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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.
After examining 833 children with the syndrome, in 1963 presented a paper: "Associated non-cardiac malformations in children with congenital heart disease". [46] This described nine children who in addition to congenital heart disease had characteristic facial features, chest deformities and short stature. Dr. John Opitz, a former student of ...
Surgery for congenital heart defects. Surgery for congenital heart defects depends on the type you have. A surgery can help repair holes in the heart, replace a valve, widen blood vessels, or in ...
The variant with aberrant left subclavian artery is associated with congenital heart disease in only a small minority of affected people. The mirror-image type of right aortic arch is very strongly associated with congenital heart disease, in most cases tetralogy of Fallot. [citation needed]
Out of all the babies born with congenital heart defects, about 25 % have cyanosis as a result. Tetralogy of Fallot is the most common cyanotic cardiac heart defect. [37] Methemoglobinemia is considered to be rare, with acquired methemoglobinemia encountered more than the congenital form. [38]
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 ...
The most common heart malformations from genetic or epigenetic problems are: stenosis of the aorta and pulmonary trunk, which is a narrowing of the vessels, atrial and/or ventricular septal defect, tricuspid atresia, and hypoplastic left and right heart syndrome. When an individual has hypoplastic right or left heart syndrome, it means that ...