A new era of genetic testing in congenital heart disease: A review

Trends Cardiovasc Med. 2022 Jul;32(5):311-319. doi: 10.1016/j.tcm.2021.04.011. Epub 2021 May 5.


Genetic and genomic testing in pediatric CHD is becoming increasingly routine, and can have important psychosocial, clinical and reproductive implications. In this paper we highlight important challenges and considerations when providing genetics consults and testing in pediatric CHD and illustrate the role of a dedicated CHD genetics clinic. Key lessons include that a) a genetic diagnosis can have clinical utility that justifies testing early in life, b) adequate genetic counselling is crucial to ensure families are supported, understand the range of possible results, and are prepared for new or unexpected health information, and c) further integration of the clinical genetics and cardiology workflows will be required to effectively manage the burgeoning information arising from genetic testing. Our experience demonstrates that a dedicated CHD genetics clinic is a valuable addition to a multidisciplinary team providing care to children with CHD.

Keywords: Congenital heart disease; Genetic counselling; Genetic testing; Genomics.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Genetic Counseling
  • Genetic Testing*
  • Heart Defects, Congenital* / diagnosis
  • Heart Defects, Congenital* / genetics
  • Heart Defects, Congenital* / therapy
  • Humans
  • Referral and Consultation