Table 1. .
Clinical Findings of the Patient with the DSC2 Mutation
Metric and Clinical Findings | Task Force Criteriaa (Major/Minor) |
Twelve-lead ECG: | |
Epsilon wave in V1 | 1/0 |
Inverted T waves in precordial leads (V1–V6) | 0/1 |
Holter monitoring: | |
Nonsustained left bundle branch block–type tachycardia | 0/1 |
2D echocardiogram/right ventricular angiogram: | |
Severe dilatation and hypokinesia of the right ventricle, trabecular disarrangement, diastolic bulging, no left ventricular involvement | 1/0 |
Tissue characteristics of a right ventricular biopsy: | |
Mild interstitial fibrosis and fatty infiltration of myocardium | 0/0 |
Family history: | |
No additional family members available | 0/0 |
Diagnostic score | 2/2 |
For the diagnosis of ARVC to be established, the subject must meet two major criteria, one major and two minor criteria, or four minor criteria in different categories.23