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

Authors :: Silva Cunha P
Antunes DO
Laranjo S
Coutinho A
Abecasis J
Oliveira MM
Source :: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2023 Jun 08; Vol. 10, pp. 1149717. Date of Electronic Publication: 2023 Jun 08 (Print Publication: 2023).
Publication Year :: 2023
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 NPPA gene in the index case and the presence of the variant in heterozygosity in both parents.<br />Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.<br /> (© 2023 Silva Cunha, Antunes, Laranjo, Coutinho, Abecasis and Oliveira.)