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
Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA.
Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097/gim.0b013e3181772111.
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.
心血管异常，尤其是结构性先天性心脏缺陷，常见于畸形综合征和遗传疾病中。患有综合征的个体在某些先天性心脏缺陷（如完全性房室通道、B型主动脉弓中断、主动脉瓣上狭窄和肺动脉狭窄）的患者中占很大比例。随着这些个体年龄的增长，他们构成了有特殊医疗需求的成年人群体的一部分。尽管大多数人需要长期的心脏病学随访，但初级保健提供者、遗传学家和其他专家应了解：（1）心血管异常的类型和频率；（2）临床结果的范围；（3）潜在并发症的前瞻性管理和治疗指南。本文回顾了与常见遗传综合征相关的基本遗传、心脏、医学和生殖问题，这些综合征常与心血管异常有关。还提供了关于患有22q11.2缺失和唐氏综合征的成年人心脏状况的新数据。
