Table 1 Clinical, electrocardiographic, echocardiographic and cardiac magnetic resonance data of the proband and her family members
Patient | Age (years) | ECG | Echo study | CMR | 24-hours Holter/ Exersice test | Outcome | DSP mutation status |
|---|---|---|---|---|---|---|---|
Proband II2 | 13 | T-wave inversion in anterior leads. Low QRS voltages in limb leads | normal | Not tested | Not tested/ Not tested | Syncope | hom |
15 | T-wave inversion anterior and lateral leads. Low QRS voltages in limb leads. | Mild biventricular dilatation. LVEF: 50% | Extensive ring-like subepicardial LGE of the LV and RV LGE: 35% of the LV mass | 7000 polymorphic VPBs/ Sustained ventricular tachycardia | Diagnosis of left-dominant ACM, ICD implantation, ICD appropriate discharge | ||
II1 | 18 | Non-specific T wave abnormalities, polymorphic VPBs | normal | Not tested | Not tested/ Not tested | Died during exercise. Post-mortem: LV fibrosis | hom |
I2 | 51 | Non-specific T wave abnormalities, VPBs | normal | normal | 20.000 VPBs/ Not tested | mild sense of palpitations | het |
I1 | 52 | normal | normal | Not tested | Not tested/ Not tested | Asymptomatic | het |