{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:22:59Z","timestamp":1790688179866,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T00:00:00Z","timestamp":1613952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p><jats:italic>LMNA<\/jats:italic> variants have been previously associated with cardiac abnormalities independent of lipodystrophy. We aimed to assess cardiac impact of familial partial lipodystrophy (FPLD) to understand the role of laminopathy in cardiac manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study design<\/jats:title><jats:p>Retrospective cohort study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data from 122 patients (age range: 13\u201377, 101 females) with FPLD were analysed. Mature human induced pluripotent stem cell\u2010derived cardiomyocytes (hiPSC\u2010CMs) from a patient with an <jats:italic>LMNA<\/jats:italic> variant were studied as proof\u2010of\u2010concept for future studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Subjects with <jats:italic>LMNA<\/jats:italic> variants had a higher prevalence of overall cardiac events than others. The likelihood of having an arrhythmia was significantly higher in patients with <jats:italic>LMNA<\/jats:italic> variants (OR: 3.77, 95% CI: 1.45\u20139.83). These patients were at higher risk for atrial fibrillation or flutter (OR: 5.78, 95% CI: 1.04\u201332.16). The time to the first arrhythmia was significantly shorter in the <jats:italic>LMNA<\/jats:italic> group, with a higher HR of 3.52 (95% CI: 1.34\u20139.27). Non\u2010codon 482 <jats:italic>LMNA<\/jats:italic> variants were more likely to be associated with cardiac events (vs. 482 <jats:italic>LMNA<\/jats:italic>: OR: 4.74, 95% CI: 1.41\u201315.98 for arrhythmia; OR: 17.67, 95% CI: 2.45\u2013127.68 for atrial fibrillation or flutter; OR: 5.71, 95% CI: 1.37\u201323.76 for conduction disease). <jats:italic>LMNA<\/jats:italic> mutant hiPSC\u2010CMs showed a higher frequency of spontaneous activity and shorter action potential duration. Functional syncytia of hiPSC\u2010CMs displayed several rhythm alterations such as early afterdepolarizations, spontaneous quiescence and spontaneous tachyarrhythmia, and significantly slower recovery in chronotropic changes induced by isoproterenol exposure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results highlight the need for vigilant cardiac monitoring in FPLD, especially in patients with <jats:italic>LMNA<\/jats:italic> variants who have an increased risk of developing cardiac arrhythmias. In addition, hiPSC\u2010CMs can be studied to understand the basic mechanisms for the arrhythmias in patients with lipodystrophy to understand the impact of specific mutations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14426","type":"journal-article","created":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T13:33:57Z","timestamp":1611754437000},"page":"1043-1053","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Cardiac phenotype in familial partial lipodystrophy"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2042-8878","authenticated-orcid":false,"given":"Abdelwahab Jalal","family":"Eldin","sequence":"first","affiliation":[{"name":"Division of Metabolism, Endocrinology and Diabetes (MEND) Department of Internal Medicine Michigan Medicine University of Michigan Ann Arbor MI 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