{Reference Type}: Journal Article
{Title}: Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.
{Author}: Bora E;Bulut AY;Cankaya T;Cinleti T;Genç HZ;Ozcan EE;Ozpelit E;Ulgenalp A;Caglayan AO;
{Journal}: Mol Syndromol
{Volume}: 14
{Issue}: 5
{Year}: 2023 Oct
{Factor}: 1.494
{DOI}: 10.1159/000530513
{Abstract}: <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.