AUTHOR=Silva Cunha Pedro , Antunes Diana Oliveira , Laranjo Sérgio , Coutinho Ana , Abecasis João , Oliveira Mário Martins 

TITLE=Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2023.1149717

DOI=10.3389/fcvm.2023.1149717

ISSN=2297-055X

ABSTRACT=<p>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 <italic>NPPA</italic> gene in the index case and the presence of the variant in heterozygosity in both parents.</p>