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Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation
Augustus O. Grant, … , Carlo Napolitano, Silvia Priori
Augustus O. Grant, … , Carlo Napolitano, Silvia Priori
Published October 15, 2002
Citation Information: J Clin Invest. 2002;110(8):1201-1209. https://doi.org/10.1172/JCI15570.
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Article

Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

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Abstract

Research Article

Authors

Augustus O. Grant, Michael P. Carboni, Valentina Neplioueva, C. Frank Starmer, Mirella Memmi, Carlo Napolitano, Silvia Priori

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Figure 1

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A pedigree of the family and a summary of the different cardiac phenotyp...
A pedigree of the family and a summary of the different cardiac phenotypes observed in the 15 genetically affected individuals who were clinically investigated. Overall, in this family, three pathological phenotypes have been associated with the NaV 1.5 K1500 deletion mutation (Figure 2): QT interval prolongation, ST segment elevation in V1–V3 (with the typical Brugada-like morphology), and conduction abnormalities. Forty percent of gene carriers reported syncopal episodes in their clinical history, and in two of them these episodes were related to sinus pauses. LP, late potential; CB, conduction block; pb, proband. *Spontaneous ST segment elevation in V1–V3. **Incomplete right bundle branch block.

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