학술논문
Neonatal brief resolved unexplained events like episode associated with long QT syndrome and novel missense mutation (Thr1502Ile).
Document Type
Article
Source
Subject
*LONG QT syndrome diagnosis
*MISSENSE mutation
*ELECTROCARDIOGRAPHY
*ATRIOVENTRICULAR node
*VENTRICULAR fibrillation
*DIAGNOSIS
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Language
ISSN
2249-4847
Abstract
Fetal and neonatal manifestations of long QT syndrome are not well documented except few case reports. We report a neonate presenting with potential brief resolved unexplained events like episode, long QT interval was noted on surface electrocardiogram, and molecular diagnosis revealed a novel heterozygous nonsynonymous missense substitution in exon 17 of the A-kinase anchor protein 9 gene. The proband responded to propranolol at a dose of 1 mg/kg/day. [ABSTRACT FROM AUTHOR]