early Christian children. A comparison of hypoplasia frequencies by sex also reveals a pattern of considerable interest. Females show both lower frequencies of hypoplasias as well as a delay in onset. The diachronic differences are consistent with other indications from paleopathology and paleodemography that childhood stress decreased in later Christian times. The sex differences suggest that during the infancy and early childhood females were more resilient than their male counterparts.

  9. Painless Type B Aortic Dissection: Insights From the International Registry of Acute Aortic Dissection

    PubMed Central

    Tolenaar, Jip L.; Hutchison, Stuart J.; Montgomery, Dan; O'Gara, Patrick; Fattori, Rosella; Pyeritz, Reed E.; Pape, Linda; Suzuki, Toru; Evangelista, Arturo; Moll, Frans L.; Rampoldi, Vincenzo; Isselbacher, Eric M.; Nienaber, Cristoph A.; Eagle, Kim A.; Trimarchi, Santi

    2013-01-01

    Introduction: The classical presentation of a patient with Type B acute aortic dissection (TBAAD) is characterized by severe chest, back, or abdominal pain, ripping or tearing in nature. However, some patients present with painless acute aortic dissection, which can lead to a delay in diagnosis and treatment. We utilized the International Registry on Acute Aortic Dissections (IRAD) database to study these patients. Methods: We analyzed 43 painless TBAAD patients enrolled in the database between January 1996 and July 2012. The differences in presentation, diagnostics, management, and outcome were compared with patients presenting with painful TBAAD. Results: Among the 1162 TBAAD patients enrolled in IRAD, 43 patients presented with painless TBAAD (3.7%). The mean age of patients with painless TBAAD was significantly higher than normal TBAAD patients (69.2 versus 63.3 years, P = 0.020). The presence of atherosclerosis (46.4% versus 30.1%, P = 0.022), diabetes (17.9% versus 7.5%; P = 0.018), and other aortic diseases (8.6% versus 2.3%, P= 0.051), such as prior aortic aneurysm (31% versus 18.8% P = 0.049) was more common in these patients. Median delay time between presentation and diagnosis was longer in painless patients (median 34.0 versus 19.0 hours; P = 0.006). Dissection of iatrogenic origin (19.5% versus 1.3%; P < 0.001) was significantly more frequent in the painless group. The in-hospital mortality was 18.6% in the painless group, compared with an in-hospital mortality of 9.9% in the control group (P = 0.063). Conclusion: Painless TBAAD is a relatively rare presentation (3.7%) of aortic dissection, and is often associated with a history of atherosclerosis, diabetes, prior aortic disease including aortic aneurysm, and an iatrogenic origin. We observed a trend for increased in-hospital mortality in painless TBAAD patients, which may be the result of a delay in diagnosis and management. Therefore, physicians should be aware of this relative rare presentation of

  10. First direct aortic retrievable transcatheter aortic valve implantation in humans.

    PubMed

    Chandrasekhar, Jaya; Glover, Chris; Labinaz, Marino; Ruel, Marc

    2014-11-01

    We describe 2 cases in which transcatheter aortic valve implantation was performed with a Portico prosthesis (St Jude Medical, St Paul, MN) through a direct aortic approach. In 1 of the cases, prosthesis retrieval was needed during the procedure and was essential to the successful outcome. This is the first report, to our knowledge, of direct aortic Portico prosthesis implantation, and it highlights the significance of the retrievable nature of this device. PMID:25442452

  11. Enlightenment from a small but rapidly evolving penetrating aortic ulcer.

    PubMed

    Tan, Guangyi; Tang, Wenyi; Chen, Jian

    2016-07-01

    Penetrating aortic ulcer (PAU) is a pathologic type of acute aortic syndrome and usually locates in the descending aorta. The presentation, behavior and natural history of this disease process have not been clear. Here we report a case in which a rapidly evolving PAU in descending aorta needed aggressive percutaneous interventional treatment. The present case with its unique scenario might draw clinicians' attention on a "beyond the guidelines" issue.

  12. Enlightenment from a small but rapidly evolving penetrating aortic ulcer.

    PubMed

    Tan, Guangyi; Tang, Wenyi; Chen, Jian

    2016-07-01

    Penetrating aortic ulcer (PAU) is a pathologic type of acute aortic syndrome and usually locates in the descending aorta. The presentation, behavior and natural history of this disease process have not been clear. Here we report a case in which a rapidly evolving PAU in descending aorta needed aggressive percutaneous interventional treatment. The present case with its unique scenario might draw clinicians' attention on a "beyond the guidelines" issue. PMID:26961076

  13. Autologous adventitial overlay method reinforces anastomoses in aortic surgery.

    PubMed

    Minato, Naoki; Okada, Takayuki; Sumida, Tomohiko; Watanabe, Kenichi; Maruyama, Takahiro; Kusunose, Takashi

    2014-05-01

    In this study, we present an inexpensive and effective method for providing a secure and hemostatic anastomosis using autologous adventitia obtained from a dissected or aneurysmal wall. The resected aortic wall is separated between the adventitia and media, and a soft, 2 × 10-cm adventitial strip is overlaid to cover the anastomotic margin. A graft is sutured to the aortic stump. This autologous adventitial overlay method can inexpensively and strongly reinforce the anastomosis during aortic surgery for dissection or aneurysm and will contribute to anastomotic hemostasis and long-term stability.

  14. Dissecting thoracic aortic aneurysm associated with tuberculous pleural effusion

    PubMed Central

    Im, Kyong Shil; Choi, Min Kyung; Jeon, Yong Kyoung

    2016-01-01

    We present the case of thoracic aortic aneurysm associated with the tuberculous pleural effusion. An 82-year-old woman underwent emergency stent graft under a diagnosis of dissecting thoracic aortic aneurysm. Preoperative computed tomography revealed right pleural effusion supposed to the hemothorax caused by the dissecting aneurysm. But, the effusion was sanguineous color fluid and it was determined to result from pulmonary tuberculosis. The medical team was exposed to the pulmonary tuberculosis; fortunately no one became infected. Physicians should be aware of the possibility of an infected aortic aneurysm and prepare for pathogen transmission. PMID:27499987

  15. 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.

  16. Post-mortem shrinkage of homograft aortic valves

    PubMed Central

    Dexter, F.; Donnelly, R. J.; Deverall, P. B.; Watson, D. A.

    1972-01-01

    Experience has shown that some frame-mounted homograft aortic valves, although competent immediately after mounting, are incompetent when subsequently presented for surgical use. Retraction and shrinkage of the cusps appears to be the cause of this change. Clinical and experimental studies have shown that shrinkage of homograft aortic valves occurs over an approximately five-day period after death of the donor and it is recommended that this period should elapse before mounting homograft aortic valves on to support frames. Images PMID:5039445

  17. Abdominal aortic rupture from an impaling osteophyte following blunt trauma.

    PubMed

    Vernon, Seth A; Murphy, William R C; Murphy, Todd W; Haan, James M

    2014-04-01

    Blunt injury of the abdominal aorta is highly fatal. We present an unusual case of an osteophyte impaling the abdominal aorta treated by endovascular repair. A 77-year-old man sustained a thoracolumbar fracture-dislocation with posterior aortic rupture between his celiac and superior mesenteric artery origins. His aortic injury was treated with a stent graft, excluding the celiac origin. He was dismissed on postoperative day 6. At 6 months, he had returned to most preinjury activities, and at 2-year follow-up, he continues to have good functional outcome. Endovascular repair may be successfully employed in select aortic injuries in hemodynamically stable patients.

  18. Turner's hypoplasia and non-vitality: a case report of sequelae in permanent tooth.

    PubMed

    Geetha Priya, P R; John, John B; Elango, Indumathi

    2010-10-01

    Hypoplasia is the result of disruption in the process of enamel matrix formation, which in turn causes defect in quality and thickness of enamel. Four cases of Turner's hypoplastic teeth with a previous history of trauma/infection in their primary predecessors at the age of 2-3 years have been reported. These hypoplastic teeth had turned non-vital without any carious insult, cavitation or further trauma. This article thereby stresses the importance of early detection of enamel hypoplasia and proper management at the earliest possible stage to enable an efficient prevention from clinically non-evident microbial invasion in the dentinal tubules and concomitant pulp pathosis. PMID:22114432

  19. 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.

  20. Turner's hypoplasia and non-vitality: a case report of sequelae in permanent tooth.

    PubMed

    Geetha Priya, P R; John, John B; Elango, Indumathi

    2010-10-01

    Hypoplasia is the result of disruption in the process of enamel matrix formation, which in turn causes defect in quality and thickness of enamel. Four cases of Turner's hypoplastic teeth with a previous history of trauma/infection in their primary predecessors at the age of 2-3 years have been reported. These hypoplastic teeth had turned non-vital without any carious insult, cavitation or further trauma. This article thereby stresses the importance of early detection of enamel hypoplasia and proper management at the earliest possible stage to enable an efficient prevention from clinically non-evident microbial invasion in the dentinal tubules and concomitant pulp pathosis.

  1. Cauda equina syndrome: an uncommon symptom of aortic diseases

    PubMed Central

    He, Fuliang; Xing, Tong; Yu, Fang; Li, Hongchuan; Fang, Xiutong; Song, Hongxing

    2015-01-01

    Background: In order to help diagnose and deal with the fetal aortic diseases in time, we retrospectively reviewed 8 patients who presented with cauda equina syndrome (CES) but actually suffered from low spinal nerve ischemia due to aortic diseases. Material and Methods: 8 patients were initially diagnosed as CES. 7 patients were confirmed with aortic diseases. 1 patient was confirmed with aortic saddle embolism post emergent laminectomy. Relief of CES symptoms was evaluated during preoperation and follow-up period. Results: 1 patient was diagnosed as aortic dissection and 5 patients as AAA. These 6 patients underwent endovascular aortic repair (EVAR). The CES was relieved in 5-10 d post procedure. The 7th patient was diagnosed with acute abdominal aortic occlusion and then underwent catheter directed thrombolysis with recombinant tissue plasminogen activator (rTPA) for 20 h and CES disappeared. The JOA scores of the 7 patients were recovered from preoperative 15.14±1.21 to 21.00±2.16 within 5-10 d (P<0.01), and evaluated to be 24.12±1.34, 25.88±1.21 and 26.29±1.11 at 3 m-, 6 m- and 12 m-follow-up point, respectively. The 8th patient was initially diagnosed as lumbar spinal stenosis and lumbar disc herniation. The patient underwent emergent vertebral canal decompression and presented with serious CES symptoms. CTA confirmed that the patient had been suffered from aortic saddle embolism (ASE). Conclusion: CES caused by abdominal aortic diseases is a special event with fetal consequences if it is not recognized and treated promptly. Orthopedists and neurosurgeons should pay attentions particularly to this issue to preserve the cauda equina functions to their maximums. PMID:26379869

  2. 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.

  3. [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. PMID:27440026

  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. PMID:26263237

  5. Blunt Traumatic Aortic Injury of Right Aortic Arch in a Patient with an Aberrant Left Subclavian Artery

    PubMed Central

    Yeo, Daryl Li-Tian; Haider, Sajjad; Zhen, Claire Alexandra Chew

    2015-01-01

    Right-sided aortic arch (RAA) is a rare congenital developmental variant present in about 0.1 percent of the population. This anatomical anomaly is commonly associated with congenital heart disease and complications from compression of mediastinal structures. However, it is unknown if patients are at a higher risk of blunt thoracic aortic injury (BTAI). We report a case of a 20-year-old man admitted to the hospital after being hit by an automobile. Computed tomographic scan revealed an RAA with an aberrant left subclavian artery originating from a Kommerell’s diverticulum. A pseudo-aneurysm was also seen along the aortic arch. A diagnosis of blunt traumatic aortic injury was made. The patient was successfully treated with a 26mm Vascutek hybrid stentgraft using the frozen elephant trunk technique. A literature review of the pathophysiology of BTAI was performed to investigate if patients with right-sided aortic arch are at a higher risk of suffering from BTAI. Results from the review suggest that although theoretically there may be a higher risk of BTAI in RAA patients, the rarity of this condition has prevented large studies to be conducted. Previously reported cases of BTAI in RAA have highlighted the possibility that the aortic isthmus may be anatomically weak and therefore prone to injury. We have explored this possibility by reviewing current literature of the embryological origins of the aortic arch and descending aorta. PMID:25745378

  6. Blunt traumatic aortic injury of right aortic arch in a patient with an aberrant left subclavian artery.

    PubMed

    Yeo, Daryl Li-Tian; Haider, Sajjad; Zhen, Claire Alexandra Chew

    2015-03-01

    Right-sided aortic arch (RAA) is a rare congenital developmental variant present in about 0.1 percent of the population. This anatomical anomaly is commonly associated with congenital heart disease and complications from compression of mediastinal structures. However, it is unknown if patients are at a higher risk of blunt thoracic aortic injury (BTAI). We report a case of a 20-year-old man admitted to the hospital after being hit by an automobile. Computed tomographic scan revealed an RAA with an aberrant left subclavian artery originating from a Kommerell's diverticulum. A pseudo-aneurysm was also seen along the aortic arch. A diagnosis of blunt traumatic aortic injury was made. The patient was successfully treated with a 26mm Vascutek hybrid stentgraft using the frozen elephant trunk technique. A literature review of the pathophysiology of BTAI was performed to investigate if patients with right-sided aortic arch are at a higher risk of suffering from BTAI. Results from the review suggest that although theoretically there may be a higher risk of BTAI in RAA patients, the rarity of this condition has prevented large studies to be conducted. Previously reported cases of BTAI in RAA have highlighted the possibility that the aortic isthmus may be anatomically weak and therefore prone to injury. We have explored this possibility by reviewing current literature of the embryological origins of the aortic arch and descending aorta.

  7. Almanac 2014: aortic valve disease.

    PubMed

    Otto, Catherine M

    2015-06-01

    The past few years have seen major advances in the diagnosis of aortic valve disease and in our understanding of the pathophysiology of disease. In addition, transcatheter aortic valve implantation has transformed our clinical management options. This article summarises new aortic valve disease research published in Heart in 2013 and 2014, within the context of other major studies published in general medical journals, including a discussion of the potential impact of these new research findings on the clinical approach to management of adults with aortic valve disease.

  8. Neuroprotection during aortic surgery.

    PubMed

    Lindsay, Helen; Srinivas, Coimbatore; Djaiani, George

    2016-09-01

    Neurological injury is a major limitation of aortic surgery, whether it involves spinal cord injury following intervention to the thoracoabdominal aorta, or stroke following surgery on the arch and ascending aorta. Despite an extensive body of literature and various proposals, a completely effective strategy to prevent or treat neurological injury remains elusive. In this article, we summarise the evidence for established and emerging strategies, and review current concepts in pathophysiology and risk assessment as they relate to neurological injury. PMID:27650340

  9. 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

  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. Minimally invasive aortic valve replacement – pros and cons of keyhole aortic surgery

    PubMed Central

    Szałański, Przemysław; Zembala, Michał; Filipiak, Krzysztof; Karolak, Wojciech; Wojarski, Jacek; Garbacz, Marcin; Kaczmarczyk, Aleksandra; Kwiecień, Anna; Zembala, Marian

    2015-01-01

    Over the last twenty years, minimally invasive aortic valve replacement (MIAVR) has evolved into a safe, well-tolerated and efficient surgical treatment option for aortic valve disease. It has been shown to reduce postoperative morbidity, providing faster recovery and rehabilitation, shorter hospital stay and better cosmetic results compared with conventional surgery. A variety of minimally invasive accesses have been developed and utilized to date. This concise review demonstrates and discusses surgical techniques used in contemporary approaches to MIAVR and presents the most important results of MIAVR procedures. PMID:26336491

  12. Intimal Flap Vegetation Following Aortic Root Re-dissection

    PubMed Central

    Osada, Hiroaki; Nakajima, Hiroyuki; Meshii, Katsuaki; Ohnaka, Motoaki

    2016-01-01

    A 75-year-old man who had undergone ascending aorta replacement for acute Type A aortic dissection presented with a recurring high fever. Transesophageal echocardiography revealed that a vegetation had formed on the re-dissected intimal flap of the noncoronary sinus of Valsalva. This didactic case suggests that antibiotic prophylactic measures be considered for aortic dissection flaps as for irregular valves susceptible to infective endocarditis.

  13. 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.

  14. 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.

  15. 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.

  16. 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. PMID:27382495

  17. 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

  18. 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...

  19. Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.

    PubMed

    Kaiserman, K B; Nakamoto, J M; Geffner, M E; McCabe, E R

    1998-08-01

    An infant and his uncle, both with adrenal hypoplasia congenita, shared the same DAX1 mutation. The adolescent uncle had hypogonadotropic hypogonadism, but the infant had a normal minipuberty of infancy. These observations suggest differences in the physiologic mechanisms regulating the hypothalamic-pituitary-gonadal axis in infancy and adolescence.

  20. 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...

  1. 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…

  2. Concurrent occipital hypoplasia, occipital dysplasia, syringohydromyelia, and hydrocephalus in a Yorkshire terrier.

    PubMed

    Cagle, Laura

    2010-08-01

    Magnetic resonance imaging of a 7.5-year-old neutered male Yorkshire terrier with mild generalized ataxia and intermittent neck scratching led to a diagnosis of caudal occipital malformation and syringohydromyelia. Surgical exploration led to a diagnosis of occipital dysplasia with concurrent occipital hypoplasia. Following a dorsal laminectomy of the first cervical vertebra there was no progression or improvement a month later.

  3. Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

    PubMed Central

    Yorifuji, T; Matsumura, M; Okuno, T; Shimizu, K; Sonomura, T; Muroi, J; Kuno, C; Takahashi, Y; Okuno, T

    1994-01-01

    We report on a Japanese family with hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease. The disease was apparently inherited as an autosomal dominant trait. The patients in this family had no major anomalies other than those of the heart and pancreas. To our knowledge, this combination has not previously been reported. Images PMID:8071961

  4. 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

  5. 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.

  6. 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.

  7. Homograft Aortic Root Replacement with Saphenous Vein Graft Hemi-Cabrol for Prosthetic Aortic Valve Endocarditis

    PubMed Central

    Dimarakis, Ioannis; Wooldridge, Wilfred J.; Kadir, Isaac

    2015-01-01

    A 44-year-old female presented with prosthetic valve endocarditis with periannular abscess involving the left coronary ostium. We describe cryopreserved aortic homograft root replacement with hemi-Cabrol reimplantation of the left coronary ostium using the long saphenous vein. PMID:26798762

  8. Comparison of gene expression profiles in aortic dissection and normal human aortic tissues

    PubMed Central

    Zhang, Liang; Yu, Cuntao; Chang, Qian; Luo, Xinjin; Qiu, Juntao; Liu, Shen

    2016-01-01

    The aim of the present study was to compare the gene expression profiles in aortic dissection (AD) and healthy human aortic tissue samples by DNA microarray analysis in order to screen the differential genes. In total, five AD and four healthy aortic specimens were selected; the total RNA was extracted and reverse transcribed into cDNA and in vitro transcribed into aRNA, followed by microarray hybridization for analysis. Thereafter, the transcription levels of six differential genes, myosin light chain kinase (MYLK), polycystin 1, transient receptor potential channel interacting (PKD-1), myosin heavy chain 11 (MYH11), superoxide dismutase 3, extracellular (SOD3), filamin A (FLNA), and transgelin (TAGLN), screened from the expression profiles were quantitatively verified. Compared with the healthy aortic specimens, a total of 1,661 genes in the AD group demonstrated more than 2-fold differential expression, of which 997 genes were upregulated and 664 genes were downregulated. Thereafter, six AD-associated genes that showed downregulation in the microarray assay were selected for quantitatively verifying the gene transcription level using reverse transcription-quantitative polymerase chain reaction (RT-qPCR), which confirmed their downregulation compared with the healthy aortic tissue genes; of the six genes, the expression levels of MYLK, PKD-1, MYH11, SOD3 and TAGLN were significantly downregulated (P<0.05), while the expression of FLNA was not significantly downregulated (P>0.05). Thus, whole genome microarray may be used to screen differentially expressed genes between AD and healthy aortic tissues. When used in combination with RT-qPCR validation, this method may provide novel strategies for investigating AD. PMID:27699008

  9. Comparison of gene expression profiles in aortic dissection and normal human aortic tissues

    PubMed Central

    Zhang, Liang; Yu, Cuntao; Chang, Qian; Luo, Xinjin; Qiu, Juntao; Liu, Shen

    2016-01-01

    The aim of the present study was to compare the gene expression profiles in aortic dissection (AD) and healthy human aortic tissue samples by DNA microarray analysis in order to screen the differential genes. In total, five AD and four healthy aortic specimens were selected; the total RNA was extracted and reverse transcribed into cDNA and in vitro transcribed into aRNA, followed by microarray hybridization for analysis. Thereafter, the transcription levels of six differential genes, myosin light chain kinase (MYLK), polycystin 1, transient receptor potential channel interacting (PKD-1), myosin heavy chain 11 (MYH11), superoxide dismutase 3, extracellular (SOD3), filamin A (FLNA), and transgelin (TAGLN), screened from the expression profiles were quantitatively verified. Compared with the healthy aortic specimens, a total of 1,661 genes in the AD group demonstrated more than 2-fold differential expression, of which 997 genes were upregulated and 664 genes were downregulated. Thereafter, six AD-associated genes that showed downregulation in the microarray assay were selected for quantitatively verifying the gene transcription level using reverse transcription-quantitative polymerase chain reaction (RT-qPCR), which confirmed their downregulation compared with the healthy aortic tissue genes; of the six genes, the expression levels of MYLK, PKD-1, MYH11, SOD3 and TAGLN were significantly downregulated (P<0.05), while the expression of FLNA was not significantly downregulated (P>0.05). Thus, whole genome microarray may be used to screen differentially expressed genes between AD and healthy aortic tissues. When used in combination with RT-qPCR validation, this method may provide novel strategies for investigating AD.

