{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T07:13:58Z","timestamp":1789888438664,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiovasc electrophysiol"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>Sudden Death Linked to the Triadin Gene<\/jats:title><jats:p>We describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene. This is the second report of such a CPVT of autosomal recessive inheritance. Using an NGS panel including 42 genes involved in cardiac sudden death, 2 heterozygous pathogenic mutations (c.613C&gt; T\/p.Gln205* and c.22 + 29 A&gt;G) were identified in the Triadin gene in 2 sibs who experienced early severe arrhythmias without evidence of CPVT diagnosis at first cardiac evaluation. However, significant arrhythmias occurred after catecholaminergic stimulation. Each of the <jats:italic>TRDN<\/jats:italic> mutations was inherited from a healthy parent. In this family, genetic studies permit confirmation of the CPVT diagnosis in the 2 affected sibs and permit the early diagnosis of the third asymptomatic child. It also helped guide the therapeutic strategy in this family.<\/jats:p>","DOI":"10.1111\/jce.12763","type":"journal-article","created":{"date-parts":[[2015,7,20]],"date-time":"2015-07-20T09:48:07Z","timestamp":1437385687000},"page":"1146-1150","source":"Crossref","is-referenced-by-count":51,"title":["New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene"],"prefix":"10.1111","volume":"26","author":[{"given":"CAROLINE","family":"ROORYCK","sequence":"first","affiliation":[{"name":"Univ. Bordeaux Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM)  Bordeaux France"},{"name":"LIRYC, L'Institut de rythmologie et mod\u00e9lisation cardiaque Universit\u00e9 de Bordeaux INSERM  France"},{"name":"Service des cardiopathies cong\u00e9nitales H\u00f4pital Cardiologique du Haut\u2010L\u00e9v\u00eaque CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FLORENCE","family":"KYNDT","sequence":"additional","affiliation":[{"name":"Institut du thorax, Clinique Cardiologique Inserm CHU de Nantes  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DOMINIQUE","family":"BOZON","sequence":"additional","affiliation":[{"name":"Laboratoire de Cardiog\u00e9n\u00e9tique Mol\u00e9culaire, Centre de Biologie et Pathologie Est Hospices Civils de Lyon  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NATHALIE","family":"ROUX\u2010BUISSON","sequence":"additional","affiliation":[{"name":"INSERM U836, Grenoble Institut des Neurosciences Equipe Muscle et Pathologies  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FREDERIC","family":"SACHER","sequence":"additional","affiliation":[{"name":"LIRYC, L'Institut de rythmologie et mod\u00e9lisation cardiaque Universit\u00e9 de Bordeaux INSERM  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"VINCENT","family":"PROBST","sequence":"additional","affiliation":[{"name":"Institut du thorax, Clinique Cardiologique Inserm CHU de Nantes  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JEAN\u2010BENOIT","family":"THAMBO","sequence":"additional","affiliation":[{"name":"LIRYC, L'Institut de rythmologie et mod\u00e9lisation cardiaque Universit\u00e9 de Bordeaux INSERM  France"},{"name":"Service des cardiopathies cong\u00e9nitales H\u00f4pital Cardiologique du Haut\u2010L\u00e9v\u00eaque CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.015"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds104"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029538"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0199-8"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg901"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.40.28660"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.1.458"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvt023"},{"key":"e_1_2_7_10_1","article-title":"Triadin regulation of the ryanodine receptor complex","author":"Marty I","year":"2014","journal-title":"J Physiol"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.113.001224"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000118"}],"container-title":["Journal of Cardiovascular Electrophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjce.12763","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjce.12763","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jce.12763","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T08:33:09Z","timestamp":1696149189000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jce.12763"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1111\/jce.12763"],"URL":"https:\/\/doi.org\/10.1111\/jce.12763","archive":["Portico"],"relation":{},"ISSN":["1045-3873","1540-8167"],"issn-type":[{"value":"1045-3873","type":"print"},{"value":"1540-8167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9]]}}}