Double de novo mutations in dilated cardiomyopathy with cardiac arrest.

Journal of Electrocardiology(2019)

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摘要
Here we report the identification of two novel mutations in a previously asymptomatic young man who suffered an out-of-hospital sudden cardiac arrest. During following evaluation, diagnosis of early stage dilated cardiomyopathy was established, while electrocardiogram monitoring showed frequent complex ventricular arrhythmias, incomplete right bundle branch block and prolonged QT duration. No reversible causes explaining the clinical presentation were established and an automatic implantable cardioverter defibrillator was therefore implanted.
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关键词
Dilated cardiomyopathy,Sudden cardiac death,Mutation,NKX2-5,RBM20,Genetic screening
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