  10. Downregulation of the Yes-Associated Protein Is Associated with Extracellular Matrix Disorders in Ascending Aortic Aneurysms.

    PubMed

    Li, Haiyang; Jiang, Wenjian; Ren, Weihong; Guo, Dong; Guo, Jialong; Wang, Xiaolong; Liu, Yuyong; Lan, Feng; Du, Jie; Zhang, Hongjia

    2016-01-01

    Previous studies indicate that extracellular matrix (ECM) disorders lead to the apoptosis of Vascular Smooth Muscle Cells (VSMCs), which impairs the aortic wall by reducing the generation of elastic fibers, and ultimately result in ascending aortic aneurysm. The critical role of the Yes-associated protein (YAP) has been elucidated in cardiac/SMC proliferation during cardiovascular development. However, the association of YAP expression and extracellular matrix disorders in ascending aortic aneurysms is not clear. Here, we present for the first time that the downregulation of YAP in VSMCs is associated with ECM disorders of the media in ascending aortic aneurysms. We found that aortic ECM deteriorated with increased apoptotic VSMCs. Moreover, expression of YAP was dramatically reduced in the aortic walls of patients with ascending aortic aneurysms, while the normal aortic samples exhibited abundant YAP in the VSMCs. These results suggest that downregulation of YAP leads to apoptosis of VSMCs, which are essential for the homeostasis of the aortic wall. The resultant ECM disorders affect aortic structure and function and contribute to the development of ascending aortic aneurysms. In summary, through assessment of clinical samples, we revealed the association between downregulation of YAP in VSMCs and the development of ascending aortic aneurysms, providing new insight into the pathogenesis of this disease. PMID:26904131

  11. Current surgical results of acute type A aortic dissection in Japan.

    PubMed

    Okita, Yutaka

    2016-07-01

    Current surgical results of acute type A aortic dissection in Japan are presented. According to the annual survey by the Japanese Association of Thoracic Surgery, 4,444 patients with acute type A aortic dissection underwent surgical procedures and the overall hospital mortality was 9.1% in 2013. The prevalence of aortic root replacement with a valve sparing technique, total arch replacement (TAR), and frozen stent graft are presented and strategies for thrombosed dissection or organ malperfusion syndrome secondary to acute aortic dissection are discussed. PMID:27563550

  12. Current surgical results of acute type A aortic dissection in Japan

    PubMed Central

    2016-01-01

    Current surgical results of acute type A aortic dissection in Japan are presented. According to the annual survey by the Japanese Association of Thoracic Surgery, 4,444 patients with acute type A aortic dissection underwent surgical procedures and the overall hospital mortality was 9.1% in 2013. The prevalence of aortic root replacement with a valve sparing technique, total arch replacement (TAR), and frozen stent graft are presented and strategies for thrombosed dissection or organ malperfusion syndrome secondary to acute aortic dissection are discussed. PMID:27563550

  13. Ischemic stroke secondary to aortic dissection following rifle butt recoil chest injury: a case report.

    PubMed

    Rao, Mamatha; Panduranga, Prashanth; Al-Mukhaini, Mohammed; Al-Jufaili, Mahmood; Valiath, John

    2011-11-01

    Ischemic stroke secondary to aortic dissection is not uncommon. We present a patient with left hemiplegia secondary to Stanford type A aortic dissection extending to the supra-aortic vessels, which was precipitated by rifle butt recoil chest injury. The diagnosis of aortic dissection was delayed due to various factors. Finally, the patient underwent successful Bentall procedure with complete resolution of symptoms. This case emphasizes the need for caution in the use of firearms for recreation and to take precautions in preventing such incidents. In addition, this case illustrates the need for prompt cardiovascular physical examination in patients presenting with stroke.

  14. Ischemic Stroke Secondary to Aortic Dissection Following Rifle Butt Recoil Chest Injury: A Case Report

    PubMed Central

    Rao, Mamatha; Panduranga, Prashanth; Al-Mukhaini, Mohammed; Al-Jufaili, Mahmood; Valiath, John

    2011-01-01

    Ischemic stroke secondary to aortic dissection is not uncommon. We present a patient with left hemiplegia secondary to Stanford type A aortic dissection extending to the supra-aortic vessels, which was precipitated by rifle butt recoil chest injury. The diagnosis of aortic dissection was delayed due to various factors. Finally, the patient underwent successful Bentall procedure with complete resolution of symptoms. This case emphasizes the need for caution in the use of firearms for recreation and to take precautions in preventing such incidents. In addition, this case illustrates the need for prompt cardiovascular physical examination in patients presenting with stroke. PMID:22253955

  15. Balloon aortic valvuloplasty as a bridge to aortic valve surgery for severe aortic stenosis.

    PubMed

    Nwaejike, Nnamdi; Mills, Keith; Stables, Rod; Field, Mark

    2015-03-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was, in patients with severe aortic stenosis, can balloon valvuloplasty be used as a bridge to aortic valve replacement? Altogether 463 papers were found using the reported search, of which 11 papers represented the best evidence to answer the clinical question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated. We conclude that balloon aortic valvuloplasty is recommended as a bridge to aortic valve replacement (AVR) or transcatheter aortic valve implantation (TAVI) in patients with severe symptomatic aortic stenosis. Institutional practices, local and logistic factors can affect patient selection and management approaches to severe aortic stenosis, but having the facility to offer balloon aortic valvuloplasty (especially in the TAVI era) provides another management option for patients who would otherwise have been considered unacceptably high risk for aortic valve surgery. The increased incidence of balloon aortic valvuloplasty mirrors the increase in the use of TAVI with a sharp increase in activity from 2006. Success rates for bridging from balloon aortic valvuloplasty to definite surgical intervention are in the range 26.3-74%, with AVR or TAVI occurring within 8 weeks to 7 months. Complications from balloon aortic valvuloplasty such as aortic regurgitation (AR) can be managed successfully. Up to 40% of patients selected by balloon aortic valvuloplasty to have TAVI or AVR do not have these procedures within 2 years. While most of these patients are excluded for objective clinical reasons such as terminal disease/malignancy or other persistent contraindication, some patients refuse definitive treatment and others die while on the waiting list. Outcomes in patients bridged to AVR/TAVI are better than in patients treated with balloon aortic valvuloplasty

  16. New Insights Into Aortic Diseases

    PubMed Central

    Kuivaniemi, Helena; Sakalihasan, Natzi; Lederle, Frank A.; Jones, Gregory T.; Defraigne, Jean-Olivier; Labropoulos, Nicos; Legrand, Victor; Michel, Jean-Baptiste; Nienaber, Christoph; Radermecker, Marc A.; Elefteriades, John A.

    2013-01-01

    The current state of research and treatment on aortic diseases was discussed in the “3rd International Meeting on Aortic Diseases” (IMAD3) held on October 4–6, 2012, in Liège, Belgium. The 3-day meeting covered a wide range of topics related to thoracic aortic aneurysms and dissections, abdominal aortic aneurysms, and valvular diseases. It brought together clinicians and basic scientists and provided an excellent opportunity to discuss future collaborative research projects for genetic, genomics, and biomarker studies, as well as clinical trials. Although great progress has been made in the past few years, there are still a large number of unsolved questions about aortic diseases. Obtaining answers to the key questions will require innovative, interdisciplinary approaches that integrate information from epidemiological, genetic, molecular biology, and bioengineering studies on humans and animal models. It is more evident than ever that multicenter collaborations are needed to accomplish these goals. PMID:26798669

  17. Chronic atrial fibrillation in presence of aortic stenosis in a patient with polysplenia syndrome.

    PubMed

    Bronte, E; Trovato, Rl; Di Miceli, R; Sucato, V; Candela, P; Brancatelli, G; Novo, S

    2013-01-01

    We report a rare case of "situs viscerum ambiguous" with polysplenia syndrome, in a 69 year old female patient with aortic stenosis and chronic atrial fibrillation. The presenting symptom was dyspnoea on moderate exertion and an ECG showed supra ventricular arrhythmia. Patients trans-thoracic echocardiogram revealed a dilated left atrium, reduced ejection fraction, mild tricuspid regurgitation, moderate-severe pulmonary hypertension and severe aortic stenosis. The patient was successfully treated with a replacement of her aortic valve and ascending aorta.

  18. Prevention of pulmonary hypoplasia and pulmonary vascular remodeling by antenatal simvastatin treatment in nitrofen-induced congenital diaphragmatic hernia.

    PubMed

    Makanga, Martine; Maruyama, Hidekazu; Dewachter, Celine; Da Costa, Agnès Mendes; Hupkens, Emeline; de Medina, Geoffrey; Naeije, Robert; Dewachter, Laurence

    2015-04-01

    Congenital diaphragmatic hernia (CDH) has a high mortality rate mainly due to lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Simvastatin has been shown to prevent the development of pulmonary hypertension (PH) in experimental models of PH. We, therefore, hypothesized that antenatal simvastatin would attenuate PPHN in nitrofen-induced CDH in rats. The efficacy of antenatal simvastatin was compared with antenatal sildenafil, which has already been shown to improve pathological features of PPHN in nitrofen-induced CDH. On embryonic day (E) 9.5, nitrofen or vehicle was administered to pregnant Sprague-Dawley rats. On E11, nitrofen-treated rats were randomly assigned to antenatal simvastatin (20 mg·kg(-1)·day(-1) orally), antenatal sildenafil (100 mg·kg(-1)·day(-1) orally), or placebo administration from E11 to E21. On E21, fetuses were delivered by cesarean section, killed, and checked for left-sided CDH. Lung tissue was then harvested for further pathobiological evaluation. In nitrofen-induced CDH, simvastatin failed to reduce the incidence of nitrofen-induced CDH in the offspring and to increase the body weight, but improved the lung-to-body weight ratio and lung parenchyma structure. Antenatal simvastatin restored the pulmonary vessel density and external diameter, and reduced the pulmonary arteriolar remodeling compared with nitrofen-induced CDH. This was associated with decreased lung expression of endothelin precursor, endothelin type A and B receptors, endothelial and inducible nitric oxide synthase, together with restored lung activation of apoptotic processes mainly in the epithelium. Antenatal simvastatin presented similar effects as antenatal therapy with sildenafil on nitrofen-induced CDH. Antenatal simvastatin improves pathological features of lung hypoplasia and PPHN in experimental nitrofen-induced CDH. PMID:25617377

  19. 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.

  20. Prevention of pulmonary hypoplasia and pulmonary vascular remodeling by antenatal simvastatin treatment in nitrofen-induced congenital diaphragmatic hernia.

    PubMed

    Makanga, Martine; Maruyama, Hidekazu; Dewachter, Celine; Da Costa, Agnès Mendes; Hupkens, Emeline; de Medina, Geoffrey; Naeije, Robert; Dewachter, Laurence

    2015-04-01

    Congenital diaphragmatic hernia (CDH) has a high mortality rate mainly due to lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Simvastatin has been shown to prevent the development of pulmonary hypertension (PH) in experimental models of PH. We, therefore, hypothesized that antenatal simvastatin would attenuate PPHN in nitrofen-induced CDH in rats. The efficacy of antenatal simvastatin was compared with antenatal sildenafil, which has already been shown to improve pathological features of PPHN in nitrofen-induced CDH. On embryonic day (E) 9.5, nitrofen or vehicle was administered to pregnant Sprague-Dawley rats. On E11, nitrofen-treated rats were randomly assigned to antenatal simvastatin (20 mg·kg(-1)·day(-1) orally), antenatal sildenafil (100 mg·kg(-1)·day(-1) orally), or placebo administration from E11 to E21. On E21, fetuses were delivered by cesarean section, killed, and checked for left-sided CDH. Lung tissue was then harvested for further pathobiological evaluation. In nitrofen-induced CDH, simvastatin failed to reduce the incidence of nitrofen-induced CDH in the offspring and to increase the body weight, but improved the lung-to-body weight ratio and lung parenchyma structure. Antenatal simvastatin restored the pulmonary vessel density and external diameter, and reduced the pulmonary arteriolar remodeling compared with nitrofen-induced CDH. This was associated with decreased lung expression of endothelin precursor, endothelin type A and B receptors, endothelial and inducible nitric oxide synthase, together with restored lung activation of apoptotic processes mainly in the epithelium. Antenatal simvastatin presented similar effects as antenatal therapy with sildenafil on nitrofen-induced CDH. Antenatal simvastatin improves pathological features of lung hypoplasia and PPHN in experimental nitrofen-induced CDH.

  1. 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

  2. Aortic Baroreceptors Display Higher Mechanosensitivity than Carotid Baroreceptors.

    PubMed

    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 Ca(2+) 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

  3. 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.

  4. 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. PMID:27001926

  5. Unlikely culprit: congenital middle aortic syndrome diagnosed in the sixth decade of life.

    PubMed

    Ali, Muhammad Sajawal; Tchernodrinski, Stefan; Mohananey, Divyanshu; Ali, Ahya Sajawal

    2016-01-01

    A 58-year-old woman was admitted with acute heart failure. She had a long history of resistant hypertension, with an unremarkable work up for secondary causes in the past. Her brachial blood pressure was 210/70 mm Hg, with ankle blood pressure of 100/70 mm Hg. CT angiogram revealed marked narrowing of the descending thoracic aorta between the left subclavian artery and the diaphragm, consistent with middle aortic syndrome (MAS). She was initially managed with diuretics and antihypertensives. Subsequently thoracotomy revealed a severely hypoplastic segment of the descending aorta. The diseased segment was resected and aortic reconstruction performed. Histopathology showed fragmentation of the medial elastic fibres and fibrosis of the medial and intimal layers. These findings along with gross aortic hypoplasia and absence of features of Takayasu's arteritis, suggest that our patient had congenital MAS. The patient has done well since her surgery. We believe this is the first case of congenital MAS reported in the sixth decade of life. PMID:27530881

  6. 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.

  7. Cardiovocal Syndrome Secondary to an Aortic Aneurysm.

    PubMed

    Wang, Hsing-Won; Chen, Mei-Chien; Chao, Pin-Zhir; Lee, Fei-Peng

    2016-01-01

    We reported that a 68-year-old man presented to the ENT outpatient department complaining of hoarseness for more than 10 months. Clinical exam identified left vocal palsy in the paramedian position and atrophic vocal folds were noted. Chest radiography revealed a large bulging contour overlying aorta and left hilar shadow. Aortic aneurysm was proved by CT scanning. Contrast-enhanced chest computed tomography for further evaluation showed a broad-based aortic aneurysm at proximal descending aorta, projecting anterolaterally. Cardiovocal syndrome was proved. The syndrome is a rare clinical presentation. While a patient with unilateral vocal palsy is encountered, one might keep in mind the possibility of cardiovocal syndrome especially in an adult who had a cardiovascular disease. PMID:27088024

  8. Cardiovocal Syndrome Secondary to an Aortic Aneurysm

    PubMed Central

    Wang, Hsing-Won; Chen, Mei-Chien; Chao, Pin-Zhir; Lee, Fei-Peng

    2016-01-01

    We reported that a 68-year-old man presented to the ENT outpatient department complaining of hoarseness for more than 10 months. Clinical exam identified left vocal palsy in the paramedian position and atrophic vocal folds were noted. Chest radiography revealed a large bulging contour overlying aorta and left hilar shadow. Aortic aneurysm was proved by CT scanning. Contrast-enhanced chest computed tomography for further evaluation showed a broad-based aortic aneurysm at proximal descending aorta, projecting anterolaterally. Cardiovocal syndrome was proved. The syndrome is a rare clinical presentation. While a patient with unilateral vocal palsy is encountered, one might keep in mind the possibility of cardiovocal syndrome especially in an adult who had a cardiovascular disease. PMID:27088024

  9. Open thoracic aortic repair for dysphagia in patients with Kommerell's diverticulum and right-sided aortic arch with aberrant left subclavian artery.

    PubMed

    Reece, T Brett; Wallen, Tyler J; Jagasia, Dinesh H; Bavaria, Joseph E; Szeto, Wilson Y

    2010-01-01

    Kommerell's diverticulum of an aberrant left subclavian artery associated with a right-sided aortic arch is a rare congenital aortic anomaly. This communication reports two cases of this congenital anomaly leading to severe dysphagia. Both cases were successfully repaired with a staged open approach rather than an endovascular approach, which would not have addressed the presenting symptom of dysphagia.

  10. Acute aortic occlusion in a child secondary to lap-belt injury treated with thromboendarterectomy and primary repair.

    PubMed

    West, Charles A; Johnson, Lester W; Doucet, Linda; Shah, Mitali; Khan, Imtiaz; Heldmann, Maureen

    2011-08-01

    Abdominal aortic injury as a result of blunt trauma is a rare event and has been described in few children. A 6-year-old girl presented with acute bilateral lower extremity ischemia, and a triad of acute aortic occlusion, intra-abdominal visceral injury, and a lumbar chance fracture after sustaining a seat belt injury from a motor vehicle collision. An emergency aortic thromboendarterectomy and primary repair were performed. This represents one of the few reports of acute traumatic aortic thrombosis in a child and highlights the surgical treatment of acute abdominal aortic injury in a pediatric patient.

  11. Intraoperative aortic dissection

    PubMed Central

    Singh, Ajmer; Mehta, Yatin

    2015-01-01

    Intraoperative aortic dissection is a rare but fatal complication of open heart surgery. By recognizing the population at risk and by using a gentle operative technique in such patients, the surgeon can usually avoid iatrogenic injury to the aorta. Intraoperative transesophageal echocardiography and epiaortic scanning are invaluable for prompt diagnosis and determination of the extent of the injury. Prevention lies in the strict control of blood pressure during cannulation/decannulation, construction of proximal anastomosis, or in avoiding manipulation of the aorta in high-risk patients. Immediate repair using interposition graft or Dacron patch graft is warranted to reduce the high mortality associated with this complication. PMID:26440240

  12. Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

    PubMed

    Sabry, M A; Obenbergerova, D; Al-Sawan, R; Saleh, Q A; Farah, S; Al-Awadi, S A; Farag, T I

    1996-02-01

    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. PMID:8929957

  13. Saccular Aneurysms of the Transverse Aortic Arch: Treatment Options Available in the Endovascular EraBased on a Presentation at the 2013 VEITH Symposium, November 19-23, 2013 (New York, NY, USA).

    PubMed

    Preventza, Ourania; Coselli, Joseph S

    2015-04-01

    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.

  14. Crater-Like Ulceration of Aortic Arch.

    PubMed

    Simon, Caterina; Calabrese, Alice; Canu, Gianluca; Merlo, Maurizio; Galletti, Lorenzo

    2014-12-01

    We report the case of a 78-year-old female who presented to our hospital with signs of hemorrhagic shock and breathlessness. A transthoracic echocardiography demonstrated pericardial effusion. Computed tomography of the chest showed a penetrating atherosclerotic ulcer of the aortic arch with an intramural hematoma of the ascending and descending aorta. Endovascular repair with stent-grafting was urgently performed and a pericardial window placement was done to reduce mediastinal bleeding. PMID:26798748

  15. Crater-Like Ulceration of Aortic Arch.

    PubMed

    Simon, Caterina; Calabrese, Alice; Canu, Gianluca; Merlo, Maurizio; Galletti, Lorenzo

    2014-12-01

    We report the case of a 78-year-old female who presented to our hospital with signs of hemorrhagic shock and breathlessness. A transthoracic echocardiography demonstrated pericardial effusion. Computed tomography of the chest showed a penetrating atherosclerotic ulcer of the aortic arch with an intramural hematoma of the ascending and descending aorta. Endovascular repair with stent-grafting was urgently performed and a pericardial window placement was done to reduce mediastinal bleeding.

  16. [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.

  17. [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. PMID:25304052

  18. 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

  19. Abdominal aortic grafting for spontaneous infrarenal abdominal aortic dissection.

    PubMed

    Iwasaki, Hiroto; Shibuya, Takashi; Shintani, Takashi; Uenaka, Hisazumi; Suehiro, Shigefumi; Satoh, Hisashi

    2010-02-01

    This case report concerns a 62-year-old woman with spontaneous infrarenal abdominal aortic dissection, which developed into claudication and rest pain in the lower extremity. Multi-row detector computed tomography showed the entry site of the abdominal aortic dissection at the second lumbar artery, while the reentry site was found intraoperatively at the median sacral artery, indicating that the false lumen had progressed and compressed the true lumen. A direct approach involving grafting appears to be an effective procedure for resolving mesenteric and lower extremity hypoperfusion due to aortic dissection with a dilated false channel, even during the acute period. PMID:19879731

  20. Transcatheter aortic valve implantation in bicuspid aortic valve stenosis.

    PubMed

    Perlman, Gidon Y; Blanke, Philipp; Webb, John G

    2016-09-18

    Bicuspid aortic stenosis (AS) is not rare in patients treated with transcatheter aortic valve implantation (TAVI). Bicuspid valves have unique anatomy which could affect the results of TAVI; however, multiple recent reports have shown that TAVI is safe and effective in this population. Paravalvular aortic regurgitation was initially found to be more frequent in bicuspid patients, but newer-generation devices have shown superior results in this respect. Higher rates of pacemaker implantation after TAVI in bicuspid AS do require further investigation. Current data suggest that bicuspid valves should not be a contraindication for TAVI, but future specific trials are needed to support this assertion. PMID:27640030

  1. Acute Type A Aortic Dissection Missed as Acute Coronary Syndrome

    PubMed Central

    Ansari-Ramandi, Mohammad Mostafa; Firoozi, Ata

    2016-01-01

    Although the aortic dissection is not common, its outcome is frequently fatal, and many patients with aortic dissection die before referral to the hospital or any diagnostic testing. The symptoms of aortic dissection can be similar to myocardial ischemia. A 66-year-old male was referred to our hospital with suspicion of aortic dissection after echocardiography done for evaluating his high blood pressure. He had symptoms of acute coronary syndrome two years before and had done coronary angiography. On presentation to our hospital he had a high blood pressure. On reviewing his past medical history and examining, in the film of coronary angiography, the dissection flap in ascending aorta was identified. Although type A aortic dissection is a catastrophic condition with high mortality and requires prompt surgical treatment but in some cases it may be misdiagnosed as acute coronary syndrome. Sometimes against its high mortality when left untreated, patients survive and are diagnosed later in life incidentally. So it is of great importance to have great clinical suspicion for aortic dissection in patients referring to the hospital with chest pain and the predisposing factors. PMID:27437290

  2. 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.

