Table 1:
Situs and cardiac features of PCD patients carrying DNAH5 mutations suffering from SA
| ID | Age (years) | Gender | overall situs* | congenital cardiac defects | ||
|---|---|---|---|---|---|---|
| septal defects | valve defects | vessel defects | ||||
| CHD-1 | 16 | f | SS | ASD | - | - |
| CHD-2 | 3 | m | SS | ASD | - | - |
| CHD-3 | 22 | f | SS | ASD | - | - |
| CHD-4 | 26 | m | SI | VSD | subpulmonary stenosis | DORV |
| CHD-5 | 12 | f | SI | VSD | - | - |
| CHD-6 | n/a | m | SI | VSD | - | - |
| CHD-7 | 17 | m | SI | ASD, VSD | pulmonary atresia | transposition of great vessels |
| CHD-8 | 35 | f | SI thoracalis | AVSD (TOF) | subpulmonary stenosis (TOF), insufficiency of the shared AV valve | overriding aorta (TOF) |
| PS-1 | n/a | f | SS + isolated polysplenia | - | - | - |
| PS-2 | n/a | f | SI + isolated polysplenia | - | - | - |
ASD: atrial septal defect; AV: atrial ventricular; AVSD: atrial ventricular septal defect; DORV: double outlet right ventricle; f: female; m: male; n/a: data not available; PS: polysplenia SI: situs inversus; SS: situs solitus; TOF: tetralogy of Fallot; VSD: ventricular septal defect
*
In general, we define situs ambiguus as any laterality defect other that SIT. In this specific table under the term “overall situs” we indicate the positioning of the majority of organs.