Double de novo mutations in dilated cardiomyopathy with cardiac arrest.
作者： Ilenia Monaco , Rosa Santacroce , Graziapia Casavecchia , Michele Correale , Dario Bottigliero
DOI: 10.1016/J.JELECTROCARD.2018.12.015
关键词:
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 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 clinical presentation were established automatic implantable cardioverter defibrillator therefore implanted. Heterozygous human protein coding genes NKX2-5 RBM20 are associated with wide array pathological phenotypes some which death, unexplained syncope either combined or isolated congenital heart diseases such as cardiomyopathy.
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