  3. Unusual complication after aortic valve replacement with the Freedom Solo stentless bioprosthesis.

    PubMed

    Celiento, Michele; Scioti, Giovanni; Pratali, Stefano; Guarracino, Fabio; Bortolotti, Uberto

    2011-09-01

    The case is presented of an unusual complication after aortic valve replacement with a Freedom Solo bioprosthesis. Excision of the aortic valve created a discontinuity of the aortic annulus that was missed intraoperatively and left uncorrected after supra-annular placement of the bioprosthesis; this created a pseudoaneurysm with direct communication to the pericardial cavity. When implanting the Freedom Solo bioprosthesis, care must be taken to exclude the presence of any aortic annular discontinuity. Implantation of the Freedom Solo bioprosthesis is not precluded by this possible complication, provided that any annular disruption is promptly recognized and adequately closed before placement of the supra-annular sutures.

  4. [Pannus Formation Two Years after Bioprosthetic Aortic Valve Implantation;Report of a Case].

    PubMed

    Ono, Kimiyo; Kuroda, Hiroaki

    2015-08-01

    We report a case of early deterioration of the bioprosthetic aortic valve 23 months postoperatively. A 77-year-old man who had undergone aortic valve replacement with a 23-mm Epic valve( St. Jude Medical [SJM])presented to us after a syncopal episode. Echocardiography revealed severe aortic stenosis, and redo aortic valve replacement with a 21-mm SJM mechanical valve was performed. All 3 cusps of the tissue valve were thickened by fibrous pannus overgrowth. Neither calcification nor invasion of inflammatory cells was observed. The cause of pannus formation at such an early stage after implantation remains unknown. PMID:26329714

  5. 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.

  6. 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

  7. Minimally invasive aortic valve surgery.

    PubMed

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

    2016-09-01

    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

  8. Ischemic stroke with left hemiparesis or shock should be evaluated by computed tomography for aortic dissection.

    PubMed

    Tanoue, Shunsuke; Yanagawa, Youichi

    2012-06-01

    An 82-year-old woman with consciousness disturbance, left hemeparesis, and dysarthria was discovered at home by her family and was transported to a hospital. On arrival, she remained in a sleepy and disorientated and shock state. She complained of nausea but no chest or back pain. She obtained stable circulation after infusion. Her chest roentgen results showed widening of the mediastinum and the existence of a separation of the intimal calcification from the outer aortic soft tissue border, thus suggesting a Stanford A–type aortic dissection. Her head computed tomography depicted no signs of cerebral infarction. Because she did not complain of any pain, the possibility of acute phase aortic dissection was rejected. A permissive hypertensive therapy was initiated. Next day, she suddenly died. We diagnosed that she had died of a Stanford A–type aortic dissection based on the following facts: (1) patients presenting with stroke due to a Stanford A–type aortic dissection tend to have left hemiparesis because of malcirculation of the innominate artery and (2) a patient presenting with stroke by aortic dissection may have hypotension, which is unusual in standard stoke cases. Ischemic stroke induced by aortic dissection is not common among the patients with aortic dissection. However, given the high morbidity and mortality after misdiagnosis of aortic dissection, patients with ischemic stroke with left hemiparesis or shock should be evaluated by enhanced truncal computed tomography. PMID:22100071

  9. 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.

  10. 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.

  11. Retroperitoneal lymphocele after abdominal aortic surgery.

    PubMed

    Garrett, H E; Richardson, J W; Howard, H S; Garrett, H E

    1989-09-01

    Lymphoceles may occur as a result of lymphatic injury during abdominal aortic surgery. These lymphatic collections may occur as a retroperitoneal mass or as groin lymphoceles. Four cases are presented in which persistent retroperitoneal lymphoceles were discovered 2 to 8 years after surgery. Reexploration of the groin and repeated aspirations of lymphatic fluid failed to control the drainage. Reexploration of the retroperitoneum documented lymphatic injury, which was controlled by ligation of the lymphatics with suture. A review of the literature discloses five similar reported cases of retroperitoneal lymphocele and 12 cases of chylous ascites after abdominal aortic surgery. Clearly, avoiding lymphatic injury or immediate repair of any lymphatic injuries will prevent this problem. Once a persistent lymphocele has developed, aspiration will establish the diagnosis. Our experience would suggest that reexploration of the retroperitoneum is required to control the drainage and to prevent possible graft infection.

  12. Assessment of Perfusion toward the Aortic Valve Using the New Dispersion Aortic Cannula during Coronary Artery Bypass Surgery

    PubMed Central

    Grooters, Ronald K.; Thieman, Kent C.; Schneider, Robert F.; Nelson, Mark G.

    2000-01-01

    When there is an echocardiographic diagnosis of severe mobile atherosclerotic plaque in the aortic arch or descending aorta, perfusion toward the aortic arch during cardiopulmonary bypass may create a high risk of embolic neurologic injury. Other perfusion methods, such as cannulation of the femoral or axillary arteries, are not always possible, due to atherosclerosis. The ascending aorta may be an alternative site for perfusion, since it is less frequently diseased. We assessed a new technique of perfusion toward the aortic valve using a new cannula designed for this purpose (Dispersion aortic cannula). Our study included 100 consecutive patients, 72 men and 28 women, with an average age of 68 ± 1.0 years (range, 39–89 years). There were no complications related to insertion of the cannula or perfusion. The ascending aorta could be cross-clamped and side-clamped without perfusion problems. Three deaths occurred; none was related to the cannulation technique. No intra-operative stroke occurred. Two patients suffered neurologic events, one on day 1 and the other on day 6; both had been fully alert after surgery. Perfusion toward the aortic valve appears to be safe and hemodynamically effective. This cannulation technique appears to be an acceptable alternative to present methods. Comparative studies will be needed to determine whether this alternative technique is effective in patients with severe aortic arch disease. PMID:11198309

  13. 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

  14. Syncope as Initial Presentation of Kommerell Diverticulum

    PubMed Central

    Cohen, Ronny; Loarte, Pablo; Garcia, Christine; Diaz, Lizmer; Mirrer, Brooks

    2012-01-01

    Kommerell diverticulum (KD) is an aortic arch diverticulum at the origin of an aberrant subclavian artery. It is a rare anatomical anomaly that can be associated with a double aortic arc, a left aortic arch, and anomalous origin of the right subclavian artery or a right aortic arch with anomalous left subclavian artery. We present a case of KD presenting initially as syncope, as well as a review of the literature of this rare syndrome, including diagnosis, imaging techniques, and current surgical treatments. PMID:23730141

  15. Total aortic repair: the new paradigm in the treatment of acute type A aortic dissection

    PubMed Central

    Perera, Nisal K.; Galvin, Sean D.

    2016-01-01

    The surgical management of acute type A aortic dissection (ATAAD) is in a period of rapid evolution. Understanding the complex physiology and anatomy of both acute and chronic dissection has been enhanced by the ready availability of state of the art imaging techniques. Technical advances in the intraoperative monitoring of organ perfusion, together with adjuncts to limit organ injury and increasing sophistication in open and endovascular surgery have led to a major reduction in both perioperative morbidity and mortality. In many centers, there has been a transition in mindset and surgical approach away from a purely central aortic operation focusing on the ascending aorta and a ‘live to fight another day’ philosophy. The current more global perspective recognizes the importance of aortic valve function, malperfusion, false lumen (FL) patency and the potential for future complex aneurysm development. The time is now right to transition into the next phase of sophistication in the management of ATAAD with the aim of achieving not only a safe acute operation, but to either entirely prevent chronic complications or to greatly simplify their management by the creation of an anatomical situation that facilitates future endovascular intervention in place of complex re-do surgery. We present our view on the evolution of surgery for ATAAD leading to our current technique of Branch First Arch replacement and Total Aortic Repair, which not only provides a safe immediate operation, but also offers the hope of a simplified future management if not a total cure for the pathology. PMID:27386409

  16. Extended aortic valvuloplasty: a new approach for the management of congenital valvar aortic stenosis.

    PubMed

    Ilbawi, M N; DeLeon, S Y; Wilson, W R; Roberson, D A; Husayni, T S; Quinones, J A; Arcilla, R A

    1991-09-01

    A new technique for the treatment of congenital valvar aortic stenosis is described. It consists of augmenting the aortic cusp by extending the commissurotomy incision into the aortic wall around the leaflet insertion, mobilizing the valve cusp attachment at the commissures, and freeing the aortic insertion of the rudimentary commissure. The results of standard valvotomy performed on 48 patients (group 1) were compared with those of the new extended valvuloplasty carried out on 16 patients (group 2). The two groups were comparable in age at operation (2.7 +/- 2.1 years for group 1 versus 2.1 +/- 1.7 years for group 2; p = not significant) and in preoperative pressure gradient (58 +/- 25 mm Hg for group 1 versus 61 +/- 36 mm Hg for group 2; p = not significant). There was no operative mortality in either group. Follow-up is available on all patients, with a mean of 4.3 +/- 2.6 years for group 1 versus 1.7 +/- 0.5 years for group 2 (p = 0.05). There was one late death in group 1. Postoperative gradient was 47 +/- 13 mm Hg in group 1 versus 19 +/- 13 mm Hg in group 2 (p = 0.05). Moderate or severe regurgitation was present in 18 patients (38%) in group 1 and 2 patients (13%) in group 2 (p = not significant). Reoperation was needed in 8 patients (17%) in group 1 versus 2 patients (13%) in group 2 (p = not significant). The described valvuloplasty procedure addresses the unique pathological features of valvar aortic stenosis and provides better relief of the obstruction than the presently available techniques. Longer follow-up is needed to determine the late results of this approach.

  17. Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure.

    PubMed Central

    Hay, I D; Smail, P J; Forsyth, C C

    1981-01-01

    Five boys with familial cytomegalic adrenocortical hypoplasia have been followed up for an average of 19 years. Despite treatment with replacement corticosteroids, all 5 failed to show a spontaneous onset of puberty and, when assessed at ages 13 to 19 years, all had both sexual infantilism and skeletal immaturity. Hypogonadism was confirmed by low levels of plasma testosterone, and pituitary reserve of gonadotrophin was shown to be inadequate by testing with gonadotrophin-releasing hormone. Two boys, both with adequate testosterone output on human chorionic gonadotrophin stimulation, were given gonadotrophin therapy, whereas the other 3 were treated with parenterally administered testosterone. With treatment, all 5 patients showed advances in pubertal staging. Although the mechanism of the hypogonadotropism remains unclear, the association of hypogonadotrophic hypogonadism with familial cytomegalic adrenocortical hypoplasia appears to be a constant one and may be considered as a treatable inherited syndrome of pubertal failure. PMID:7197507

  18. 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

  19. Stress analysis in a layered aortic arch model under pulsatile blood flow

    PubMed Central

    Gao, Feng; Watanabe, Masahiro; Matsuzawa, Teruo

    2006-01-01

    Background Many cardiovascular diseases, such as aortic dissection, frequently occur on the aortic arch and fluid-structure interactions play an important role in the cardiovascular system. Mechanical stress is crucial in the functioning of the cardiovascular system; therefore, stress analysis is a useful tool for understanding vascular pathophysiology. The present study is concerned with the stress distribution in a layered aortic arch model with interaction between pulsatile flow and the wall of the blood vessel. Methods A three-dimensional (3D) layered aortic arch model was constructed based on the aortic wall structure and arch shape. The complex mechanical interaction between pulsatile blood flow and wall dynamics in the aortic arch model was simulated by means of computational loose coupling fluid-structure interaction analyses. Results The results showed the variations of mechanical stress along the outer wall of the arch during the cardiac cycle. Variations of circumferential stress are very similar to variations of pressure. Composite stress in the aortic wall plane is high at the ascending portion of the arch and along the top of the arch, and is higher in the media than in the intima and adventitia across the wall thickness. Conclusion Our analysis indicates that circumferential stress in the aortic wall is directly associated with blood pressure, supporting the clinical importance of blood pressure control. High stress in the aortic wall could be a risk factor in aortic dissections. Our numerical layered aortic model may prove useful for biomechanical analyses and for studying the pathogeneses of aortic dissection. PMID:16630365

  20. Midaortic syndrome presenting as neonatal hypertension.

    PubMed

    Das, Bibhuti B; Recto, Michael; Shoemaker, Lawrence; Mitchell, Michael; Austin, Erle H

    2008-09-01

    We describe a case of mid-aortic syndrome presenting as systemic hypertension in infancy and early childhood. Angiography of the descending and abdominal aorta is the diagnostic test of choice to confirm the diagnosis of mid-aortic syndrome. Severity of hypertension is one of the major factors in determining the timing of intervention. Because of variability in the anatomic extent of mid-aortic syndrome, management options need to be individualized.

  1. Secondary aortoesophageal fistula after thoracic aortic aneurysm endovascular repair: literature review and new insights regarding the hypothesized mechanisms

    PubMed Central

    Xi, Er-Ping; Zhu, Jian; Zhu, Shui-Bo; Zhang, Yu

    2014-01-01

    Background: Endovascular aortic repair was first performed nearly two decades ago and has become a well-established alternative therapy for many thoracoabdominal aortic diseases. Early survival results with the endovascular aortic repair were impressive, but it also brought many complications. Aortoesophageal fistula is little-known and may be underestimated because it is an unusual complication of thoracic endovascular aortic repair. Objective: To provide a review of the general features of aortoesophageal fistula as a little-known complication after thoracic endovascular aortic repair and to present a new insight regarding the hypothesized mechanisms of this complication based on clinical experience. Methods: The new insights regarding the hypothesized mechanisms built on the literature review and clinical experience. Literature Review from PubMed and Web of Knowledge for relevant studies with English paper. Searches were performed without year, and used the combinations of the following key words: “thoracic aortic aneurysm”, “endovascular”, “aortoesophageal fistula”, “complication”. Results: The authors’ hypothesized mechanisms of aortoesophageal fistula after thoracic aortic aneurysm endovascular repair include the relatively thin vessel wall on thoracic aortic aneurysm hard to prevent the relatively rigid stent graft projecting the aortic and direct erosion into the esophagus. Conclusion: Selecting flexibility and appropriate size stent graft, avoiding the thin aortic wall, and identifying the risk factors may reduce the morbidity of complications with aortoesophageal fistula after thoracic aortic aneurysm endovascular repair. PMID:25419355

  2. Interproximal contact hypoplasia in primary teeth: A new enamel defect with anthropological and clinical relevance.

    PubMed

    Lukacs, John R.

    1999-11-01

    This study reports the prevalence, distribution, and expression of enamel defects in a sample of primary teeth (n = 225) from a prehistoric site in western India (1400-700 BC). Five enamel surfaces of individual, isolated primary teeth were observed for surface defects using a binocular stereomicroscope with variable power of magnification (8-20x). Standards for evaluating dental enamel defects (DDE) recommended by the Fédération Dentaire International (FDI) were employed. Details of defect expression were also recorded, including size, shape, and surface of tooth crown affected. Hypoplastic enamel defects were observed in 28% of teeth, but the distribution and expression of defects was not random. More than 50% of canine teeth had hypoplastic defects (HD); incisors and molar teeth exhibited far fewer HD. The buccal surface of canines was the most commonly affected crown surface. Areas of missing enamel were also common on the mesial and distal surfaces of canines and incisors and on the mesial surface of molar teeth. The high frequency of enamel defects found on interproximal crown surfaces warrants a label, and the name interproximal contact hypoplasia (IPCH) is proposed. Linear enamel hypoplasia (LEH) was absent from this primary dental sample. IPCH is more frequent in mandibular than in maxillary teeth, but no side preference was detected. In canine teeth, buccal hypoplasias (localized hypoplasia of primary canines; LHPC) were not positively correlated with interproximal hypoplastic defects. The etiology of IPCH may involve mesial compaction of developing teeth due to slow longitudinal growth of the jaws. Episodic bone remodeling results in ephemeral fenestrae in the mesial and distal walls of the dental crypt permitting tooth-tooth contact and disruption of amelogenesis. IPCH prevalence decreases across the subsistence transition from sedentary Early Jorwe agriculturalists to seminomadic Late Jorwe hunters and foragers, but the difference is not

  3. Reoperative Aortic Root Replacement in Patients with Previous Aortic Root or Aortic Valve Procedures

    PubMed Central

    Chong, Byung Kwon; Jung, Sung-Ho; Choo, Suk Jung; Chung, Cheol Hyun; Lee, Jae Won; Kim, Joon Bum

    2016-01-01

    Background Generalization of standardized surgical techniques to treat aortic valve (AV) and aortic root diseases has benefited large numbers of patients. As a consequence of the proliferation of patients receiving aortic root surgeries, surgeons are more frequently challenged by reoperative aortic root procedures. The aim of this study was to evaluate the outcomes of redo-aortic root replacement (ARR). Methods We retrospectively reviewed 66 patients (36 male; mean age, 44.5±9.5 years) who underwent redo-ARR following AV or aortic root procedures between April 1995 and June 2015. Results Emergency surgeries comprised 43.9% (n=29). Indications for the redo-ARR were aneurysm (n=12), pseudoaneurysm (n=1), or dissection (n=6) of the residual native aortic sinus in 19 patients (28.8%), native AV dysfunction in 8 patients (12.1%), structural dysfunction of an implanted bioprosthetic AV in 19 patients (28.8%), and infection of previously replaced AV or proximal aortic grafts in 30 patients (45.5%). There were 3 early deaths (4.5%). During follow-up (median, 54.65 months; quartile 1–3, 17.93 to 95.71 months), there were 14 late deaths (21.2%), and 9 valve-related complications including reoperation of the aortic root in 1 patient, infective endocarditis in 3 patients, and hemorrhagic events in 5 patients. Overall survival and event-free survival rates at 5 years were 81.5%±5.1% and 76.4%±5.4%, respectively. Conclusion Despite technical challenges and a high rate of emergency conditions in patients requiring redo-ARR, early and late outcomes were acceptable in these patients. PMID:27525233

  4. 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.

  5. 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

  6. 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.

  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. [ENDOVASCULAR ABDOMINAL AORTIC ANEURISM REPAIR].

