Genetic factors in congenital heart malformation

被引：44

作者：

Andelfinger, G. ^{[1
]}

机构：

[1] Univ Montreal, Hop St Justine, Pediat Cardiol Serv, Dept Pediat, Montreal, PQ H3T 1C5, Canada

来源：

CLINICAL GENETICS | 2008年 / 73卷 / 06期

关键词：

animal models of disease; congenital heart disease; genetics; genotype; phenotype correlation; linkage analysis; pediatric cardiology;

D O I：

10.1111/j.1399-0004.2008.01009.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also implicated in heart disease in adults. Significant advances have been made over the past decade in elucidating morphogenetic events of heart formation and their underlying molecular cascades, mostly in animal models. Clinical studies are increasingly successful in quantifying and unraveling genetic factors. This review focuses on recent progress made in understanding the genetic underpinnings of normal and abnormal heart formation and highlights the importance of understanding these mechanisms to improve patient management.

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收藏

页码：516 / 527

页数：12

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