Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction

Background: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder with an estimated prevalence between 1:2,000 and 1:5,000 and is characterized by the fibrofatty replacement of cardiomyocytes that predisposes to malignant arrhythmias, heart failure, and sudden cardiac death. The diagnosis is bas...

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Detalles Bibliográficos
Autores principales: Leone, Maria Pia, Palumbo, Pietro, Saenen, Johan, Mastroianno, Sandra, Castellana, Stefano, Amico, Cesare, Mazza, Tommaso, Potenza, Domenico Rosario, Petracca, Antonio, Castori, Marco, Carella, Massimo, Di Stolfo, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173114/
https://www.ncbi.nlm.nih.gov/pubmed/34095246
http://dx.doi.org/10.3389/fcvm.2021.635141

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