    PubMed

    Maĭstrenko, D N; Generalov, M I; Tarazov, P G; Zherebtsov, F K; Osovskikh, V V; Ivanov, A S; Oleshchuk, A N; Granov, D A

    2015-01-01

    The authors analyzed the single-center experience of treatment of 72 patients with abdominal aortic aneurisms and severe accompanied pathology. The aneurisms were repaired by stent-grafts. All the patients had abdominal aortic aneurisms with the diameters from 41 to 84 mm against the background of severe somatic pathology. It was a contraindication to planned open surgery. An installation of stent-graft was successful in all 72 follow-ups. It wasn't necessary to use a conversion to open surgery. The follow-up period consisted of 44,6?2,1 months. Control ultrasound and computer tomography studies hadn't revealed an increase of aneurism sack sizes or "eakages". A reduction of abdominal aortic aneurism sizes was noted in 37 patients on 4-5% during first year after operation. The stent-graft implantation extends the possibilities of abdominal aortic aneurism treatment for patients from a high surgical risk group. PMID:26234059

  9. Aortic dissection--an update.

    PubMed

    Mukherjee, Debabrata; Eagle, Kim A

    2005-06-01

    Acute aortic dissection is a medical emergency with high morbidity and mortality requiring emergent diagnosis and therapy. Rapid advances in noninvasive imaging technology have facilitated the early diagnosis of this condition and should be considered in the differential diagnosis of any patient with chest, back, or abdominal pain. Emergent surgery is the treatment for patients with type A dissection while optimal medical therapy is appropriate in patients with uncomplicated type B dissection. Adequate beta-blockade is the cornerstone of medical therapy. Patients who survive acute aortic dissection need long-term medical therapy with beta-blockers and statins and appropriate serial imaging follow-up. Future advances in this field include biomarkers in the early diagnosis of acute aortic dissection and presymptomatic diagnosis with genetic screening. Overall patients with aortic dissection are at high risk for an adverse outcome and need to be managed aggressively in hospital and long term with frequent follow-up. PMID:15973249

  10. Transcatheter Aortic Valve-in-Valve Replacement Instead of a 4th Sternotomy in a 21-Year-Old Woman with Aortic Homograft Failure

    PubMed Central

    Díez, José G.; Schechter, Michael; Dougherty, Kathryn G.; Preventza, Ourania

    2016-01-01

    Transcatheter aortic valve replacement (TAVR) is a well-established method for replacing native aortic valves; however, it was conceived for elderly patients with aortic valve stenosis, and the lack of data on long-term durability has led practitioners to restrict the use of TAVR to patients who have short life expectancies. Here, we describe the case of a 21-year-old woman who had undergone 3 previous open aortic valve replacements and who presented with symptoms of recurrent valvular failure. Transthoracic echocardiograms and computed tomographic angiograms revealed a degenerating aortic root homograft with substantial calcification, moderate-to-severe aortic valve stenosis, and severe aortic valve regurgitation. Open surgical valve replacement posed substantial risk to our patient, so we decided to perform valve-in-valve TAVR with use of the Edwards Sapien XT Transcatheter Heart Valve. The patient's pulmonary artery pressure, valvular regurgitation, and symptoms improved substantially thereafter. We found that valve-in-valve TAVR into a failing aortic root homograft was less invasive than repeat surgical valve replacement in this young patient who had congenital vascular anomalies and a complex surgical history. PMID:27547146

  11. Mediastinal Packing for Intractable Coagulopathy in Acute Aortic Dissection (Types 1 and 2 DeBakey): A Life-Saving Technique—Report of Experiences

    PubMed Central

    Moeinipour, Aliasghar; Fathi, Mehdi; Sepehri Shamloo, Alireza; Amini, Shahram; Hoseinikhah, Hamid; Kianinejad, Akram

    2015-01-01

    Nonsurgical bleeding after complex thoracic aortic procedures (such as aortic dissection and aortic aneurysm) is a great challenge for cardiac surgeons because of severe coagulopathy, exsanguinous bleeding, and inevitable death. Temporary mediastinal packing (with sponge) in such cases is the only life-saving technique with good result in most cases. Herein, we presented three cases with acute aortic dissection with intractable bleeding that was successfully managed with mediastinal packing. PMID:26435855

  12. Non coding RNAs in aortic aneurysmal disease

    PubMed Central

    Duggirala, Aparna; Delogu, Francesca; Angelini, Timothy G.; Smith, Tanya; Caputo, Massimo; Rajakaruna, Cha; Emanueli, Costanza

    2015-01-01

    An aneurysm is a local dilatation of a vessel wall which is >50% its original diameter. Within the spectrum of cardiovascular diseases, aortic aneurysms are among the most challenging to treat. Most patients present acutely after aneurysm rupture or dissection from a previous asymptomatic condition and are managed by open surgical or endovascular repair. In addition, patients may harbor concurrent disease contraindicating surgical intervention. Collectively, these factors have driven the search for alternative methods of identifying, monitoring and treating aortic aneurisms using less invasive approaches. Non-coding RNA (ncRNAs) are emerging as new fundamental regulators of gene expression. The small microRNAs have opened the field of ncRNAs capturing the attention of basic and clinical scientists for their potential to become new therapeutic targets and clinical biomarkers for aortic aneurysm. More recently, long ncRNAs (lncRNAs) have started to be actively investigated, leading to first exciting reports, which further suggest their important and yet largely unexplored contribution to vascular physiology and disease. This review introduces the different ncRNA types and focus at ncRNA roles in aorta aneurysms. We discuss the potential of therapeutic interventions targeting ncRNAs and we describe the research models allowing for mechanistic studies and clinical translation attempts for controlling aneurysm progression. Furthermore, we discuss the potential role of microRNAs and lncRNAs as clinical biomarkers. PMID:25883602

  13. Cadaveric aorta implantation for aortic graft infection.

    PubMed

    Ali, Asad; Bahia, Sandeep S S; Ali, Tahir

    2016-01-01

    This case report describes a 73-year-old gentleman who underwent explantation of an infected prosthetic aorto-iliac graft and replacement with a cryopreserved thoracic and aorto-iliac allograft. The patient has been followed up a for more than a year after surgery and remains well. After elective tube graft repair of his abdominal aortic aneurysm (AAA) in 2003, he presented to our unit in 2012 in cardiac arrest as a result of a rupture of the distal graft suture line due to infection. After resuscitation he underwent aorto-bifemoral grafting using a cuff of the original aortic graft proximally. Distally the new graft was anastomosed to his common femoral arteries, with gentamicin beads left in situ. Post discharge the patient was kept under close surveillance with serial investigations including nuclear scanning, however it became apparent that his new graft was infected and that he would require aortic graft replacement, an operation with a mortality of at least 50%. The patient underwent the operation and findings confirmed a synthetic graft infection. This tube graft was explanted and a cryopreserved aorta was used to the refashion the abdominal aorta and its bifurcation. The operation required a return to theatre day one post operatively for a bleeding side branch, which was repaired. The patient went on to make a full recovery stepping down from the intensive therapy unit day 6 post operatively and went on to be discharged 32 days after his cryopreserved aorta implantation. PMID:27351624

  14. Effect of abdominal aortic grafts on aortic stiffness and central hemodynamics.

    PubMed

    Lantelme, Pierre; Dzudie, Anastase; Milon, Hugues; Bricca, Giampiero; Legedz, Liliana; Chevalier, Jean-Michel; Feugier, Patrick

    2009-06-01

    Graft-prosthesis and stentgraft placements are effective modalities for treating abdominal aortic aneurysm, but related changes in arterial stiffness are not well established. The present study sought to assess aortic stiffness after aneurism repair by measuring pulse wave velocity (PWV). The graft-related variation of carotid-femoral PWV was compared with that of carotid-radial PWV, the latter being unaffected by vascular treatment. The secondary objective was to evaluate potential differences between graft-prosthesis and stentgraft in terms of aortic stiffness and augmentation index, a composite indicator integrating wave reflexion. Fifty patients were included (39 had a graft-prosthesis and 11 had a stentgraft). In the whole group and after a median postoperative follow-up of 47 days, carotid-femoral PWV increased by +1.0 m/s [-12.3, +10.3], while carotid-radial PWV slightly decreased by -0.3 m/s [-4.4; +3.5] (P = 0.001). The effect of the type of prosthesis on the PWV was not significant. Nevertheless, the augmentation index increased after stentgraft implantation (+4% [-10; +17]) and decreased after graft-prosthesis placement (-8.5% [-47; +17]) (P < 0.01). This difference was not explained by a heart rate or a treatment effect and was likely attributable to the prosthesis per se. This study demonstrates the impact of aortic grafts on aortic stiffness. Besides, it suggests that stentgraft increases reflected waves more than graft-prostheses. These changes of vascular properties may influence the outcomes after surgery. PMID:19342960

  15. Experimental measurement of dynamic fluid shear stress on the aortic surface of the aortic valve leaflet

    PubMed Central

    Yap, Choon Hwai; Saikrishnan, Neelakantan; Tamilselvan, Gowthami

    2011-01-01

    Aortic valve (AV) calcification is a highly prevalent disease with serious impact on mortality and morbidity. Although exact causes and mechanisms of AV calcification are unclear, previous studies suggest that mechanical forces play a role. Since calcium deposits occur almost exclusively on the aortic surfaces of AV leaflets, it has been hypothesized that adverse patterns of fluid shear stress on the aortic surface of AV leaflets promote calcification. The current study characterizes AV leaflet aortic surface fluid shear stresses using Laser Doppler velocimetry and an in vitro pulsatile flow loop. The valve model used was a native porcine valve mounted on a suturing ring and preserved using 0.15% glutaraldehyde solution. This valve model was inserted in a mounting chamber with sinus geometries, which is made of clear acrylic to provide optical access for measurements. To understand the effects of hemodynamics on fluid shear stress, shear stress was measured across a range of conditions: varying stroke volumes at the same heart rate and varying heart rates at the same stroke volume. Systolic shear stress magnitude was found to be much higher than diastolic shear stress magnitude due to the stronger flow in the sinuses during systole, reaching up to 20 dyn/cm2 at mid-systole. Upon increasing stroke volume, fluid shear stresses increased due to stronger sinus fluid motion. Upon increasing heart rate, fluid shear stresses decreased due to reduced systolic duration that restricted the formation of strong sinus flow. Significant changes in the shear stress waveform were observed at 90 beats/ min, most likely due to altered leaflet dynamics at this higher heart rate. Overall, this study represents the most well-resolved shear stress measurements to date across a range of conditions on the aortic side of the AV. The data presented can be used for further investigation to understand AV biological response to shear stresses. PMID:21416247

  16. Endograft failure in an adult patient with coarctation and bicuspid aortic valve.

    PubMed

    Dimarakis, Ioannis; Grant, Stuart; Kadir, Isaac

    2013-06-01

    A 25-year-old man presented with associated bicuspid aortic valve and coarctation of the aorta. Following aortic valve replacement, he underwent endovascular stenting of his native coarctation. We describe early failure of the latter procedure that necessitated definitive surgical correction.

  17. Minimal traumatic aortic injuries: meaning and natural history.

    PubMed

    Mosquera, Victor X; Marini, Milagros; Gulías, Daniel; Cao, Ignacio; Muñiz, Javier; Herrera-Noreña, José Manuel; López-Pérez, José Manuel; Cuenca, José Joaquin

    2012-06-01

    OBJECTIVE Minimal aortic injuries (MAIs) are being recognized more frequently due to the increasing use of high-resolution diagnostic techniques. The objective of this case series review was to report the clinical and radiological characteristics and outcomes of a series of patients with MAI. METHODS From January 2000 to December 2011, 54 major blunt trauma patients were admitted to our institution with traumatic aortic injuries. Nine of them presented with MAI, whereas the remaining 45 patients suffered a significant aortic injury (SAI). RESULTS MAIs accounted for 17% of the overall traumatic aortic injuries in our series. Major trauma patients with MAI and SAI were similar regarding the presence of severe associated non-aortic injuries and the expected mortality calculated by injury severity score, revised trauma score and trauma injury severity score. There were no statistically significant differences in in-hospital mortality between MAI (22.2%) and SAI (30.2%). No death in the MAI group was aortic related, whereas five deaths in the SAI group were caused by an aortic complication. The survival of MAI patients was 77.8% at 1 and 5 years. There was no late mortality among MAI patients. The survival of SAI patients was 69.7% at 1 year and 63.6% at 5 and 10 years. None of the seven surviving patients with MAI presented a progression of the aortic injury. In six patients, the intimal tear completely healed in imaging controls, whereas one patient developed a small saccular pseudoaneurysm. CONCLUSIONS Blunt traumas presenting MAI are as severe as traumas that associate SAI and present similar in-hospital mortality. In contrast to SAI traumas, in-hospital mortality due to MAI is not usually related to the aortic injury, so these injuries are more amenable to a conservative management. It is mandatory to perform a close imaging surveillance to detect early any potential adverse evolution of an MAI. Nevertheless, a balance must be struck between a close serial imaging

  18. The hemostatic disturbance in patients with acute aortic dissection

    PubMed Central

    Guan, Xinliang; Li, Jiachen; Gong, Ming; Lan, Feng; Zhang, Hongjia

    2016-01-01

    Abstract Coagulopathy is still a frequent complication in the surgical treatment of acute aortic dissection. However, the physiopathology of surgically induced coagulopathy has never been systematically and comprehensively studied in patients with acute aortic dissection. The aim of the present study was to describe the perioperative hemostatic system in patients with acute aortic dissection. The 87 patients who underwent aortic arch surgery for acute Stanford type A aortic dissection from January 2013 to September 2015 were enrolled in this study. The perioperative biomarkers of hemostatic system were evaluated using standard laboratory tests and enzyme-linked immunosorbent assays (ELISAs) at 5 time points: anesthesia induction (T1), lowest nasopharyngeal temperature (T2), protamine reversal (T3), 4 hours after surgery (T4), and 24 hours after surgery (T5). The ELISAs biomarkers revealed activation of coagulation (thrombin-antithrombin III complex [TAT] and prothrombin fragment 1 + 2 [F1 + 2] were elevated), suppression of anticoagulation (antithrombin III [AT III] levels were depressed), and activation of fibrinolysis (plasminogen was decreased and plasmin-antiplasmin complex [PAP] was elevated). The standard laboratory tests also demonstrated that surgery resulted in a significant reduction in platelet counts and fibrinogen concentration. Systemic activation of coagulation and fibrinolysis, and inhibition of anticoagulation were observed during the perioperative period in patients with acute aortic dissection. Indeed, these patients exhibited consumption coagulopathy and procoagulant state perioperatively. Therefore, we believe that this remarkable disseminated intravascular coagulation (DIC)-like coagulopathy has a high risk of bleeding and may influence postoperative outcome of patients with acute aortic dissection. PMID:27603366

  19. Aortic arch thrombectomy in a 2.8 kilogram neonate--a case report and review of the literature.

    PubMed

    Omeje, Ikenna; Ram, Awat; Kostolny, Martin

    2013-02-01

    Aortic arch thrombus is a rare occurrence in neonates. In the few described cases, this has mainly been associated with sepsis or early postnatal interventions, such as insertion of umbilical arterial line. We describe a case of occlusive aortic arch thrombus in a neonate who presented with signs of critical coarctation and successfully underwent surgical thrombectomy on deep hypothermic circulatory arrest. We also present a review of the most recently published cases of aortic arch thrombus in neonates and the treatment options employed.

  20. An evidence-based approach to acute aortic syndromes.

    PubMed

    Lo, Bruce M

    2013-12-01

    Aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer are parts of a spectrum of acute aortic syndromes that represent uncommon--but potentially deadly--diagnoses seen in the emergency department. The differential for acute aortic syndromes is large, as many conditions (including the much more common conditions of acute coronary syndromes and pulmonary embolism) present with many of the same chief complaints. This review looks at the features and classifications of acute aortic syndromes and presents evidence regarding the risk factors and chief complaints that can assist emergency clinicians in identifying the patients who require further investigation. Although no set of clinical factors has been shown to rule out aortic dissection, elements of a complete history and physical examination are critical in identifying patients who may be at risk for these diseases. In addition, the advantages and disadvantages of the various available advanced imaging strategies, the evidence regarding efficacy of laboratory testing (including D-dimer), as well as surgical and nonsurgical treatment options are reviewed.

  1. Type A acute aortic dissection in nonagenarian: rare but possible.

    PubMed

    Citro, Rodolfo; Patella, Marco Mariano; Provenza, Gennaro; Gregorio, Giovanni; Bossone, Eduardo

    2007-09-01

    Acute type A aortic dissection (TA-AAD) is a highly lethal clinical entity that can occur within a wide age range, associated with multiple aetiologies and various clinical presentations. In the very elderly type A aortic dissection frequently presents with non-specific symptoms and signs and is associated with high mortality and morbidity. Thus the clinician must have a high index of clinical suspicion in order to prompt the most appropriate diagnostic-therapeutic strategy. We report a nonagenarian women with TA-AAD, treated successfully with medical therapy.

  2. [Right aortic arch, Kommerell's diverticulum and aberrant left subclavian artery].

    PubMed

    Simón-Yarza, I; Viteri-Ramírez, G; Etxano, J; Roblero, P Slon; Ferreira, M; Alemañ, G Bastarrika

    2011-01-01

    The right aberrant subclavian artery or "arteria lusoria" is the most common anatomical variant of the embryonic development of the aorta and its branches, with a presence in 0.5-2% of the population. Less frequently, a right aortic arch with aberrant left subclavian artery may be present. These anatomical variations should be included in the differential diagnosis of superior mediastinal widening seen on chest radiographs. In this report, we present a right aortic arch with left aberrant subclavian artery dilated at its origin (Kommerell's diverticulum) as a cause of superior mediastinal widening detected incidentally on a chest radiograph.

  3. Right aortic arch and Kommerell's diverticulum associated with acute aortic dissection and pericardial tamponade

    PubMed Central

    Ebner, Lukas; Huber, Andreas; Christe, Andreas

    2013-01-01

    The right-sided aorta associated with an aberrant left subclavian artery is a rare anomaly of the aortic branches in the upper mediastinum. We present a 62-year-old patient suffering from an acute dissection of the ascending aorta associated with hemopericardium. In this case, there was also aneurysmal dilatation of the origin of the left subclavian artery, known as diverticulum of Kommerell. PMID:23986854

  4. 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

  5. Ascending Aortic Slide for Interrupted Aortic Arch Repair.

    PubMed

    Urencio, Miguel; Dodge-Khatami, Ali; Greenleaf, Chris E; Aru, Giorgio; Salazar, Jorge D

    2016-09-01

    For repair of interrupted aortic arch, unfavorable anatomy challenges a tension-free anastomosis. We describe a useful alternative surgical technique used in five neonates/infants, involving splitting the ascending aorta from the sinotubular junction to the arch origin, leftward and posterior "sliding" of the flap with anastomosis to the distal arch creating a native tissue bridge, and reconstruction with a patch. With wide interruption gaps between proximal and distal aortic portions, the ascending aortic slide is a safe and reproducible technique, providing a tension-free native tissue bridge with potential for growth, and a scaffold for patch augmentation in biventricular hearts, or for Norwood stage I in univentricular palliation. PMID:27587504

  6. 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.

  7. 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.

  8. Does atorvastatin induce aortic smooth muscle cell apoptosis in vivo?

    PubMed

    Doyon, Marielle; Hale, Taben Mary; Huot-Marchand, Julie-Emilie; Wu, Rong; de Champlain, Jacques; DeBlois, Denis

    2011-01-01

    It has been reported that HMG-CoA reductase inhibitors such as atorvastatin induce vascular smooth muscle cell (SMC) apoptosis in vitro. However, this effect remains to be demonstrated in vivo. The present studies were designed to test the ability of atorvastatin to induce SMC apoptosis in vivo, using the spontaneously hypertensive rat (SHR) as a well-known reference model of SMC apoptosis induction in vivo by cardiovascular drugs including the calcium channel blocker amlodipine. Atorvastatin was administered to SHR for 3 or 6 weeks either alone or together with amlodipine, a drug combination clinically available to patients. Primary endpoints included aortic medial hypertrophy and aortic SMC hyperplasia, internucleosomal DNA fragmentation and expression of the apoptosis regulatory proteins Bax and Bcl-2. The SHR aorta showed no evidence of SMC apoptosis induction by atorvastatin, even at the high dose of 50 mg kg(-1) day(-1), although the statin significantly reduced oxidative stress after 3 weeks and blood pressure after 6 weeks of administration. Amlodipine-induced regression of aortic hypertophy and aortic SMC hyperplasia were dose- and time-dependent, but there was no interaction between atorvastatin and amlodipine in modulating the primary endpoints. These results do not support the notion that atorvastatin induces SMC apoptosis in the aortic media in vivo.

  9. Treatment of acute thoracic aortic syndromes using endovascular techniques

    PubMed Central

    Uğuz, Emrah; Canyiğit, Murat; Hıdıroğlu, Mete; Şener, Erol

    2016-01-01

    PURPOSE Acute thoracic aortic syndrome (ATAS) is a novel term to define emergency aortic conditions with common clinical features and challenges. Traditional management of ATAS includes surgical replacement of the aorta and is correlated with high perioperative mortality and morbidity. We aimed to evaluate our experience and outcomes in patients presenting with ATAS, managed by endovascular techniques. METHODS This cohort consisted of 31 consecutive patients (24 males; mean age, 57.5±13.81 years; range, 19–84 years) with acute thoracic aortic pathologies who underwent endovascular repair between January 2011 and January 2015. The study was designed as a retrospective analysis of prospectively maintained data. RESULTS Complicated acute type-B aortic dissection was the most common pathology (35.5%). All aortic stent-grafts (n=37) and dissection stents (n=9) were implanted with 100% procedural success. The overall in-hospital mortality was 9.7%. The mean follow-up duration of patients who were alive at 30 days was 25.9±11.49 months (3–53 months). So far, there have been no late deaths after 30 days. CONCLUSION In the high-risk setting of ATAS, endovascular procedures come forward as novel therapeutic strategies with promising results. Endovascular repair of ATAS can be considered as a first-line treatment alternative under emergency conditions with encouraging results, particularly when conventional surgical repair cannot be implemented due to prohibitive comorbidities. PMID:27113420

  10. [Late complication of surgical repair of aortic coarctation: ruptured pseudoaneurysm of the aorta treated by thoracic endovascular aortic repair].

    PubMed

    Varejka, P; Lubanda, J C; Prochazka, P; Heller, S; Beran, S; Dostal, O; Charvat, F; Horejs, J; Semrad, M; Linhart, A

    2010-06-01

    Aortic coarctation is a frequent congenital defect requiring early surgical treatment. Late complications of these surgical procedures can be fatal as in the case of a ruptured anastomotic pseudoaneurysm. We present a case of a 49-year-old man presenting with hemorrhagic shock due to this complication who was successfully treated by endovascular techniques with implantation of two stent grafts. This case illustrates the fact that endovascular aortic repair is feasible, certainly less invasive and very efficient for this type of complication when used in an experienced center.

