Table 1.
Patient | Genotype | Phenotype | ||
---|---|---|---|---|
c.1453C>Ta | Cardiovascular involvement | Ocular involvement | Skeletal involvement, other features | |
Family 1 | ||||
II:2 | OC | Type B dissection 63y, rupture AAA 73y | Unknown | Unknown |
II:3 | OC | Rupture AAA 80y | Unknown | Unknown |
III:2 | Het | AAA 62y (E.S.), bilateral subclavian aneurysm 66y (E.S.), TAA 69y | None | Elongated facies, malar hypoplasia |
III:4 | Het | Type A dissection 59y | None | Malar hypoplasia, pectus carinatum, scoliosis |
III:5 | Het | Type B dissection 58y | None | None |
IV:1 | Het | TAA 46y (E.S.) | None | Pectus excavatum, pes plani |
IV:2 | Het | AAA 38y (E.S.), type B dissection 41y | None | None |
V:2 | Het | None 18y | None | None |
V:3 | Het | None 14y | None | None |
III:3 | WT | None 62y | None | None |
III:6 | WT | None 48y | None | None |
V:1 | WT | Unknown | NP | Unknown |
Family 2 | ||||
I:2 | OC | Sudden death 57y | Unknown | Unknown |
II:2 | Het | Borderline TAA 51y | Myopia>3 dpt | Span to height ratio >1.05 |
II:3 | Het | TAA 47y | None | Downslanting palpebral fissures, elbow contractures, pectus carinatum, pes plani |
II:4 | OC | Type A dissection 42y, died at 59y heart failure | Unknown | Unknown |
III:1 | Het | Type A dissection 39y, dilatation coronary artery 39y | NP | Downslanting palpebral fissures, scoliosis, pes plani |
De Vries et al. | ||||
II:1 | Het | None 43y | None | Span to height ratio >1.05, high palate |
II:2 | Het | None 43y | None | None |
II:3 | Het | None 37y | None | Span to height ratio >1.05, high palate |
II:4 | Het | Aortic root 40 mmb 40y | None | None |
III:1 | Hom | MVP 13y, distal TAA dissection 20y, TAA 22y (E.S.), died 23y | Bilateral lens subluxation, ptosis | Scoliosis, elbow contractures, pectus excavatum, highly arched palate, facial appearance, pneumothorax |
III:4 | Hom | None 13y | Bilateral lens subluxation, flat cornea | Highly arched palate, lumbosacral dural ectasia |
AAA: abdominal aortic aneurysm; E.S.: elective surgery; Het: heterozygous; Hom: homozygous; MVP: mitral valve prolapse; NP: opthalmological examination not performed; OC: obligate carrier; TAA: thoracic aortic aneurysm; WT: wild type; y: age in years.
Nomenclature FBN1 variant according to HGVS: NC_000015.9(NM_000138.4):c.1453C>T p.(Arg485Cys).
Considered normal for BSA.