J. Brett Heimlich Alexander G. Bick Division of Cardiovascular Medicine (J.B.H.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. Division of Genetic Medicine (A.G.B.), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN.

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Jan 7, 2022
Circulation research
DOI :
10.1161/circresaha.121.319809
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Circulation Research, Volume 130, Issue 1, Page 149 161, January 7, 2022. Advances in population scale genomic sequencing have greatly expanded the understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these genomic datasets identified an unexpected risk factor for CVD, somatically acquired DNA mutations. In this review, we provide an overview of somatic mutations and their contributions to CVD. We focus on the most common and well described manifestation, clonal hematopoiesis of indeterminate potential. We also review the currently available data regarding how somatic mutations lead to tissue mosaicism in various forms of CVD, including atrial fibrillation and aortic aneurism associated with Marfan Syndrome. Finally, we highlight future research directions given current knowledge gaps and consider how technological advances will enhance the discovery of somatic mutations in CVD and management of patients with somatic mutations.

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