  11. 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

  12. Dental enamel growth, perikymata and hypoplasia in ancient tooth crowns.

    PubMed Central

    Hillson, S W

    1992-01-01

    This paper describes the hypoplastic defects commonly seen on the surface of ancient human tooth crowns, excavated from archaeological sites, and presents a new method for estimating the ages at which these defects were initiated during life. The method is based upon examination of microscopic incremental structures on the enamel surface and it is possible also to apply it to reconstruction of the sequence and timing of dental crown development. The method of examination is non-destructive and allows full use to be made of the large numbers of complete, unworn dentitions which are found amongst archaeological remains. Images Figure 1. Figure 4. PMID:1404194

  13. Open aortic surgery after thoracic endovascular aortic repair.

    PubMed

    Coselli, Joseph S; Spiliotopoulos, Konstantinos; Preventza, Ourania; de la Cruz, Kim I; Amarasekara, Hiruni; Green, Susan Y

    2016-08-01

    In the last decade, thoracic endovascular aortic aneurysm repair (TEVAR) has emerged as an appealing alternative to the traditional open aortic aneurysm repair. This is largely due to generally improved early outcomes associated with TEVAR, including lower perioperative mortality and morbidity. However, it is relatively common for patients who undergo TEVAR to need a secondary intervention. In select circumstances, these secondary interventions are performed as an open procedure. Although it is difficult to assess the rate of open repairs after TEVAR, the rates in large series of TEVAR cases (>300) have ranged from 0.4 to 7.9 %. Major complications of TEVAR that typically necessitates open distal aortic repair (i.e., repair of the descending thoracic or thoracoabdominal aorta) include endoleak (especially type I), aortic fistula, endograft infection, device collapse or migration, and continued expansion of the aneurysm sac. Conversion to open repair of the distal aorta may be either elective (as for many endoleaks) or emergent (as for rupture, retrograde complicated dissection, malperfusion, and endograft infection). In addition, in select patients (e.g., those with a chronic aortic dissection), unrepaired sections of the aorta may progressively dilate, resulting in the need for multiple distal aortic repairs. Open repairs after TEVAR can be broadly classified as full extraction, partial extraction, or full salvage of the stent-graft. Although full and partial stent-graft extraction imply failure of TEVAR, such failure is generally absent in cases where the stent-graft can be fully salvaged. We review the literature regarding open repair after TEVAR and highlight operative strategies.

  14. 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).

  15. Svensson class IV Ascending aortic dissection, often confused with penetrating ulcer.

    PubMed

    Mitsomoy, Michel Francklyn; Alexoiu, Valerica; Kirsch, Matthias

    2015-01-01

    TWe present the case of a 64 years old male patient who had recently suffered an infective aortic valve endocarditis (Streptococcus agalactiae) complicated by embolic arthritis of the right hip. Initial echocardiography revealed moderate aortic insufficiency developed on a tricuspid aortic valve with a small vegetation (5 mm × 4 mm) on the left coronary cusp. Furthermore, an aneurysmal dilatation of the ascending aorta (maximal diameter, 54 mm) was noted. Other heart valves and left ventricular function were considered normal. The patient completed a 4 weeks course of antibiotherapy, and the right hip arthritis was treated by drainage and synovectomy. The patient was subsequently referred to surgery on an outpatient basis for the aneurysm of the ascending aorta. Preoperative computed tomography showed localized aortic dissection of the tubular ascending aorta characterized by an intimal tear without medial hematoma but excentric bulging of the aortic wall. This lesion was initially considered a penetrating ulcer of the aortic wall The operative specimen allowed to make differential diagnosis with a penetrating aortic ulcer by showing that the lesion did not develop within an atherosclerotic plaque. However, downstream extension of the dissection was probably limited by the presence of transmural calcifications on its distal side. The patient underwent successful complete aortic root replacement using a stentless Freestyle bioprosthesis with Dacron graft extension as reported previously. PMID:25859316

  16. Aortic regurgitation caused by rupture of the abnormal fibrous band between the aortic valve and aortic wall.

    PubMed

    Minami, Hiroya; Asada, Tatsuro; Gan, Kunio; Yamada, Akitoshi; Sato, Masanobu

    2011-07-01

    This report documents the sudden onset of aortic regurgitation (AR) by an exceptional cause. A 68-year-old woman suddenly experienced general fatigue, and AR was diagnosed. One year later, we performed aortic valve replacement. At surgery, three aortic cusps with a larger noncoronary cusp had prolapsed along with a free-floating fibrous band that had previously anchored the cusp to the aortic wall. Its rupture had induced the sudden onset of AR. There was no sign of infectious endocarditis. We performed successful aortic valve replacement. PMID:21751110

  17. 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

  18. Multiple endovascular aortic aneurysm repair graft failures and re-interventions over 15 years

    PubMed Central

    Belchos, Jessica; Wheatcroft, Mark; Moloney, Tony

    2015-01-01

    Re-intervention on abdominal aortic aneurysm treated by endovascular aortic aneurysm repair for complications such as endoleak, graft migration, and graft failure is relatively common. However, re-do endovascular aortic aneurysm repair can be complex, as the failed graft still resides within the vessel. In addition, some re-do endovascular aortic aneurysm repairs call for an advanced custom graft, which can further increase the complexity and technical skill required. We describe a case of a 15-year-old endovascular aortic aneurysm repair originally implanted in a 71-year-old man, followed by three separate complications requiring intervention. We describe important procedural decisions taken into consideration when presented with failure of an older graft. PMID:27489701

  19. 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

  20. IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

    PubMed

    Phillips, Katherine; Arroyo, May R; Duckworth, Lizette Vila

    2014-01-01

    We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells).

  1. A Novel Technique To Correct Multiplanar Maxillary Hypoplasia

    PubMed Central

    Charlu, Arun Paul; Chacko, Rabin Kurudamannil; Kumar, Saurabh

    2016-01-01

    Dental malocclusion and facial deformity are frequent observations in patients with clefts of the orofacial region. These patients have a low self perception secondary to their aesthetic appearance. Cleft palate patients are further affected in their speech and oral function with direct impediment to their quality of life. Early identification and treatment in cleft lip and palate patients may directly enhance their overall well being and productivity with sustainable prognosis when managed by skilled and evidence informed operators. We present a successful case management of a patient with a cleft palate and dentofacial deformity with a past surgical history, treated with an anterior maxillary advancement osteotomy, stabilized with an interpositional non vascular iliac bone graft. The posterior open bite was corrected using overlay full coverage crowns. Both these techniques are rarely reported in the literature. The procedure positively improved the quality of life in our patient with regards to her aesthetics, speech and function. This treatment approach could be considered in similar cases to achieve predictable outcomes. PMID:27190966

  2. Delayed coronary ischemia after transfemoral aortic valve implantation.

    PubMed

    Jategaonkar, Smita R; Dimitriadis, Zisis; Hakim-Meibodi, Kavous; Gummert, Jan; Horstkotte, Dieter; Scholtz, Werner

    2013-11-01

    Transcatheter aortic valve implantation (TAVI) offers a less invasive treatment alternative to surgical aortic valve replacement for high-risk patients. Although the procedure can be performed at low risk, life-threatening complications may arise in single cases during or even months after the procedure. Here, the details are presented of two patients who underwent TAVI by a transfemoral approach with Medtronic CoreValve prostheses and suffered myocardial ischemia months later. The patients' anatomy with small aortic root, narrow sinus of Valsalva and small distance between the annulus base and coronary arteries and/or the relative oversizing of the CoreValve prosthesis with a high positioning may have contributed to this late complication. Hence, caution is mandatory in this type of patient, with exact pre-procedural planning and close follow up required. PMID:24597395

  3. 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

  4. Transcatheter Aortic Valve Replacement: a Kidney’s Perspective

    PubMed Central

    Cheungpasitporn, Wisit; Thongprayoon, Charat; Kashani, Kianoush

    2016-01-01

    Transcatheter aortic valve replacement (TAVR) has now emerged as a viable treatment option for high-risk patients with severe aortic stenosis (AS) who are not suitable candidates for surgical aortic valve replacement (SAVR). Despite encouraging published outcomes, acute kidney injury (AKI) is common and lowers the survival of patients after TAVR. The pathogenesis of AKI after TAVR is multifactorial including TAVR specific factors such as the use of contrast agents, hypotension during rapid pacing, and embolization; preventive measures may include pre-procedural hydration, limitation of contrast dye exposure, and avoidance of intraprocedural hypotension. In recent years, the number of TAVR performed worldwide has been increasing, as well as published data on renal perspectives of TAVR including AKI, chronic kidney disease, end-stage kidney disease, and kidney transplantation. This review aims to present the current literature on the nephrology aspects of TAVR, ultimately to improve the patients’ quality of care and outcomes. PMID:27069960

  5. Metastatic neuroendocrine carcinoma of aortic body origin in a cat.

    PubMed

    Hansen, Sonya C; Smith, Annette N; Kuo, Kendon W; Fish, Eric J; Koehler, Jey W; Martinez-Romero, Gisela; Bacek, Lenore M

    2016-09-01

    An 8-year-old, female spayed Domestic Shorthair cat was presented to the Auburn University Emergency and Critical Care service for evaluation of pleural effusion and a suspected intrathoracic mass. Computed tomography was performed which confirmed the presence of a large intrathoracic mass, likely heart-based. Fine-needle aspirates were obtained and a cytologic diagnosis of a neuroendocrine tumor was made. Treatment with toceranib phosphate was briefly attempted at home by the owners. The cat died at home approximately 6 weeks after diagnosis. Necropsy and subsequent histopathologic examination revealed a metastatic neuroendocrine carcinoma of aortic body origin. Aortic body tumors are extremely rare in cats and to the authors' knowledge, a neuroendocrine carcinoma of aortic body origin with distant metastases has not yet been reported in a cat. PMID:27564688

  6. Aortic dissection accompanied by preeclampsia in a postpartum young woman.

    PubMed

    Park, Jin-Wan; Kim, Su-Mi; Yu, Gyu-Bong; Kang, Yun-Dan

    2016-09-01

    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

  7. Shape-based diagnosis of the aortic valve

    NASA Astrophysics Data System (ADS)

    Ionasec, Razvan Ioan; Tsymbal, Alexey; Vitanovski, Dime; Georgescu, Bogdan; Zhou, S. Kevin; Navab, Nassir; Comaniciu, Dorin

    2009-02-01

    Disorders of the aortic valve represent a common cardiovascular disease and an important public-health problem worldwide. Pathological valves are currently determined from 2D images through elaborate qualitative evalu- ations and complex measurements, potentially inaccurate and tedious to acquire. This paper presents a novel diagnostic method, which identies diseased valves based on 3D geometrical models constructed from volumetric data. A parametric model, which includes relevant anatomic landmarks as well as the aortic root and lea ets, represents the morphology of the aortic valve. Recently developed robust segmentation methods are applied to estimate the patient specic model parameters from end-diastolic cardiac CT volumes. A discriminative distance function, learned from equivalence constraints in the product space of shape coordinates, determines the corresponding pathology class based on the shape information encoded by the model. Experiments on a heterogeneous set of 63 patients aected by various diseases demonstrated the performance of our method with 94% correctly classied valves.

  8. Aortic elastic properties in athletes using anabolic-androgenic steroids.

    PubMed

    Kasikcioglu, Erdem; Oflaz, Huseyin; Arslan, Armagan; Topcu, Berrin; Kasikcioglu, Hulya A; Umman, Berrin; Bugra, Zehra; Kayserilioglu, Abidin

    2007-01-01

    The use of anabolic-androgenic steroids (AAS) has been linked to acute cardiovascular events in athletes. The purpose of the present study was to investigate the aortic elastic properties in athletes who had been self-administering AAS compared with a group of athletes not using these drugs. Fourteen male bodybuilders using AAS and 27 male wrestlers (non-users) volunteered to the study. All subjects were placed in a mild recumbent position and the ascending aorta was recorded in the two-dimensional guided M-mode tracings. Although the aortic distensibility was found to be reduced in user athletes (2.1+/-1.1 vs. 3.8+/-1.4 cm(2) dyn(-1) 10(-6), p=0.01; 9.3+/-3.7 vs. 5.9+/-2.5, p=0.003, respectively). The results of this study indicate that aortic stiffness is increasing in athletes using AAS.

  9. [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.

  10. 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 Central

    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.” PMID:26131037

  11. Subcutaneous fistulae in a patient with femoral hypoplasia due to Actinomyces europaeus and Actinomyces turicensis.

    PubMed

    Zautner, A E; Schmitz, S; Aepinus, C; Schmialek, A; Podbielski, A

    2009-06-01

    Infections due to Actinomyces europaeus or Actinomyces turicensis have only rarely been reported. We describe a case of chronic fistulae caused by a coinfection with A. europaeus and A. turicensis in an immunocompetent male patient with a severe congenital femur hypoplasia. Actinomycosis is most probably the consequence of a postoperative wound infection after a prior surgical intervention. Both Actinomyces species were identified by 16S rRNA gene sequencing. The Actinomyces-caused fistulae were treated by excision and a 1-week course of i.v. vancomycin followed by a 1-week course of p.o. cefuroxime.

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

    PubMed

    Armién, A G; McRuer, D L; Ruder, M G; Wünschmann, A

    2013-01-01

    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 foliation. Heterotopic neurons were identified as immature Purkinje cells by their size, location, immunoreactivity for calbindin D-28 K, and ultrastructural features. The authors suggest that this cerebellar abnormality was likely due to a disruption of molecular mechanisms that dictate Purkinje cell migration, placement, and maturation in early embryonic development. The etiology of this condition remains undetermined. Congenital central nervous system disorders have rarely been reported in birds.

  13. Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

    PubMed

    Braegger, C; Bottani, A; Hallé, F; Giedion, A; Leumann, E; Seger, R; Willi, U; Schinzel, A

    1991-01-01

    We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorchidism, bilateral partial cutaneous syndactyly between fingers 2 to 5 and toes 2 to 4, postaxial polydactyly of the fingers and toes, severe conductive hearing loss, hypoplasia of the ischiadic bones, complex renal dysfunction, hypogammaglobulinaemia with proneness to bacterial infections of the upper and lower respiratory tract, and recurrent pseudomembranous enterocolitis. The parents are cousins of Turkish origin.

  14. Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome.

    PubMed

    Moss, Robert A

    2013-01-01

    There is a growing body of literature describing cases of cognitive impairment associated with both acquired and developmental damage to the cerebellum. The current case study describes such a case involving a 17-year-old male with cerebellar hypoplasia, having incomplete formation of the vermis and atrophy of the interior cerebellar hemispheres. He had previously been diagnosed as having Asperger's Syndrome. A full neuropsychological evaluation was performed, including effort testing. This is followed by a comparison of the current results to previously reported cases, with a discussion of the heterogeneity of deficits associated with developmental cerebellum malformation.

  15. An Incidentally Discovered Pedunculated Degenerative Cyst on the Aortic Valve.

    PubMed

    Thiagarajasubramanian, Ashwin K; Zalawadiya, Sandip K; Afonso, Luis C

    2015-11-01

    We report the case of a pedunculated cystic mass on the aortic valve discovered in a patient presenting for a routine echocardiogram. The highly mobile nature of the mass warranted prompt surgical removal to prevent cardioembolic complications. The mass was preoperatively thought to be a papillary fibroelastoma. However, the patient's history, mass morphology, and histopathology pointed toward a simple degenerative cyst--previously unreported on the aortic valve. This report describes this rare finding, discusses relevant differential diagnoses, and underscores the importance of surgical intervention in such cases. PMID:26522574

  16. Matrix Metalloproteinases and Descending Aortic Aneurysms: Parity, Disparity, and Switch

    PubMed Central

    Theruvath, Tom P.; Jones, Jeffrey A.; Ikonomidis, John S.

    2015-01-01

    Central to the pathologic changes in developing aortic aneurysms are alterations in the abundance and activity of proteases, of which the most important for aneurysm production comprise the matrix metalloproteinase (MMP) family. In this review, literature demonstrating the role of MMPs in the development of aortic aneurysms is presented, with emphasis on the parity and disparity between the thoracic and abdominal aorta. Furthermore, the role of embryologic cellular origins and evidence of phenotypic switch will be addressed in terms of how this process alters MMP production during aneurysm development. PMID:21958052

  17. [Atrial tachycardia ablated from the non-coronary aortic cusp].

    PubMed

    Baszko, Artur; Krzyzanowski, Krzysztof; Zinka, Elzbieta; Grajek, Stefan

    2007-02-01

    We present a case of a patient with drug resistant atrial tachycardia which was ablated from the noncoronary aortic cusp. Tachycardia was adenosine-sensitive and was characterized by a long RP' interval and low amplitude P waves (biphasic in II, III, aVF and V1-V2 leads, and positive in aVL). The earliest atrial activation during tachycardia was recorded at His region and from non-coronary aortic sinus of Valsalva. RF ablation at this area terminated tachycardia and did not impair atrio-ventricular conduction. PMID:17366369

  18. Chaotic musical murmur in aortic regurgitation.

    PubMed

    Miyahara, K; Amitani, S; Sohara, H; Kurose, M; Iwamura, H; Toyohira, H; Taira, A

    1996-12-01

    We report an interesting case of aortic regurgitation. Phonocardiographically, the shape of the diastolic musical murmur in this case changed in each cardiac cycle despite being in sinus rhythm, in the same posture and in the same breathing phase. Experimentally, we were able to obtain a similar noise pattern using an artificial respirator and a hemispherical silicone membrane. We concluded that the irregular and chaotic change in the shape of the diastolic musical murmur in the present case occurred due to irregular swaying of the non-coronary cusp under the influence of the Venturi effect owing to a regurgitant jet stream.

  19. 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. PMID:27393846

  20. 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

  1. Aortic and other arterial injuries.

    PubMed Central

    Hardy, J D; Raju, S; Neely, W A; Berry, D W

    1975-01-01

    Three hundred sixty arterial injuries in 353 patients are reviewed. They covered a wide spectrum of injuries and included 36 aortic injuries and 19 cases of carotid truama. The mortality rate of 12% was in large part due to aortic injuries. Shock was the predominant cause of death. Infection was the most frequent non-fatal complication. Pulmonary complications were surprisingly uncommon. With methods and techniques discussed in the paper, 90% satisfactory end results were achieved. The amputation rate was 6% where extremity injuries were involved. Images Fig. 11. Fig. 13. PMID:1130881

  2. [Quadricuspid Aortic Valve: Report of a Case].

    PubMed

    Ryugo, Masahiro; Takasaki, Taiichi

    2016-02-01

    A 69-year-old woman with general fatigue was admitted to our hospital for further examination of mediastinal lymph node swelling. Mediastinal lymph node sampling was planned. Preoperative transthoracic echocardiography revealed severe aortic regurgitation, and aortic valve replacement combined with mediastinal lymph node sampling was performed. Following lymph node sampling, the ascending aorta was opened, and the aortic valve was found to be quadricuspid. An accessory cusp was existed between the left coronary cusp and the non coronary cusp. Aortic valve replacement was successfully performed. A quadricuspid aortic valve is a very rare anomaly. PMID:27075156

  3. [Remote results of reimplantation of the aortic valve in patients with ascending aortic aneurysm accompanied by aortic insufficiency].

    PubMed

    Cherniavskiĭ, A M; Al'sov, S A; Sirota, D A; Khvan, D S; Liashenko, M M; Ponomarev, D N; Kadyrbaev, D Zh

    2015-01-01

    Valve-sparing operations on the aorta has recently been gaining ever increasing popularity due to more detailed study of physiology of the aortic root, as well as promising mid- and long-term results. The world practice uses various techniques making it possible to remove both ascending aortic aneurysm and aortic valve insufficiency. The authors herein describe and analyse their experience in performing reimplantation of the aortic valve in patients with ascending aortic aneurysm and concomitant aortic insufficiency. Specialists of the clinic of the Novosibirsk Scientific Research Institute for Circulatory Pathology during the period from 2003 to 2013 performed a total of 77 operations of reimplantation of the aortic valve in patients with ascending aortic aneurysm and pronounced aortic valve insufficiency. The majority of patients were men (57 males and 20 females), mean age 53.1±12.2 years (range 21-72). 80% of cases had NYHA functional class II-III circulatory insufficiency (degree 2.3±0.7). Preoperative examination revealed in the majority of patients (97.4%) moderate-to-severe aortic valve insufficiency and ascending aortic aneurysm. All patients underwent reimplantation of the aortic valve. The duration of artificial circulation amounted to 202.4±33 minutes, with the average time of aortic occlusion being 164±28 min. Accompanying procedures (annuloplasty of the mitral valve and/or coronary aortic bypass grafting) were performed in 12 (15.6%) cases. Additional plasty of valvular cusps was carried out in 9 (11.7%) patients, with rethoracotomy required in 5 (6.4%) cases due to haemorrhage. The average period of follow up amounted to 53.3±8.5 (3-115) months. During this time total survival amounted to 91%, with freedom from aortic valve prosthetic repair equalling 93%. The obtained findings suggest that aortic valve reimplantation into the prosthesis is a safe intervention and associated with a comparatively low level of operative lethality. Moderate aortic

  4. 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.

  5. Trends in pediatric ostomy surgery: intestinal diversion for necrotizing enterocolitis and biliary diversion for biliary hypoplasia syndromes.

    PubMed

    Bastawrous, A A; Torosian, M B; Statter, M B; Arensman, R M

    1995-11-01

    Ostomies are placed in children for different indications than in the older population. Many ostomies of childhood are placed because of congenital or neonatal problems that require temporary or long-term diversion to stabilize the neonatal patient. Necrotizing enterocolitis, the most common reason for placement of neonatal colostomies and ileostomies, is increasing in frequency as more prematurely born infants survive. Recently, there has been an increase in treatment of various biliary hypoplasia syndromes with biliary cutaneous diversion. Children with biliary hypoplasia syndromes are a challenging group of patients who frequently can be helped by ostomies. This article reviews current information on biliary cutaneous diversion for the biliary hypoplasia syndromes and intestinal diversion for necrotizing enterocolitis.

  6. Transfemoral Valve-in-Valve Transcatheter Aortic Valve Implantation (TAVI) in a Patient With Previous Endovascular Aortic Repair (EVAR).

