{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T22:56:31Z","timestamp":1791586591046,"version":"4.3.4"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,26]],"date-time":"2017-12-26T00:00:00Z","timestamp":1514246400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004411","name":"Heart and Stroke Foundation of Canada","doi-asserted-by":"publisher","award":["Endowed Chair"],"award-info":[{"award-number":["Endowed Chair"]}],"id":[{"id":"10.13039\/100004411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life\u2010threatening events. We assessed if affected gene and variant burden predict outcomes. Patients &lt;18\u2009years old with primary HCM with a pathogenic variant or variant of uncertain significance in cardiomyopathy genes were included. Association of gene and variant number and type with freedom from major adverse cardiac events (MACE), that is, ICD insertion, myectomy, aborted SCD, transplantation or death, was assessed by Cox regression. A total of 98 of 155 gene\u2010tested patients carried a non\u2010benign variant. The primary affected gene was <jats:italic>MYH7<\/jats:italic> in 35% (<jats:italic>MYH7<\/jats:italic>+) and <jats:italic>MYBPC3<\/jats:italic> in 49% (<jats:italic>MYBPC3<\/jats:italic>+). <jats:italic>MYH7+<\/jats:italic> patients had earlier disease onset and higher risk of MACE (hazard ratio 2.7, 95% CI 1.3\u20105.7). Risk of MACE was also higher in patients with multiple variants (n\u2009=\u200916) (HR 2.5, CI: 1.1\u20105.9) compared to a propensity score\u2010matched single variant subset, after adjustment for primary gene, and in patients with de novo (<jats:italic>n<\/jats:italic>\u2009=\u200918) vs inherited variants (HR 5.7, CI: 2.6\u201012.7). Affected gene (eg, <jats:italic>MYH7<\/jats:italic>), higher variant burden and de novo variant status are independently associated with earlier onset and higher frequency of adverse outcomes in pediatric HCM, highlighting the importance of genetic risk stratification in HCM.<\/jats:p>","DOI":"10.1111\/cge.13157","type":"journal-article","created":{"date-parts":[[2017,10,20]],"date-time":"2017-10-20T12:52:37Z","timestamp":1508503957000},"page":"310-319","source":"Crossref","is-referenced-by-count":81,"title":["Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy"],"prefix":"10.1111","volume":"93","author":[{"given":"J.","family":"Mathew","sequence":"first","affiliation":[{"name":"Cardiology Department The Royal Children\u2019s Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Zahavich","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics 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