Genetic and Developmental Basis of Cardiovascular Malformations

被引：24

作者：

Azhar, Mohamad ^{[1
]}

Ware, Stephanie M. ^{[1
,2
]}

机构：

[1] Univ S Carolina, Sch Med, Dept Cell Biol & Anat, 6439 Garners Ferry Rd, Columbia, SC 29208 USA

[2] Indiana Univ Sch Med, Dept Med & Mol Genet, 1044 West Walnut St, Indianapolis, IN 46202 USA

来源：

CLINICS IN PERINATOLOGY | 2016年 / 43卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Congenital heart defects; Congenital heart disease; Development; Gene dosage; CONGENITAL HEART-DISEASE; THORACIC AORTIC-ANEURYSM; LOEYS-DIETZ SYNDROME; ELASTIN GENE; DEFECTS; DIAGNOSIS; BETA; MUTATIONS; MOUSE; TBX1;

D O I：

10.1016/j.clp.2015.11.002

中图分类号：

R71 [妇产科学];

学科分类号：

100211 [妇产科学];

摘要：

Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multistep process of morphogenesis that is under genetic regulation. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified infrequently. This article discusses the key genetic concepts characterizing human CVMs, their developmental basis, and the critical developmental and genetic concepts underlying their pathogenesis.

引用

页码：39 / +

页数：16

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