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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Torsades de pointes complicating atrioventricular block: Evidence for a genetic predisposition.

BACKGROUND: The prevalence of genetic risk factors has not been systematically evaluated in the setting of complete atriventricular (AV) block complicated by long QT syndrome (LQTS). OBJECTIVE: This study was performed to determine to what extent acquired LQTS in the context of AV block has a genetic substrate. METHODS: Among 420 recipients of pacemakers implanted over a 3-year period, we identified retrospectively 29 patients with complete AV block and a QT interval >600 ms in duration. A second study group included 22 randomly selected patients who had AV block and a QT interval <600 ms. Normal controls were 100 consecutive individuals without medical history. Genetic studies screening for HERG, KCNQ1 KCNE1, KCNE2, and SCN5A mutations were performed. RESULTS: We identified four mutations on genes encoding potassium channels in five patients with AV block and acquired LQTS. These mutations were not found among patients with AV block and a QT interval <600 ms in duration or in healthy volunteers. Functional expression of three HERG mutations (R328C, R696C, and R1047L) had a dominant negative effect on wild-type I(Kr). One KCNE2 mutation (R77W) identified in a patient treated with flecainide did not alter I(Kr). CONCLUSIONS: This study showed that complete AV block complicated by LQTS was associated with HERG mutations in 17% of cases. Further studies are needed to identify factors, genetic or environmental, which may be implicated in bradycardia-related abnormalities of ventricular repolarization.[1]


  1. Torsades de pointes complicating atrioventricular block: Evidence for a genetic predisposition. Chevalier, P., Bellocq, C., Millat, G., Piqueras, E., Potet, F., Schott, J.J., Baró, I., Lemarec, H., Barhanin, J., Rousson, R., Rodriguez-Lafrasse, C. Heart rhythm : the official journal of the Heart Rhythm Society (2007) [Pubmed]
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