The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.

doi:10.1016/j.jacep.2016.11.013

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Article

The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.

JACC. Clinical electrophysiology - 1 Jul 2017

Hu Dan, Li Yang, Zhang Jiancheng, Pfeiffer Ryan, Gollob Michael H, Healey Jeff, Harrell Daniel Toshio, Makita Naomasa, Abe Haruhiko, Sun Yaxun, Guo Jihong, Zhang Li, Yan Ganxin, Mah Douglas, Walsh Edward P, Leopold Harris B, Giustetto Carla, Gaita Fiorenzo, Zienciuk-Krajka Agnieszka, Mazzanti Andrea, Priori Silvia G, Antzelevitch Charles, Barajas-Martinez Hector

Abstract excerpt

OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD). METHODS: Probands diagnosed with SQTS and their family members were evaluated clinically and genetically. KCNH2 wild-type (WT)...

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Identifiers

PMID: 29759541
DOI: 10.1016/j.jacep.2016.11.013

Genes

KCNH2
SCD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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