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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 <jats:italic>NPPA<\/jats:italic> gene in the index case and the presence of the variant in heterozygosity in both parents.<\/jats:p>","DOI":"10.3389\/fcvm.2023.1149717","type":"journal-article","created":{"date-parts":[[2023,6,8]],"date-time":"2023-06-08T05:04:31Z","timestamp":1686200671000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy"],"prefix":"10.3389","volume":"10","author":[{"given":"Pedro","family":"Silva Cunha","sequence":"first","affiliation":[]},{"given":"Diana Oliveira","family":"Antunes","sequence":"additional","affiliation":[]},{"given":"S\u00e9rgio","family":"Laranjo","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Coutinho","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o","family":"Abecasis","sequence":"additional","affiliation":[]},{"given":"M\u00e1rio Martins","family":"Oliveira","sequence":"additional","affiliation":[]}],"member":"1965","published-online":{"date-parts":[[2023,6,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1056\/NEJMoa2019422","article-title":"Breithardt G; EAST-AFNET 4 trial investigators. 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