Cardiology MCQ: Familial WPW syndrome

Gene responsible for familial WPW syndrome: a) KCNJ5 b) HERG c) PRKAG2 d) None of the above Correct Answer: c) PRKAG2 WPW syndrome is characterized by short PR interval, delta wave due to ventricular pre-excitation and consequent arrhythmias. About three percent of WPW syndrome can have a familial occurrence [ Vidaillet HJ, et al. Familial occurrence of accessory atrioventricular pathways (preexcitation syndrome). N Engl J Med 1987;317:65-9]. These familial cases have an autosomal dominant mode of inheritance and the genes responsible were first identified by Gallob MH and associates [Gollob MH et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 2001;344:1823-31] who mapped the gene responsible to 7q34-q36. The gene which encodes for a protein AMPK (AMP- activated protein kinase) was identified as the causal gene (PRKAG2). Specifically, it encodes for the gamma-2 subunit which is a non catalytic subunit of AMPK. These were missense mutations in which a single nucleotide is substituted by another one, inducing a change of a single amino acid in the sequence of the final protein which is produced by the action of the gene. Initial cases of familial WPW syndrome also had cardiac hypertrophy. Cardiac conduction disorders are also associated and occur around the fourth decade of life. These conduction abnormalities involve both the AV nodal and the accessory pathway and interestingly, they may require a pacemaker in spite of having...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: Cardiology MCQ DM / DNB Cardiology Entrance ECG / Electrophysiology Source Type: blogs