{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:47:19Z","timestamp":1777369639720,"version":"3.51.4"},"reference-count":12,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p><jats:italic>Objectives<\/jats:italic>. Presence of a factor-V Leiden mutation in a patient with myotonic dystrophy type 1 (DM1) has been reported only once. Here we report the second DM1 patient carrying a factor-V mutation who died from long-term complications of this mutation.<jats:italic>Case Report<\/jats:italic>. A 66-year-old DM1 patient with multi-organ-disorder syndrome developed a first deep venous thrombosis (DVT) and consecutive pulmonary embolism (PE) at age 50\u2009y. Acetyl-salicylic acid was given. One year later he experienced a second DVT; that is why phenprocoumon was started. Despite anticoagulation, he experienced a third DVT bilaterally and a second PE bilaterally at 61\u2009y; that is why a vena cava filter was additionally deployed. Despite therapeutic anticoagulation, he experienced a vena cava filter thrombosis at age 62\u2009y. Genetic workup revealed a heterozygous factor-V mutation in addition to a CTG-repeat expansion of 500. As a consequence of PE he developed chronic obstructive pulmonary disease and experienced recurrent pulmonary infections, which were lastly responsible for decease at age 66\u2009y despite intensive care measures.<jats:italic>Conclusion<\/jats:italic>. The heterozygous Leiden mutation may severely affect DM1 patients to such a degree that they die from its complications. If DM1 patients present with unusual manifestations, search for causes other than a CTG-repeat expansion is indicated.<\/jats:p>","DOI":"10.1155\/2015\/271639","type":"journal-article","created":{"date-parts":[[2015,3,31]],"date-time":"2015-03-31T10:41:58Z","timestamp":1427798518000},"page":"1-4","source":"Crossref","is-referenced-by-count":2,"title":["Myotonic Dystrophy-1 Complicated by Factor-V (Leiden) Mutation"],"prefix":"10.1155","volume":"2015","author":[{"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[{"name":"Krankenanstalt Rudolfstiftung, 1030 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"St\u00f6llberger","sequence":"additional","affiliation":[{"name":"2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, 1030 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.1.112"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1177\/107602969900500308"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.02.002"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1186\/1476-7120-8-18"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6771-4"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.01.003"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.11.011"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20800"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22239"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2005.01.013"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1097\/nrl.0b013e3181c6bf05"},{"key":"12","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.ncl.2014.04.011","volume":"32","year":"2014","journal-title":"Neurologic Clinics"}],"container-title":["Case Reports in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2015\/271639.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2015\/271639.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2015\/271639.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T04:19:02Z","timestamp":1498191542000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crim\/2015\/271639\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":12,"alternative-id":["271639","271639"],"URL":"https:\/\/doi.org\/10.1155\/2015\/271639","relation":{},"ISSN":["1687-9627","1687-9635"],"issn-type":[{"value":"1687-9627","type":"print"},{"value":"1687-9635","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}