Last update 08 May 2025

Capillary Malformation-Arteriovenous Malformation

Basic Info

Synonyms
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder), CM-AVM
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Introduction
An autosomal dominant inherited vascular disorder associated with loss of function mutations in the RASA1 or EPHB4 gene, encoding Ras GTPase-activating protein 1 or ephrin type-B receptor 4, respectively. It is characterized by cutaneous capillary malformations, often in association with arteriovenous malformations and arteriovenous fistulas, which may lead to abnormal bleeding, migraine headaches, seizures, and heart failure.

Analysis

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