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CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.
The Blalock–Thomas–Taussig shunt (BTT shunt), [1] previously known as the Blalock–Taussig Shunt (BT shunt), [2] is a surgical procedure used to increase blood flow to the lungs in some forms of congenital heart disease [3] such as pulmonary atresia and tetralogy of Fallot, which are common causes of blue baby syndrome. [3]
John Webster Kirklin (April 5, 1917 – April 21, 2004) was an American cardiothoracic surgeon, general surgeon, prolific author and medical educator who is best remembered for refining John Gibbon's heart–lung bypass machine via a pump-oxygenator to make feasible under direct vision, routine open-heart surgery and repairs of some congenital heart defects.
Its applications include assessment of myocardial ischemia and viability, cardiomyopathies, myocarditis, iron overload, vascular diseases, and congenital heart disease. [5] It is the reference standard for the assessment of cardiac structure and function, [6] and is valuable for diagnosis and surgical planning in complex congenital heart ...
Persistent truncus arteriosus (PTA), [1] often referred to simply as truncus arteriosus, [2] is a rare form of congenital heart disease that presents at birth. In this condition, the embryological structure known as the truncus arteriosus fails to properly divide into the pulmonary trunk and aorta.
Most congenital heart defects are not associated with other diseases. [3] A complication of CHD is heart failure. [2] Congenital heart defects are the most common birth defect. [3] [11] In 2015, they were present in 48.9 million people globally. [8] They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed.
Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. [1] EA has great anatomical heterogeneity that generates a wide spectrum of clinical features at presentation and is complicated by the fact that the ...
Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least common type of aortic stenosis. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.
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