Author + information
- Yubi Lin1
Sudden cardiac death (SCD) induced by malignant ventricular tachycardia (MVT) among young adults is a devastating event. We performed a clinical and genetic study in a family of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) with history of SCD.
As recorded by emergency electrocardiograms and ICD monitoring, a female patient suffered from repeated amaurosis and syncope due to MVT. The Whole Exome and Sanger sequencing were performed using peripheral blood. The genes predisposing to cardiomyopathies and arrhythmias were screened for potential pathogenic mutations. Electrophysiological examination and catheter ablation for MVT induced repeat ICD electrical storms were performed.
The patient carried mutations of DSG2 p.F531C and KCNE5 p.D92E/E93X, which were inherited from her mother died of SCD. There were significant epicardial and low-voltage regions in inferior-apical, inferior-lateral and outflow tract of right ventricle. The MVT was successfully ablated with epicardial-endocardial approach targeting for late, double or fragmental potentials in both epicardium and endocardium after ICD electrical storms, under the guidance of three-dimensional mapping system. No recurrence was observed during one year follow-up.
DSG2 pathogenic mutation was found to be an important genetic Background predisposing to SCD, ARVC/D and MVT, which was successfully ablated by epicardial-endocardial approach.