Key result
A novel de novo heterozygous missense variant in HECW2 (p.Leu1448Ser) was identified as the cause of congenital long QT syndrome and neurodevelopmental disorders in an infant.
Case Report (n=1)
No
This case expands the phenotypic spectrum of HECW2 pathogenic variants to include congenital long QT syndrome, which may be effectively managed with sodium channel blockers and beta-blockers.
Answers are grounded in this paper and cite their sources.
Extends HECW2 spectrum to include congenital long QT syndrome; hypothesis-generating and should not yet change practice.
Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders.
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Imanishi et al. (2023) conducted a case report in Congenital long QT syndrome and neurodevelopmental disorder (n=1). HECW2 variant (NM_001348768.2:c.4343 T > C, p.Leu1448Ser) was evaluated on Genetic etiology of congenital long QT syndrome and NDHSAL. A novel de novo heterozygous missense variant in HECW2 (p.Leu1448Ser) was identified as the cause of congenital long QT syndrome and neurodevelopmental disorders in an infant.
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