P203: The clinical impact of genetic testing in infants with congenital heart disease

Genetics in Medicine Open 2026 Open access

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Authors: Megan Nielsen, Raji Venkitachalam, Steven R. Leuthner, Donald Basel, Michael J. Muriello
DOI: 10.1016/j.gimo.2026.103697
Cited by: 0

Abstract

Congenital Heart Disease (CHD) is the most common birth defect and has an identifiable genetic etiology in up to 25% of cases. As a result, many hospitals have incorporated genetic evaluation into CHD care, increasing genetic diagnoses and potentially improving immediate treatment planning, multidisciplinary care, and risk stratification. Given this diagnostic success, many physicians advocate for routine genetic screening in infants with CHD, regardless of lesion type or associated abnormalities.

Fields of Study & Subjects

Congenital Heart Disease Studies Genomics and Rare Diseases Congenital heart defects research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103697–103697
Publication date
1 January 2026
Language
EN