{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T21:59:23Z","timestamp":1747173563894,"version":"3.40.5"},"reference-count":17,"publisher":"Cambridge University Press (CUP)","issue":"7","license":[{"start":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T00:00:00Z","timestamp":1591660800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Catecholaminergic polymorphic ventricular tachycardia is a rare (prevalence: 1\/10,000) channelopathy characterised by exercise-induced or emotion-triggered ventricular arrhythmias. There is an overall paucity of genotype-phenotype correlation studies in patients with catecholaminergic polymorphic ventricular tachycardia, and in vitro and in vivo effects of individual mutations have not been well characterised. We report an 8-year-old child who carried a mutation in the coding exon 8 of <jats:italic>RYR2<\/jats:italic> (p.R169L) and presented with emotion-triggered sudden cardiac death. He was also found to have left ventricular hypertrophy, a combination which has not been reported before. We discuss the association between genetic variation in <jats:italic>RYR2<\/jats:italic>, particularly mutations causing replacement of arginine at position 169 of RYR2 and structural cardiac abnormalities.<\/jats:p>","DOI":"10.1017\/s1047951120001316","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T08:32:54Z","timestamp":1591691574000},"page":"1039-1042","source":"Crossref","is-referenced-by-count":1,"title":["<i>RYR2<\/i> p.R169L mutation and left ventricular hypertrophy in a child with emotion-triggered sudden death"],"prefix":"10.1017","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3410-840X","authenticated-orcid":false,"given":"Utkarsh","family":"Kohli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Kuntz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hemal M.","family":"Nayak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2020,6,9]]},"reference":[{"key":"S1047951120001316_ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2013.08.015"},{"key":"S1047951120001316_ref13","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.829267"},{"key":"S1047951120001316_ref11","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehq508"},{"key":"S1047951120001316_ref10","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-19-0720"},{"key":"S1047951120001316_ref12","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)01946-0"},{"key":"S1047951120001316_ref3","doi-asserted-by":"publisher","DOI":"10.1111\/pace.13668"},{"key":"S1047951120001316_ref5","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/euw389"},{"key":"S1047951120001316_ref4","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.112.970517"},{"key":"S1047951120001316_ref17","article-title":"Ventricular arrhythmia suppression with ivabradine in a patient with catecholaminergic polymorphic ventricular tachycardia refractory to nadolol, flecainide, and sympathectomy","volume":"Apr 7","author":"Kohli","year":"2020","journal-title":"Pacing Clin Electrophysiol"},{"key":"S1047951120001316_ref2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.741157"},{"key":"S1047951120001316_ref6","first-page":"165","article-title":"A novel missense mutation in cardiac ryanodine receptor gene as a possible cause of hypertrophic cardiomyopathy: evidence from familial analysis","volume":"114","author":"Fujino","year":"2006","journal-title":"Circulation"},{"key":"S1047951120001316_ref16","doi-asserted-by":"publisher","DOI":"10.1107\/S1399004714020343"},{"key":"S1047951120001316_ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2013.08.015"},{"key":"S1047951120001316_ref7","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.111.256560"},{"key":"S1047951120001316_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2005.02.051"},{"key":"S1047951120001316_ref1","doi-asserted-by":"publisher","DOI":"10.1161\/HYPERTENSIONAHA.113.02234"},{"key":"S1047951120001316_ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0131517"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951120001316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,28]],"date-time":"2020-07-28T10:35:13Z","timestamp":1595932513000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951120001316\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,9]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["S1047951120001316"],"URL":"https:\/\/doi.org\/10.1017\/s1047951120001316","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2020,6,9]]}}}