    PubMed

    Ruparelia, Neil; Panoulas, Vasileios F; Frame, Angela; Nathan, Anthony W; Ariff, Ben; Jaffer, Usman; Sutaria, Nilesh; Chukwuemeka, Andrew; Mikhail, Ghada W; Malik, Iqbal S

    2016-07-01

    A 90-year-old man presented with increasing exertional breathlessness. He had previous implantation of a Perimount bioprosthetic aortic valve (Edwards Lifesciences) and coronary artery bypass graft surgery. Due to severe transvalvular bioprosthetic regurgitation with preserved left ventricular dimensions and ejection fraction, the heart team decided on valve-in- valve transcatheter aortic valve implantation via the transfemoral route in view of the patient's prohibitively high surgical and anesthetic risk. The patient had an uncomplicated recovery and was symptomatically much improved at 3-month follow-up. PMID:27342209

  7. 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.

  8. Spectrum of Aortic Valve Abnormalities Associated with Aortic Dilation Across Age Groups in Turner Syndrome

    PubMed Central

    Olivieri, Laura J.; Baba, Ridhwan Y.; Arai, Andrew E.; Bandettini, W. Patricia; Rosing, Douglas R.; Bakalov, Vladimir; Sachdev, Vandana; Bondy, Carolyn A.

    2014-01-01

    Background Congenital aortic valve fusion is associated with aortic dilation, aneurysm and rupture in girls and women with Turner syndrome (TS). Our objective was to characterize aortic valve structure in subjects with TS, and determine the prevalence of aortic dilation and valve dysfunction associated with different types of aortic valves. Methods and Results The aortic valve and thoracic aorta were characterized by cardiovascular magnetic resonance imaging in 208 subjects with TS in an IRB-approved natural history study. Echocardiography was used to measure peak velocities across the aortic valve, and the degree of aortic regurgitation. Four distinct valve morphologies were identified: tricuspid aortic valve (TAV) 64%(n=133), partially fused aortic valve (PF) 12%(n=25), bicuspid aortic valve (BAV) 23%(n=47), and unicuspid aortic valve (UAV) 1%(n=3). Age and body surface area (BSA) were similar in the 4 valve morphology groups. There was a significant trend, independent of age, towards larger BSA-indexed ascending aortic diameters (AADi) with increasing valve fusion. AADi were (mean +/− SD) 16.9 +/− 3.3 mm/m2, 18.3 +/− 3.3 mm/m2, and 19.8 +/− 3.9 mm/m2 (p<0.0001) for TAV, PF and BAV+UAV respectively. PF, BAV, and UAV were significantly associated with mild aortic regurgitation and elevated peak velocities across the aortic valve. Conclusions Aortic valve abnormalities in TS occur with a spectrum of severity, and are associated with aortic root dilation across age groups. Partial fusion of the aortic valve, traditionally regarded as an acquired valve problem, had an equal age distribution and was associated with an increased AADi. PMID:24084490

  9. Renal embolism as a primary manifestation of Streptococcus dysgalactiae subspecies equisimilis endocarditis in a patient with chronic aortic dissection.

    PubMed

    Ishimaru, Naoto; Kinami, Saori; Ohnishi, Hisashi; Takagi, Asuka; Kawamoto, Megumi; Doukuni, Ryota; Umezawa, Kanoko; Oozone, Sachiko; Yoshimura, Sho; Sakamoto, Susumu

    2015-06-01

    We report a case of renal embolism as an initial manifestation of Streptococcus dysgalactiae subspecies equisimilis (SDSE) endocarditis in a patient with chronic aortic dissection. A 37-year-old man who underwent total aortic arch replacement owing to aortic dissection, presented with a 3-h history of fever, chills, and acute right-sided flank pain. The endocarditis affected the native aortic valve and was complicated by a renal embolism. Blood culture results were positive for SDSE. Intravenous penicillin resulted in satisfactory clinical and echocardiographic recovery. PMID:26110298

  10. Coronary Obstruction Following Transcatheter Aortic Valve Implantation

    PubMed Central

    Ribeiro, Henrique Barbosa; Sarmento-Leite, Rogério; Siqueira, Dimytri A. A.; Carvalho, Luiz Antônio; Mangione, José Armando; Rodés-Cabau, Josep; Perin, Marco A.; de Brito, Fábio Sandoli

    2014-01-01

    Background Transcatheter aortic valve implantation (TAVI) was established as an important alternative for high-risk patients with severe aortic stenosis. However, there are few data in the literature regarding coronary obstruction, that although rare, is a potentially fatal complication. Objective Evaluate this complication in Brazil. Methods We evaluated all patients presenting coronary obstruction from the Brazilian Registry of TAVI. Main baseline and procedural characteristics, management of the complication, and clinical outcomes were collected from all patients. Results From 418 consecutive TAVI procedures, coronary obstruction occurred in 3 cases (incidence of 0.72%). All patients were women, without prior coronary artery bypass grafting (CABG), and with mean age of 85 ± 3 years, logistic EuroSCORE of 15 ± 6% and STS-PROM score of 9 ± 4%. All of the cases were performed with balloon-expandable Sapien XT prosthesis. In one patient, with pre-procedural computed tomography data, coronary arteries presented a low height and a narrow sinus of Valsalva. All patients presented with clinically significant severe maintained hypotension, immediately after valve implantation, and even though coronary angioplasty with stent implantation was successfully performed in all cases, patients died during hospitalization, being two periprocedurally. Conclusion Coronary obstruction following TAVI is a rare but potentially fatal complication, being more frequent in women and with the balloon-expandable prosthesis. Anatomical factors might be related with its increased occurrence, highlighting the importance of a good pre-procedural evaluation of the patients in order to avoid this severe complication. PMID:24652089

  11. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study

    PubMed Central

    2010-01-01

    Background To investigate aortic dimensions in women with Turner syndrome (TS) in relation to aortic valve morphology, blood pressure, karyotype, and clinical characteristics. Methods and results A cross sectional study of 102 women with TS (mean age 37.7; 18-62 years) examined by cardiovascular magnetic resonance (CMR- successful in 95), echocardiography, and 24-hour ambulatory blood pressure. Aortic diameters were measured by CMR at 8 positions along the thoracic aorta. Twenty-four healthy females were recruited as controls. In TS, aortic dilatation was present at one or more positions in 22 (23%). Aortic diameter in women with TS and bicuspid aortic valve was significantly larger than in TS with tricuspid valves in both the ascending (32.4 ± 6.7 vs. 26.0 ± 4.4 mm; p < 0.001) and descending (21.4 ± 3.5 vs. 18.8 ± 2.4 mm; p < 0.001) aorta. Aortic diameter correlated to age (R = 0.2 - 0.5; p < 0.01), blood pressure (R = 0.4; p < 0.05), a history of coarctation (R = 0.3; p = 0.01) and bicuspid aortic valve (R = 0.2-0.5; p < 0.05). Body surface area only correlated with descending aortic diameter (R = 0.23; p = 0.024). Conclusions Aortic dilatation was present in 23% of adult TS women, where aortic valve morphology, age and blood pressure were major determinants of the aortic diameter. PMID:20222980

  12. Deep gluteal grounding pad burn after abdominal aortic aneurysm repair.

    PubMed

    Sapienza, Paolo; Venturini, Luigi; Cigna, Emanuele; Sterpetti, Antonio V; Biacchi, Daniele; di Marzo, Luca

    2015-01-01

    Although skin burns at the site of grounding pad are a known risk of surgery, their exact incidence is unknown. We first report the case of a patient who presented a deep gluteal burn at the site of the grounding pad after an abdominal aortic aneurism repair, the etiology and the challenging treatment required to overcome this complication. PMID:26099000

  13. 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. PMID:26980403

  14. [Aortic thrombus and splenic infarcts indicating essential thrombocythemia].

    PubMed

    Bachmeyer, C; Elalamy, I

    2011-09-01

    Essential thrombocythemia is a myeloproliferative disorder responsible for both hemorrhagic and thrombotic complications mostly venous but also arterial, especially of the microcirculation. We report a 64-year-old female who presented with an aortic thrombus and splenic infarcts indicating essential thrombocythemia. Outcome was favourable with medical treatment combining low-molecular-weight heparin secondarily switched to warfarin, associated with aspirin and hydroxyurea.

  15. 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

  16. Management of Intra-Aortic Balloon Pump Rupture and Entrapment

    PubMed Central

    Bhamidipaty, Madhu; Mees, Barend; Wagner, Timothy

    2016-01-01

    While the intra-aortic balloon pump (IABP) itself has many useful and life-saving indications, it has a high complication rate, up to 30% in some studies. This report discusses the surgical removal and subsequent vascular repair in a patient with a ruptured and subsequently entrapped IABP and reviews the literature on the presentation and management of this rare but major complication.

  17. 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.

  18. [Late conversions following endoprosthetic repair of abdominal aortic aneurysms].

    PubMed

    Kalmykov, E L; Sadriev, O N

    2016-01-01

    Presented herein is a review of the literature concerning late open conversions after endoprosthetic repair of abdominal aortic aneurysms, followed by analyzing the data on frequency and terms of performing late conversions, indications, options of surgical technique, lethality, and remote results. PMID:27626267

  19. Proximal clamping levels in abdominal aortic aneurysm surgery.

    PubMed Central

    Büket, S; Atay, Y; Islamoğlu, F; Yağdi, T; Posacioğlu, H; Alat, I; Cikirikçioğlu, M; Yüksel, M; Durmaz, I

    1999-01-01

    In the surgical treatment of abdominal aortic aneurysm, the single proximal cross-clamp can be placed at 3 alternative aortic levels: infrarenal, hiatal, and thoracic. We performed this retrospective study to evaluate the advantages and disadvantages of the 3 main aortic clamping locations. Eighty patients presented at our institution with abdominal aortic aneurysms from March 1993 through May 1998. Fifty of these patients had intact aneurysms and underwent elective surgery, and 30 had ruptured aneurysms that necessitated emergency surgery. Proximal aortic clamping was applied at the infrarenal level in 24 patients (22 from the intact aneurysm group, 2 from the ruptured group), at the hiatal level in 34 patients (22 intact, 12 ruptured), and at the thoracic level (descending aorta) via a limited left lateral thoracotomy in 22 patients (6 intact, 16 ruptured). Early mortality rates (within 30 days) were 4% (2 of 50 patients) among patients with intact aneurysms and 40% (12 of 30 patients) among those with ruptured aneurysms. In the 2 patients from the intact aneurysm group, proximal aortic clamps were applied at the hiatal level. In the ruptured aneurysm group, proximal aortic clamps were placed at the thoracic level in 10 patients, the infrarenal level in 1, and the hiatal level in 1. According to our study, the clinical status of the patient and the degree of operative urgency--as determined by the extent of the aneurysm--generally dictate the proximal clamp location. Patients who present with aneurysmal rupture or hypovolemic shock benefit from thoracic clamping, because it restores the blood pressure and allows time to replace the volume deficit. Infrarenal placement is advantageous in patients with intact aneurysms if there is sufficient space for the clamp between the renal arteries and the aortic aneurysm. In patients with juxtarenal aneurysms, hiatal clamping enables safe and easy anastomosis to the healthy aorta. Clamping at this level also helps prevent

  20. Lhx4 Deficiency: Increased Cyclin-Dependent Kinase Inhibitor Expression and Pituitary Hypoplasia

    PubMed Central

    Gergics, Peter; Brinkmeier, Michelle L.

    2015-01-01

    Defects in the Lhx4, Lhx3, and Pitx2 genes can cause combined pituitary hormone deficiency and pituitary hypoplasia in both humans and mice. Not much is known about the mechanism underlying hypoplasia in these mutants beyond generally increased cell death and poorly maintained proliferation. We identified both common and unique abnormalities in developmental regulation of key cell cycle regulator gene expression in each of these three mutants. All three mutants exhibit reduced expression of the proliferative marker Ki67 and the transitional marker p57. We discovered that expression of the cyclin-dependent kinase inhibitor 1a (Cdkn1a or p21) is expanded dorsally in the pituitary primordium of both Lhx3 and Lhx4 mutants. Uniquely, Lhx4 mutants exhibit reduced cyclin D1 expression and have auxiliary pouch-like structures. We show evidence for indirect and direct effects of LHX4 on p21 expression in αT3-1 pituitary cells. In summary, Lhx4 is necessary for efficient pituitary progenitor cell proliferation and restriction of p21 expression. PMID:25668206

  1. Portal hypertension associated with primary hypoplasia of the hepatic portal vein in dogs.

    PubMed

    Van den Ingh, T S; Rothuizen, J; Meyer, H P

    1995-10-21

    Portal hypertension caused by primary hypoplasia of the portal vein was diagnosed in 42 dogs. The portal hypertension was manifested by the presence of multiple portosystemic collateral vessels. The main clinical signs were retarded growth or weight loss, apathy, intermittent diarrhoea and vomiting, anorexia, abdominal distension and polydipsia. Major findings at physical examination were ascites in 23 dogs and neurological signs in 16 dogs. The dogs had increased activities of liver enzymes in plasma and increased fasting levels of total bile acids and ammonia; in many of the dogs the packed red cell volume, total serum protein and albumin were low. Gross inspection of the portal vein revealed a patent but underdeveloped extrahepatic vein in 13 of the dogs. Microscopic examination of the liver revealed hypoplasia of the intrahepatic portal veins in all the dogs, and this was associated with minor arteriolar proliferation and absence of fibrosis in 12 of them, with moderate to marked arteriolar proliferation often combined with ductular proliferation in 13, and with marked portal fibrosis (formerly described as hepatoportal fibrosis) with a varying number of arteriolar and bile ductular structures in 17 of the dogs. The disease affected mainly young dogs, and was most likely to have been of congenital origin. PMID:8560700

  2. Congenital hydranencephaly and cerebellar hypoplasia in water buffalo in southern Brazil.

    PubMed

    Schild, Ana Lucia; Fiss, Letícia; Damé, Maria C; Uzal, Francisco A; Soares, Mauro P; Schuch, Luiz F; Flores, Eduardo F; Riet-Correa, Franklin

    2011-05-01

    Seven cases of hydranencephaly and cerebellar hypoplasia in a water buffalo herd are described. The herd of 133 females was divided for mating into 4 groups and mated with different bulls. The disease was observed in the offspring of 5 cows from only 1 group over a period of 6 years. These cows had all mated with the same bull during that period. All affected calves were unable to suckle, showed intention tremors, involuntary movements of the ears, depression, and blindness. Some calves were recumbent and others showed wide-based stance and inability to walk. At necropsy, all affected calves had similar lesions consisting of hydranencephaly and cerebellar hypoplasia. Histologically, the cavities were surrounded by normal-looking nervous tissue. The occurrence of the disease in the offspring of only 1 out of 6 bulls in different years, the similar lesions in all 7 calves affected, and the negative serology and immunohistochemistry for Bovine virus diarrhea virus and Bluetongue virus highly suggest that the disease is hereditary.

  3. [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. PMID:26611428

  4. Viscous Energy Loss in the Presence of Abnormal Aortic Flow

    PubMed Central

    Barker, A.J.; van Ooij, P.; Bandi, K.; Garcia, J.; Albaghdadi, M.; McCarthy, P.; Bonow, R. O.; Carr, J.; Collins, J.; Malaisrie, C.; Markl, M.

    2014-01-01

    Purpose To present a theoretical basis for noninvasively characterizing in vivo fluid-mechanical energy losses, and to apply it in a pilot study of patients known to express abnormal aortic flow patterns. Methods 4D flow MRI was used to characterize laminar viscous energy losses in the aorta of normal controls (n=12, age=37±10), patients with aortic dilation (n=16, age=52±8), and patients with aortic valve stenosis matched for age and aortic size (n=14, age=46±15), using a relationship between the 3D velocity field and viscous energy dissipation. Results Viscous energy loss was significantly elevated in the thoracic aorta for patients with dilated aorta (3.6±1.3 mW, p=0.024) and patients with aortic stenosis (14.3±8.2 mW, p<0.001) compared to healthy volunteers (2.3±0.9 mW). The same pattern of significant differences were seen in the ascending aorta, where viscous energy losses in patients with dilated aortas (2.2±1.1 mW, p=0.021) and patients with aortic stenosis (10.9±6.8 mW, p<0.001) were elevated compared to healthy volunteers (1.2±0.6 mW). Conclusion This technique provides a capability to quantify the contribution of abnormal laminar blood flow to increased ventricular afterload. In this pilot study, viscous energy loss in patient cohorts was significantly elevated and indicates that cardiac afterload is increased due to abnormal flow. PMID:24122967

  5. Repair of Late Retrograde Type A Aortic Dissection After TEVAR: Causes and Management.

    PubMed

    Mosquera, Victor X; Marini, Milagros; Fraga-Manteiga, Daniel; Gulias, Daniel; Cuenca, Jose J

    2016-03-01

    One of the most feared complications of thoracic endovascular aortic repair (TEVAR) and hybrid arch repair is retrograde type A aortic dissection (RTAD). More than two-thirds of RTAD occurs in the immediate postoperative period and first postoperative month. In presentations beyond that point, progression of the native aortopathy must be considered. We report a late presentation of an RTAD seven months after hybrid repair of an aortic intramural hematoma with an ulcer-like projection, and review the causes and management of this TEVAR complication.

  6. Progressive supra-aortic stenosis in a young adult with the findings of Singleton Merten Syndrome

    PubMed Central

    Ozyuksel, Arda; Ersoy, Cihangir; Canturk, Emir; Akcevin, Atif

    2014-01-01

    Singleton Merten Syndrome is an autosomal dominant disorder of unknown origin. Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities. In this case, we present a young girl with a history of aortic root replacement, who had an unusual progressive supra-aortic stenosis managed with urgent surgery during the course of the syndrome. Cardiovascular involvement needs special attention, since it is the major cause of mortality along with rhythm disturbances in the course of Singleton Merten Syndrome. PMID:25193816

  7. Type F Congenital Quadricuspid Aortic Valve: A Very Rare Case Diagnosed by 3-dimenional Transoesophageal Echocardiography

    PubMed Central

    Garg, Pankaj; Kamaruddin, Hazlyna; Orme, Rachel; Watt, Victoria

    2014-01-01

    Congenital quadricuspid aortic valve (QAV) is a rare cardiac anomaly. Several different anatomical variations of a quadricuspid aortic valve have been described. Aortic regurgitation is the predominant valvular dysfunction associated with QAV and patients tend to present in their 5th or 6th decade of life. This anomaly is rarely picked up by transthoracic echocardiogram (TTE). A comprehensive transoesophageal echocardiography (TOE) study is more likely to diagnose it. We describe a very rare type of QAV – Type F in a 52-year-old lady who presented with symptoms of shortness of breath and pre-syncope. We include TOE images and intra-operative valve images. PMID:24707324

  8. 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.

  9. Accuracy of imaging parameters in the prediction of lethal pulmonary hypoplasia secondary to mid-trimester prelabor rupture of fetal membranes: a systematic review and meta-analysis.

    PubMed

    van Teeffelen, A S P; Van Der Heijden, J; Oei, S G; Porath, M M; Willekes, C; Opmeer, B; Mol, B W J

    2012-05-01

    In women who have suffered mid-trimester prelabor rupture of membranes (PPROM), prediction of pulmonary hypoplasia is important for optimal management. We performed a systematic review to assess the capacity of imaging parameters to predict pulmonary hypoplasia. We searched for published articles that reported on biometric parameters and allowed the construction of a 2 × 2 table, comparing at least one of these parameters with the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality and we calculated sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia. Overall performance was assessed by summary receiver-operating characteristics (sROC) analyses that were performed with bivariate meta-analysis. We detected 13 studies that reported on the prediction of lethal pulmonary hypoplasia. The quality of the included studies was poor to mediocre. The estimated sROC curves for the chest circumference/abdominal circumference ratio and other parameters showed limited accuracy in the prediction of pulmonary hypoplasia. In women with mid-trimester PPROM, the available evidence indicates limited accuracy of biometric parameters in the prediction of pulmonary hypoplasia.

  10. Vascular airway compression management in a case of aortic arch and descending thoracic aortic aneurysm

    PubMed Central

    Kumar, Alok; Dutta, Vikas; Negi, Sunder; Puri, G. D.

    2016-01-01

    Airway compression due to distal aortic arch and descending aortic aneurysm repair has been documented. This case of tracheal and left main stem bronchus compression due to aortic aneurysm occurred in a 42-year-old man. The airway compression poses a challenge for the anesthesiologist in airway management during aortic aneurysm repair surgery. The fiber-optic bronchoscope is very helpful in decision-making both preoperatively and postoperatively in such cases. We report a case of airway compression in a 42-year-old patient who underwent elective distal aortic arch and descending aortic aneurysm repair. PMID:27397474

  11. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    PubMed Central

    2012-01-01

    Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH). Methods Fourteen patients (12 females and two males; aged 16 months-14 years) presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14). Ten patients (8 girls and 2 boys) had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy), deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that these patients have a

  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. PMID:23831451

  13. Fundamental mechanics of aortic heart valve closure.

    PubMed

    Hose, David Rodney; Narracott, Andrew James; Penrose, Justin M T; Baguley, David; Jones, Ian P; Lawford, Patricia V

    2006-01-01

    Stresses in a prosthetic heart valve at closure are determined by its geometrical and structural characteristics, by the mechanical support environment, and by the momentum of the valve leaflets or occluder and of the blood at the instant of closure. The mass of blood to be arrested is significantly greater than that of the leaflets or occluder, and is therefore likely to dominate the closure impulse. The kinetic energy of the blood must be transduced into potential energy in the structural components (valve leaflets, aortic root and aorta). This paper presents a methodology for computation and parameterisation of the blood momentum associated with a valve in the aortic position. It is suggested that the influence of physiological parameters, such as systolic waveform and systemic impedance, on the closure characteristics can be investigated based on the fluid dynamic implications. Detailed results are presented for a single leaflet mechanical valve (Bjork-Shiley 60 degrees Convexo-Concave). It is demonstrated that a simple analytical method can yield results that might be adequate for the purposes of valve design.

