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

Silva Cunha, PAntunes, DLaranjo, SCoutinho, AAbecasis, JOliveira, MM2023-12-052023-12-052023Front Cardiovasc Med . 2023 Jun 8:10:1149717.http://hdl.handle.net/10400.17/4758Early-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.engHSM CARNPPA GeneAtrial FibrillationAtrial MyopathyFibrosisMutation Genetics.Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathyjournal article10.3389/fcvm.2023.1149717