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

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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Bibliographic Details
Main Authors: Maria Pia Leone, Pietro Palumbo, Johan Saenen, Sandra Mastroianno, Stefano Castellana, Cesare Amico, Tommaso Mazza, Domenico Rosario Potenza, Antonio Petracca, Marco Castori, Massimo Carella, Giuseppe Di Stolfo
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
novel PKP2 mutation
arrhythmogenic cardiomyopathy
juvenile sudden death
molecular autopsy
sport restriction
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2021.635141/full

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https://www.frontiersin.org/articles/10.3389/fcvm.2021.635141/full

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