Spectrum of congenital heart defect of the 84 patients evaluated in the present study
| Patients with PTPN11 mutations | Patients without PTPN11 mutations | ||||
|---|---|---|---|---|---|
| Heart defects | Noonan syndrome | ML/LS | Noonan syndrome | ML/LS | Total |
| *Eleven with dysplastic leaflets. | |||||
| **With dysplastic leaflets. | |||||
| †Nine with dysplastic leaflets. | |||||
| ††With dysplastic leaflets. | |||||
| ‡Associated congenital heart defect. | |||||
| Pulmonary valve stenosis | 13* | 1** | 17† | 1†† | 32 |
| Hypertrophic cardiomyopathy | 3 | 5 | 4 | 0 | 12 |
| Atrial septal defect | 2 (1‡) | 0 | 4 | 0 | 6 |
| Aortic coarctation | 0 | 0 | 4 | 0 | 4 |
| Mitral valve anomaly | (1‡) | 0 | 2 | 1 | 3 |
| Atrioventricular canal defect | 2 | 1 | 7 | 0 | 10 |
| Tetralogy of Fallot | 0 | 0 | 3 | 0 | 3 |
| Ventricular septal defects | 0 | 0 | 3 | 0 | 3 |
| No congenital heart defect | 3 | 4 | 4 | 0 | 11 |
| Total | 23 | 11 | 48 | 2 | 84 |