Affordable Access

deepdyve-link
Publisher Website

Genetic Basis of Human Congenital Heart Disease.

Authors
  • Nees, Shannon N1
  • Chung, Wendy K1, 2
  • 1 Department of Pediatrics.
  • 2 Department of Medicine, Columbia University Irving Medical Center, New York, New York 10032, USA.
Type
Published Article
Journal
Cold Spring Harbor Perspectives in Biology
Publisher
Cold Spring Harbor Laboratory
Publication Date
Sep 01, 2020
Volume
12
Issue
9
Identifiers
DOI: 10.1101/cshperspect.a036749
PMID: 31818857
Source
Medline
Language
English
License
Unknown

Abstract

Congenital heart disease (CHD) is the most common major congenital anomaly with an incidence of ∼1% of live births and is a significant cause of birth defect-related mortality. The genetic mechanisms underlying the development of CHD are complex and remain incompletely understood. Known genetic causes include all classes of genetic variation including chromosomal aneuploidies, copy number variants, and rare and common single-nucleotide variants, which can be either de novo or inherited. Among patients with CHD, ∼8%-12% have a chromosomal abnormality or aneuploidy, between 3% and 25% have a copy number variation, and 3%-5% have a single-gene defect in an established CHD gene with higher likelihood of identifying a genetic cause in patients with nonisolated CHD. These genetic variants disrupt or alter genes that play an important role in normal cardiac development and in some cases have pleiotropic effects on other organs. This work reviews some of the most common genetic causes of CHD as well as what is currently known about the underlying mechanisms. Copyright © 2020 Cold Spring Harbor Laboratory Press; all rights reserved.

Report this publication

Statistics

Seen <100 times