Case Report: Mutation in Gene As a Cause of Fibrotic Atrial Myopathy

Overview

Journal Front Cardiovasc Med

Specialty Cardiology & Vascular Diseases

Date 2023 Jun 26

PMID 37363091

Authors

Pedro Silva Cunha

Diana Oliveira Antunes

Sergio Laranjo

Ana Coutinho

Joao Abecasis

Mario Martins Oliveira

Affiliations

Soon will be listed here.

Abstract

Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the gene in the index case and the presence of the variant in heterozygosity in both parents.

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