Genetics in medicine : official journal of the American College of Medical Genetics · 2008
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод в очереди
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Lin Angela E, Basson Craig T, Goldmuntz Elizabeth, Magoulas Pilar L, McDermott Deborah A, McDonald-McGinn Donna M, McPherson Elspeth, Morris Colleen A, Noonan Jacqueline, Nowak Catherine, Pierpont Mary Ella, Pyeritz Reed E, Rope Alan F, Zackai Elaine, Pober Barbara R
Аннотация
Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome.