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Education in Heart
Genetic syndromes associated with congenital heart disease
  1. Valeria E Duarte1,2,
  2. Michael N Singh2,3
  1. 1 Houston Methodist Debakey Heart and Vascular Center, Houston, Texas, USA
  2. 2 Department of Cardiology, Boston Children’s Hospital, Boston, Massachusetts, USA
  3. 3 Cardiology, Brigham and Women's Hospital, Boston, Massachusetts, USA
  1. Correspondence to Dr Valeria E Duarte; vduarte{at}houstonmethodist.org

Abstract

Congenital heart defects are the most common type of birth defect, affecting 1% of live births. The underlying cause of congenital heart disease is frequently unknown. However, advances in human genetics and genome technologies have helped expand congenital heart disease pathogenesis knowledge during the last few decades. When the cardiac defects are part of a genetic syndrome, they are associated with extracardiac conditions and require multidisciplinary care and surveillance. Some genetic syndromes can have subtle clinical findings and remain undiagnosed well into adulthood. Each syndrome is associated with specific congenital and acquired comorbidities and a particular clinical risk profile. A timely diagnosis is essential for risk stratification, surveillance of associated conditions and counselling, particularly during family planning. However, genetic testing and counselling indications can be challenging to identify in clinical practice. This document intends to provide an overview of the most clinically relevant syndromes to consider, focusing on the phenotype and genotype diagnosis, outcome data, clinical guidelines and implications for care.

  • Congenital heart disease

https://doi.org/10.1136/heartjnl-2023-323126

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    Footnotes

    • X @valeriaduarteMD

    • Contributors VED and MNS reviewed the literature, selected relevant topics and literature, structured the manuscript, composed and reviewed text and made the necessary edits. VED selected the images and structured the tables.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; internally peer reviewed.

    • Author note References which include a * are considered to be key references.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.