Table 1 Summary of the main clinical features of the ATS patients described in this study
| Â | Patient 1 | Patient 2 | Patient 3 | Patient 4 |
|---|---|---|---|---|
Italian (M/14) | Macedonian (M/8) | Macedonian (M/6) | Italian (M/died at 26 months of age) | |
Age of onset/presenting symptom(s) | Birth/cyanosis, congenital RV hypertension due to PAS | 1 month/cyanosis | 3 months/respiratory failure and cyanosis due to PAS | First months/cyanosis after feeding |
Dysmorphisms | ||||
Elongated face | + | + | + | Â |
Scaphocephaly (mild) | + | - | - | Â |
Beaked nose | + | + | + | Â |
Micro-retrognathia | + | + | + | Â |
High-arched palate | - | + | + | Â |
Uvula abnormalities | + | + (bifid) | + (elongated) | Â |
Skin | ||||
Doughy | + | + | + | Â |
Hyperextensible | + | - | - | Â |
Atrophic scars | + | + | - | Â |
Cardiovascular | ||||
Tortuosity | PA, Brachiocephalic vessels | Intraparenchymal PA, aortic arch, ascending aorta, brachiocephalic vessels | Intraparenchymal PA, aortic thoracic tract | PA, supra-aortic vessels, aortic arch |
Pulmonary arteries defects | Stenotic peripheral PA | Marked tortuosity of intraparenchymal PA, stenosis of pulmonary branches | Tortuosity of intraparenchymal PA, dilatation of main PA and central branches | Tortuosity of PA, dilatation of pulmonary trunk |
RV hypertension | + Birth | - | + 50 mmHg | + 110 mmHg |
RV anomalies | + | + Dilatation | + Hypertrophy, left ventricle compression | + Dilatation |
Valvular regurgitation | Mitralic, mild | Tricuspidal, mild | Tricuspidal, mild | Tricuspidal, mild |
Surgery | Reconstructive surgery of pulmonary vessels at 1 years; stenting of PA at 2 years | - | - | Reductive pulmonary arterioplasty with stenting of PA branches |
Easy bruising | + | + | + | Â |
Other | ||||
Hypertrophic pyloric stenosis | + | - | - | - |
Keratoconus | + | - | - | Â |
Joint hypermobility (Beighton score) | - | + (7/9) | + (5/9) | Â |