Somatic Mutations in Cardiovascular Disease. Issue 1 (7th January 2022)

• Record Type: Journal Article
• Authors: Heimlich, J. Brett; Bick, Alexander G.
• Is Part Of: Circulation research. Volume 130:Issue 1(2022)
• Publication Date: 2022-01-07
• Subjects: cardiovascular diseases -- clonal hematopoiesis -- coronary artery disease -- genomics -- mutation; Cardiovascular system -- Periodicals; Blood -- Circulation -- Periodicals; Blood Circulation; Cardiovascular System; Vascular Diseases; Sang -- Circulation -- Périodiques; Appareil cardiovasculaire -- Périodiques; 612.1
• DOI: 10.1161/CIRCRESAHA.121.319809
• Languages: English
• ISSNs: 0009-7330

Abstract

Abstract : 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.