Table 1.

Case series

Case no.	Age (years)	Sex	sCFF side	Treatment	Outcome	IMT (mm)	COL3A1 variant cDNA	Protein	Type
1	34	F	Left	ICA sacrifice	Alive	0.383	c.665G>A	p.(Gly222Asp)	Glycine
2	30	F	Right	CCF closure (embolization)	Alive	0.354	c.2735G>A	p.(Gly912Asp)	Glycine
3	13	F	Left	CCF closure (embolization)	Alive	0.339	c.951+1G>A	p.?	Splice
4	21	F	Left	CCF closure (embolization)	Alive	0.372	c.2553+1G>A	p.?	Splice
5	33	F	Right	CCF closure (embolization)	Alive	0.394	c.1662+1G>A	p.?	Splice
6	42	F	Left	ICA sacrifice	Alive	0.387	c.3441_3485dup	p.(Lys1150_Gly1164dup)	Duplication
7	27 31	F	Right Left	CCF closure (embolization)	Died aged 38	0.319	c.2222G>A	p.(Gly741Asp)	Glycine
8	38	F	Right	CCF closure (embolization)	Alive	0.503	c.2095G>C	p.(Gly699Arg)	Glycine
9	25	F	Right	CCF closure (embolization)	Alive	NR	c.898-1G>C	p.?	Splice
10	36	F	Right	CCF closure (embolization)	Alive	0.435	c.2293G>C	p.(Gly252Arg)	Glycine
11	28	M	Right	CCF closure (embolization)	Alive	NR	c.[1347+1G>A];[=]	p.?	Splice
12	49	F	Right	CCF closure (embolization)	Alive	0.417	c.755G>T	p.(Gly252Val)	Glycine
13	41	F	Left	Died before treatment	Died aged 41	NR	c.826G>A	p.(Gly276Ser)	Glycine
Case no.	Age at molecular diagnosis (years)		1st vascular event	Age at 1st vascular event (years)	Acute arterial events (other than sCCF)	1st digestive event	Age at 1st digestive event (years)
1	38		sCCF	34	Yes	Incisional hernia	32
2	35		sCCF	30	Yes	–	–
3	32		sCCF	13	Yes	Postoperative adhesive intestinal obstruction	25
4	22		sCCF	21	No	–	–
5	28		sCCF	33	Yes	Intestinal perforation	21
6	38		AR	33	Yes	–	–
7	28		sCCF	27	Yes	Diverticulitis	26
8	32		sCCF	38	Yes	–	–
9	25		sCCF	25	Yes	Occlusion on paresis	25
10	45		AVF	24	Yes	–	–
11	28		sCCF	28	No	–	–
12	49		AR	48	Yes	Sigmoiditis	48
13	40		ADO	21	Yes	–	–

sCCF spontaneous carotid-cavernous fistula, F female, ICA internal carotid artery, IMT intima-media thickness, M male, NR not reported, ADO arterial dissection and occlusion, AR arterial rupture, AVF arteriovenous fistula