Article Sidebar

PDF (Tiếng Việt)
Published: 2025-12-30
Abstract Views: 0
Views PDF (Tiếng Việt): 0
DOI: https://doi.org/10.52852/tcncyh.v197i12.4303
Issue
Vol. 197 No. 12 (2025)
Section
Các bài báo
How to Cite
Bảng, Q. T., Hải, N. T., Cảnh, L. M., Xướng, P. V., Hoàn, T. Q., & Linh, Đoàn T. (2025). The role of the RYR2 mutation in differentiating long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Two cases reports. Journal of Medical Research, 197(12), 868-875. https://doi.org/10.52852/tcncyh.v197i12.4303

The role of the RYR2 mutation in differentiating long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Two cases reports

Quach Tien Bang, Nguyen Thanh Hai, Luong Minh Canh, Pham Van Xuong, Tran Quoc Hoan, Doan Thi Linh

Main Article Content

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) and long QT syndrome (LQTS) are two congenital hereditary disorders characterized by prolonged ventricular depolarization and repolarization. In this study, we present two cases of twin brothers, one of whom experienced out-of-hospital cardiac arrest due to CPVT. Genetic analysis detected the RYR2 (ryanodine receptor type 2) mutation in both brothers. CPVT may be misdiagnosed in patients with syncope or cardiac arrest and an atypical diagnosis of LQTS; however, its clinical course is more severe and its mortality rate is higher than that of LQTS.

Article Details

Keywords

Sudden cardiac death, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia

References

1. Fitzgerald N, Lawley C, Morrish A, et al. Catecholaminergic polymorphic ventricular tachycardia in children-incidence and trends in detection, presentation and management. June 2025.
2. Roston TM, Vinocur JM, Maginot KR, et al. Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry. Circ Arrhythm Electrophysiol. 2015; 8(3): 633-642.
3. Kukavica D, Pili G, Trancuccio A, et al. Prognostic relevance of baseline exercise stress test in RYR2 -related CPVT. Europace. 2025; 27(2): euae294.
4. Tester DJ, Kopplin LJ, Will ML, Ackerman MJ. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005; 2(10): 1099-1105.
5. Schwartz PJ, MD LC, Insolia R. Long QT Syndrome: From Genetics to Management. Circ Arrhythm Electrophysiol. 2012; 5(4): 868-877.
6. Larrow DR, Marcus KS, Gipson K, et al. Upper Airway Stimulation for Children and Adolescents with Down Syndrome: Long-Term Follow-Up. The Laryngoscope. 2025; 135(3): 1218-1222.
7. Priori S, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2015; 36(41): 2793-2867.
8. Khuyến cáo trong chẩn đoán và điều trị một số rối loạn nhịp thất | Tim mạch học | Hội Tim mạch học thành phố Hồ Chí Minh. December 2012. https://timmachhoc.vn/khuyen-cao-trong-chan-doan-va-dieu-tri-mot-so-roi-loan-nhip-that/. Accessed October 3, 2025.
9. Trương Thanh Hương. Tiếp cận chẩn đoán và điều trị hội chứng QT dài bẩm sinh: Báo cáo một ca bệnh. Tạp Chí Nghiên Cứu Học. 2022;157:259-265. https://tapchinghiencuuyhoc.vn/index.php/tcncyh/article/view/1049/651.
10. Siu A, Tandanu E, Ma B, et al. Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care. Ann Pediatr Cardiol. 2023; 16(6): 431.
11. Kuinose K, Toya T, Yamaga M, Nagatomo Y, Adachi T, Ikegami Y. Unveiling catecholaminergic polymorphic ventricular tachycardia: A case of type 2 ryanodine receptor exon 3 deletion mimicking long QT syndrome type 1. Hear Case Rep. 2025; 11(1): 43-46.