A case of hypoplastic left heart syndrome and bicuspid aortic valve in monochorionic twins.
The etiology of hypoplastic left heart syndrome (HLHS) remains unclear. Since a genetic cause for HLHS has not been obvious, it is generally considered to be inherited in a multifactorial manner. Studies of twins are valuable in elucidating the genetic contribution to a birth defect such as HLHS. We report a case of monochorionic twins in whom one has HLHS and the other has a bicuspid aortic valve. Predisposing genetic and environmental influences on individuals with identical genotypes, such as twins, may result in discordance of left-sided flow lesions.
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Wilford Hall Medical Center/859th MDOS, 2200 Bergquist Drive, Suite 1, Lackland AFB, TX 78236-5300, USA. thornton.mu@lackland.af.mil
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D001021:Aortic Valve / Q000002:abnormalities*; D004200:Diseases in Twins; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D007231:Infant, Newborn; D008297:Male; D014430:Twins, Monozygotic