{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:48:44Z","timestamp":1762508924006,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T00:00:00Z","timestamp":1671580800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cutis laxa (CL) is a rare, inherited or acquired connective tissue disorder characterized by abnormal elastic fibers causing loose and redundant skin and a prematurely aged appearance. The syndrome has been associated with hypertension, but cases with early\u2010onset ischemic heart disease have never been described. Here, we report a 21\u2010year\u2010old Danish female with activity\u2010related shortness of breath and oedema of the lower extremities. The patient had a clinical diagnosis of autosomal dominant CL, but no genotyping had been performed prior to the index admission. The patient was diagnosed with ischemic heart disease, based on results of non\u2010invasive cardiovascular imaging (including MRI and PET\u2010CT) followed by invasive treatment of a critical left main coronary artery stenosis. Subsequent referral to genetic testing revealed a likely pathogenic intronic variant in <jats:italic>ELN<\/jats:italic>. This case report includes the clinical findings and relates these to known molecular mechanisms of CL.<\/jats:p>","DOI":"10.1002\/ajmg.a.63095","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T15:20:15Z","timestamp":1671636015000},"page":"1059-1064","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21\u2010year\u2010old female with an intronic mutation in the elastin gene"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6526-8663","authenticated-orcid":false,"given":"Nikolaj Thure","family":"Krarup","sequence":"first","affiliation":[{"name":"Department of Cardiology Viborg Regional Hospital  Viborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Hvidbjerg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aalborg University Hospital  Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e1s","family":"Zaremba","sequence":"additional","affiliation":[{"name":"Department of Cardiology Aalborg University Hospital  Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mette","family":"Sommerlund","sequence":"additional","affiliation":[{"name":"Department of Dermatology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin Kirk","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Cardiology Aalborg University Hospital  Aalborg Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.01.004"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.pmbts.2017.04.001"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00087.2018"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35784"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.08.001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000331278"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.1985.248.5.H658"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1998.02210.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2010.06.005"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(83)80529-0"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.111.025056"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.327940"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12784"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.apha.2017.08.002"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.2.981"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63095","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63095","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63095","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T23:04:26Z","timestamp":1692399866000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,21]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1002\/ajmg.a.63095"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63095","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2022,12,21]]},"assertion":[{"value":"2022-06-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}