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Article

Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death.

The Journal of molecular diagnostics : JMD - 1 Jul 2026

Hata Yukiko, Yamaguchi Yoshiaki, Hirono Keiichi, Ichimata Shojiro, Mizumaki Koichi, Nishida Naoki

Abstract excerpt

Although structural heart abnormalities are not typically associated with short QT syndrome (SQTS)-related sudden unexpected death, few autopsy studies have examined the underlying pathology and genetic factors of SQTS. Therefore, comprehensive pathologic examinations and whole-exome sequencing were conducted in four men (aged 24, 28, 31, and 45 years) with sudden unexpected death and a short QT interval (sQT)....

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Topics

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Share to Arrhythmias, Cardiac
Share to Death, Sudden, Cardiac

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Exome Sequencing

Share to KCNQ2 gene

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Source

Open in PubMed Open full text

Identifiers

PMID: 42092729
DOI: 10.1016/j.jmoldx.2026.04.004
PMCID: PMC13494085

Genes

ANK2
CACNA1H
KCNQ2
PLEC
SCN10A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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