{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:50:57Z","timestamp":1753890657000,"version":"3.41.2"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T00:00:00Z","timestamp":1618790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>Familial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases of FPLD2 and cardiomyopathy have been reported in the literature. These were all due to amino-terminal heterozygous lamin A\/C mutations, which are considered as new forms of overlapping syndromes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Here we report the identification of a female patient with FPLD2 due to a heterozygous missense variant c.604G&amp;gt;A in the exon 3 of the <jats:italic>LMNA<\/jats:italic> gene, leading to amino acid substitution\u00a0(p.Glu202Lys) in the central alpha-helical rod domain of lamin A\/C with a high propensity to form coiled-coil dimers. The patient\u2019s cardiac evaluations that followed the genetic diagnosis revealed cardiac rhythm disturbances which were promptly treated pharmacologically.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This report supports the idea that there are \u201catypical forms\u201d of FPLD2 with cardiomyopathy, especially when a pathogenic variant affects the lamin A\/C head or alpha-helical rod domain. It also highlights how increased understanding of the genotype-phenotype correlation could help clinicians to schedule personalized monitoring of the lipodystrophic patient, in order to prevent uncommon but possible devastating manifestations, including arrhythmias and sudden death.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.675096","type":"journal-article","created":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T17:02:21Z","timestamp":1618851741000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A\/C"],"prefix":"10.3389","volume":"12","author":[{"given":"Carolina","family":"Cecchetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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