Open AccessKCNQ1 G219E and TRPM4 T160M polymorphisms are involved in the pathogenesis of long QT syndrome
Author(s) -
Yang Zhao,
Min Feng,
Luxiang Shang,
Haixiang Sun,
Xianhui Zhou,
Yanmei Lu,
Ling Zhang,
Qiang Xing,
Yaodong Li,
Baopeng Tang
Publication year - 2021
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000024032
Subject(s) - medicine , verapamil , long qt syndrome , qt interval , pathogenesis , cardiology , induced pluripotent stem cell , pharmacology , bioinformatics , calcium , gene , genetics , embryonic stem cell , biology
Rationale: Long QT syndrome (LQTS) is an inheritable disease characterized by prolonged QT interval on the electrocardiogram. The pathogenesis of LQTS is related to mutations in LQTS-susceptible genes encoding cardiac ion channel proteins or subunits. Patient concerns: Here, we reported a 37-year-old female Uygur patient with palpitation and loss of consciousness. Diagnoses: At the time of admission, a 12-lead electrocardiogram showed a QTc interval of 514 ms. Genetic analysis revealed KCNQ1 G219E and TRPM4 T160M mutations. Interventions: Although beta-blockers remain the mainstay in treating LQTS, the patient underwent implantation of an automatic cardioverter defibrillator due to life-threatening arrhythmias. Outcomes: To explore the effect of the calcium ion antagonist verapamil on ion channels, we generated human induced pluripotent stem cell cardiomyocytes (hiPSC-CMs) from the peripheral blood mononuclear cells of the patient. The changes of action potential duration in response to verapamil were observed. Lessons: Our results showed that patient-derived hiPSC-CMs could recapitulate the electrophysiological features of LQTS and display pharmaceutical responses to verapamil.