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Condition report · Cardiovascular

Hereditary Vascular Malformations

Inherited conditions that cause abnormal blood vessels in the skin and sometimes deeper in the body. Some carry a risk of fast-flow malformations in the brain or spine.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Capillary Malformation-Arteriovenous Malformation Syndrome

Autosomal dominant

A condition caused by changes in RASA1 or EPHB4 that causes multiple small pink-red skin marks and, in some people, fast-flow arteriovenous malformations in the brain, spine or limbs.

What a diagnosis changes

Knowing about it supports brain and spine imaging and screening of relatives.

Genes analysed

Also known as

capillary malformation-arteriovenous malformation; CM-AVM; CM-AVM syndrome; CMAVM

Includes 2 related subtypes ↓
  • capillary malformation-arteriovenous malformation 1
  • capillary malformation-arteriovenous malformation 2
MONDO:0012016Orphanet 137667MedGen 334007

EPHB4-Associated Vascular Malformation Spectrum

Autosomal dominant

A range of vascular and lymphatic malformations caused by changes in EPHB4, from skin capillary marks to arteriovenous malformations.

Genes analysed

Includes 2 related subtypes ↓
  • capillary malformation-arteriovenous malformation 2
  • lymphatic malformation 7
MONDO:0700080

Glomuvenous Malformation

Autosomal dominant

A condition caused by changes in GLMN that causes multiple bluish, often tender, skin lumps made of abnormal veins.

Genes analysed

Also known as

familial glomangioma; GVM; hereditary glomangioma; hereditary multiple glomangiomas; multiple glomus tumors; multiple glomus tumours; Venous malformations with glomus cells; VMGLOM

MONDO:0007672OMIM 138000Orphanet 83454MedGen 374834

Multiple Cutaneous and Mucosal Venous Malformations

Autosomal dominant

A condition caused by changes in TEK that causes multiple small bluish venous malformations in the skin and lining of the mouth or gut.

Genes analysed

Also known as

cutaneous and mucosal venous malformation; VMCM

MONDO:0010842OMIM 600195Orphanet 2451MedGen 325026

Limitations

  • Many vascular malformations are caused by changes present only in the affected tissue (somatic or mosaic changes), which are not detected by a test on blood or saliva.

Other cardiovascular conditions

All conditions →

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