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Genetics and Genomics of Congenital Heart Disease

Samir Zaidi1, Martina Brueckner2

  • 1From the Departments of Genetics (S.Z.) and Pediatrics and Genetics (M.B.), Yale University School of Medicine, New Haven CT.

Circulation Research
|March 18, 2017
PubMed

Insights

Genetic discoveries reveal the complex causes of congenital heart disease (CHD), the most common birth defect. Understanding these genetic factors improves cardiac development knowledge and patient care.

Area of Science:

  • Cardiovascular Genetics
  • Developmental Biology

Background:

  • Congenital heart disease (CHD) is the most common birth defect.
  • Advances in genomic technologies have identified genetic causes for a significant portion of CHD cases.
  • More adults than children now live with CHD due to improved medical and surgical management.

Purpose of the Study:

  • To review the evidence for genetic causes of CHD.
  • To discuss both monogenic and complex genetic mechanisms underlying CHD.
  • To highlight the implications of CHD genetic studies for understanding cardiac development and clinical care.

Main Methods:

  • Review of current scientific literature on CHD genetics.
  • Analysis of data from genomic studies identifying genetic variants associated with CHD.
  • Discussion of biological pathways implicated in CHD pathogenesis.

Main Results:

  • Genomic technologies have uncovered the genetic basis for a substantial fraction of CHD.
  • CHD genetics exhibit significant complexity, involving both monogenic and polygenic factors.
  • Genetic studies have identified key biological pathways crucial for cardiac development.

Conclusions:

  • Genetic factors play a critical role in the etiology of CHD.
  • Understanding CHD genetics enhances knowledge of cardiac development and informs clinical genetic evaluation.
  • Continued research into CHD genetics is essential for improving patient outcomes and management strategies.

Keywords:
geneticsgenomehumanlifetechnology

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