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The genetic workup for structural congenital heart disease
Author(s) -
Jerves Teodoro,
Beaton Andrea,
Kruszka Paul
Publication year - 2020
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31759
Subject(s) - etiology , heart disease , genetic testing , medicine , disease , genetic counseling , genetic epidemiology , genetic diagnosis , epidemiology , selection (genetic algorithm) , bioinformatics , pediatrics , intensive care medicine , pathology , genetics , biology , computer science , artificial intelligence , gene
Congenital heart disease (CHD) is the most prevalent birth defect and is the result of multiple etiologies including genetic and environmental causes. This article reviews the genetic workup for structural CHD in the clinical setting, beginning with CHD epidemiology and etiology and then moving to genetic testing, clinical evaluation, and genetic counseling. An algorithm is presented as a guide to genetic test selection, and available tests are explained with their respective advantages and limitations. Finally, future advances are discussed. As this review focuses on structural heart disease, isolated cardiomyopathies, inherited primary arrhythmia syndromes and aortopathies are not discussed.