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Article

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.

JACC. Clinical electrophysiology - 1 Jun 2024

Bermudez-Jimenez Francisco J, Protonotarios Alexandros, García-Hernández Soledad, Pérez Asensio Ana, Rampazzo Alessandra, Zorio Esther, Brodehl Andreas, Arias Miguel A, Macías-Ruiz Rosa, Fernández-Armenta Juan, Remior Perez Paloma, Muñoz-Esparza Carmen, Pilichou Kalliopi, Bauce Barbara, Merino Jose L, Moliner-Abós Carlos, Ochoa Juan P, Barriales-Villa Roberto, Garcia-Pavia Pablo, Lopes Luis R, Syrris Petros, Corrado Domenico, Elliott Perry M, McKenna William J, Jimenez-Jaimez Juan

Abstract excerpt

BACKGROUND: Desmin (DES) pathogenic variants cause a small proportion of arrhythmogenic cardiomyopathy (ACM). Outcomes data on DES-related ACM are scarce. OBJECTIVES: This study sought to provide information on the clinical phenotype and outcomes of patients with ACM caused by pathogenic variants of the DES gene in a multicenter cohort. METHODS: We collected phenotypic and outcomes data from 16 families with...

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Identifiers

PMID: 38727660
DOI: 10.1016/j.jacep.2024.02.031

Genes

DES
SCD
LMNA
FLNC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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