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Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant.

Heart rhythm - 1 Jun 2022

Tobert Kathryn E, Tester David J, Zhou Wei, Haglund-Turnquist Carla M, Giudicessi John R, Ackerman Michael J

Abstract excerpt

BACKGROUND: Most of the long QT syndrome (LQTS) stems from pathogenic variants in KCNQ1, KCNH2, or SCN5A. However, ∼10%-20% of LQTS index cases remain genotype-negative. OBJECTIVE: The purpose of this study was to identify and characterize functionally a novel LQTS genetic substrate in a multigenerational, "genotype-negative" LQTS pedigree. METHODS: The patient was a 40-year-old woman with a history of syncope,...

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PMID: 35144019
DOI: 10.1016/j.hrthm.2022.02.004

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