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CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 3  |  Page : 170-173

Neonatal brief resolved unexplained events like episode associated with long QT syndrome and novel missense mutation (Thr1502Ile)


1 Department of Peds and Neonatology, Dr LH Hiranandani Hospital, Mumbai, Maharashtra, India
2 Department of Pediatric Cardiology, Dr LH Hiranandani Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Niraj Kumar Dipak
Department of Peds and Neonatology, Dr LH Hiranandani Hospital, Powai, Mumbai - 400 076, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_132_17

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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.


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