Long-QT syndrome in a family with a KCNH2 mutation
نویسنده
چکیده
Long-QT syndrome (LQTS) is an inherited ion channelopathy resulting in abnormal ventricular repolarization and abnormal prolongation of the QT interval on the electrocardiogram. Clinical features vary, from asymptomatic individuals to those with presyncope, life threatening ventricular arrhythmias and sudden cardiac death (SCD). This case report describes a family with a mutation of the KCNH2 gene expressed phenotypically as LQT2 syndrome. The variability in phenotypic expression, the importance of family and genetic screening, and the difficult dilemma of deciding which individuals with LQTS should receive an ICD are discussed. Heart Metab. 2008;41:30–33.
منابع مشابه
Investigation of ion channel gene variants in patients with long QT syndrome.
BACKGROUND The long QT syndrome (LQTS) is an inherited arrhythmia syndrome with increased QT interval and risk of sudden death. Mutations in genes KCNQ1, KCNH2 and SCN5A account for 90% of cases with genotype determined, and genotyping is informative for genetic counseling and better disease management. OBJECTIVE Molecular investigation and computational analysis of gene variants of KCNQ1, KC...
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Long QT syndrome (LQTS) is a genetic cardiac disease. Gene mutation affects the structure or function of ion channels that are associated with a high risk of sudden death. The goal of this study was to determine the frequency of KCNQ1, KCNH2, and SCN5A mutations in LQTS in a Taiwanese population. Genomic DNA was extracted from peripheral blood samples obtained from 5 patients with LQTS and the ...
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