Abstract
Purpose of Review
Genetic studies have identified an increasing number of culprit disease genes in patients with dilated cardiomyopathy (DCM). While these studies were originally conducted in patients with primary DCM, recent research has identified culprit mutations among patients who develop DCM in response to an environmental exposure. This review will summarize the genetic architecture of DCM secondary to alcohol, anthracyclines, and pregnancy, as well as the potential modifying role of exercise.
Recent Findings
Mutations in DCM-associated genes are identified in 10–20% of patients categorized as having a secondary cardiomyopathy, a similar frequency to patients with primary DCM. The most commonly mutated gene is TTN, which encodes the sarcomere protein titin. Clinical outcomes differ among patients with or without an identifiable mutation.
Summary
Genetic contributors should be sought in patients with presumed secondary cardiomyopathy. Future studies are necessary to determine the prospective management of previously unaffected patients known to have a DCM-associated mutation at the time of pregnancy or exposure to cardiotoxins.
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Peter Marstrand receives research support from The Danish Heart Foundation (Grant 17-R115-A7532-22065), The Elite Research Travel Grant from the Danish Ministry of Higher Education and Science, The FUKAP Foundation, Torben og Alice Frimodts Fond, Augustinus fonden and Knud Højgaards fond.
Neal K. Lakdawala serves as a consultant for Myokardia Inc. and Array BioPharma. He also receives unrestricted research support from the O’Hare Family Foundation for investigation of LMNA cardiomyopathy.
Kermshlise Picard declares no conflict of interest.
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Marstrand, P., Picard, K. & Lakdawala, N.K. Second Hits in Dilated Cardiomyopathy. Curr Cardiol Rep 22, 8 (2020). https://doi.org/10.1007/s11886-020-1260-3
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DOI: https://doi.org/10.1007/s11886-020-1260-3