Multimodal Detection and Targeting of Biopsy-Proven Myocardial Inflammation in Genetic Cardiomyopathies: A Pilot Report

JACC Basic Transl Sci. 2023 Jul 5;8(7):755-765. doi: 10.1016/j.jacbts.2023.02.018. eCollection 2023 Jul.

Abstract

The authors present a clinical report focused on the overlap between myocarditis and genetic cardiomyopathies of the dilated and arrhythmogenic spectrum. Our cohort was composed of 25 patients undergoing extensive baseline characterization and prospective reassessment by a dedicated multidisciplinary disease unit during a median follow-up of 69 months. We showed that the use of multimodal imaging allowed both discrimination of specific genotypes and identification of myocardial inflammation proven using endomyocardial biopsy. In addition, we showed that the use of immunomodulatory therapy was beneficial for most patients.

Keywords: cardiomyopathy; desmosomal gene variants; endomyocardial biopsy; genetics; immunosuppressive therapy; multimodal imaging; myocardial inflammation.