  14. Decreased expression of fibulin-4 in aortic wall of aortic dissection.

    PubMed

    Huawei, P; Qian, C; Chuan, T; Lei, L; Laing, W; Wenlong, X; Wenzhi, L

    2014-02-01

    In this research, we will examine the expression of Fibulin-4 in aortic wall to find out its role in aortic dissection development. The samples of aortic wall were obtained from 10 patients operated for acute ascending aortic dissection and five patients for chronic ascending aortic dissection. Another 15 pieces of samples from patients who had coronary artery bypass were as controls. The aortic samples were stained with aldehyde magenta dyeing to evaluate the arrangement of elastic fibers. The Fibulin-4 protein and mRNA expression were both determined by Western blot and realtime quantitative polymerase chain reaction. Compared with the control group, both in acute and chronic ascending aortic dissection, elastic fiber fragments increased and the expression of fibulin-4 protein significantly decreased (P= 0.045 < 0.05). The level of fibulin-4 mRNA decreased in acute ascending aortic dissection (P= 0.034 < 0.05), while it increased in chronic ascending aortic dissection (P=0.004 < 0.05). The increased amounts of elastic fiber fragments were negatively correlated with the expression of fibulin-4 mRNA in acute ascending aortic dissection. In conclusion, in aortic wall of ascending aortic dissection, the expression of fibulin-4 protein decreased and the expression of fibulin-4 mRNA was abnormal. Fibulin-4 may play an important role in the pathogenesis of aortic dissection.

  15. Sudden death due to traumatic ascending aortic pseudoaneurysms ruptured into the esophagus: 2 case reports.

    PubMed

    He, Shixia; Chen, Xiaorui; Zhou, Xiaowei; Hu, Qingqing; Ananda, Sunnassee; Zhu, Shaohua

    2015-04-01

    We present 2 rare cases of patients with uncontrolled hemorrhagic shock induced by traumatic ascending aortic pseudoaneurysm rupture into the esophagus. Two men were presented to the hospital after traffic accidents. Their chest radiograph showed no obvious signs of aortic damage or aortic pseudoaneurysms but only a small amount of high-density shadow in the mediastinum and no specific clinical signs besides chest tightness or chest tenderness. The first case was misdiagnosed as pulmonary contusion and pleural effusion, and the second case was misdiagnosed as mediastinal lesions in the mediastina. They were given symptomatic and supportive treatment. Unfortunately, they died suddenly after >1 month of traumatic accident. At autopsy, ascending aortic pseudoaneurysms that broke into the esophagus and multiple organ hematocele were detected by gross examination. In histopathological examination, inflammatory cells and proliferated fibrous connective tissue were detected in the ascending aortic pseudoaneurysms, and the pathological gastrointestinal bleeding was not seen. The drugs and poisons were not found on toxicological analysis. The 2 patients died as a result of hemorrhagic shock from traumatic ascending aortic pseudoaneurysm rupture into the esophagus. We suggest that thoracic surgeon should be aware of the possibility of aortic injury after chest trauma to reduce misdiagnosis and prevent similar accidents.

  16. Decellularized aortic homografts for aortic valve and aorta ascendens replacement†

    PubMed Central

    Tudorache, Igor; Horke, Alexander; Cebotari, Serghei; Sarikouch, Samir; Boethig, Dietmar; Breymann, Thomas; Beerbaum, Philipp; Bertram, Harald; Westhoff-Bleck, Mechthild; Theodoridis, Karolina; Bobylev, Dmitry; Cheptanaru, Eduard; Ciubotaru, Anatol; Haverich, Axel

    2016-01-01

    OBJECTIVES The choice of valve prosthesis for aortic valve replacement (AVR) in young patients is challenging. Decellularized pulmonary homografts (DPHs) have shown excellent results in pulmonary position. Here, we report our early clinical results using decellularized aortic valve homografts (DAHs) for AVR in children and mainly young adults. METHODS This prospective observational study included all 69 patients (44 males) operated from February 2008 to September 2015, with a mean age of 19.7 ± 14.6 years (range 0.2–65.3 years). In 18 patients, a long DAH was used for simultaneous replacement of a dilated ascending aorta as an extended aortic root replacement (EARR). Four patients received simultaneous pulmonary valve replacement with DPH. RESULTS Thirty-nine patients (57%) had a total of 62 previous operations. The mean aortic cross-clamp time in isolated cases was 129 ± 41 min. There was 1 conduit-unrelated death. The mean DAH diameter was 22.4 ± 3.7 mm (range, 10–29 mm), the average peak gradient was 14 ± 15 mmHg and the mean aortic regurgitation grade (0.5 = trace, 1 = mild) was 0.6 ± 0.5. The mean effective orifice area (EOA) of 25 mm diameter DAH was 3.07 ± 0.7 cm2. DAH annulus z-values were 1.1 ± 1.1 at implantation and 0.7 ± 1.3 at the last follow-up. The last mean left ventricle ejection fraction and left ventricle end diastolic volume index was 63 ± 7% and 78 ± 16 ml/m2 body surface area, respectively. To date, no dilatation has been observed at any level of the graft during follow-up; however, the observational time is short (140.4 years in total, mean 2.0 ± 1.8 years, maximum 7.6 years). One small DAH (10 mm at implantation) had to be explanted due to subvalvular stenosis and developing regurgitation after 4.5 years and was replaced with a 17 mm DAH without complication. No calcification of the explanted graft was noticed intraoperatively and after histological analysis, which revealed extensive recellularization without inflammation

  17. Subtle-discrete aortic dissection without bulging of the aortic wall. A rare but lethal lesion.

    PubMed

    Kalogerakos, Paris Dimitrios; Kampitakis, Emmanouil; Pavlopoulos, Dionisios; Chalkiadakis, George; Lazopoulos, George

    2016-08-01

    We report a subtle-discrete aortic dissection, without bulging of the aortic wall or aneurysm or valve pathology or periaortic effusion, which resulted in a lethal cardiac tamponade to a 35-year-old male. PMID:27357491

  18. First trans-subclavian transcatheter aortic valve replacement using Lotus valve system.

    PubMed

    Baştuğ, Serdal; Aslan, Abdullah Nabi; Sarı, Cenk; Süygün, Hakan; Bozkurt, Engin

    2016-09-01

    Transcatheter aortic valve implantation (TAVI), most commonly performed via retrograde femoral artery access, is a promising alternative to surgical aortic valve replacement in elderly, high-risk patients with severe aortic stenosis (AS). Approximately one-third of these patients suffer from severe iliofemoral arteriopathy, ruling out transfemoral approach. The case of a 74-year-old man with severe AS and bilateral iliofemoral arteriopathy treated with left trans-subclavian (TS) TAVI using the Lotus valve system is described in the present report. PMID:27665333

  19. Chimney and periscope technique for emergent treatment of spontaneous aortic rupture.

    PubMed

    Trellopoulos, George; Georgakarakos, Efstratios; Pelekas, Dimitrios; Papachristodoulou, Athanasia; Argyriou, Christos; Georgiadis, George S

    2014-07-01

    Aortic rupture comprises a potentially fatal condition necessitating emergent treatment. Endovascular sealing of the rupture site is often combined with the use of chimney- and periscope stent placement to preserve perfusion of aortic branches. We present a case of successful endovascular management of contained aortic rupture in a 78-year-old patient. The left brachial access facilitated stenting of the celiac and superior mesenteric arteries, whereas the left femoral route served stenting of the renal artery. One-month follow-up confirmed complete sealing, stent patency, and absence of endograft migration. The combined periscope and chimney technique is feasible and effective in the emergency setting. PMID:24517987

  20. Familial Aortic Coarctation: A Rare Cause of Refractory Hypertension in the Elderly

    PubMed Central

    Lara-Rojas, Carmen M.; Bernal-Lopez, M. Rosa; Lopez-Carmona, M. Dolores; Gomez-Huelgas, Ricardo

    2015-01-01

    Abstract 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. PMID:25634191

  1. Endovascular management of an acquired aortobronchial fistula following aortic bypass for coarctation.

    PubMed

    O'Sullivan, Katie E; Bolster, Ferdia; Lawler, Leo P; Hurley, John

    2014-01-01

    Aortobronchial fistula (ABF) in the setting of aortic coarctation repair is very rare but uniformly fatal if untreated. Endovascular stenting of the descending aorta is now the first-choice approach for ABF presenting with haemoptysis and offers a less-invasive technique with improved outcomes, compared with open repair. We report a case of late ABF occurring following bypass for aortic coarctation. Management focused on two key manoeuvres: use of a covered endovascular stent to occlude the aortic bypass thus controlling the fistula and dilatation and stenting of native coarctation.

  2. Endovascular stenting for type B dissection involving a right-sided aortic arch

    PubMed Central

    Croccia, Maria Grazia; Levantino, Maurizio; Cioni, Roberto; Bortolotti, Uberto

    2012-01-01

    Endovascular stent-graft repair is emerging as the treatment of choice for complicated type B aortic dissection. In this report we describe a patient who presented with type B aortic dissection involving a right-sided aortic arch (RAA), a rare congenital vascular anomaly. The initial aggressive medical treatment proved unsuccessful due to false aneurysm expansion. Given the greater complexity of conventional surgical repair and the limited experience with this rare malformation, endovascular repair was preferred and successfully performed. We report the first case of endovascular repair of type B dissection involving RAA, confirming that endovascular treatment is technically feasible also when the dissection involves this unusual vascular malformation. PMID:22561295

  3. Hemodynamic Influences on Abdominal Aortic Aneurysm Disease: Application of Biomechanics to Aneurysm Pathophysiology

    PubMed Central

    Dua, Monica M.; Dalman, Ronald L.

    2010-01-01

    “Atherosclerotic” abdominal aortic aneurysms (AAAs) occur with the greatest frequency in the distal aorta. The unique hemodynamic environment of this area predisposes it to site-specific degenerative changes. In this review, we summarize the differential hemodynamic influences present along the length of the abdominal aorta, and demonstrate how alterations in aortic flow and wall shear stress modify AAA progression in experimental models. Improved understanding of aortic hemodynamic risk profiles provides an opportunity to modify patient activity patterns to minimize risk of aneurysmal degeneration. PMID:20347049

  4. Retroperitoneal laparoscopic management of a lymphocele after abdominal aortic surgery: a case report.

    PubMed

    Uchinami, Masaru; Morioka, Koichi; Doi, Koji; Nakamura, Tomoaki; Yoshida, Makoto; Tanaka, Kuniyoshi

    2005-09-01

    A retroperitoneal lymphocele is a rare complication of abdominal aortic surgery. We present a case of 77-year-old man who developed a retroperitoneal lymphocele 14 days after undergoing graft replacement for an abdominal aortic aneurysm. Paracentesis showed a white and turbid fluid that was determined to be chyle. Conservative therapy, including percutaneous drainage, fasting, and total parenteral nutrition, was unsuccessful. Retroperitoneal laparoscopic ligation of the leaking lymphatics was performed on postoperative day 33. The postoperative course was satisfactory. The laparoscopic approach to retroperitoneal lymphocele treatment after abdominal aortic repair is a safe and minimally invasive therapeutic method.

  5. High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia

    PubMed Central

    Pilat, Anastasia; Sibley, Daniel; McLean, Rebecca J.; Proudlock, Frank A.; Gottlob, Irene

    2015-01-01

    Purpose To investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT). Design Prospective, cross-sectional, observational study. Subjects A total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-matched healthy controls. Methods High-resolution SD OCT (Copernicus [Optopol Technology S.A., Zawiercie, Poland], 3 μm resolution) and handheld SD OCT (Bioptigen Inc [Research Triangle Park, NC], 2.6 μm resolution) devices were used to acquire horizontal scans through the center of the optic disc and macula. Main Outcome Measures Horizontal optic disc/cup and rim diameters, cup depth, peripapillary retinal nerve fiber layer (RNFL), and thickness of individual retinal layers in participants with ONH and in controls. Results Patients with ONH had significantly smaller discs (P < 0.03 and P < 0.001 compared with unaffected eye and healthy controls, respectively), horizontal cup diameter (P < 0.02 for both), and cup depth (P < 0.02 and P < 0.01, respectively). In the macula, significantly thinner RNFL (nasally), ganglion cell layer (GCL) (nasally and temporally), inner plexiform layer (IPL) (nasally), outer nuclear layer (ONL) (nasally), and inner segment (centrally and temporally) were found in patients with ONH compared with the control group (P < 0.05 for all comparisons). Continuation of significantly thicker GCL, IPL, and outer plexiform layer in the central retinal area (i.e., foveal hypoplasia) was found in more than 80% of patients with ONH. Clinically unaffected fellow eyes of patients with ONH showed mild features of underdevelopment. Visual acuity and presence of septo-optic dysplasia were associated with changes in GCL and IPL. Sensitivity and specificity for the detection of ONH based on disc and retinal optical coherence tomography (OCT) parameters were >80

  6. Spring retractor: a new adjunct for aortic valve surgery.

    PubMed

    Izzat, Mohammad Bashar

    2011-07-01

    We describe a new aortic retractor that is effective in maintaining aortic root geometry and providing for adequate intraoperative visual valve assessment, and therefore enables the surgeon to perform precise aortic valve repair or replacement procedures.

  7. Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish water dog.

    PubMed

    Cosgrove, Laura; Hammond, Gawain; Mclauchlan, Gerard

    2015-11-01

    This report describes a Spanish water dog with an ammonium urate urethrolith which was diagnosed with primary portal vein hypoplasia and was found to be homozygous for the mutated SLC2A9 gene. This is the first Spanish water dog described with the SLC2A9 mutation and the first case of concurrent portal vascular abnormalities and SLC2A9 mutation.

  8. Type B Aortic Dissection Repair Using a Thoraflex Hybrid Prosthesis in a Complex Aortic Arch Anatomy

    PubMed Central

    Ghanem, Moussa Abi; Gomez-Sanchez, Mario; Chaufour, Xavier; Marcheix, Bertrand

    2016-01-01

    Thoracic endovascular aortic repair (TEVAR) is recognized as an attractive option to treat complicated Type B aortic dissection. Nevertheless, TEVAR is not always technically possible. We report the case of a 53-year-old male with complicated Type B aortic dissection, in the setting of a complex anomalous aortic arch anatomy with an aneurysmal aberrant right subclavian artery. He was successfully treated by the frozen elephant trunk technique using the Thoraflex hybrid graft.

  9. Assessment of aortic stenosis from the right parasternal view: when the answer is just on the opposite side.

    PubMed

    Corsi, Davide; Imperatori, Andrea; Fontana, Antonella; Russo, Pierluigi; Trocino, Giuseppe

    2013-01-01

    We present the case of a man with severe aortic stenosis in whom diagnosis was established by evaluating the transvalvular gradient from the right parasternal view, since classical measurements from the apical five-chamber view were discordant with the indexed aortic valve area obtained in the short-axis view.

  10. N(omega)-(carboxymethyl)lysine depositions in human aortic heart valves: similarities with atherosclerotic blood vessels.

    PubMed

    Baidoshvili, Alexi; Niessen, Hans W M; Stooker, Wim; Huybregts, Rien A J M; Hack, C Erik; Rauwerda, Jan A; Meijer, Chris J L M; Eijsman, Leon; van Hinsbergh, Victor W M; Schalkwijk, Casper G

    2004-06-01

    Recent studies indicate a role of atherosclerosis-like changes involved in the pathogenesis of aortic valve stenosis. Interestingly, one of the major advanced glycation end products (AGEs), N(omega)-(carboxymethyl)lysine (CML) has been related to the process of atherosclerosis in blood vessels. In the present study, we have analyzed the presence of CML in degenerative altered aortic valves with atherosclerosis-like changes, and in degenerated mitral valves without atherosclerosis-like changes, derived from patients suffering from acute rheumatism during childhood. Degenerated and non-degenerated valves were derived from autopsy or obtained during cardiac surgery. The presence of CML was examined by immunohistochemistry. CML was found on the endothelium and fibroblasts in control aortic and mitral valves. Minor differences in CML staining were observed between control and degeneratively affected mitral valves. In contrast, in degenerated aortic valves, CML accumulation was found in macrophages and on calcification sites, comparable to that in atherosclerotic arteries, while the presence of CML staining on the endothelium and fibroblasts was significantly less as compared with control aortic valves. Our data support the hypothesis that the process of degeneration of aortic valves resembles that of atherosclerosis in blood vessels. They suggest that CML also plays a role in the process of atherosclerosis in aortic valves.

  11. Complete graft dehiscence 8 months after repair of acute type A aortic dissection

    PubMed Central

    Gebhard, Cathérine; Biaggi, Patric; Stähli, Barbara E; Schwarz, Urs; Felix, Christian

    2013-01-01

    Acute type A aortic dissection is a dreaded differential diagnosis of acute chest pain. Long-term outcome mainly depends on pre-existing comorbidities and post-operative complications. We present a patient with aortic graft dehiscence and subsequent severe aortic regurgitation due to fungal graft infection 8 months after repair of acute type A aortic dissection. Redo aortic surgery had to be delayed for 28 days due to intracerebral haemorrhage caused by septic embolism and clipping of a mycotic left middle cerebral artery aneurysm. Surgery revealed a circumferentially detached graft at the site of the proximal anastomosis thereby forming a massive pseudoaneurysm. The patient underwent successful aortic root replacement using a Freestyle porcine root bioprosthesis (25 mm), followed by re-anastomosis of the coronary arteries and partial replacement of the ascending aorta with a 28 mm Dacron graft. The patient was discharged on day 67 in stable cardiac condition with persistent neurological deficits. This case highlights the challenging management of patients with aortic graft infection and neurological dysfunction after redissection of the ascending aorta who require redo cardiac surgery. PMID:24062936

  12. Transcatheter aortic valve implantation in Jehovah's Witness patients with symptomatic severe aortic valve stenosis

    PubMed Central

    Buz, Semih; Pasic, Miralem; Unbehaun, Axel; Hetzer, Roland

    2012-01-01

    Transcatheter aortic valve implantation (TAVI) is currently reserved for high or prohibitive surgical-risk patients with aortic valve stenosis. We report on successful TAVI in two Jehovah's witness patients. It offers a simple and effective treatment of severe aortic valve stenosis in high-risk patients who refuse the use of allogeneic blood and blood products. PMID:22753437

  13. Cervical aortic arch and a new type of double aortic arch. Report of a case.

    PubMed Central

    Cornali, M; Reginato, E; Azzolina, G

    1976-01-01

    A case of cervical aortic arch is reported. To the best of our knowledge, it is the first to be associated with a serious intracardiac anomaly. In addition, it is part of a new type of double aortic arch, caused by failure of reabsorption of both dorsal aortic roots and persistence of the fourth right and second (or third) left branchial arches. PMID:971387

  14. Aortic Valve Surgery: Minimally Invasive Options

    PubMed Central

    Ramlawi, Basel; Bedeir, Kareem; Lamelas, Joseph

    2016-01-01

    Minimally invasive aortic valve surgery has not been adopted by a significant proportion of cardiac surgeons despite proven benefits. This may be related to a high learning curve and technical issues requiring retraining. In this review, we discuss the data for minimally invasive aortic valve surgery and describe our operative technique for both ministernotomy and anterior thoracotomy approaches. We also discuss the advent of novel sutureless valves and how these techniques compare to available transcatheter aortic valve procedures. PMID:27127559

  15. Enamel hypoplasia and age at weaning in 19th-century Florence, Italy.

    PubMed

    Moggi-Cecchi, J; Pacciani, E; Pinto-Cisternas, J

    1994-03-01

    A sample representing a population of the Florence district of middle 19th century was studied to determine the age of occurrence of enamel hypoplasias. The age interval most affected was that between 1.5 and 3.5 years. Historical sources on weaning habits of 19th-century Italian populations indicate a weaning period between 12 and 18 months. This is in agreement with the data on enamel defects, showing that children of post-weaning age are more subject to stress. Wide "grooves", with prolonged duration, are concentrated between 2 and 2.5 years, whereas "lines" occur primarily between 2.5 and 3 years. We suggest that this distribution could reflect the gradual introduction of dietary supplements until weaning is complete. PMID:8042693

  16. Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.

    PubMed

    Patel, H; Tze, W J; Crichton, J U; McCormick, A Q; Robinson, G C; Dolman, C L

    1975-02-01

    Four children had optic nerve hypoplasia with hypopituitarism, and their clinical picture varied with age. The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice. The young infant had defective vision, behavioral delay, hypotonia, and seizures. Except for a mildly receding lower jaw and a high-arched palate, the appearance of the patients was not unusual. The fasting blood glucose level was mildly depressed. In two cases the liver was palpable and results of liver function tests were abnormal. The older child, who was blind and mentally retarded, had growth failure. The extent of the pituitary hormone deficiencies was variable, including diabetes insipidus. The septum pellucidum was not invariably absent. Clinical and pathological findings indicate that the brain lesion might be more diffuse than hitherto recognized. Early recognition of this syndrome and timely intervention might diminish serious sequels. PMID:1119454

  17. 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.

