Table 3 Clinical information relating to vEDS for SCAD-vEDS cohort (n = 10).
Case | Age at last FU/Sex | Age of vEDS diagnosis | vEDS known at time of SCAD event | Variant (pathogenicity) | Family History of vEDS/vEDS features | vEDS features | Imaging results |
|---|---|---|---|---|---|---|---|
1 | 44 y/F | 28 | Yes | c.2492 G > A p.(Gly831Asp) ACMG: PM2, PS4_mod, PM1_str, PP3 (class 4) | No | Unilateral CDH; easy bruising; age 9 anterior cruciate ligament rupture; age 27 haemorrhagic rupture of liver cyst; age 28 right peroneal artery aneurysm; age 29 coronary rupture during angiography, right iliac artery dissection post-angiogram; multiple courses of PGD/IVF – age 32 splenic artery aneurysm rupture after hormonal stimulation; age 38 dissection of infra-renal aorta complicated by sigmoid volvulus; age 44, right-sided infra-renal dissection | Age 44: CTA - Iliac artery aneurysms |
2 | 43 y/F | 38 | No | c.2177 G > T p.(Gly726Val) ACMG: PM2, PS4_mod, PM5_str, PM1_str, PP3 (class 5) | No | Easy bruising, hypermobility, prominent eyes; | Age 42: MRA neck to pelvis - normal |
3 | 60 y/M | 51 | No | c.382 C > T p.(Gln128*) ACMG: PM2, PVS1 (class 5 | Yes | Varicose veins – 20 s; easy bruising; | Age 59: MRA neck to pelvis - infrarenal aortic aneurysm 4.5 cm; common iliac 2.7 cm |
4 | 45 y/F | 41 | No | c.2329 G > C p.(Gly777Arg) ACMG: PM2, PS4_sup, PM1_str, PP3 (class 4) | Yes | Easy bruising, facial features of vEDS, joint pain, TMJ dislocation; | Age 44: MRA neck to pelvis - normal |
5 | 38 y/M | 34 | No | c.1996G>A p.(Gly666Ser) ACMG: PM1_str, PM5, PP3 (class 4) | Yes | Nil | Age 37: MRA neck to pelvis - 9 mm pseudoaneurysm right vertebral artery and tortuous splenic artery |
6 | 47 y/F | 43 | No | c.970 G > A p.(Gly324Ser) ACMG: PM2, PS4_mod, PM1_str, PP3 (class 4) | Yes | Uterine prolapse; hysterectomy with significant prolapse | Age 43: MRA neck to pelvis – normal Age 46: CT – small aneurysm of left vertebral artery; 3 mm increase in aortic root dimension in 3 years and 5 mm |
7 | 40 y/F | - | NA | c.712 C > T p.(Arg238*) ACMG: PM2, PVS1 (class 5) | Unknown | Scoliosis; subconjunctival haemorrhages | Age 33: MRA brain to pelvis – tortuous anatomy of cervical arteries; tonsillar left carotid artery |
8 | 48 y/F | 48 | No | c.2959 G > A p.(Gly987Ser) ACMG: PM2, PS4_mod, PM1_str, PP3 (class 4) | Yes | Amniotic band syndrome (fingers) with aged appearance to hands, unilateral congenital talipes, easy bruising, distal hypermobility and subluxations, thinning of scalp hair, facial features, skin translucency, flat feet | Age 47: CT thorax and abdomen – mildly dilated aortic root (41 mm at level of PA) CTA head and neck enlarged dysplastic right internal carotid artery with a small pseudoaneurysm at C1 level; also possible narrowing at level of left V4 segment of vertebral artery – suspicious of an old vertebral artery dissection (h/o associated trauma) |
9 | 50 y/F | 50 | No | c.2627 G > C p.(Gly876Ala) ACMG: PM1_str, PM2_mod, PP3 (class 4) | Yes (at time of review, but not at time of SCAD event) | Nil | Unknown |
10 | 52 y/F | 41 | Yes | c.1618 G > A p.(Gly540Arg) ACMG:PM1_str PM2, PS4_mod, PP3, PP4 (class 5) | Yes | Achilles’ tendon tears and dislocations Bilateral varicose veins Easy bruising Sparse hair | Age 42: medial splenic artery aneurysm; renal artery aneurysm; mild dilatation in lower internal carotid and carotid bulb |
