Table 1.
Patients with left ventricular non-compaction (LVNC) and Brugada syndrome (BrS) share SCN5A mutation
| Father | Daughter | Son | |
|---|---|---|---|
| Age (years) | 61 | 37 | 33 |
| Symptoms | Asymptomatic | Asymptomatic | |
| Phenotype | LVNC with ↓EF | BrS | Early repolarization on ECG |
| SCN5A mutation | Yes | Yes | No |
| Ajmaline test | Negative | Positive | Negative |
| EPS test for VT/VF inducibility | Positive | Negative | |
| ICD | Yes | Yes | No |
A family in which a SCN5A mutation was found in both a father and daughter, but these two family members presented with different phenotypes: the father with LVNC and the daughter with BrS. The son was negative for the SNC5A mutation and presented with neither LVNC nor BrS.