Disturbances in cardiac sodium channel function are associated with inherited arrhythmia susceptibility. Mutations in SCN5A, which encodes the cardiac sodium channel (NaV1.5), cause congenital long QT syndrome type 3 (LQT3), Brugada syndrome (BrS) and a variety of cardiac conduction disorders (CCD) [1,2]. These disorders can have complex genotype-phenotype relationships [3,4]. Here we report the clinical features of an LQTS family segregating a novel amino acid deletion mutation (N1472del) in SCN5A that produces a unique pattern of biophysical disturbances consistent with the clinical phenotype.
Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome / N., Detta; Frisso, Giulia; A., Zullo; B., Sarubbi; C., Cozzolino; E., Romeo; D. W., Wang; R., Calabrò; F., Salvatore; A. L. J. r. G. e. o. r. g., E.. - In: INTERNATIONAL JOURNAL OF CARDIOLOGY. - ISSN 0167-5273. - 165:2(2013), pp. 362-365. [10.1016/j.ijcard.2012.08.032]
Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome
FRISSO, GIULIA;
2013
Abstract
Disturbances in cardiac sodium channel function are associated with inherited arrhythmia susceptibility. Mutations in SCN5A, which encodes the cardiac sodium channel (NaV1.5), cause congenital long QT syndrome type 3 (LQT3), Brugada syndrome (BrS) and a variety of cardiac conduction disorders (CCD) [1,2]. These disorders can have complex genotype-phenotype relationships [3,4]. Here we report the clinical features of an LQTS family segregating a novel amino acid deletion mutation (N1472del) in SCN5A that produces a unique pattern of biophysical disturbances consistent with the clinical phenotype.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
