ID | SEX | AGE AT DIAGNOSIS | PHENOTYPE | TREATMENT | VARIANT 1 | VARIANT 2 | CURRENT SITUATION |
---|---|---|---|---|---|---|---|
1 | Female | 2 months | DCM | Pharmacological | R4W | A94T | LVEF 46% |
2 | Male | 2 weeks | DCM | Pharmacological | R161W | G27D | Exitus |
3 | Female | 1.5 months | DCM | Pharmacological | R161W | G27D | Transplanted |
4 | Female | 2 weeks | DCM | PharmacologicalTransplant | R242W | D308N | No transplant rejection |
5 | Female | 65 years | DCM > LVNC Short stature, kyphoscoliosis | Pharmacological | A256T | M168V | LVEF 20-27% |
6 | Female | 9 years | LVNC > DCM | Pharmacological | D308N | LVEF 50% | |
7 | Female | 9 years | LVNC > DCM | Pharmacological | D308N | LVEF 58% | |
8 | Female | 1 month | DCM > LVNC | Ventricular assist device | c.618C>T | Transplant wait list |