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Genetic syndromes associated with congenital heart disease
  1. Valeria E Duarte1,2,
  2. Michael N Singh2,3
  1. 1Houston Methodist Debakey Heart and Vascular Center, Houston, Texas, USA
  2. 2Department of Cardiology, Boston Children’s Hospital, Boston, Massachusetts, USA
  3. 3Cardiology, Brigham and Women's Hospital, Boston, Massachusetts, USA
  1. Correspondence to Dr Valeria E Duarte, Houston Methodist Debakey Heart & Vascular Center, Houston, TX 77030, USA; vduarte{at}


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

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  • 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.

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