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Mutations in transcription factor NKX2.5 cause congenital heart disease (CHD). We identified a CHD family with atrial septal defects (ASDs), atrioventricular block, ventricular noncompaction, syncope and sudden death. Our objective is to identify the disease-causing mutation in the CHD family.Direct DNA sequence analysis was used to identify the CHD mutation. The functional effects of the mutation...
Brugada syndrome (BrS) is a life-threatening cardiac rhythm disorder characterized by persistent STsegment elevation in leads V1–V3 and right bundle branch block on electrocardiograms (ECG), and by syncope and sudden death from ventricular tachycardia (VT) and ventricular fibrillation (VF). BrS is responsible for nearly 4% of sudden cardiac deaths and considered to be the most common cause of natural...
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