Table 1 Clinical features of patients and mutated populations
Features | Studied population (31 patientsa) | Mutated population (5 patientsa) |
|---|---|---|
Sex ratio | 1.2 | 1.5 |
 Female | 14 (45.2%) | 3 (60%) |
 Male | 17 (54.8%) | 2 (40%) |
Patient average age (range) | 6.5 years (1 month–17 years) | 7.66 (4 months–13 years) |
Congenital heart disease | 21 (84%) | 4 (80%) |
 Pulmonary valvular stenosis | 15 (71.4%) | 4 (100%) |
 Atrial septal defect | 5 (23%) | 1 (25%) |
 Dilated cardiomyopathy | 1 (4.7%) | 0 (0%) |
Normal heart | 4 (16%) | 1 (20%) |
Consanguinity | 9 (36%) | 3 (60%) |
Reproductive average age (range) | ||
 Maternal reproductive average age | 31 years (19–42) | 29 years (22–38) |
 Paternal reproductive average age | 40 years (23–49) | 38 years (30–49) |