Congenital Short QT Syndrome　― Review Focused on KCNQ1 p.Val141Met Variant ―

Minoru Horie; Hirofumi Saiki; Takanori Aizawa; Koichi Kato; Megumi Fukuyama; Takeru Makiyama; Akira Sato; Satoshi Nakano; Fumie Takechi; Shigeru Tateno; Masato Watanuki; Hiroshi Suzuki; Junichi Ozawa; Seiko Ohno; Yoshihisa Nakagawa

doi:10.1253/circj.CJ-24-0927

Congenital Short QT Syndrome　― Review Focused on KCNQ1 p.Val141Met Variant ―

Minoru Horie , Hirofumi Saiki, Takanori Aizawa, Koichi Kato, Megumi Fukuyama, Takeru Makiyama, Akira Sato, Satoshi Nakano, Fumie Takechi, Shigeru Tateno, Masato Watanuki, Hiroshi Suzuki, Junichi Ozawa, Seiko Ohno, Yoshihisa Nakagawa

Author information

Minoru Horie Corresponding author
Department of Cardiovascular Medicine, Shiga University of Medical Science [Japan]
Hirofumi Saiki
Division of Pediatric Cardiology, Department of Pediatrics, Iwate Medical University [Japan]
Takanori Aizawa
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine [Japan]
Koichi Kato
Department of Cardiovascular Medicine, Shiga University of Medical Science [Japan]
Megumi Fukuyama
Department of Cardiovascular Medicine, Shiga University of Medical Science [Japan]
Takeru Makiyama
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine [Japan]
Akira Sato
Division of Pediatric Cardiology, Department of Pediatrics, Iwate Medical University [Japan]
Satoshi Nakano
Division of Pediatric Cardiology, Department of Pediatrics, Iwate Medical University [Japan]
Fumie Takechi
Department of Pediatrics, Chiba Cerebral and Cardiovascular Center [Japan]
Department of Pediatrics, Graduate School of Medical and Pharmaceutical Sciences, Chiba University [Japan]
Shigeru Tateno
Department of Pediatrics, Chiba Kaihin Municipal Hospital [Japan]
Masato Watanuki
Department of Cardiology, Hamamatsu Rosai Hospital [Japan]
Hiroshi Suzuki
Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital [Japan]
Junichi Ozawa
Department of Pediatrics, Nagaoka Red Cross Hospital [Japan]
Seiko Ohno
Medical Genome Center, National Cerebral and Cardiovascular Center [Japan]
Yoshihisa Nakagawa
Department of Cardiovascular Medicine, Shiga University of Medical Science [Japan]

Keywords: Atrial and ventricular remodeling, Atrial fibrillation, KCNQ1 p.Val141Met, Reverse remodeling, Short QT syndrome, Sick sinus syndrome, Ventricular arrhythmia

JOURNAL OPEN ACCESS FULL-TEXT HTML Advance online publication

Article ID: CJ-24-0927

DOI https://doi.org/10.1253/circj.CJ-24-0927

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Abstract

Short QT syndrome (SQTS) is a very rare inherited arrhythmia characterized by extremely short QT intervals on electrocardiograms and sudden cardiac death in young patients. Among the genotypes of SQTS, gain-of-function variants in the potassium voltage-gated channel subfamily Q member 1 (KCNQ1) gene are accountable for SQTS type 2 (SQT2). Pathogenic variants for SQT2 are rare and, among them, the p.Val141Met is relatively prevalent. This review summarizes findings for 5 SQTS patients harboring p.Val141Met we recently encountered and compares them to another 14 patients reported in the literature.

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