Moreno García M, Gómez Rodríguez M J, Barreiro Miranda E
Servicio de Genética, Hospital 12 de Octubre, Madrid.
An Esp Pediatr. 2000 Jul;53(1):30-9.
Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.
先天性心脏畸形是所有出生缺陷中最常见的,影响着0.5%至1%的活产婴儿。其中一些畸形是由基因异常引起的。常染色体显性、常染色体隐性和X连锁遗传模式均有相关描述。线粒体遗传和染色体异常也可能导致先天性心脏畸形。目前已鉴定出多个与先天性心脏缺陷相关的基因。我们对先天性心脏病遗传病因的现有知识进行综述。