Table 1 Clinical featuresand genotypes of family members
No. | Gender | Age rangs (y) | Medical history | ECG | Holter | ECHO | CMR | AC Criteria | Genotype |
|---|---|---|---|---|---|---|---|---|---|
II2 | M | 80–85 | CHD, Dual-chamber pacemaker | DDD pacing rhythm, LBBB, old MI | DDD pacing rhythm | LA enlargement | – | – | AKAP9+/−FLNC−/−DSP+/− |
II3 | F | 80–85 | HTN | PVCs | Frequent PVCs, PACs | Normal | – | – | AKAP9−/−FLNC+/−DSP−/− |
III1 | F | 55–60 | Palpitation, syncope, ICD | Normal | Frequent PVCs, NSVT | Normal | – | Fulfilled | AKAP9+/−FLNC+/−DSP+/− |
III3 | F | 50–55 | Palpitation | PVCs | – | – | RV apical myocardium thinning and fatty infiltration | Unfulfilled | AKAP9+/−FLNC−/−DSP−/− |
III5 | M | 50–55 | Asymptomatic | Normal | – | Normal | RV myocardium thinningand myocardial fatty infiltration, bi-ventricular LGE, LVEF52%, RVEF29% | Fulfilled | AKAP9−/−FLNC−/−DSP+/− |
III7 | F | 45–50 | Syncope, VT/VF, ICD | Low QRS voltages | Frequent PVCs | Normal | – | Fulfilled | AKAP9+/−FLNC+/−DSP+/− |
IV1 | F | 30–35 | Asymptomatic | Normal | – | Normal | – | – | AKAP9+/−FLNC−/−DSP−/− |
IV2 | F | 25–30 | Asymptomatic | PVCs | – | – | – | – | AKAP9−/−FLNC−/−DSP−/− |
IV3 | M | 20–25 | Asymptomatic | PVCs | – | Normal | RV myocardium thinningand myocardial fatty infiltration, bi-ventricular LGE, LVEF43%, RVEF17% | Fulfilled | AKAP9−/−FLNC−/−DSP+/− |
IV4 | M | 15–20 | Asymptomatic | Normal | – | – | – | – | AKAP9−/−FLNC+/−DSP−/− |