ArticleJACC. Case reports2025
NPPA-Associated Atrial Dilated Cardiomyopathy: Genotypic and Phenotypic Insights From an Ultrarare Inherited Disorder.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The natural history of autosomal recessive atrial dilated cardiomyopathy associated with mutation of natriuretic peptide precursor A.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- Autosomal Recessive Atrial Dilated Cardiomyopathy Due toJournal of cardiovascular development and disease · 2026Article
- Atrial Dilated Cardiomyopathy: From Molecular Pathogenesis to Clinical Implications.Journal of clinical medicine · 2025Review
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Authors and funding
10 authors.
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Abstract
backgroundAtrial 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 no structural heart disease. Early recognition of NPPA-related atrial dilated cardiomyopathy may guide arrhythmia management and anticoagulation strategies, reducing thromboembolic risk. TAKE-HOME MESSAGE: Broader implementation of genetic screening in selected individuals with isolated atrial dysfunction may support earlier diagnosis, personalized treatment, and better outcomes in this ultrarare condition.
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