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KMID : 1100720180380010054
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Annals of Laboratory Medicine
2018 Volume.38 No. 1 p.54 ~ p.58
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Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A
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Seo Soo-Hyun
Kim So-Yeon
Cho Sung-Im
Park Hyun-Woong
Lee Seung-Jun
Choi Jong-Moon
Kim Man-Jin
Lee Jee-Soo
Ahn Kyung-Jin
Song Mi-Kyoung
Bae Eun-Jung
Park Sung-Sup
Seong Moon-Woo
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Abstract
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Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%). Among the LQTS-related genes, we detected a previously reported pathogenic variant, CACNA1C c.1552C>T, responsible for cardiac-only Timothy syndrome. Among the genes related to other cardiac diseases, a likely pathogenic variant, RYR2 c.11995A>G, was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. Comprehensive screening of genetic variants using multigene panel sequencing enables detection of genetic variants with a possible involvement in QTc interval prolongation, thus uncovering unknown molecular mechanisms underlying LQTS.
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KEYWORD
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Multigene panel sequencing, Prolonged heart rate-corrected QT interval, Long QT syndrome
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