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The role of genetic testing in suspected fulminant myocarditis: A case report

Authors :
Raffaella Mistrulli
Caterina Micolonghi
Federico Follesa
Marco Fabiani
Erika Pagannone
Giulia D'Amati
Carla Giordano
Silvia Caroselli
Camilla Savio
Aldo Germani
Antonio Pizzuti
Vincenzo Visco
Simona Petrucci
Speranza Rubattu
Maria Piane
Camillo Autore
Source :
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101000- (2023)
Publication Year :
2023
Publisher :
Elsevier, 2023.

Abstract

ACM is a rare hereditary heart disease characterized by a progressive fibro-fatty replacement of the myocardium that can affect either the right or the left ventricle or both. It is mainly caused by variants in the desmosome genes with autosomal dominant transmission and incomplete penetrance. The disease shows a wide spectrum of clinical manifestations, including ventricular arrhythmias, HF and myocarditis. The latter is considered a ‘hot phase’ in the natural history of the disease and must therefore be distinguished from the isolated AM, which is frequently due to viral infections. Our case report is an example of how an AM, as the first manifestation of the disease, helped to reach a diagnosis of ACM through the genetic analysis. In fact, the multi-parametric investigation, which also included CMR and EMB, revealed controversial aspects that led us to perform the genetic test. The latter revealed a heterozygous pathogenic variant in the PKP2 that was considered definitive proof of ACM.

Details

Language :
English
ISSN :
22144269
Volume :
37
Issue :
101000-
Database :
Directory of Open Access Journals
Journal :
Molecular Genetics and Metabolism Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.1570d952ccfc4e99adcd87a46f53fd2b
Document Type :
article
Full Text :
https://doi.org/10.1016/j.ymgmr.2023.101000