Long QT Syndrome (LQTS) Panel
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چکیده
The Blueprint Genetics Long QT Syndrome (LQTS) Panel provides efficient and rapid genetic diagnostics for all reported long QT syndrome subtypes (LQTS 1-13). Long QT syndrome is a disorder resulting from abnormal ion-channel functions leading to prolonged repolarization of cardiac muscle and manifests as long Q-T interval on electrocardiogram (ECG). LQTS can present as unexpected fainting, ventricular arrhythmias and sudden cardiac death in patients with structurally normal hearts. Sudden death can be the first symptom in 10%-15% of long QT syndrome patients. In addition to reporting of disease-causing mutations, we report also LQTS modifiers with extensive evidence of clinical relevance.
منابع مشابه
Lack of association between coding region of KCNE2 gene and the congenital long QT syndrome in an Iranian population
Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...
متن کاملIdentification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families
Background: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. Methods: Molecular investigation was performed by DNA Sanger sequencing in Iranian families with a history of syncope. In silico examinations were performed for predicting the path...
متن کاملThe mitochondrial DNA mutations associated with cardiac arrhythmia investigated in an LQTS family
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
متن کاملمعرفی یک مورد بیمار نجات یافته از مرگ ناگهانی ناشی از سندرم QT طولانی
Çongenital long-QT syndrome (LQTS) is an inherited disorder that presents with syncope, polymorphic ventricular tachycardia, torsade de pointes and sudden death. The incidence rate of LQTS is 1 to 2 per 100000 and mainly involves children and young individuals. Because of familial and genetic underling and predisposing factors for life threatening arrhythmias in patients, diagnosis and treatm...
متن کاملApplication of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A
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 ...
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