Genetics and Epigenetics of Human Congenital Heart Disease

Congenital heart disease (CHD), a birth defect involving structural anomalies of the cardiovascular system, is one of the most common birth defects. Clinical studies and analysis of mouse models have shown a genetic etiology for CHD. The finding of incomplete penetrance and variable expressivity would suggest the involvement of complex genetics and with additional modifying effects from epigenetic mechanisms such as DNA methylation or chromatin modifications. While many genes have now been identified to contribute to CHD, the genetic architecture of CHD is still poorly understood. Moreover, gene-environment interactions are likely important contributing factors impacting the risk of having CHD, such as with chemical exposures, folate deficiencies, or diet. Furthermore, recent work suggests CHD penetrance can be modified by maternal exercise, suggesting as yet other unknown epigenetic mechanisms impacting CHD penetrance. With surgical advances now allowing more adults to survive with CHD there is also the realization that CHD patients surviving to adulthood often suffer neurocognitive impairment, neurobehavioral deficits, increased risk of Alzheimer’s disease, heart failure, renal dysfunction, and other defects.  Hence insights into the genetic and epigenetic mechanisms contributing to CHD is very much needed to help elucidate the molecular mechanism driving not only the cardiovascular defects, but also the clinical sequela associated with CHD. Only with mechanistic insights gained will it be possible to develop evidence-based therapies to prevent or improve the long term outcomes of CHD patients surviving their critical structural heart defects.

Prof. Dr. Cecilia Lo
Dr. Patrick Jay
Guest Editors

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