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| Disease | Inherit. | Diagnosis | Phenotype |
|
| Vascular Ehlers-Danlos syndrome | AD | Biochemical analysis (skin biopsy)
COL3A1 analysis (fibroblasts) | Facial gestalt (thin nose and lips, sunken cheeks), skin fragility, extreme vascular fragility, rupture of uterus and colon
Intracerebral aneurysm, carotid/vertebral dissection |
| Type 4 collagen-related small vessel disease | AD | COL4A1 analysis (blood sample) | Infantile hemiparesis, seizures, migraine, retinal artery tortuosity, renal and muscular involvement
Small vessel ischaemic stroke or haemorrhage |
| HANAC syndrome | AD | Skin biopsy
COL4A1 analysis (blood sample) | Hereditary angiopathy with retinal artery tortuosity, cystic renal disease, cerebral aneurysm, muscle cramps |
| Osteogenesis imperfecta | AD
AR | Radiological examination
Biochemical analysis (skin biopsy)
Molecular analysis of OI genes (fibroblasts and blood sample) | Fractures, osteopenia, bone deformities, hearing loss, blue sclerae, dentinogenesis imperfecta
Intracerebral aneurysm, moyamoya-like disease, carotid/vertebral dissection |
| AD polycystic kidneys | AD | Renal ultrasonography
PKD1/2 linkage analysis (blood)
PKD1/2 molecular analysis (blood) | Bilateral renal cysts, liver and pancreas cysts, aortic dilatation/dissection
Intracranial aneurysm |
| Pseudoxanthoma elasticum | AR | Skin biopsy
ABCC6 analysis (blood sample) | Yellowish skin papules in flexural areas, retinopathy, coronary and peripheral artery disease
Ischaemic stroke in patients and heterozygous carriers |
| PXE-like syndrome | AR | Coagulation testing
Skin biopsy
GGCX analysis (blood sample) | Generalized cutis laxa, mild retinopathy, coagulation disorder
Cerebral aneurysm? |
| Marfan syndrome | AD | Revised Ghent Nosology
Fibrillin 1 analysis (blood sample) | Tall stature, arachnodactyly, pectus deformity, ectopia lentis, aortic root dilatation
Carotid artery dissection, cerebral and spinal cord infarction |
| Loeys-Dietz syndrome Type I | AD | TGFBR1 and 2 analysis (blood sample) | Marfanoid habitus, hypertelorism, cleft palate, bifid uvula, generalized arterial tortuosity and aneurysms
intracranial aneurysm, carotid and vertebral aneurysm |
| Loeys-Dietz syndrome Type II | AD | TGFBR1 and 2 analysis (blood sample) | Vascular EDS-like phenotype, generalized arterial tortuosity and aneurysms
intracranial aneurysm, carotid and vertebral aneurysm |
| Bicuspid aortic valve | AD | Echocardiography
NOTCH1 gene in familial cases (blood sample) | Bicuspid aortic valve on ultrasound
Dissection of carotid and cerebral arteries, intracranial aneurysm |
| Arterial tortuosity syndrome | AR | SLC2A10 analysis (blood sample) | Facial dysmorphism, arachnodactyly, joint and skin laxity, arterial elongation, tortuosity and aneurysms
Ischaemic stroke? |
| Supravalvular aortic stenosis | AD | ELN analysis (blood sample) | Left ventricular outflow obstruction
Ischaemic stroke |
| Williams-Beuren syndrome | AD | FISH or microarray | SVAS, facial dysmorphism, short stature
Ischaemic stroke, intracerebral haemorrhage |
| Spontaneous cervical artery dissection | AD | Clinical examination | Exclude vascular EDS, Marfan syndrome and osteogenesis imperfecta |
| Hereditary haemorrhagic telangiectasia | AD | Clinical evaluation
ENG and ALK1 analysis (blood sample) | Mucocutaneous telangiectases, epistaxis, gastrointestinal haemorrhage
Cerebral/spinal telangiectases, carotid-carvernous fistulas, ischaemic stroke or TIA, cerebral haemorrhage |
| Fibromuscular dysplasia | AD | Doppler ultrasound and angiography | String of beads in affected vascular beds
TIA and ischaemic stroke, cervicocranial dissection, intracerebral aneurysm |
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