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Seven (15%) had likely pathogenic variants in ion channelopathy genes [<jats:italic>KCNQ1<\/jats:italic> (1), <jats:italic>KCNH2<\/jats:italic> (4), <jats:italic>SCN5A<\/jats:italic> (1), <jats:italic>RyR2<\/jats:italic>(1)]. Fifty cases aged between 2 and 67 had a cardiomyopathy. Twenty\u2010five had arrhythmogenic right ventricular cardiomyopathy (<jats:styled-content style=\"fixed-case\">ARVC<\/jats:styled-content>), 10 dilated cardiomyopathy (<jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>) and 15 hypertrophic cardiomyopathy (<jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content>). Likely pathogenic variants were found in three <jats:styled-content style=\"fixed-case\">ARVC<\/jats:styled-content> cases (12%) in <jats:italic>PKP2<\/jats:italic>, <jats:italic>DSC2<\/jats:italic> or <jats:italic>DSP<\/jats:italic>, two <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content> cases (20%) in <jats:italic>MYH7<\/jats:italic>, and four <jats:styled-content style=\"fixed-case\">HCM<\/jats:styled-content> cases (27%) in <jats:italic>MYBPC3<\/jats:italic> (3) or <jats:italic>MYH7<\/jats:italic> (1). Uptake of cascade screening in relatives was higher when a molecular diagnosis was made at autopsy. In three families, variants previously published as pathogenic were detected, but clinical investigation revealed no abnormalities in carrier relatives. With a conservative approach to defining pathogenicity of sequence variants incorporating family phenotype information and population genomic data, a molecular diagnosis was made in 15% of sudden arrhythmic deaths and 18% of cardiomyopathy deaths.<\/jats:p>","DOI":"10.1111\/cge.12778","type":"journal-article","created":{"date-parts":[[2016,3,22]],"date-time":"2016-03-22T12:23:05Z","timestamp":1458649385000},"page":"22-29","source":"Crossref","is-referenced-by-count":32,"title":["Phenotype\u2010driven molecular autopsy for sudden cardiac death"],"prefix":"10.1111","volume":"91","author":[{"given":"F.","family":"Cann","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Ashgrove House  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Corbett","sequence":"additional","affiliation":[{"name":"Pathology Department University Medical Buildings  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"O'Sullivan","sequence":"additional","affiliation":[{"name":"North of Scotland Genetics Laboratory Polwarth Building  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Tennant","sequence":"additional","affiliation":[{"name":"North of Scotland Genetics Laboratory Polwarth Building  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hailey","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Ashgrove House  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.H.K.","family":"Grieve","sequence":"additional","affiliation":[{"name":"The Forensic Medicine Unit University Medical Buildings, Aberdeen University  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Broadhurst","sequence":"additional","affiliation":[{"name":"Cardiology Department Aberdeen Royal Infirmary  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Rankin","sequence":"additional","affiliation":[{"name":"Pathology Department Raigmore Hospital  Inverness Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.C.S.","family":"Dean","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Ashgrove House  Aberdeen Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.110.976092"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-007-0505-5"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.2004.tb05830.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-141-11-200412070-00005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2011.05.020"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-012-0160-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.2174\/1573403X10666140514103612"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00621.x"},{"key":"e_1_2_6_10_1","unstructured":"Exome Variant Server. 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