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Congenital aortic stenosis

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https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#1
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#2
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28621042/clinical-evaluation-of-anomalous-aortic-origin-of-a-coronary-artery-aaoca
#3
Silvana Molossi, Hitesh Agrawal
The clinical evaluation of patients with an anomalous aortic origin of a coronary artery (AAOCA), a congenital abnormality of the origin or course of a coronary artery that arises from the aorta, is challenging given its first presentation being sudden cardiac arrest in about half of the patients. Symptoms of chest pain, shortness of breath and syncope during exertion should be of concern in evaluating young athletes and nonathletes. The lack of abnormal signs on the physical exam and electrocardiogram further adds to the difficulty in establishing the diagnosis...
June 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28616342/bicuspid-aortic-valve-syndrome-a-multidisciplinary-approach-for-a-complex-entity
#4
REVIEW
María Martín, Rebeca Lorca, José Rozado, Rubén Alvarez-Cabo, Juan Calvo, Isaac Pascual, Helena Cigarrán, Isabel Rodríguez, César Morís
Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease. It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28598551/coronary-artery-bypass-grafting-in-infants-children-and-young-adults-for-acquired-and-congenital-lesions
#5
Constantine Mavroudis
Coronary artery disease ranges from congenital in origin such as anomalous aortic origin of a coronary artery (AAOCA) to acquired diseases such as Kawasaki disease, and previously repaired conditions such as transposition of the great arteries. It is not uncommon, in the long run, for proximal coronary stenosis to develop following arterial switch, AAOCA repair, Ross procedure and Kawasaki disease leading to coronary artery bypass grafing (CABG). The objective of this report is to discuss the indications, challenges, and outcomes of CABG in infants, children, and young adults with acquired and congenital lesions...
June 9, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28560045/correlation-of-neuter-status-and-expression-of-heritable-disorders
#6
Janelle M Belanger, Thomas P Bellumori, Danika L Bannasch, Thomas R Famula, Anita M Oberbauer
BACKGROUND: Gonadectomy, or neutering, is a very common surgery for dogs having many positive effects on behavior, health, and longevity. There are also certain risks associated with neutering including the development of orthopedic conditions, cognitive decline, and a predisposition to some neoplasias. This study was designed specifically to identify if a correlation exists between neuter status and inherited conditions in a large aggregate cohort of dogs representing many different breeds...
2017: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/28557866/imaging-adult-patients-with-discrete-subvalvar-aortic-stenosis
#7
Alexander R Opotowsky, Sarah S Pickard, Tal Geva
PURPOSE OF REVIEW: Distinction between discrete subvalvar aortic stenosis and other causes of left ventricular outflow obstruction has important implications for predicting natural history and guiding the timing and type of intervention. Imaging, primarily transthoracic echocardiography (TTE), plays a pivotal role in the diagnosis and management of adults with subvalvar aortic stenosis. RECENT FINDINGS: Most systematic research on imaging of subvalvar aortic stenosis has focused on echocardiography...
May 26, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28533581/bicuspid-aortic-valve-an-unusual-cause-of-aneurysm-of-left-coronary-sinus-of-valsalva
#8
Euden Bhutia, Dinesh Kumar, Binoy Shankar, Shakti Pad Das, Sunil Kishore
Bicuspid aortic valve is traditionally considered an innocuous congenital anomaly. Due to a better and widespread availability of non-invasive imaging techniques, it has come to the fore that 30% of these cases develop complications, viz., valve abnormality (aortic regurgitation and stenosis), and aneurysm of aortic root and ascending aorta. Sinus of Valsalva aneurysm is an uncommon complication of bicuspid aortic valve and more so those arising from the left coronary sinus are the rarest. These complications generally occur in the third or fourth decade of life...
