Table 3.
Phenotypic characteristics and status of the GATA4 mutations in the affected pedigree members.
| Subject Information | Phenotypes | Genotypes | |||||
|---|---|---|---|---|---|---|---|
| Identity | Gender | Age at time of study (years) | Age at diagnosis of VSD (years) | VSD (mm) | Other structural defects | AVB | Mutations |
| Family 1 | Q55R | ||||||
| I-2 | F | 30 | 12 | 5 | − | +/− | |
| II-1 | F | 5 | 3 | 13 | − | +/− | |
| Family 2 | G96R | ||||||
| I-1 | M | 36 | 18 | 6 | ASD | + | +/− |
| II-1 | M | 7 | 7 | 3 | − | +/− | |
| II-3 | F | 1 | 1 | 7 | PDA | − | +/− |
| Family 3 | N197S | ||||||
| I-1 | M | 32 | 7 | 11 | PS | − | +/− |
| II-1 | F | 2 | 2 | 15 | − | +/− | |
| Family 4 | K404R | ||||||
| II-1 | M | 2 | 2 | 8 | − | +/− | |
M – male; F – female; VSD – ventricular septal defect; ASD – atrial septal defect; PDA – patent ductus arteriosus; PS – pulmonary stenosis; AVB – atrioventricular block. + indicates present and – denotes absent.