Table 1.

Clinical details of families 1 and 2, and the previously published family (De Vries et al). Given the initial uncertainty about the pathogenicity of the variant, cardiologic and/or ophthalmologic evaluation was also performed in several individuals without the variant in family 1 (patient III:3, III:6 and V: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.

^aNomenclature FBN1 variant according to HGVS: NC_000015.9(NM_000138.4):c.1453C>T p.(Arg485Cys).

^bConsidered normal for BSA.