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.
journal_name
Ann Lab Medjournal_title
Annals of laboratory medicineauthors
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 MWdoi
10.3343/alm.2018.38.1.54subject
Has Abstractpub_date
2018-01-01 00:00:00pages
54-58issue
1eissn
2234-3806issn
2234-3814pii
38.54journal_volume
38pub_type
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