Coronary Fistulas in a Patient with a Novel Long QT Syndrome Mutation
نویسندگان
چکیده
The congenital long QT syndrome (LQTS) is a genetic cardiac channelophathy with variable penetrance characterized by corrected QT (QTc) interval prolongation and predisposition to polymorphic ventricular tachycardia (PVT), which normally presents with syncope or sudden death. It can be caused by mutations in different ion channels, resulting in prolongation of the myocardial repolarization1. The clinical course of LQTS throughout a patient’s lifetime is significantly influenced by the genotype and acquired factors that additionally compromise myocardial repolarization, including drug use, serum electrolyte abnormalities, autoimmune diseases, severe bradycardia, acute heart failure decompensation and myocardial ischemia2.
منابع مشابه
Identification 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...
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Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
متن کاملهای اسید گلوتامیک، تریپتوفان، آلانین tRNA بررسی مولکولی در Long QT وآسپارژین درژنوم میتوکندری بیماران مبتلا بهسندرم مقایسه با گروه کنترل
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