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Long QT syndrome- a genetic insight

Authors:Sameera.F.Qureshi , Kumarasamy Thangaraj , Ananthapur Venkateshwari , Sai Satish Oruganti , Calambur Narasimhan , Pratibha Nallari
Int J Biol Med Res. 2010; 1(4): 330-336  |  PDF File


Long QT syndrome is a rare arrhythmogenic disorder characterized by a prolongation of the QT interval on electrocardiogram (ECG) with a propensity to ventricular tachyarrhythmia, leading to syncope, cardiac arrest or sudden death. It is regarded as the “Rosetta Stone” for studying the genetic basis of ventricular arrhythmogenesis. It is caused mainly due to mutations in sodium and potassium channel genes or in the genes involved in the signal transduction pathway. Molecular, genetic and functional studies revealed the impliction of about 13 genes in this disorder. Studies have also revealed the variation in mutations in different ethnic groups, thus necessitating a complete genetic analysis in all the known ethnic groups of the world. This would help to develop personalized medicine, molecular diagnosis, risk stratification, establish a genotype-phenotype correlation, to find the epidemiological variables responsible for the etiology of the disease and identify the possible mode of inheritance.