{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T20:51:26Z","timestamp":1785358286025,"version":"3.55.0"},"reference-count":6,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:00:00Z","timestamp":1767916800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Background: Atrial dilated cardiomyopathy (ADCM) related to homozygous Natriuretic Peptide Precursor A (NPPA) pathogenic variants is an exceptionally rare inherited atrial cardiomyopathy characterized by progressive atrial enlargement, supraventricular arrhythmias, and eventual atrial standstill. Case summary: We report the case of a 9-year-old girl identified through population genetic screening as a homozygous carrier of the NPPA c.449G&gt;A (p.Arg150Gln) variant who subsequently developed symptomatic paroxysmal atrial fibrillation (AF) at the age of 18. Although baseline cardiac investigations were normal, her current evaluation shows biatrial enlargement with preserved ventricular function. She underwent radiofrequency pulmonary vein isolation; however, recurrent symptomatic AF persists, requiring ongoing antiarrhythmic therapy and long-term oral anticoagulation (CHA2DS2-VA: 0; HAS-BLED: 0). Notably, patients with NPPA-related ADCM have a markedly increased thromboembolic risk due to progressive atrial mechanical failure, and anticoagulation should therefore be considered irrespective of conventional clinical risk scores. Discussion and conclusions: This case highlights the importance of genetic testing in young patients with atrial fibrillation and no underlying structural heart disease. The early identification of NPPA-related atrial dilated cardiomyopathy may aid in risk stratification and guide rhythm and anticoagulation management. Expanding genetic screening in select individuals with isolated atrial fibrillation may facilitate earlier diagnosis in this exceptionally rare condition.<\/jats:p>","DOI":"10.3390\/jcdd13010037","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T08:09:06Z","timestamp":1767946146000},"page":"37","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Autosomal Recessive Atrial Dilated Cardiomyopathy Due to NPPA Mutation in a Young Patient"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9388-3292","authenticated-orcid":false,"given":"Massimiliano","family":"Marini","sequence":"first","affiliation":[{"name":"Department of Cardiology, Santa Chiara Hospital, 38122 Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9721-9755","authenticated-orcid":false,"given":"Manuela","family":"Iseppi","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Santa Chiara Hospital, 38122 Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7939-1311","authenticated-orcid":false,"given":"Silvia","family":"Quintarelli","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Santa Chiara Hospital, 38122 Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Tedoldi","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Santa Chiara Hospital, 38122 Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6819-3668","authenticated-orcid":false,"given":"Flavia","family":"Ravelli","sequence":"additional","affiliation":[{"name":"Laboratory of Biophysics and Translational Cardiology, Department of Cellular, Computational and Integrative Biology (CIBIO), Centre for Medical Sciences (CISMed), University of Trento, 38123 Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7882-0709","authenticated-orcid":false,"given":"Roberto","family":"Bonmassari","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Santa Chiara Hospital, 38122 Trento, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eloisa","family":"Arbustini","sequence":"additional","affiliation":[{"name":"Department of Research, Centre for Inherited Cardiovascular Disease, IRCCS Foundation, University Hospital Policlinico San Matteo, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,9]]},"reference":[{"key":"ref_1","first-page":"681","article-title":"Atrial standstill: A paralysis of cardiological relevance","volume":"5","author":"Marini","year":"2004","journal-title":"Ital. Heart J. Suppl."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1161\/CIRCGENETICS.112.963520","article-title":"Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of natriuretic peptide precursor A","volume":"6","author":"Disertori","year":"2013","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"105141","DOI":"10.1016\/j.jaccas.2025.105141","article-title":"NPPA-Associated Atrial Dilated Cardiomyopathy: Genotypic and Phenotypic Insights From an Ultrarare Inherited Disorder","volume":"30","author":"Forleo","year":"2025","journal-title":"JACC Case Rep."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Silva, P.S., Antunes, D.O., Laranjo, S., Coutinho, A., Abecasis, J., and Oliveira, M.M. (2023). Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy. Front. Cardiovasc. Med., 10.","DOI":"10.3389\/fcvm.2023.1149717"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1093\/oxfordjournals.eurheartj.a061473","article-title":"Familial endemic persistent atrial standstill in a small mountain community: Review of eight cases","volume":"4","author":"Disertori","year":"1983","journal-title":"Eur. Heart J."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Carella, M.C., Dicorato, M.M., Santobuono, V.E., Dentamaro, I., Basile, P., Piccolo, S., Labellarte, A., Latorre, M.D., Urgesi, E., and Pontone, G. (2025). Atrial Dilated Cardiomyopathy: From Molecular Pathogenesis to Clinical Implications. J. Clin. Med., 14.","DOI":"10.3390\/jcm14248773"}],"container-title":["Journal of Cardiovascular Development and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2308-3425\/13\/1\/37\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T08:28:46Z","timestamp":1767947326000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2308-3425\/13\/1\/37"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,9]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["jcdd13010037"],"URL":"https:\/\/doi.org\/10.3390\/jcdd13010037","relation":{},"ISSN":["2308-3425"],"issn-type":[{"value":"2308-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,9]]}}}