{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T06:59:04Z","timestamp":1782543544542,"version":"3.54.5"},"reference-count":5,"publisher":"SMC Media","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"A 60-year-old man, with a history of familial lipodystrophy, hypertriglyceridaemia, hepatic steatosis and bone cysts, was admitted due an acute coronary event. Coronary angiography showed significant stenosis in the left anterior descending artery, which was treated. Transthoracic echocardiography showed a slightly dilated left ventricle with diffuse and heterogeneous thickening of its walls, slightly decreased left ventricular function and reduced global longitudinal strain. Due to these echocardiographic findings, cardiac magnetic resonance imaging was requested, which identified intramyocardial diffuse fibrosis of the basal septum and points of insertion of the left and right ventricles, without oedema, microvascular obstruction or myocardial infarction. Owing to the constellation of symptoms and distinctive features on cardiac imaging, a diagnosis of Berardinelli-Seip congenital lipodystrophy (BSCL) was suspected, which was confirmed through genetic testing of the pathogenic variants in BSCL2 and AGPAT2. BSCL is a rare autosomal recessive syndrome characterized by the congenital absence of adipose tissue and triglyceride deposition in other tissues, such as muscle, liver and heart.\u00a0<\/jats:p>","DOI":"10.12890\/2022_003658","type":"journal-article","created":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T03:25:42Z","timestamp":1670988342000},"source":"Crossref","is-referenced-by-count":1,"title":["Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event"],"prefix":"10.12890","volume":"9","author":[{"given":"Francisca","family":"Beires","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Hospital Pedro Hispano, Senhora da Hora, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena Greenfield","family":"Helena Greenfield","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Hospital Pedro Hispano, Senhora da Hora, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Brito da Silva","family":"Jos\u00e9 Brito da Silva","sequence":"first","affiliation":[{"name":"Department of Medical Oncology, Instituto Portugu\u00eas de Oncologia do Porto FG, EPE, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Gil","family":"Jo\u00e3o Gil","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Hospital Pedro Hispano, Senhora da Hora, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuno Moreno","family":"Nuno Moreno","sequence":"first","affiliation":[{"name":"Department of Cardiology, Hospital Pedro Hispano, Senhora da Hora, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2022,12,14]]},"reference":[{"key":"10.12890\/2022_003658_ref1","doi-asserted-by":"crossref","unstructured":"
  • Alzu'bi AA, Al-Sarihin KK, Eteiwi S, Al-Asaad RA, Al Eyadah AA, Khreisat M, et al. Berardinelli-Seip syndrome and essential thrombocytosis: an unusual association. Oman Med J<\/em> 2020;35<\/strong>(3):e135. doi: 10.5001\/omj.2020.53 <\/li>","DOI":"10.5001\/omj.2020.53"},{"key":"10.12890\/2022_003658_ref2","unstructured":"
  • Van Maldergem L. Berardinelli-Seip congenital lipodystrophy. GeneReviews 8 September 2003 (updated 8 December 2016). <\/li>"},{"key":"10.12890\/2022_003658_ref3","doi-asserted-by":"crossref","unstructured":"
  • Araujo-Vilar D, S\u00e1nchez-Iglesias S, Guill\u00edn-Amarelle C, Castro A, Lage M, Pazos M, et al. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience. Endocrine<\/em> 2015;49<\/strong>:139\u2013147. https:\/\/doi.org\/10.1007\/s12020-014-0450-4 <\/li>","DOI":"10.1007\/s12020-014-0450-4"},{"key":"10.12890\/2022_003658_ref4","doi-asserted-by":"crossref","unstructured":"
  • Vi\u00e9gas RF, Diniz RV, Vi\u00e9gas TM, Lira EB, Almeida DR. Cardiac involvement in total generalized lipodystrophy (Berardinelli-Seip syndrome). Arq Bras Cardiol<\/em> 2000;75<\/strong>(3):243\u2013248. <\/li>","DOI":"10.1590\/S0066-782X2000000900006"},{"key":"10.12890\/2022_003658_ref5","unstructured":"
  • Romano MMD, Chacon PAI, Ramalho FNZ, Foss MC, Schmidt A. Cardiac alterations in patients with familial lipodystrophy. Arq Bras Cardiol<\/em> 2020;114<\/strong>(2):305\u2013312. <\/li>"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3658\/3312","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3658\/3313","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3658\/3313","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T13:37:52Z","timestamp":1755783472000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/3658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,14]]},"references-count":5,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.12890\/2022_003658","relation":{"has-manifestation":[{"id-type":"other","id":"1-93-3658-g3312","asserted-by":"subject"},{"id-type":"other","id":"1-93-3658-g3313","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-93","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,14]]}}}