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

Pedro Silva Cunha; Diana Oliveira Antunes; Sérgio Laranjo; Ana Coutinho; João Abecasis; Mário Martins Oliveira

doi:10.3389/fcvm.2023.1149717

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

Front Cardiovasc Med. 2023 Jun 8:10:1149717. doi: 10.3389/fcvm.2023.1149717. eCollection 2023.

Authors

Pedro Silva Cunha^{1

2

3}, Diana Oliveira Antunes^{4

5}, Sérgio Laranjo^{1

6}, Ana Coutinho⁵, João Abecasis^{3

6}, Mário Martins Oliveira^{1

2}

Affiliations

¹ Arrhythmology, Pacing and Electrophysiology Unit, Cardiology Service, Santa Marta Hospital, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal.
² Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
³ Cardiovascular Department, Hospital Lusíadas Lisboa, Lisbon, Portugal.
⁴ Genetics Department, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal.
⁵ GenoMed Diagnóstico Medicina Molecular, Instituto de Medicina Molecular, Lisbon, Portugal.
⁶ NOVA Medical School, Universidade NOVA de Lisboa, Lisbon, Portugal.

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.

Keywords: NPPA gene; atrial fibrillation; atrial myopathy; fibrosis; mutation—genetics.

Publication types

Case Reports