Condition: Hereditary bundle branch system defect


rs137854606 in SCN5A gene and Hereditary bundle branch system defect PMID 12574143 2003 Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

PMID 19251209 2009 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

PMID 11234013 2001 A sodium-channel mutation causes isolated cardiac conduction disease.

PMID 11804990 2002 Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

PMID 23420830 2013 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

PMID 12569159 2003 A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

PMID 23994779 2013 Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.