In:
Journal of Cardiovascular Electrophysiology, Wiley, Vol. 14, No. 2 ( 2003-02), p. 200-203
Kurzfassung:
SCN5A Mutation and ST Segment Elevation in Inferior Leads . Mutations in the SCN5A gene can lead to the Brugada syndrome, a genetically inherited form of idiopathic ventricular fibrillation that has a characteristic ECG phenotype usually restricted to precordial leads V 1 –V 3 . We identified a novel G752R SCN5A missense mutation leading to various degrees of the Brugada ECG phenotype in members of a French family. In the proband, the G752R mutation produced ST segment elevation and prominent J wave in leads II, III, and aVF. In four other relatives, ST segment elevation in the right precordial but not in the inferior leads was observed either spontaneously or under flecainide challenge. Recombinant G752R mutant exhibited a markedly reduced Na + current amplitude and a voltage shift in both activation and inactivation curves. The mutant was found in all affected but not in nonaffected family members. One additional gene‐carrier had an almost normal ECG (silent gene‐carrier). We provide genetic demonstration that Brugada ECG anomalies related to a unique SCN5A mutation can be observed either in the inferior or the right precordial leads. (J Cardiovasc Electrophysiol, Vol. 14, pp. 200‐203, February 2003)
Materialart:
Online-Ressource
ISSN:
1045-3873
,
1540-8167
DOI:
10.1046/j.1540-8167.2003.02382.x
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2003
ZDB Id:
2037519-0
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