{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:50:59Z","timestamp":1753876259709,"version":"3.41.2"},"reference-count":12,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T00:00:00Z","timestamp":1733702400000},"content-version":"vor","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is suspected by clinical characteristics involving fatal arrhythmic events in childhood and adolescence. On the other hand, genetic testing is also important because the mutation site in the specific genes of CPVT is related to the risk of ventricular arrhythmias and gene penetrance.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>We present a case of a 15-year-old male with a familial history of CPVT and a history of syncope at the age of 5. He experienced a cardiac arrest prompting out-of-hospital cardiopulmonary resuscitation, and his circulatory dynamics recovered. Multiple premature ventricular contractions inducted by a treadmill exercise test disappeared after a dosage of verapamil, flecainide, and nadolol, and a subcutaneous implantable cardioverter defibrillator was implanted. The novel pathogenic mutation with an insertion of histidine near the C-terminus of the RYR2 protein was identified by genetic testing in this case and his mother.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>The RYR2 mutation in this case has not been previously reported and may be an intractable phenotype of CPVT associated with a strong familial history and fatal cardiac events even under adequate medical therapy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytae652","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T23:33:31Z","timestamp":1733873611000},"source":"Crossref","is-referenced-by-count":0,"title":["A case report of familial catecholaminergic polymorphic ventricular tachycardia with a novel mutation in the ryanodine receptor 2"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6872-2446","authenticated-orcid":false,"given":"Yoshikuni","family":"Shoji","sequence":"first","affiliation":[{"name":"Division of Cardiology, Kawaguchi Municipal Medical Center , 180 Nishiaraijyuku, Kawaguchi-shi, Saitama, 333-0833 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8240-6201","authenticated-orcid":false,"given":"Satoshi","family":"Hayashida","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Kawaguchi Municipal Medical Center , 180 Nishiaraijyuku, Kawaguchi-shi, Saitama, 333-0833 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hikaru","family":"Masuda","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Kawaguchi Municipal Medical Center , 180 Nishiaraijyuku, Kawaguchi-shi, Saitama, 333-0833 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6024-9367","authenticated-orcid":false,"given":"Eizo","family":"Tachibana","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Kawaguchi Municipal Medical Center , 180 Nishiaraijyuku, Kawaguchi-shi, Saitama, 333-0833 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2960-4241","authenticated-orcid":false,"given":"Yasuo","family":"Okumura","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Nihon University School of Medicine , 30-1 Ohyaguchi-kamicho, Itabashi-ku, Tokyo, 173-8610 ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,12,9]]},"reference":[{"key":"2024121613224737500_ytae652-B1","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"2022 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"43","author":"Zeppenfeld","year":"2022","journal-title":"Eur Heart J"},{"key":"2024121613224737500_ytae652-B2","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1253\/circj.CJ-22-0827","article-title":"JCS\/JHRS 2022 guideline on diagnosis and risk assessment of arrhythmia","volume":"88","author":"Takase","year":"2024","journal-title":"Circ J"},{"key":"2024121613224737500_ytae652-B3","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1016\/j.hrthm.2013.05.014","article-title":"HRS\/EHRA\/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013","volume":"10","author":"Priori","year":"2013","journal-title":"Heart Rhythm"},{"key":"2024121613224737500_ytae652-B4","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.joa.2015.09.008","article-title":"Current topics in catecholaminergic polymorphic ventricular tachycardia","volume":"32","author":"Sumitomo","year":"2016","journal-title":"J Arrhythm"},{"key":"2024121613224737500_ytae652-B5","doi-asserted-by":"crossref","first-page":"euad156","DOI":"10.1093\/europace\/euad156","article-title":"RYR2-ryanodinopathies: from calcium overload to calcium deficiency","volume":"25","author":"Steinberg","year":"2023","journal-title":"Europace"},{"key":"2024121613224737500_ytae652-B6","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1093\/europace\/euw389","article-title":"The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry","volume":"20","author":"Roston","year":"2018","journal-title":"Europace"},{"key":"2024121613224737500_ytae652-B7","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1161\/01.CIR.91.5.1512","article-title":"Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients","volume":"91","author":"Leenhardt","year":"1995","journal-title":"Circulation"},{"key":"2024121613224737500_ytae652-B8","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1093\/europace\/eur277","article-title":"Therapeutic approach for patients with catecholaminergic polymorphic ventricular tachycardia: state of the art and future developments","volume":"14","author":"van der Werf","year":"2012","journal-title":"Europace"},{"key":"2024121613224737500_ytae652-B9","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1136\/heart.89.1.66","article-title":"Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death","volume":"89","author":"Sumitomo","year":"2003","journal-title":"Heart"},{"key":"2024121613224737500_ytae652-B10","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/j.hrthm.2007.05.017","article-title":"Calcium channel blockers and beta-blockers versus beta-blockers alone for preventing exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia","volume":"4","author":"Rosso","year":"2007","journal-title":"Heart Rhythm"},{"key":"2024121613224737500_ytae652-B11","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1016\/j.jacc.2011.01.026","article-title":"Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia","volume":"57","author":"van der Werf","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"2024121613224737500_ytae652-B12","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1161\/CIRCULATIONAHA.108.829267","article-title":"Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia","volume":"119","author":"Hayashi","year":"2009","journal-title":"Circulation"}],"container-title":["European Heart Journal - Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ehjcr\/advance-article-pdf\/doi\/10.1093\/ehjcr\/ytae652\/60989015\/ytae652.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/8\/12\/ytae652\/61200043\/ytae652.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/8\/12\/ytae652\/61200043\/ytae652.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T13:23:04Z","timestamp":1734355384000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/doi\/10.1093\/ehjcr\/ytae652\/7919232"}},"subtitle":[],"editor":[{"given":"Stefan","family":"Simovic","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Vera","family":"Maslova","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Bogdan","family":"Enache","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Nicolo","family":"Sisti","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2024,11,28]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,11,28]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytae652","relation":{},"ISSN":["2514-2119"],"issn-type":[{"type":"electronic","value":"2514-2119"}],"subject":[],"published-other":{"date-parts":[[2024,12]]},"published":{"date-parts":[[2024,11,28]]},"article-number":"ytae652"}}