Open AccessBrugada syndrome: clinical presentation and genotype—correlation with magnetic resonance imaging parameters
Author(s) -
Boris Rudic,
Rainer Schimpf,
Christian Veltmann,
Christina Doesch,
Erol Tülümen,
Stefan O. Schoenberg,
Martin Borggrefe,
Theano Papavassiliu
Publication year - 2015
Publication title -
ep europace
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.119
H-Index - 102
eISSN - 1532-2092
pISSN - 1099-5129
DOI - 10.1093/europace/euv300
Subject(s) - brugada syndrome , medicine , cardiology , cardiac magnetic resonance imaging , sodium channel , ejection fraction , mutation , genotype , magnetic resonance imaging , heart failure , gene , genetics , biology , radiology , sodium , chemistry , organic chemistry
The purpose of the this study was to evaluate a possible genotype-phenotype correlation in BrS patients and to analyze possible associations with clinical events in affected patients. SCN5A gene encodes the alpha-subunit of the voltage-gated sodium channel NaV1.5. Its mutations are associated with a broad spectrum of hereditary arrhythmias such as long-QT syndrome, cardiac conduction diseases, and Brugada syndrome (BrS). Experimental studies have shown an interaction between SCN5A and cellular cytoskeleton, explaining its functional role in cellular integrity of heart cells.
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