Genetic considerations for adults with congenital heart disease. Issue 1 (13th February 2020)

• Record Type: Journal Article
• Authors: Ito, Seiji; Chapman, Kimberly A.; Kisling, Monisha; John, Anitha S.
• Other Names: Kruszka Paul guestEditor.; Beaton Andrea guestEditor.
• Is Part Of: American journal of medical genetics. Volume 184:Issue 1(2020)
• Page Start: 149
• Page End: 153
• Publication Date: 2020-02-13
• Subjects: adult congenital heart disease -- genetics -- precision medicine; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31777
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: 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.