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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.
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.
A Washington State University sophomore on the school's cheer team, Reyes, 19, knows what it's like to have heart issues as a survivor of a congenital heart defect called Tetralogy of Fallot ...
Taussig's early career in pediatric cardiology at Johns Hopkins consisted of studying babies with congenital heart defects and rheumatic fever, [17] an inflammation of the heart and other organs resulting from bacterial infection, which was at the time a major source of child mortality. In the early 20th century, rheumatic heart disease made up ...
Congenital heart disease happens when part of your heart doesn’t develop properly from birth. The underlying cause often isn’t clear, but risk factors include: Down’s syndrome.
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 ...
Congenital heart problems e.g. pulmonary artery stenosis (common), Tetralogy of Fallot, overriding aorta, ventricular septal defect; and right ventricular hypertrophy. Liver (jaundice, pruritus, hepatosplenomegaly, acholia, xanthoma) Andersen–Tawil syndrome: This condition affects the QT interval (in blue) Antley–Bixler syndrome: Barth syndrome
Her primary interest was congenital heart defects; she discovered one type of defect, scimitar syndrome, in 1960. Over the course of her career, Neill co-directed the Baltimore Washington Infant Study of the 1980s, contributed to 100 journal articles and 40 book chapters, and co-authored two books.