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- W2896578421 abstract "Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and low urinary calcium excretion. While it is considered a benign disease, severe ventricular arrhythmia and sudden cardiac death related to the prolongation of the QT interval have been reported in rare cases. Herein we report a 13-year-old girl with GS who presented with persistent prolongation of the QT interval, even after being treated for hypokalemia and hypomagnesemia. Genetic analysis identified SCN5A H558R polymorphism, which modulates the function of myocardial sodium channel, and SLC12A3 A588V mutation, which causes GS. The SCN5A polymorphism and GS-related electrolyte disturbance might have contributed to the persistent QT prolongation in this patient. Although no ventricular arrhythmias were recorded in this case, careful cardiac surveillance should be applied for avoiding life-threatening cardiac events." @default.
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- W2896578421 date "2018-11-30" @default.
- W2896578421 modified "2023-10-02" @default.
- W2896578421 title "Persistent QT Prolongation in a Child with Gitelman Syndrome and <i>SCN5A</i> H558R Polymorphism" @default.
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- W2896578421 doi "https://doi.org/10.1536/ihj.17-686" @default.
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