Table 1 Clinical diagnostic features in genetically affected individuals
ID | IV:5 | IV:6 | V:1 | V:2 | IV:7 | V:10 | V:12 | VI:1 |
|---|---|---|---|---|---|---|---|---|
Age | 53 | 51 | 48 | 43 | 48 | 29 | 18 | 24 |
Sex | F | M | M | M | F | F | M | M |
LVEDVI(ml/m2) | 55.9 | 78.5 | 61.5 | 44.1 | 43.4 | 29.2 | 42.3 | 45.2 |
LVEF (%) | 60 | 40 | 48 | 59 | 62 | 62 | 62 | 62 |
LV regional wall motion abnormality | Posterior and lateral wall | Posterior and lateral wall | Posterior and lateral wall | Posterior wall | (-) | (-) | (-) | (-) |
Reduction in segmental longitudinal strain | Posterior and lateral segments | Posterior, lateral and anterior segments | Posterior and lateral segments | Posterior and lateral segments | Lateral and septal segments | (-) | (-) | (-) |
GLS | -20.1% | -13.75% | -14.1% | -17.9% | -23% | -23% | -22.7% | -18.5% |
TMEM43 | ( +) | ( +) | ( +) | ( +) | ( +) | ( +) | ( +) | ( +) |
ECG | Low QRS voltages in limb leads | Low QRS voltages in limb leads | Low QRS voltages in limb leads, V4-V6 inverted/ flattened T waves | (-) | (-) | (-) | (-) | (-) |
Holter | Ventricular premature contractions: 1075 /24 h | Ventricular premature contractions: 15,367 /24 h, VT ( +) | Ventricular premature contractions:1075 /24 h, VT ( +) | Ventricular premature contractions: 1516 /24 h, VT ( +) | Ventricular premature contractions: 824 /24 h | Ventricular premature contractions: 3 /24 h | Ventricular premature contractions: 4 /24 h | Ventricular premature contractions: 4 /24 h |
LGE | (-) | ( +) | ( +) | ( +) | (-) | (-) | (-) | (-) |
Diagnostic Criteria | 1 M + 3 m | 2 M + 3 m | 2 M + 4 m | 2 M + 2 m | 1 M + 1 m | 1 M | 1 M | 1 M |