Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM)

Capillary Malformation-Arteriovenous Malformation syndrome (CM-AVM) is a combined vascular anomaly with characteristic features including:

Capillary malformations
Arteriovenous malformations

The capillary malformations occur as small pink lesions on the skin. They mostly appear on the face, arms and legs. These spots may be present at birth, but may appear anytime through childhood and adolescence. They do not cause any complications.

Some individuals may have the associated vascular malformation known as arteriovenous malformation (AVM). This represents an abnormal connection between the arteries, vein and capillaries. Although AVMs may occur anywhere in the body, they are most commonly seen in the brain and spine. Complications associated with AVM include bleeding, seizures, headaches and heart failure.

This condition is inherited in an autosomal dominant pattern, although cases of new mutations occur without known family history.

CM-AVM 1 is caused by a mutation in the RASAI gene while CM-AVM 2 is caused by a mutation in the EPHB4 gene.

Diagnosis

You/your child will meet with the Vascular Anomalies Center team during the initial clinic visit for a comprehensive review of the patient’s medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan.

Additional testing may include:

Ultrasound
CT
MRI (brain/body)
Selective angiography
Genetics testing for the child as well as suspected affected members of the family
Cardiology consult, if large or multiple AVMs are present