NPPA-Associated Atrial Dilated Cardiomyopathy: Genotypic and Phenotypic Insights From an Ultrarare Inherited Disorder.

ABSTRACT:

Background

Atrial standstill is a rare arrhythmogenic disorder characterized by complete atrial electrical and mechanical inactivity. We report the 15th documented case of atrial dilated cardiomyopathy associated with the homozygous c.449G>A (p.Arg150Gln) NPPA mutation.

Case summary

A 31-year-old woman presented with persistent atrial fibrillation, biatrial enlargement, and junctional rhythm. Electrophysiological studies confirmed atrial inexcitability. Despite preserved ventricular function, she required permanent His-bundle pacing. Genetic testing later revealed a homozygous NPPA mutation, whereas heterozygous family members remained asymptomatic.

Discussion

This case highlights the diagnostic value of genetic testing in young patients with atrial fibrillation and n

SUBMITTER: Forleo C 

PROVIDER: S-EPMC12539495 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature