Diverse Phenotypic Manifestations in a Family with a Novel <i>RYR2</i> E4107A Variant-Reference-Cited by-同舟云学术

Diverse Phenotypic Manifestations in a Family with a Novel <i>RYR2</i> E4107A Variant

Published:2024-05-31 Issue:3 Volume:65 Page:580-585
ISSN:1349-2365
Container-title:International Heart Journal
language:en
Short-container-title:Int. Heart J.

Author:

Hasegawa Hiroshi¹,Tamura Shuntaro¹,Nakajima Tadashi¹,Kawabata-Iwakawa Reika²,Kobari Takashi¹,Matsumoto Naohiro³,Sano Yukie¹,Nishiyama Masahiko⁴,Kurabayashi Masahiko¹,Kaneko Yoshiaki¹,Nakatani Yosuke¹,Ishii Hideki¹

Affiliation:

1. Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine

2. Division of Integrated Oncology Research, Gunma University Initiative for Advanced Research

3. Division of Cardiology, Fukaya Red Cross Hospital

4. Gunma University

Publisher

International Heart Journal (Japanese Heart Journal)

Link

https://www.jstage.jst.go.jp/article/ihj/65/3/65_23-652/_pdf

Reference23 articles.

1. 1. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002; 106: 69-74.

2. 2. Dharmawan T, Nakajima T, Ohno S, et al. Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia. Ann Noninvasive Electrocardiol 2019; 24: e12623.

3. 3. Priori SG, Wilde AA, Horie M, et al. 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.

4. 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.

5. 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.