  18. Sudden death in infancy due to bicuspid aortic valve.

    PubMed

    Karayel, Ferah; Ozaslan, Abdi; Turan, Arzu Akcay; Pakis, Isil; Ketenci, Cetin; Eroglu, Ayse Guler

    2006-09-01

    Symptoms of bicuspid aortic valve usually occur in the age group of 50-70 years, but rarely, it can also lead to sudden unexpected death in infancy and early childhood. The autopsy of a 2-month-old baby boy, found dead in his cot, revealed the heart weight as 25 g, and the macroscopic examination showed the circumference of the aortic valve consisting of two leaflets as 8 mm. The thickness of the left ventricle, right ventricle, and septum was measured as 8, 7, and 10 mm, respectively. Microscopically, the heart revealed hypertrophic changes of myocytes. Subendocardial areas displayed necrosis of myocytes, and severe and diffuse ischemic changes characterized by loss of myofibers and vacuolization. Interstitial pneumonia was identified in the lungs. Death occurred as a result of a congenital bicuspid aortic valve obstructing the left ventricular outflow tract complicated by lung infection. As there are only a few reported cases in infancy, and congenital bicuspid aortic valve can lead to sudden unexpected death, this case is presented to the forensic community.

  19. 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.

  20. Aortic root dilatation in young men with normally functioning bicuspid aortic valves

    PubMed Central

    Nistri, S; Sorbo, M; Marin, M; Palisi, M; Scognamiglio, R; Thiene, G

    1999-01-01

    OBJECTIVE—To evaluate the dimensions of the aortic root in a selected population of young males with isolated normally functioning bicuspid aortic valve.
DESIGN AND SETTING—Echocardiographic and Doppler evaluation of conscripts with bicuspid aortic valve at the time of military pre-enrolment screening in two military hospitals.
SUBJECTS AND METHODS—66 consecutive young men with a normally functioning bicuspid aortic valve were studied to assess aortic size at four aortic levels: annulus, sinuses of Valsalva, supra-aortic ridge, and proximal ascending aorta; 70 consecutive normal young subjects, matched for age and body surface area, were used as controls.
RESULTS—In men with a bicuspid aortic valve, the diameter of the aortic root was significantly larger than in controls at the sinuses (3.16 (0.37) v 2.87 (0.31) cm, p < 0.001), at the supra-aortic ridge (2.64 (0.46) v 2.47 (0.28) cm, p = 0.01), and at the level of the proximal ascending aorta (3.12 (0.48) v 2.69 (0.28) cm, p < 0.001). The prevalence of aortic root dilatation was 7.5% at the annulus (5/66), 19.6% at the sinuses (13/66), 15% at the supra-aortic ridge (10/66), and 43.9% at the ascending aorta (29/66); 32 subjects (48%) had aortic root dimensions comparable with controls, while 34 (52%) had definitely abnormal aortic root dimensions.
CONCLUSIONS—Aortic root enlargement in people with a bicuspid aortic valve occurs independently of haemodynamic abnormalities, age, and body size. However, there appear to be different subgroups of young adults with bicuspid aortic valves, one of which is characterised by aortic dilatation, possibly caused by a congenital abnormality of the aortic wall.


Keywords: bicuspid aortic valve; aortic root dilatation PMID:10377302

  1. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    SciTech Connect

    Bruckheimer, Elchanan Dagan, Tamir; Atar, Eli; Schwartz, Michael; Kachko, Ludmila; Superina, Riccardo; Amir, Gabriel; Shapiro, Rivka; Birk, Einat

    2013-12-15

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by {approx}50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5-13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2-8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 {+-} 11.3 to 10.8 {+-} 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 {+-} 0.5 to 4.0 {+-} 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 {+-} 53.6 to 65.7 {+-} 9.6 {mu}mol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia.

  2. The Placental Distal Villous Hypoplasia Pattern: Interobserver Agreement and Automated Fractal Dimension as an Objective Metric.

    PubMed

    Mukherjee, Anika; Chan, Adrian D C; Keating, Sarah; Redline, Raymond W; Fritsch, Michael K; Machin, Geoffrey A; Cornejo-Palma, Daniel; de Nanassy, Joseph; El-Demellawy, Dina; von Dadelszen, Peter; Benton, Samantha J; Grynspan, David

    2016-01-01

    The distal villous hypoplasia (DVH) pattern is a placental correlate of fetal growth restriction. Because the pattern seems to involve less complexity than do appropriately developed placental villi, we postulated that it may be associated with lower fractal dimension-a mathematical measure of complexity. Our study objectives were to evaluate interobserver agreement related to the DVH pattern among expert pathologists and to determine whether pathologist classification of DVH correlates with fractal dimension. A study set of 30 images of placental parenchyma at ×4 magnification was created by a single pathologist from a digital slide archive. The images were graded for the DVH pattern according to pre-specified definitions and included 10 images graded as "no DVH" (grade  =  0), 10 with mild to moderate DVH (grade  =  1), and 10 with severe DVH (grade  =  2). The images were randomly sorted and shown to a panel of 4 international experts who similarly graded the images for DVH. Weighted kappas were calculated. For each image, fractal dimension was calculated by the Box Counting method. The correlation coefficient between (1) the averaged DVH scores obtained by the 5 pathologists and (2) fractal dimension was calculated. The mean weighted kappa score among the observers was 0.59 (range: 0.42-0.70). The correlation coefficient between fractal dimension and the averaged DVH score was -0.915 (P < 0.001). Expert pathologists achieve fair to substantial agreement in grading DVH, indicating consensus on the definition of DVH. Distal villous hypoplasia correlates extremely well with fractal dimension and represents an objective measure for DVH.

  3. Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

    PubMed Central

    Garcia-Filion, Pamela; Borchert, Mark

    2013-01-01

    Opinion statement Background Optic nerve hypoplasia (ONH) has developed into a leading cause of congenital blindness. The frequently associated features of hypopituitarism and absent septum pellucidum were felt to have embryonic linkage as “septo-optic dysplasia” or “de Morsier’s syndrome.” More recent studies have suggested these associations are independent of one another. This review provides an assessment of the historical and recent evidence linking neuroradiologic, endocrinologic and developmental morbidity in patients with ONH. The prenatal risk factors, heritability, and genetic mutations associated with ONH are described. Results Recognition of the critical association of ONH with hypopituitarism should be attributed to William Hoyt, not Georges de Morsier. De Morsier never described a case of ONH or recognized its association with hypopituitarism or missing septum pellucidum. Hypopituitarism is caused by hypothalamic dysfunction. This, and other more recently identified associations with ONH, such as developmental delay and autism, are independent of septum pellucidum development. Other common neuroradiographic associations such as corpus callosum hypoplasia, gyrus dysplasia, and cortical heterotopia may have prognostic significance. The predominant prenatal risk factors for ONH are primiparity and young maternal age. Presumed risk factors such as prenatal exposure to drugs and alcohol are not supported by scrutiny of the literature. Heritability and identified gene mutations in cases of ONH are rare. Conclusion Children with ONH require monitoring for many systemic, developmental, and even life-threatening problems independent of the severity of ONH and presence of brain malformations including abnormalities of the septum pellucidum. “Septo-optic dysplasia” and “de Morsier’s syndrome” are historically inaccurate and clinically misleading terms. PMID:23233151

  4. Quantification of biomechanical interaction of transcatheter aortic valve stent deployed in porcine and ovine hearts.

    PubMed

    Mummert, Joseph; Sirois, Eric; Sun, Wei

    2013-03-01

    Success of the deployment and function in transcatheter aortic valve replacement is heavily reliant on the tissue-stent interaction. The present study quantified important tissue-stent contact variables of self-expanding transcatheter aortic valve stents when deployed into ovine and porcine aortic roots, such as the stent radial expansion force, stent pullout force, the annulus deformation response and the coefficient of friction on the tissue-stent contact interface. Braided Nitinol stents were developed, tested to determine stent crimped diameter vs. stent radial force from a stent crimp experiment, and deployed in vitro to quantify stent pullout, aortic annulus deformation, and the coefficient of friction between the stent and the aortic tissue from an aortic root-stent interaction experiment. The results indicated that when crimped at body temperature from 26 mm to 19, 21 and 23 mm stent radial forces were approximately 30-40% higher than those crimped at room temperature. Coefficients of friction leveled to approximately 0.10 ± 0.01 as stent wire diameter increased and annulus size decreased from 23 to 19 mm. Regardless of aortic annulus size and species tested, it appeared that a minimum of about 2.5 mm in annular dilatation, caused by about 60 N of radial force from stent expansion, was needed to anchor the stent against a pullout into the left ventricle. The study of the contact biomechanics in animal aortic tissues may help us better understand characteristics of tissue-stent interactions and quantify the baseline responses of non-calcified aortic tissues.

  5. 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.

  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. Low-gradient aortic stenosis.

    PubMed

    Clavel, Marie-Annick; Magne, Julien; Pibarot, Philippe

    2016-09-01

    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.

  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. Thoracic Endovascular Aortic Repair in a Patient with Mobile Aortic Thrombosis

    PubMed Central

    Lohrmann, Graham M.; Peters, Ferande

    2014-01-01

    A 58-year-old female presented with acute arterial insufficiency to her left leg. Following cardiovascular evaluation using multimodality imaging, it was discovered that she had mobile thoracic thrombi overlying a normal descending thoracic aorta which had also caused a splenic infarction. This patient was treated with unfractionated heparin for three days and underwent subsequent thoracic endovascular aortic repair (TEVAR) uneventfully with no subsequent complications at one-year followup. This case highlights the diagnostic and therapeutic challenges in treating patients with this uncommon challenging clinical scenario. PMID:24716094

  10. Endovascular Repair of a Traumatic Thoracic Aortic Injury Resulting in Late Aortic Dilatation

    PubMed Central

    Ozaki, Kumi; Matsui, Osamu; Ohtake, Hiroshi; Watanabe, Go; anada, Junichiro

    2013-01-01

    We present an unusual complication following endovascular repair of traumatic thoracic aortic injury using a homemade stent-graft. Although an initial technical success was apparently obtained, the aorta showed remarkable dilatation without shortening or migration of the stent skeleton in late follow-up period. The possible cause of the dilatation was considered to be the expansion and gathering of the crimped, loosely attached, graft fabric in addition to the incomplete exclusion due to the insufficient landing zone and the limited radial force. Thus, the specific feature of stent-graft, considered to provide an advantage to treatment, has adversely affected the native aorta. PMID:24436598

  11. Vertebral destruction due to abdominal aortic aneurysm

    PubMed Central

    Jiménez Viseu Pinheiro, J.F.; Blanco Blanco, J.F.; Pescador Hernández, D.; García García, F.J.

    2014-01-01

    Introduction Low back pain is a common cause of medical consultation, and usually supposes a non-malignant prognostic. Presentation of case We report an atypical appearance of low back pain associated to shock and pulsatile abdominal mass that made us diagnose an abdominal aortic aneurysm as reason of vertebral lysis and pain. Discusion Surgical repair of contained AAA should be directed to secondary re-rupture prevention, with an approximate survival near to 100% at selected patients for elective surgery. Consequently, orthopedic surgery for back spine stabilization has to be elective in those cases when vertebral destruction is above 30% and clinic is directly related to spine instability. Conclusion We should consider AAA as other cause of low back pain and routinely examine the abdomen and seek complementary imaging proves when risk factors for AAA are present. PMID:25569196

  12. Aortic root disease in athletes: aortic root dilation, anomalous coronary artery, bicuspid aortic valve, and Marfan's syndrome.

    PubMed

    Yim, Eugene Sun

    2013-08-01

    Two professional athletes in the U.S. National Basketball Association required surgery for aortic root dilation in 2012. These cases have attracted attention in sports medicine to the importance of aortic root disease in athletes. In addition to aortic root dilation, other forms of aortic disease include anomalous coronary artery, bicuspid aortic valve, and Marfan's syndrome. In this review, electronic database literature searches were performed using the terms "aortic root" and "athletes." The literature search produced 122 manuscripts. Of these, 22 were on aortic root dilation, 21 on anomalous coronary arteries, 12 on bicuspid aortic valves, and 8 on Marfan's syndrome. Aortic root dilation is a condition involving pathologic dilation of the aortic root, which can lead to life-threatening sequelae. Prevalence of the condition among athletes and higher risk athletes in particular sports needs to be better delineated. Normative parameters for aortic root diameter in the general population are proportionate to anthropomorphic variables, but this has not been validated for athletes at the extremes of anthropomorphic indices. Although echocardiography is the favored screening modality, computed tomography (CT) and cardiac magnetic resonance imaging (MRI) are also used for diagnosis and surgical planning. Medical management has utilized beta-blockers, with more recent use of angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), and statins. Indications for surgery are based on comorbidities, degree of dilation, and rate of progression. Management decisions for aortic root dilation in athletes are nuanced and will benefit from the development of evidence-based guidelines. Anomalous coronary artery is another form of aortic disease with relevance in athletes. Diagnosis has traditionally been through cardiac catheterization, but more recently has included evaluation with echocardiography, multislice CT, and MRI. Athletes with this

  13. A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.

    PubMed

    Melchionda, Laura; Damseh, Nadirah S; Abu Libdeh, Bassam Y; Nasca, Alessia; Elpeleg, Orly; Zanolini, Alice; Ghezzi, Daniele

    2014-01-01

    Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders, mainly associated with mutations in mitochondrial DNA MTCYB gene, encoding cytochrome b, or in assembly factor genes (BCS1L, TTC19, UQCC2, and LYRM7), whereas mutations in nuclear genes encoding cIII structural subunits are extremely infrequent. We report here a patient, a 9 year old female born from first cousin related parents, with normal development till 18 months when she showed unsteady gait with frequent falling down, cognitive, and speech worsening. Her course deteriorated progressively. Brain MRI showed cerebellar vermis hypoplasia and bilateral lentiform nucleus high signal lesions. Now she is bed ridden with tetraparesis and severely impaired cognitive and language functions. Biochemical analysis revealed isolated cIII deficiency in muscle, and impaired respiration in fibroblasts. We identified a novel homozygous rearrangement in TTC19 (c.213_229dup), resulting in frameshift with creation of a premature termination codon (p.Gln77Argfs*30). Western blot analysis demonstrated the absence of TTC19 protein in patient's fibroblasts, while Blue-Native Gel Electrophoresis analysis revealed the presence of cIII-specific assembly intermediates. Mutations in TTC19 have been rarely associated with mitochondrial disease to date, being described in about ten patients with heterogeneous clinical presentations, ranging from early onset encephalomyopathy to adult forms with cerebellar ataxia. Contrariwise, the biochemical defect was a common hallmark in TTC19 mutant patients, confirming the importance of TTC19 in cIII assembly/stability. Therefore, we suggest extending the TTC19 mutational screening to all patients with cIII deficiency, independently from their phenotypes. PMID:25452764

  14. Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome.

    PubMed

    Akın, Mustafa Ali; Güneş, Tamer; Akın, Leyla; Çoban, Dilek; Oncu, Sena Kara; Kiraz, Aslıhan; Kurtoğlu, Selim

    2011-01-01

    Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3(rd) week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report. PMID:21448332

  15. Cerebral cortical hypoplasia with abnormal morphology of pyramidal neuron in growth-retarded mouse (grt/grt).

    PubMed

    Horiuchi-Hirose, Miwa; Saito, Shigeyoshi; Sato, Chika; Aoyama, Junya; Kobayashi, Tetsuya; Sawada, Kazuhiko

    2014-01-01

    The purpose of this study was to quantitatively characterize structural abnormalities of the cerebrum in a growth-retarded mouse (grt/grt) with a tyrosylprotein sulfotransferase 2 gene defect. Three-dimensional computed tomography (CT) images were obtained from fixed brains of male homogenous grt/grt (n=5) and heterozygous grt/+ (n=5) mice at 15 weeks of age, and volumes of representative cerebral regions were calculated on the basis of those images. Following CT measurements, cryosections of the brain were made, and immunohistochemistry for NeuN and SMI-32 was carried out. By CT-based volumetry, region-specific reductions in volumes were marked in the cerebral cortex and white matter, but not in other cerebral regions of grt/grt. When quantitatively evaluating the shape of the cerebral cortex, the frontooccipital length of the cortex was significantly smaller in grt/grt than in grt/+, whereas the cortical width was not altered in grt/grt. On the other hand, both cortical thickness and density of NeuN-immunopositive neurons in three distinctive cortical regions, i.e., the primary motor cortex, barrel field of primary somatosensory cortex and primary visual cortex, were not different between grt/grt and grt/+. By semi-quantitative immunohistochemical analysis, the intensity of SMI-32 immunostaining was significantly weaker in grt/grt than in grt/+ in the three cortical areas examined. SMI-32 staining was reduced, particularly in layer III pyramidal neurons in grt/grt, while it was sustained in multipolar neurons. The present results suggest that cerebral abnormalities in grt/grt mice are characterized by cortical hypoplasia at the frontooccipital axis with immature pyramidal neurons and insufficient development of callosal fibers.

  16. Anesthetic management for resection of para-aortic paraganglioma and unexpected aortic resection: A case report

    PubMed Central

    WANG, CHERYL; RICHMOND, ROBERT; ELDESOUKI, ENAS

    2015-01-01

    Paragangliomas account for 15–20% of pheochromocytomas derived from chromaffin cells and secretes catecholamines. It has a high mortality rate due to hypertension and challenging anesthetic management. The present report is of a case of the successful management of paraganglioma resection with unexpected aortic resection. The patient presented for paraganglioma resection. The blood pressure (BP) was well controlled with α blockade followed by β blockade prior to surgery. The patient was under general anesthesia, with multiple intravenous lines, catheters and an arterial line. Induction was achieved by the administration of narcotic and volatile agents. During the procedure, the aorta was found to require resection in order to complete the tumor resection. The BP changed markedly with clamping and unclamping, tumor vein ligation and tumor resection. The increased BP due to catecholamine release and unclamping was controlled with phentolamine, nitroprusside, esmolol and labetolol. Drops in BP due to tumor vein ligation and clamping were managed with norepinephrine and vasopressin. With close communication and monitoring, the surgery on the patient was successfully completed and the patient was discharged days later in a hemodynamically stable condition. The diagnosis was further confirmed by pathology. This was a challenging case of paraganglioma resection with unexpected aortic resection. The success achieved suggests that the resection of paraganglioma and an aortic segment requires delicate anesthetic management. The key are α blockade and β blockade as necessary to control BP pre-operatively, frequent communication between the anesthesiologist and surgeons, intra-operative intervention in excess catecholamine release with phentolamine, nitroprusside and labetalol prior to tumor removal, and vasopressin for catecholamine deficiency when clamping or subsequent to tumor removal. It is a delicately orchestrated process requiring team work. PMID:25780466

  17. Replacement of a Björk-Shiley Delrin Aortic Valve Still Functioning after 25 Years

    PubMed Central

    Badak, M. Ismail; Ozkisacik, Erdem Ali; Boga, Mehmet; Gurcun, Ugur; Discigil, Berent

    2004-01-01

    We report the case of a patient who had undergone implantation of a Björk-Shiley Delrin valve in the aortic position 25 years earlier and who now presented with severe mitral stenosis. The patient underwent mitral valve replacement and aortic valve re-replacement. We review the justification for prophylactic replacement of Björk-Shiley Delrin heart valves. PMID:15562853

  18. An up-to-date overview of the most recent transcatheter implantable aortic valve prostheses.

    PubMed

    Wiegerinck, Esther M A; Van Kesteren, Floortje; Van Mourik, Martijn S; Vis, Marije M; Baan, Jan

    2016-01-01

    Over the past decade transcatheter aortic valve implantation (TAVI) has evolved towards the routine therapy for high-risk patients with severe aortic valve stenosis. Technical refinements in TAVI are rapidly evolving with a simultaneous expansion of the number of available devices. This review will present an overview of the current status of development of TAVI-prostheses; describes the technical features and applicability of each device and the clinical data available.

  19. Ruptured Juxtarenal Abdominal Aortic Aneurysm Treated With a Fenestrated EVAR Graft Intended for a Different Patient.

    PubMed

    Al-Jundi, Wissam; Elboushi, Amro; Lees, Tim; Williams, Robin

    2016-08-01

    Treatment of juxtarenal abdominal aortic aneurysms (AAAs) remains challenging. A 79-year-old male who had infrarenal endovascular repair of abdominal aortic aneurysm (EVAR) 13 years previously presented with leaking juxtarenal AAA. Emergency fenestrated EVAR (FEVAR) was performed utilizing a stent graft designed and built for a different patient. Despite the need to embolize the celiac artery prior to covering it with the stent graft in order to achieve adequate proximal seal, the patient had uneventful recovery. PMID:27334480

  20. The role of transesophageal echocardiography in aortic surgery.

    PubMed

    Nowak-Machen, Martina

    2016-09-01

    Aortic disease, when left untreated, is still associated with major morbidity and mortality. Aortic dissection and aortic aneurysm are the main reasons for performing aortic surgery procedures in the adult. Imaging techniques such as computed tomography and magnetic resonance imaging play a key role in the preoperative evaluation. Transesophageal echocardiography (TEE) has become a safe and invaluable perioperative imaging tool for aortic disease over the past decade with high sensitivity and specificity. TEE can increase patient safety and improve overall patient outcome in aortic surgery. Especially during endovascular aortic repair, TEE is more sensitive than other imaging modalities in diagnosing complications such as graft endoleaks. Newer echocardiographic techniques such as three-dimensional (3D) TEE and contrast-enhanced TEE are emerging and seem to have a valuable role especially in aortic dissection repair and endovascular aortic stent procedures. In the absence of contraindications, TEE should generally be performed during aortic surgery and endovascular aortic procedures. PMID:27650342