The genetic workup for structural congenital heart disease.
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.
['Jerves|Teodoro|T|', 'Beaton|Andrea|A|0000-0002-4963-355X', 'Kruszka|Paul|P|0000-0003-4949-0875']
D000465:Algorithms D009202:Cardiomyopathies D005817:Genetic Counseling D005820:Genetic Testing D006330:Heart Defects, Congenital D006801:Humans
genetics congenital heart disease genetic testing genetic counseling