May 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28462556/double-chambered-right-ventricle-a-rare-diagnosis
#9
Nitesh Pansari, H Raghavendra, Hemant Mahur, Mahesh Dave
A 27 years old female was admitted to our hospital with complaints of swelling of feet and abdomen, pain abdomen and exertional dyspnea from last 1 week. On examination she was found to have congestive heart failure. Chest x-ray revealed mild cardiomegaly with left pleural effusion and electrocardiography showed right axis deviation with right ventricular hypertrophy. By echocardiography she was diagnosed to have double chambered right ventricle without any other congenital heart anomaly. She was started on medical treatment following which she recovered well and she was advised for surgery...
March 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28460759/utility-of-physical-examination-and-comparison-to-echocardiography-for-cardiac-diagnosis
#10
Ashish Patel, Nitin Singh Tomar, Anil Bharani
OBJECTIVE: To find out the accuracy of cardiac auscultation using non-digital stethoscope in physical diagnosis of cardiac diseases. METHODS: We enrolled 104 consecutive patients with abnormal cardiac auscultatory findings attending cardiology clinic and not previously evaluated by echocardiography. One time detailed cardiac physical examination followed by echocardiography within 1 month was undertaken. Agreement between two methods was calculated using mean pair percentage agreement, kappa statistics (κ) and calculation of 95% confidence interval (CI) for kappa statistics...
March 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28441821/-assessment-of-undiagnosed-critical-congenital-heart-disease-before-discharge-from-the-maternity-hospital
#11
Q M Zhao, F Liu, L Wu, M Ye, B Jia, X J Ma, G Y Huang
Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28424443/case-report-of-a-rarely-seen-long-segment-middle-aortic-syndrome
#12
Kahraman Yakut, İlkay Erdoğan
Middle aortic syndrome (MAS) follows a course with distal thoracic and abdominal aorta stenosis. It is a rare disease that is usually diagnosed after the first decade of life. Clinical reflection of MAS is often in the form of hypertension and claudication in the lower extremities. Its etiology is unclear, but is known to be associated with congenital or acquired diseases. This pathology, which is accompanied by malignant hypertension, often does not respond to medical treatment. In patients with MAS, surgical treatment is first line recommendation to prevent complications such as hypertension, heart failure, intracranial bleeding, or aortic rupture...
March 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28420337/right-aortic-arch-analysis-anatomical-variant-or-serious-vascular-defect
#13
Agata Arazińska, Michał Polguj, Konrad Szymczyk, Magdalena Kaczmarska, Łukasz Trębiński, Ludomir Stefańczyk
BACKGROUND: The right-sided aortic arch (RAA) is a rare congenital defect of the aorta. The aim of the study was to assess the occurrence of RAA in diagnoses performed by the University Radiology Department and analyze the frequency of concomitant vascular abnormalities. METHODS: The database of the Radiology Department was retrospectively analyzed between January 2008 and May 2016 with the keyword "right aortic arch". Twenty patients with this diagnosis were identified from a total of 11,690 CT examinations of the chest area, 19,623 CT examinations of brain-supplying vessels, and 1863 MRI examinations of the heart and aortic arch or brain-supplying arteries...
April 19, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28394008/large-thoracic-tumor-without-superior-vena-cava-syndrome
#14
Nikolaos Garmpis, Christos Damaskos, Nikolaos Patelis, Dimitrios Dimitroulis, Eleftherios Spartalis, Ioannis Tomos, Anna Garmpi, Michael Spartalis, Efstathios A Antoniou, Konstantinos Kontzoglou, Periklis Tomos
A 62 year-old male with long-standing smoking history presented with hemoptysis. Plain chest x-ray showed abnormal findings proximate to the right pulmonary hilum. Bronchoscopy revealed a fragile exophytic tumor of the right wall of the lower third of the trachea, infiltrating the right main bronchus (75% stenosis) and the right upper lobar bronchus (near total occlusion). Contrast-enhanced chest CT demonstrated a 7.2x4.9 cm tumor contiguous to the above-mentioned structures, mediastinal lymph node pathology, and a vessel coursing inferiorly to the left of the aortic arch and anterior to the left hilum...
