Article
Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.
Forensic science international - 1 Jun 2017
Jenewein T, Beckmann B M, Rose S, Osterhues H H, Schmidt U, Wolpert C, Miny P, Marschall C, Alders M, Bezzina C R, Wilde A A M, Kääb S, Kauferstein S
Abstract excerpt
Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM). In most of these inherited cardiac arrhythmia syndromes the phenotypical expression may range from asymptomatic phenotypes to sudden cardiac death (SCD)....
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