Congenital aortic stenosis

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...

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...

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...

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...

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...

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...

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...

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...

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)...

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).

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...

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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...

BACKGROUND: Few longitudinal studies have delineated the association between traditional cardiovascular risk factors and development of aortic stenosis (AS). OBJECTIVES: The authors examined the association between traditional cardiovascular risk factors and incident severe AS in a large, unselected elderly population. METHODS: This observational cohort study used multiple linked health care population-based databases of individuals older than 65 years on April 1, 2002, without prior valvular disease, coronary artery disease, heart failure, cardiac arrhythmia, cerebrovascular disease, congenital heart disease, or admissions with cardiac symptoms...

Degenerative aortic stenosis is an acquired heart defect manifesting as progressive thickening and calcification of leaflets of originally normal tricuspid or congenital bicuspid aortic valve with development of orifice narrowing, left ventricular hypertrophy, and high risk of cardiovascular complications. In this review we present modern concepts of formation and progression of degenerative aortic stenosis and discuss optimal methods of management of this disease.

Williams syndrome is a well-recognised congenital disorder characterised by cardiovascular, connective tissue, and central nervous system abnormalities. Coronary artery abnormalities are seen in patients with supravalvar aortic stenosis, but end-stage ischaemic heart disease is rare. We report a case of end-stage ischaemic heart disease due to severe coronary arterial stenosis, highlighting how cardiovascular MRI contributed to the management.

The present study aimed to identify the mutation causing an atypical syndrome. High-resolution single nucleotide polymorphism (SNP) arrays are considered to be a major detection method for submicroscopic chromosomal rearrangements smaller than 5 Mb in size. Genomic DNA samples of the patient and his parents were converted to a final concentration of 50 ng/ml. The Illumina BeadScan genotyping system and the HumanOmni1‑Quad Chip were employed to obtain the signal intensities of SNP probes. The patient presented with congenital heart disease, autism, mental retardation, growth retardation, hypercalcemia, nephroliths and cleft palate...

Children with hemodynamically significant congenital heart disease (CHD) are at elevated risk of morbidity and mortality due to respiratory syncytial virus (RSV) disease compared to their healthy peers. Previous studies have demonstrated lower RSV hospitalization risk among all children with CHD at 12-23 months of age versus 0-11 months of age. However, RSV hospitalization risk at 12-23 months of age by specific CHD diagnosis has not been characterized. Both case-control and cohort studies were conducted using data from the US National Inpatient Sample from 1997 to 2013 to characterize relative risk of RSV hospitalization among children 12-23 months of age with CHD...

The aim of this review was to describe recent advancements in the understanding of bicuspid aortic valve (BAV). BAV is the most common congenital cardiac anomaly, and affects between 0.46% and 1.37% of the population. There is a male predominance of approximately 3:1.While isolated BAV is found in certain patients, it is often associated with other congenital cardiac lesions, including dilatation of the thoracic aorta, coarctation of the aorta and abnormalities of the coronary anatomy. In most cases, it remains undetected until the patient contracts infective endocarditis, or calcification occurs...

BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty...