Feit L R
Brown University School of Medicine, Providence, Rhode Island, USA.
Adv Pediatr. 1998;45:267-92.
Congenital malformations of the heart are the most common of all birth defects. Traditionally, a multifactorial model combining genetic predisposition with environmental influence has been cited as the cause of greater than 90% of heart disease. This may be too broad inasmuch as linkage analysis combined with the explosion of information derived from the Human Genome Project has allowed the identification of genetic defects for many types of acquired and congenital diseases of the heart. This review provides a summary of cardiac conditions for which genetic etiologies are apparent, as well as an introduction to some basic clinical genetic concepts. Despite significant advances, it is important to remember that we are still very early in our understanding of the relationship of genotype to phenotype and that the clinical implications of the genetic defects identified are incompletely understood and have only begun to be studied.
先天性心脏畸形是所有出生缺陷中最常见的。传统上，一种将遗传易感性与环境影响相结合的多因素模型被认为是超过90%心脏病的病因。鉴于连锁分析与人类基因组计划所产生的信息爆炸相结合，使得许多类型的后天性和先天性心脏病的遗传缺陷得以识别，这种说法可能过于宽泛。本综述总结了明显具有遗传病因的心脏疾病，并介绍了一些基本的临床遗传学概念。尽管取得了重大进展，但必须记住，我们对基因型与表型关系的理解仍处于非常早期的阶段，而且已识别的遗传缺陷的临床意义尚未完全明了，才刚刚开始研究。
