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Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation.

Genes - 20 May 2020

Persampieri Simone, Pilato Chiara Assunta, Sommariva Elena, Maione Angela Serena, Stadiotti Ilaria, Ranalletta Antonio, Torchio Margherita, Dello Russo Antonio, Basso Cristina, Pompilio Giulio, Tondo Claudio, Casella Michela

Abstract excerpt

Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural alterations are frequently reported, mainly in the early phases of the disease. Recently, the PKP2 p.S183N mutation was found in a patient...

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Identifiers

PMID: 32443836
DOI: 10.3390/genes11050571
PMCID: PMC7288341

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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