Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes
نویسندگان
چکیده
Inherited arrhythmia syndromes are a known, albeit rare, cause of sudden cardiac arrest which may present with characteristic electrocardiogram changes in patients with structurally normal heart. There are a variety of distinct arrhythmogenic syndromes that arise from mutations in voltage gated sodium channels, resulting in either gain or loss of function. We describe a patient with a primary inherited arrhythmia syndrome which presented as sudden cardiac arrest. Further workup revealed that her arrest was due to a combination of Brugada syndrome and Long QT3 syndrome secondary to a deleterious mutation of voltage-gated, sodium channel, type V alpha subunit (SCN5A Thr1709Met).
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Mutations in the subunit of the cardiac sodium channel, encoded by SCN5A, have been identified in a broad range of cardiac rhythm disorders that include long QT3 (LQT3), Brugada syndrome, progressive cardiac conduction disease, sick sinus syndrome, atrial fibrillation, and dilated cardiomyopathy. Since the identification of the first SCN5A mutation in long QT syndrome in 1995, 200 mutations hav...
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