Key result
Verapamil shortens prolonged action potential duration in patient-derived hiPSC-CMs with dual KCNQ1 and TRPM4 mutations.
Why the study?
The pathogenesis of long QT syndrome related to specific gene mutations encoding cardiac ion channel proteins remains to be elucidated.
Case Report (n=1)
No
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.
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Zhao et al. (2021) conducted a case report in Long QT syndrome (LQTS) (n=1). Verapamil (in vitro testing on patient-derived hiPSC-CMs) vs. Control hiPSC-CMs / Baseline was evaluated on Action potential duration (APD) and pharmacological response in vitro. Patient-derived hiPSC-CMs carrying KCNQ1 G219E and TRPM4 T160M mutations recapitulated the prolonged action potential duration of long QT syndrome and demonstrated a significant reduction in action potential duration upon treatment with verapamil.
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