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Ann Lab Med. 2018 Jan;38(1):54-58. English. Brief Communication. https://doi.org/10.3343/alm.2018.38.1.54
Seo SH , Kim SY , Cho SI , Park H , Lee S , Choi JM , Kim MJ , Lee JS , Ahn KJ , Song MK , Bae EJ , Park SS , Seong MW .
Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Department of Laboratory Medicine, National Medical Center, Seoul, Korea.
Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. mwseong@snu.ac.kr
Department of Laboratory Medicine, Gyeongsang National University Changwon Hospital, Changwon, Korea.
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
Green Cross Genome, Yongin, Korea.
Green Cross Laboratories, Yongin, Korea.
Department of Laboratory Medicine, Hallym University Sacred Heart Hospital, Anyang, Korea.
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Abstract

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.

Copyright © 2019. Korean Association of Medical Journal Editors.