Table 1. Clinical details of the family members.
| Patients | A119S | Heart | Thyroid | Remarks | |||||||||
| Sex/age at evaluation (years) | CHD | ECG | Position in neck | Aspect | Volume left lobe (ml) | Volume right lobe (ml) | TSH (mE/L) | Free T4 (pmol/L) | Thyreo-globulin (pmol/L) | Anti-TPO antibodies | |||
| Family 1 | |||||||||||||
| I-1 | M/81 | + | CoA, BAV | Atrial fibrillation | Normal | Homogenous | 9.5 | 9.0 | 2.20 | 14.5 | 4 | Neg | |
| II-1 | F/51 | + | VSD | Normal | Normal | Homogenous | 4.6 | 3.3 | 3.60 | 12.7 | 9 | Neg | |
| II-2 | F/49 | − | None | Low voltages | Normal | Homogenous | 3.7 | 3.9 | 1.60 | 12.3 | 5 | Neg | |
| II-3 | M/48 | + | None | Normal | Normal | Homogenous | 5.0 | 7.5 | 2.10 | 14.4 | 6 | ND | |
| II-4 | M/10 days | ND | CoA | ND | ND | ND | ND | ND | ND | ND | ND | ND | Deceased at age 10 days |
| III-1 | F/24 | − | VSD | Rigth axis deviation | Normal | Homogenous | 2,9 | 3 | 1.70 | 13.6 | 9 | Neg | |
| III-2 | F/21 | − | None | Normal | Normal | Homogenous | 4.6 | 4.8 | 1.50 | 13.4 | 6 | Neg | |
| III-4 | F/20 | + | None | Normal | Normal | Homogenous | 3.0 | 6.0 | 1.40 | 15.3 | 6 | Neg | |
| III-5 | F/12 | + | None | Normal | Normal | Homogenous | 2.6 | 3.5 | ND | ND | ND | ND | |
| Family 2 | |||||||||||||
| I-1 | M/60 | − | None | ND | Normal | Homogenous | 4.4 | 5.9 | 1.80 | 16.2 | 4 | Neg | |
| I-2 | F/62 | + | None reported | ND | ND | ND | ND | ND | ND | ND | ND | ND | |
| II-1 | M/35 | − | None | ND | Normal | Homogenous | 6.7 | 8.9 | 1.50 | 14.2 | 6 | Neg | |
| II-2 | M/31 | + | ASDI, ASDII | RBBB | Normal | Homogenous | 5.6 | 5.0 | 1.40 | 17.0 | 2 | Pos(620 kU/l) | Homogenous solid nodule in left thyroid lobe, diameter 6 mm |
ND, not determined; neg, negative; pos, positive; CHD, congenital heart disease; CoA, aortic coarctation; BAV, bicuspid aortic valve; VSD, ventricular septal defect; ASDI, ostium primum atrial septal defect; ASDII, ostium secundum atrial septal defect; RBBB, right bundle branch block.Anti-TPO antibodies ‘negative’ means value <50 kU/l.