80 GENETIC MYOCARDITIS: ADVANCED WORKUP AND TREATMENT. (15th December 2022)

• Record Type: Journal Article
• Authors: Peretto, Giovanni; De Luca, Giacomo; Villatore, Andrea; Sala, Simone; Di Resta, Chiara; Palmisano, Anna; Vignale, Davide; Campochiaro, Corrado; De Gaspari, Monica; Rizzo, Stefania; Busnardo, Elena; Ferro, Paola; Gianolli, Luigi; Benedetti, Sara; Basso, Cristina; Dagna, Lorenzo; Esposito, Antonio; Della Bella, Paolo
• Is Part Of: European heart journal supplements. Volume 24(2022)Supplement K
• Publication Date: 2022-12-15
• Subjects: Cardiology -- Periodicals; Cardiology -- Europe -- Periodicals; 616.12005
• DOI: 10.1093/eurheartjsupp/suac121.664
• Languages: English
• ISSNs: 1520-765X

Abstract

Abstract: Background: Preclinical data support the rationale for targeting myocardial inflammation in genetic nonischemic cardiomyopathies. However, no consistent clinical reports have been provided so far. Methods: We describe a series of patients (n=25) with genetic cardiomyopathy and active myocardial inflammation (AMI) proven by multimodal diagnostic workup. Patient-tailored immunosuppressive therapy was empirically started to target myocardial inflammation whenever feasible. Multiple outcomes were retrospectively assessed by a dedicated multidisciplinary disease unit. Results: Patients carrying desmosomal (DGV), cytoskeletal (CGV) and membrane gene variants (MGV), were 12 (48%), 10 (40%), and 3 (12%), respectively. DGV carriers uniformly presented with myocarditis-like chest pain and ventricular arrhythmias, whereas heart failure symptoms were found only in CGV carriers. Dilated cardiomyopathy phenotype and ring-like pattern on cardiac magnetic resonance allowed the best discrimination among genotypes. AMI was proven by endomyocardial biopsy in all cases, and by noninvasive imaging in 21 (83%). IST was started in 17 patients (71%) with no safety issues. By the end of follow-up (median 69 months, range 21-182), signs of AMI were documented in 6/18 IST receivers (33%) and 4/7 untreated cases (57%). For most genotypes, paucity of adverse events was noted while on immunosuppression as compared to the off-treatment period. Conclusion: Our preliminary data provide the clinical rationale for the research and targeting of AMI in a spectrum of genetic nonischemic cardiomyopathies.