Table 1.
Phenotypic Penetrance
| Cardiac Anomaly | No. of Hearts with Anomaly/Total Adamts9 heterozygotes Examined | Penetrance (%) |
|---|---|---|
| Condrogenic-like Nodules | 5/17 | 29 |
| Aortic Valves | 8/15 | 53 |
| Aortic Wall | 11/15 | 73 |
| Elastic fiber anomalies | 4/15 | 27 |
| Other anomalies (cell infiltration, versican accumulation, thickened adventitia) | 7/15 | 47 |
| Mitral Valve Anomaly | 8/17 | 47 |
| Nodules | 3/17 | 18 |
| Myxomatous change | 5/17 | 29 |
| Ventricular myocardial anomalies | 12/14 | 86 |