{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T20:00:15Z","timestamp":1789070415590,"version":"build-2803163510"},"reference-count":49,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T00:00:00Z","timestamp":1562716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy with a prevalence of about 1:200. It is characterized by left ventricular hypertrophy, diastolic dysfunction and interstitial fibrosis; HCM might lead to sudden cardiac death (SCD) especially in the young.<\/jats:p><jats:p>Due to low autopsy frequencies of sudden unexplained deaths (SUD) the true prevalence of SCD and especially of HCM among SUD remains unclear. Even in cases of proven SCD genetic testing is not a routine procedure precluding appropriate risk stratification and counseling of relatives.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here we report a case of SCD in a 19\u2010year\u2010old investigated by combined forensic and molecular autopsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>During autopsy of the index\u2010patient HCM was detected. As no other possible cause of death could be uncovered by forensic autopsy the event was classified as SCD. Molecular autopsy identified two (probably) pathogenic genetic variants in <jats:italic>FHL1<\/jats:italic> and <jats:italic>MYBPC3<\/jats:italic>. The <jats:italic>MYBPC3<\/jats:italic> variant had an incomplete penetrance. The <jats:italic>FHL1<\/jats:italic> variant was a de novo mutation. We detected reduced <jats:italic>FHL1<\/jats:italic> mRNA levels and no FHL1 protein in muscle samples suggesting nonsense\u2010mediated mRNA decay and\/or degradation of the truncated protein in the SCD victim revealing a plausible disease mechanism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The identification of the genetic cause of the SCD contributed to the rational counseling of the relatives and risk assessment within the family. Furthermore our study revealed evidences for the pathomechanism of <jats:italic>FHL1<\/jats:italic> mutations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.841","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T05:11:15Z","timestamp":1562821875000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of <i>FHL1<\/i> related hypertrophic cardiomyopathy"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-7693","authenticated-orcid":false,"given":"Anna","family":"Gaertner\u2010Rommel","sequence":"first","affiliation":[{"name":"Klinikum der Ruhr\u2010Universit\u00e4t Bochum, Klinik f\u00fcr Thorax\u2010 und Kardiovaskularchirurgie und Erich und Hanna Klessmann\u2010Institut f\u00fcr Kardiovaskul\u00e4re Forschung und Entwicklung Herz\u2010 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