Frequency of clinical findings in mutation-positive relatives divided into parents and siblings, compared with proband data
| Clinical findings | Relatives: parents (30) | Relatives: siblings (16) | Probands (34) |
|---|---|---|---|
| PS (pulmonary stenosis)/PPS (peripheral pulmonary stenosis): stenosis at any level in the pulmonary tree. | |||
| Structural defect: intracardiac structural defect, such as tetralogy of Fallot, excludes peripheral pulmonary stenosis alone. | |||
| Eye findings: typically posterior embryotoxon. | |||
| Liver disease | |||
| Cholestatic liver disease | 21% (5/24) | 43% (6/14) | 97% (33/34) |
| Biochemical liver abnormalities only | 21% (5/24) | 36% (5/14) | 3% (1/34) |
| No liver abnormalities | 58% (14/24) | 21% (3/14) | 0% (0/34) |
| Cardiac disease | |||
| PS/PPS | 31% (9/29) | 53% (8/15) | 82% (28/34) |
| Structural defect | 34% (10/29) | 33% (5/15) | 47% (16/34) |
| Murmur only | 34% (10/29) | 20% (3/15) | 9% (3/34) |
| No cardiac anomalies | 28% (8/29) | 27% (4/15) | 0% (0/34) |