{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,2]],"date-time":"2024-06-02T00:14:22Z","timestamp":1717287262910},"reference-count":23,"publisher":"International Heart Journal (Japanese Heart Journal)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. Heart J."],"published-print":{"date-parts":[[2024,5,31]]},"DOI":"10.1536\/ihj.23-652","type":"journal-article","created":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T22:15:03Z","timestamp":1717107303000},"page":"580-585","source":"Crossref","is-referenced-by-count":0,"title":["Diverse Phenotypic Manifestations in a Family with a Novel &lt;i&gt;RYR2&lt;\/i&gt; E4107A Variant"],"prefix":"10.1536","volume":"65","author":[{"given":"Hiroshi","family":"Hasegawa","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuntaro","family":"Tamura","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reika","family":"Kawabata-Iwakawa","sequence":"additional","affiliation":[{"name":"Division of Integrated Oncology Research, Gunma University Initiative for Advanced Research"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kobari","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naohiro","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Fukaya Red Cross Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukie","family":"Sano","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Nishiyama","sequence":"additional","affiliation":[{"name":"Gunma University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Kurabayashi","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiaki","family":"Kaneko","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Nakatani","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"437","reference":[{"key":"1","doi-asserted-by":"publisher","unstructured":"1. Priori SG, Napolitano C, Memmi M, <i>et al<\/i>. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002; 106: 69-74.","DOI":"10.1161\/01.CIR.0000020013.73106.D8"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Dharmawan T, Nakajima T, Ohno S, <i>et al<\/i>. Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia. Ann Noninvasive Electrocardiol 2019; 24: e12623.","DOI":"10.1111\/anec.12623"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3. Priori SG, Wilde AA, Horie M, <i>et al<\/i>. 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. Heart Rhythm 2013; 10: 1932-63.","DOI":"10.1016\/j.hrthm.2013.05.014"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Nakajima T, Tamura S, Kurabayashi M, Kaneko Y. Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes. Int J Mol Sci 2021; 22: 3930.","DOI":"10.3390\/ijms22083930"},{"key":"5","doi-asserted-by":"publisher","unstructured":"5. Choi G, Kopplin LJ, Tester DJ, Will ML, Haglund CM, Ackerman MJ. Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation 2004; 110: 2119-24.","DOI":"10.1161\/01.CIR.0000144471.98080.CA"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Tiso N, Stephan DA, Nava A, <i>et al<\/i>. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10: 189-94.","DOI":"10.1093\/hmg\/10.3.189"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Jiang D, Chen W, Wang R, Zhang L, Chen SR. Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. Proc Natl Acad Sci U S A 2007; 104: 18309-14.","DOI":"10.1073\/pnas.0706573104"},{"key":"8","doi-asserted-by":"publisher","unstructured":"8. Fujii Y, Itoh H, Ohno S, <i>et al<\/i>. A type 2 ryanodine receptor variant associated with reduced Ca(2+) release and short-coupled torsades de pointes ventricular arrhythmia. Heart Rhythm 2017; 14: 98-107.","DOI":"10.1016\/j.hrthm.2016.10.015"},{"key":"9","doi-asserted-by":"publisher","unstructured":"9. Hirose S, Murayama T, Tetsuo N, <i>et al<\/i>. Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome. Europace 2022; 24: 497-510.","DOI":"10.1093\/europace\/euab250"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Jiang D, Wang R, Xiao B, <i>et al<\/i>. Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Circ Res 2005; 97: 1173-81.","DOI":"10.1161\/01.RES.0000192146.85173.4b"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Wleklinski MJ, Kannankeril PJ, Knollmann BC. Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia. J Physiol 2020; 598: 2817-34.","DOI":"10.1113\/JP276757"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Sun B, Yao J, Ni M, <i>et al<\/i>. Cardiac ryanodine receptor calcium release deficiency syndrome. Sci Transl Med 2021; 13: eaba7287.","DOI":"10.1126\/scitranslmed.aba7287"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Roston TM, Wei J, Guo W, <i>et al<\/i>. Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome. JAMA Cardiol 2022; 7: 84-92.","DOI":"10.1001\/jamacardio.2021.4458"},{"key":"14","doi-asserted-by":"publisher","unstructured":"14. Shimizu W, Noda T, Takaki H, <i>et al<\/i>. Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. Heart Rhythm 2004; 1: 276-83.","DOI":"10.1016\/j.hrthm.2004.04.021"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Nakajima T, Dharmawan T, Kawabata-Iwakawa R, <i>et al<\/i>. Biophysical defects of an SCN5A V1667I mutation associated with epinephrine-induced marked QT prolongation. J Cardiovasc Electrophysiol 2020; 31: 2107-15.","DOI":"10.1111\/jce.14575"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Adler A, Novelli V, Amin AS, <i>et al<\/i>. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation 2020; 141: 418-28.","DOI":"10.1161\/CIRCULATIONAHA.119.043132"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Ozawa J, Ohno S, Fujii Y, <i>et al<\/i>. Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 - Modified Schwartz Score. Circ J 2018; 82: 2269-76.","DOI":"10.1253\/circj.CJ-17-1032"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Ormerod JOM, Ormondroyd E, Li Y, <i>et al<\/i>. Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome. Circ Genom Precis Med 2022; 15: e003589.","DOI":"10.1161\/CIRCGEN.121.003589"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Niwamae N, Kaneko Y, Nakajima T, Kurabayashi M. Torsades de pointes mimicking monomorphic ventricular tachycardia. Intern Med 2010; 49: 2521-2.","DOI":"10.2169\/internalmedicine.49.4314"},{"key":"20","doi-asserted-by":"publisher","unstructured":"20. Viitasalo M, Oikarinen L, Vaananen H, Kontula K, Toivonen L, Swan H. U-waves and T-wave peak to T-wave end intervals in patients with catecholaminergic polymorphic ventricular tachycardia, effects of beta-blockers. Heart Rhythm 2008; 5: 1382-8.","DOI":"10.1016\/j.hrthm.2008.06.011"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Taniguchi Y, Miyazaki A, Sakaguchi H, <i>et al<\/i>. Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene. Heart Vessels 2017; 32: 229-33.","DOI":"10.1007\/s00380-016-0869-z"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Nakajima T, Kaneko Y, Taniguchi Y, <i>et al<\/i>. The mechanism of catecholaminergic polymorphic ventricular tachycardia may be triggered activity due to delayed afterdepolarization. Eur Heart J 1997; 18: 530-1.","DOI":"10.1093\/oxfordjournals.eurheartj.a015281"},{"key":"23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/europace\/euac230","volume":"25","year":"2023","unstructured":"23. Steinberg C, Roston TM, van der Werf C, <i>et al<\/i>. RYR2-ryanodinopathies: from calcium overload to calcium deficiency. Europace 2023; 25: 1-14.","journal-title":"Europace","ISSN":"http:\/\/id.crossref.org\/issn\/1099-5129","issn-type":"print"}],"container-title":["International Heart Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/ihj\/65\/3\/65_23-652\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T04:16:23Z","timestamp":1717215383000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/ihj\/65\/3\/65_23-652\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,31]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.1536\/ihj.23-652","relation":{},"ISSN":["1349-2365","1349-3299"],"issn-type":[{"value":"1349-2365","type":"print"},{"value":"1349-3299","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,31]]},"article-number":"23-652"}}