TABLE 1.
Clinical features of the affected family members.
| Pedigree ID | Age (year) | Treatment/Surgery/major complication/cause of death | Clinical presentation |
|---|---|---|---|
| I:1 | 36 | Sudden death (no autopsy) | Marfanoid skeletal features |
| II:1 | 33 | Sudden death (no autopsy) | Marfanoid skeletal features |
| II:2 | 32 | Sudden death (no autopsy) | Marfanoid skeletal features |
| II:4 | 34 | Sudden death (no autopsy) | Marfanoid skeletal features |
| III:1 | 28 | Sudden death (no autopsy) | Marfanoid skeletal features |
| III:3 | 28 | Debakey I dissection; Bentall surgery, aortic arch replacement, descending aortic endovascular stent-graft implantation (Alive) | Severe aortic valve insufficiency, Wrist and thumb signs, Pectus carinatum deformity, Plain pes planus, Skin striae, Myopia |
| III:5 | 32 | Debakey I dissection; Bentall surgery, aortic arch replacement, descending aortic endovascular stent-graft implantation (Alive) | Severe aortic valve insufficiency, Wrist and thumb signs, Pectus carinatum deformity, Plain pes planus, Skin striae |
| III:6 | 31 | β-adrenergic receptor blocker treatment (Alive) | Mild aortic root dilation, Mild aortic valve insufficiency, Skin striae |
| IV:1 | 8 | β-adrenergic receptor blocker treatment (Alive) | Mild aortic root dilation, Wrist and thumb signs, Pectus carinatum deformity, Skin striae, Mild scoliosis |
| IV:2 | 6 | β-adrenergic receptor blocker treatment (Alive) | Mild aortic root dilation, Wrist and thumb signs, Pectus carinatum deformity, Skin striae, Mild scoliosis |