{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T15:02:23Z","timestamp":1788447743959,"version":"build-2803163510"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms\u2010 and dissections, which may be associated with aortic valve disease. Mitral\u2010 and tricuspid valve prolapse are other commonly recognized features. Myocardial disease, characterized by heart failure and\/or malignant arrhythmias has been reported in humans and in animal models harboring pathogenic variants in the<jats:italic>Fibrillin1<\/jats:italic>gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Description of clinical history of three cases from one family in Ghent (Belgium) and one family in St. Louis (<jats:styled-content style=\"fixed-case\">US<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report on three cases from two families presenting end\u2010stage heart failure (in two) and lethal arrhythmias associated with moderate left ventricular dilatation (in one). All three cases harbor a pathogenic variant in the<jats:italic><jats:styled-content style=\"fixed-case\">SMAD<\/jats:styled-content>3<\/jats:italic>gene, known to cause aneurysm osteoarthritis syndrome, Loeys\u2010Dietz syndrome type 3 or isolated Heritable Thoracic Aortic Disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These unusual presentations warrant awareness for myocardial disease in patients harboring pathogenic variants in genes causing Heritable Thoracic Aortic Disease and indicate the need for prospective studies in larger cohorts.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.396","type":"journal-article","created":{"date-parts":[[2018,5,2]],"date-time":"2018-05-02T04:21:42Z","timestamp":1525234902000},"page":"648-652","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the<i><scp>SMAD<\/scp>3<\/i>gene"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8878-1507","authenticated-orcid":false,"given":"Julie De","family":"Backer","sequence":"first","affiliation":[{"name":"Department of Cardiology and Center for Medical Genetics Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan C.","family":"Braverman","sequence":"additional","affiliation":[{"name":"Cardiovascular Division Department of Medicine Washington University School of Medicine Saint Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.033"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurjhf\/hfq127"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2015-211138","article-title":"Type B aortic dissection triggered by heart transplantation in a patient with Marfan syndrome","volume":"2015","author":"Audenaert T.","year":"2015","journal-title":"BMJ Case Reports"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.110"},{"issue":"3","key":"e_1_2_7_6_1","first-page":"273","article-title":"Ventricular dysrhythmias in children with Marfan's syndrome","volume":"139","author":"Chen S.","year":"1985","journal-title":"American Journal of Diseases of Children"},{"issue":"3","key":"e_1_2_7_7_1","first-page":"1329","article-title":"Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome","volume":"124","author":"Cook J. 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