{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T19:00:36Z","timestamp":1787857236685,"version":"build-2784847793"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Deficiency of adipose triglyceride lipase (ATGL) due to mutation in <jats:italic>PNPLA2<\/jats:italic> causes neutral lipid storage disease with myopathy (NLSDM), an autosomal recessive disorder (MIM: #610717). NLSDM patients are mainly affected by progressive myopathy, cardiomyopathy, and hepatomegaly. Cardiac involvement was reported in 40%\u201350% of NLSDM patients. Patients with cardiac involvement have adult-onset progressive heart failure, mimicking dilated or hypertrophic cardiomyopathy. The clinical characteristics, genotype\u2013phenotype correlation, and prognosis of cardiomyopathy secondary to <jats:italic>PNPLA2<\/jats:italic> mutation are not understood. We reported two male patients carrying a homozygous splicing mutation NM_020376.4 (c.757 + 1G&amp;gt;T) in <jats:italic>PNPLA2,<\/jats:italic> presenting with severe dilated cardiomyopathy and mild skeletal muscle involvement. Through the literature review, the ECG and imaging features and the prognosis of 49 previously reported cases of cardiomyopathy caused by the <jats:italic>PNPLA2<\/jats:italic> mutation were summarized. This study suggests that NLSDM should be considered a cause of cardiomyopathy, especially in those with elevated creatine kinase (CK) levels, regardless of whether symptoms such as muscle weakness or atrophy are present.<\/jats:p>","DOI":"10.3389\/fgene.2024.1415156","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T05:03:43Z","timestamp":1721883823000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review"],"prefix":"10.3389","volume":"15","author":[{"given":"Shuai","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sha","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daoquan","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,7,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"856","DOI":"10.1002\/mus.20869","article-title":"Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy","volume":"36","author":"Akiyama","year":"2007","journal-title":"Muscle Nerve"},{"key":"B2","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1016\/j.bbrc.2008.10.081","article-title":"Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy","volume":"377","author":"Campagna","year":"2008","journal-title":"Biochem. 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