{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T04:17:51Z","timestamp":1744172271200,"version":"3.40.3"},"reference-count":1,"publisher":"Cambridge University Press (CUP)","issue":"9","license":[{"start":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T00:00:00Z","timestamp":1732147200000},"content-version":"unspecified","delay-in-days":81,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The interesting study has limitations that put the results and their interpretation into perspective. m.3243A&gt;G carriers should undergo prospective testing for multisystem disease to avoid missing subclinical multisystem involvement. m.3243A&gt;G carriers with hypertrophic cardiomyopathy require long-term electrocardiogram recordings to determine whether implantable cardioverter defibrillator implantation is necessary or not. To assess the outcome of m.3243A&gt;G carriers, knowledge of heteroplasmy rates and mtDNA copy numbers is required. It is tempting to assign pathogenicity when any pathogenic variant is seen with genotype-phenotype correlation. However, double hits are possible and if genetic information is to be used to screen or risk-stratify other family members, the standard of care would be to ensure that post-mortem genetic autopsy is performed for a panel of causative genes, and that an autopsy is done to exclude other causes of death, if possible.<\/jats:p>","DOI":"10.1017\/s1047951124036187","type":"journal-article","created":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T06:26:43Z","timestamp":1732170403000},"page":"2057-2058","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["To prevent sudden death in m.3243A&gt;G carriers, comprehensive neurologic, cardiac, and pulmological examinations are required"],"prefix":"10.1017","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2221-7193","authenticated-orcid":false,"given":"Sounira","family":"Mehri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2839-7305","authenticated-orcid":false,"given":"Josef","family":"Finsterer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2024,11,21]]},"reference":[{"doi-asserted-by":"publisher","key":"S1047951124036187_ref1","DOI":"10.1017\/S1047951123000392"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951124036187","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T10:32:04Z","timestamp":1744108324000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951124036187\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":1,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["S1047951124036187"],"URL":"https:\/\/doi.org\/10.1017\/s1047951124036187","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"\u00a9 The Author(s), 2024. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}