Complex Genetics and the Etiology of Human Congenital Heart Disease

  • Richard W. Kim
  • Peter J. GruberEmail author
Part of the Cardiac and Vascular Biology book series (Abbreviated title: Card. vasc. biol., volume 7)


The genetic architecture of human congenital heart disease (CHD) is as complex as the phenotypes it produces. The objective of this chapter is to review recent findings on the genetic basis and inheritance patterns of CHD. Rather than provide lists of identified genes, instead we offer a conceptual framework to understand the relationship between genetic variation and CHD. We review recent studies utilizing contemporary techniques, some of which may be difficult to interpret for the nonspecialist. This overview aims to educate students and clinicians, providing a background to understand pertinent genetic literature as it relates to human CHD.


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Yale University School of MedicineNew HavenUSA
  2. 2.Children’s Hospital of Los Angeles, Keck School of MedicineUniversity of Southern CaliforniaLos AngelesUSA

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