Table 2.
Patients with hypertrophic cardiomyopathy (HCM) and Brugada syndrome (BrS) share MYBPC3 mutation
| Father | Daughter | Son | |
|---|---|---|---|
| Age (years) | 53 | 23 | 20 |
| Symptoms | Palpitation | Asymptomatic | Asymptomatic |
| Phenotype | HCM | BrS | BrS |
| MYBPC3 mutation | Yes | Yes | Yes |
| Ajmaline test | Negative | Mild Positive | (Spontaneous BrS type 1) |
| EPS test for VT/VF inducibility | Negative | Positive | Positive |
| ICD | Yes | Yes |
A family in which a MYBPC3 mutation was found in a father, daughter, and son, but these family members presented with different phenotypes: the father with HCM and the daughter and son with BrS.