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Related Experiment Video

Updated: Jun 17, 2026

Adult Mouse Venous Hypertension Model: Common Carotid Artery to External Jugular Vein Anastomosis.

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A novel association between RASA1 mutations and spinal arteriovenous anomalies.

R Thiex¹, J B Mulliken, N Revencu

¹Department of Neurointerventional Radiology, Children's Hospital Boston, Harvard Medical School, Massachusetts 02115, USA.

AJNR. American Journal of Neuroradiology

|December 17, 2009

Summary

This summary is machine-generated.

Genetic mutations in RASA1 are linked to capillary malformations-arteriovenous malformations (CM-AVM) syndrome. This study identifies a new association between RASA1 mutations and spinal arteriovenous anomalies in patients with CM-AVM.

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Published on: January 17, 2013

Area of Science:

Genetics
Vascular Malformations
Neurology

Background:

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant disorder.
Mutations in the RASA1 gene are associated with CM-AVM.
Previous reports indicate arteriovenous lesions in the brain, limbs, and face in 18.5% of patients.

Purpose of the Study:

To investigate a potential association between RASA1 mutations and spinal arteriovenous anomalies.
To describe the clinical and genetic findings in patients with spinal arteriovenous anomalies and cutaneous multifocal capillary lesions.

Main Methods:

A collaborative study investigated 5 index patients with spinal arteriovenous malformations (AVMs) or arteriovenous fistulas (AVFs) and cutaneous multifocal capillary lesions.
Genetic analysis focused on identifying mutations in the RASA1 gene.

Main Results:

All 5 patients harbored RASA1 mutations (2 de novo, 3 familial).
All patients presented with multifocal capillary malformations at birth and developed neurological deficits between infancy and early adulthood.
The spinal anomalies were complex, extensive, fast-flow lesions requiring treatment.

Conclusions:

This study reports a novel association between RASA1 mutations and spinal AVMs/AVFs.
Early MR imaging screening in patients with characteristic capillary malformations and neurological symptoms may detect intraspinal arteriovenous anomalies before significant neurological damage occurs.