The multifaceted cardiac sodium channel and its clinical implications

@article{Chockalingam2012TheMC,
  title={The multifaceted cardiac sodium channel and its clinical implications},
  author={Priya Sethu Chockalingam and Arthur A. M. Wilde},
  journal={Heart},
  year={2012},
  volume={98},
  pages={1318 - 1324}
}
Sudden cardiac death (SCD), defined as death from a cardiac cause occurring shortly after the onset of symptoms, is most often due to an organic cardiac abnormality such as coronary artery disease or structural heart disease.1 However, death in young, active and previously healthy individuals with no identifiable cause on postmortem examination, termed sudden unexplained death (SUD), constitutes about 5% of SCD. When sudden death of unknown aetiology occurs in a child below 1 year of age, it is… Expand
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TLDR
Combining data from population-based cohort studies, it is concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype. Expand
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It is likely that elucidation of SCD mechanisms in such patients will await the discovery of multiple, novel arrhythmia-causing gene defects, as only 2 of 12 patients with unexplained sudden death were observed to have a defect in HERG among five candidate genes tested. Expand
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Variations in the gene encoding for the major sodium channel in the heart, SCN5A, has been shown to cause a number of arrhythmia syndromes, including the long-QT syndrome (type 3), Brugada syndrome, (progressive) cardiac conduction disease, sinus node dysfunction, atrial fibrillation,Atrial standstill, and dilated cardiomyopathy. Expand
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The findings expand the clinical spectrum of disorders of the cardiac sodium channel to include cardiac dilation and dysfunction and support the hypothesis that genes encoding ion channels can be implicated in dilated cardiomyopathies. Expand
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