EP News: Basic and Translational

  • Nipavan Chiamvimonvat
    Address reprint requests and correspondence: Dr Nipavan Chiamvimonvat, Department of Internal Medicine and Pharmacology, University of California, Davis, GBSF 6315, 451 Health Science Dr, Davis, CA 95616.
    Department of Internal Medicine and Pharmacology, University of California, Davis, Davis, California
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Published:October 18, 2022DOI:
      Lota et al (Circulation 2022;146:1123, PMID 36154167) investigated the frequency and clinical consequences of dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM) genetic variants in a population-based cohort of 336 consecutive patients with acute myocarditis since acute myocarditis is an inflammatory condition that may herald the onset of DCM or ACM. Variants that would be considered pathogenic were identified in 8% of myocarditis cases compared with <1% of healthy controls (P = .0097). In the London cohort, there was enrichment of rare truncating variants (tv) in ACM-associated genes, DSP-tv. In the Maastricht cohort, there was enrichment of rare tv in DCM-associated genes, particularly TTN-tv. Overall, the investigators identified DCM- or ACM-associated genetic variants in 8% of patients with acute myocarditis. This was dominated by the identification of DSP-tv in those with normal left ventricular ejection fraction (LVEF) and TTN-tv in those with reduced LVEF. The authors conclude that genetic testing and counseling should be considered in patients presenting with acute myocarditis to help reassure the majority while improving the management of those with underlying genetic variants.
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