April 10, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28381879/tfap2b-mutation-and-dental-anomalies
#15
Natchaya Tanasubsinn, Rekwan Sittiwangkul, Yupada Pongprot, Katsushige Kawasaki, Atsushi Ohazama, Thanapat Sastraruji, Massupa Kaewgahya, Piranit Nik Kantaputra
Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with isolated tooth agenesis with or without other dental anomalies. The heterozygous c.1006G>A mutation was identified in 20 individuals. Those mutation carriers consisted of 1 patient with term PDA (1/43), 16 patients with isolated tooth agenesis with or without other dental anomalies (16/286; 5...
April 6, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28377475/diagnosis-imaging-and-clinical-management-of-aortic-coarctation
#16
REVIEW
Elles J Dijkema, Tim Leiner, Heynric B Grotenhuis
Coarctation of the aorta (CoA) is a well-known congenital heart disease (CHD), which is often associated with several other cardiac and vascular anomalies, such as bicuspid aortic valve (BAV), ventricular septal defect, patent ductus arteriosus and aortic arch hypoplasia. Despite echocardiographic screening, prenatal diagnosis of CoA remains difficult. Most patients with CoA present in infancy with absent, delayed or reduced femoral pulses, a supine arm-leg blood pressure gradient (>20 mm Hg), or a murmur due to rapid blood flow across the CoA or associated lesions (BAV)...
April 4, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28367436/severe-aortic-stenosis-and-severe-coarctation-of-the-aorta-a-hybrid-approach-to-treatment
#17
Daniel McLennan, Massimo Caputo, Demetris Taliotis
Hybrid surgery is becoming more popular in the treatment of children with congenital heart disease, particularly small infants and neonates. We report a case of a patient with aortic stenosis (AS) and coarctation of the aorta (CoA). CASE: a 1-month-old baby presented with severe AS and CoA. The decision was made to perform a hybrid surgical procedure. The patient underwent a lateral thoracotomy for repair of the CoA and carotid cutdown for aortic balloon valvuloplasty (AoVP).
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28363949/incidental-finding-of-anomalous-circumflex-coronary-artery-from-right-coronary-sinus-prior-to-aortic-valve-surgery
#18
Amer Harky, Alexander Hof, Mohammad U Ahmad, Rakesh Uppal
Anomalous origin of the left circumflex (Cx) artery is a common and mostly benign coronary artery anomaly. We report the case of a man aged 52 years who presented to his local hospital with progressive breathlessness on exertion and syncopal episodes. His admission transthoracic echocardiography (TTE) showed bicuspid aortic valve, severe aortic stenosis with a valve area of 0.5 cm(2) and his left ventricular ejection fraction (LVEF) was 27%. His coronary angiogram showed normal coronary arteries but anomalous origin of the Cx artery from the right coronary...
March 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28363226/frontiers-of-valvular-heart-disease-from-aortic-stenosis-to-the-tricuspid-valve-and-congenital-anomalies
#19
Thomas F Lüscher
No abstract text is available yet for this article.
March 1, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28337429/investigating-cardiac-motion-patterns-using-synthetic-high-resolution-3d-cardiovascular-magnetic-resonance-images-and-statistical-shape-analysis
#20
Benedetta Biffi, Jan L Bruse, Maria A Zuluaga, Hopewell N Ntsinjana, Andrew M Taylor, Silvia Schievano
Diagnosis of ventricular dysfunction in congenital heart disease is more and more based on medical imaging, which allows investigation of abnormal cardiac morphology and correlated abnormal function. Although analysis of 2D images represents the clinical standard, novel tools performing automatic processing of 3D images are becoming available, providing more detailed and comprehensive information than simple 2D morphometry. Among these, statistical shape analysis (SSA) allows a consistent and quantitative description of a population of complex shapes, as a way to detect novel biomarkers, ultimately improving diagnosis and pathology understanding...
2017: Frontiers in Pediatrics
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