The role of genetic testing in suspected fulminant myocarditis: A case report.
Acute myocarditis
Arrhythmogenic cardiomyopathy
Biopsy
Genetics
PKP2
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
09
06
2023
revised:
12
08
2023
accepted:
13
08
2023
medline:
4
9
2023
pubmed:
4
9
2023
entrez:
4
9
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 37662494
doi: 10.1016/j.ymgmr.2023.101000
pii: S2214-4269(23)00046-0
pmc: PMC10470308
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101000Informations de copyright
© 2023 The Authors. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
None.
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