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Genetic Basis of Human Congenital Heart Disease

Shannon N Nees1, Wendy K Chung1,2

  • 1Department of Pediatrics.

Cold Spring Harbor Perspectives in Biology
|December 11, 2019
PubMed

Insights

Congenital heart disease (CHD), a common birth defect, arises from complex genetic factors including chromosomal abnormalities and gene variants. Understanding these genetic causes is crucial for improving diagnosis and outcomes for affected infants.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Congenital heart disease (CHD) is a leading cause of infant mortality due to birth defects, affecting approximately 1% of newborns.
  • The genetic underpinnings of CHD are intricate and not fully elucidated, encompassing various forms of genetic variation.
  • Identifying genetic causes is more probable in cases of nonisolated CHD.

Purpose of the Study:

  • To review the primary genetic factors contributing to congenital heart disease.
  • To explore the mechanisms through which genetic variations impact cardiac development.
  • To provide an overview of current knowledge on CHD genetics.

Main Methods:

  • Literature review of genetic causes of CHD.
  • Analysis of genetic variation types (aneuploidies, CNVs, SNVs) in CHD patients.
  • Examination of gene function in cardiac development.

Main Results:

  • Genetic variations, including chromosomal abnormalities (8-12%), copy number variations (3-25%), and single-gene defects (3-5%), are implicated in CHD.
  • These variants disrupt critical genes involved in heart formation.
  • Some genetic variants have broader effects on multiple organs (pleiotropic effects).

Conclusions:

  • Genetic factors play a significant role in the etiology of congenital heart disease.
  • A spectrum of genetic variations contributes to CHD, affecting key developmental pathways.
  • Further research into CHD genetics is essential for advancing clinical understanding and treatment.

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