Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene

Mutations in the SCN5A gene, which encodes the α-subunit of the cardiac sodium channel Nav1.5, may cause either a gain or a loss of channel function. Gain-of-function mutations may lead to the long QT syndrome type 3 (LQTS) [1] whereas loss-of-function mutations are associated with a spectrum of arrhythmia phenotypes including Brugada syndrome (BrS) [2], sick sinus syndrome (SSS) [3], cardiac conduction diseases (CCD) [4] and possibly dilated cardiomyopathy (DCM) [5]. Most of the inherited cardiac arrhythmia syndromes show variable phenotypic severity ranging from absence of any symptoms to sudden cardiac death (SCD).

Source: Forensic Science International - March 20, 2017 Category: Forensic Medicine Authors: T. Jenewein, B.M. Beckmann, S. Rose, H.H. Osterhues, U. Schmidt, C. Wolpert, P. Miny, C. Marschall, M. Alders, C.R. Bezzina, A.A.M. Wilde, S. K ääb, S. Kauferstein Source Type: research