%0 Journal Article
%T Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
%A Bora E
%A Bulut AY
%A Cankaya T
%A Cinleti T
%A Genç HZ
%A Ozcan EE
%A Ozpelit E
%A Ulgenalp A
%A Caglayan AO
%J Mol Syndromol
%V 14
%N 5
%D 2023 Oct
%M 37901857
%F 1.494
%R 10.1159/000530513
%X <B>UNASSIGNED: </B>Long QT syndrome (LQTS) is a disorder of ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram. It increases the risk of ventricular arrhythmias, which can cause syncope or sudden cardiac death. In this study, we study the genotype-phenotype relationships of patients referred to us with suspected arrhythmia syndrome.<BR><B>UNASSIGNED: </B>Seventeen cases and their twenty relatives were evaluated. Next-generation sequencing analysis was performed for 17 LQTS-related genes.<BR><B>UNASSIGNED: </B>We detected seventeen single nucleotide variants (SNVs) with potential pathogenic significance in 26 of the 36 subjects analyzed. KCNH2 c.172G>A, KCNQ1 c.1768G>A, ANK2 c.4666A>T, c.1484_1485delCT, KCNH2 c.1888G>A were reported as pathogenic or likely pathogenic in HGMD variant classification database.<BR><B>UNASSIGNED: </B>Current study pointed out that early diagnosis can be life-saving for patients and their families by taking family history and detailed examination. Also, we highlight the clinical heterogeneity of arrhythmia syndrome through a patient with a dual phenotype.