Table 1.
Patient characteristics
| Pt | Sex | Cardiological symptoms | Associated symptoms | Epilepsy | Outcome | Mutation FLNA |
|---|---|---|---|---|---|---|
| 1 | M | Mono-atrium, mitral atresia, hypoplastic LV, double outlet RV, aortic coarctation | – | – | Died age 2 m of heart failure | c.5290G>A |
| 2 | F | Aortic coarctation | Hyperlaxity skin and joints | – | Now 2 years old | c.220G>A |
| 3 | F | Severe aortic valve insufficiency | – | – | Died aged 71 years of subarachnoid hemorrhage | c.3045del5 |
| 4 | F | Mild aortic valve stenosis and regurgitation | – | + | Now 46 years old | c.3582delC |
| 5 | F | Severe aortic valve regurgitation | – | – | Now 42 years old | c.6635delTCAG |