Purpose of review: Congenital heart disease (CHD) remains the most common birth defect, occurring in 1% of all births. Although the exact etiology of CHD is still largely unknown, it is thought to be an interaction of genetic and non-genetic factors. The purposes of this review are to summarize recent advances in CHD genetics and testing and to present a suggested algorithm for appropriate use of genetic testing in patients with CHD.
Recent findings: Advances in genetic testing technology are rapidly expanding the options for screening and are providing further insights into the genetic and molecular background of non-syndromic CHD. As the field advances, the role of the geneticist and genetic counselor will continue to expand as the testing becomes more complex and interpretation of results becomes increasingly challenging. Coordination of practice between cardiologists and geneticists using a shared clinical structure is essential and will help improve cost utilization and facilitate individualized patient care.
Keywords: Congenital heart disease; Genetic counseling; Genetic testing.