Genetic considerations for adults with congenital heart disease.

Publication date: Feb 13, 2020

Congenital heart disease (CHD) remains the most common birth defect, with an estimated incidence of approximately 1% of all births. The population of adults with CHD is growing rapidly with advances in medical care. Overall survival to adulthood in the current era estimated to exceed 90%. Genetic causes of CHD can be classified into several broad categories: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. However, only 20-30% of CHD cases have an established etiology characterized by either genetic abnormalities or environmental factors. The role of genetics in the field of adult CHD is only increasing. More adult patients with CHD are seeking genetic counseling to understand the etiology of their underlying CHD and the risks to future offspring. A multidisciplinary approach is essential to provide appropriate counseling to patients regarding indications for genetic testing and interpretations of results. Novel advances with precision medicine may soon enable clinicians to individualize therapies for a comprehensive approach to the care of adult patients with CHD.

Ito, S., Chapman, K.A., Kisling, M., and John, A.S. Genetic considerations for adults with congenital heart disease. 06323. 2020 Am J Med Genet C Semin Med Genet.

Concepts Keywords
Aneuploidy Common birth defect
Birth Defect CHD
Chromosomal Deletion Counseling
Congenital Heart Disease Branches of biology
Counseling RTT
Etiology Medical genetics
Genetic Medicine
Genetic Counseling Clinical medicine
Genetic Testing Congenital heart defect
Incidence Genetic counseling
Mutation CHD
Birth defect
Genetic testing


Type Source Name
disease MESH birth defect
disease MESH aneuploidy
disease MESH abnormalities


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