A novel association between RASA1 mutations and spinal arteriovenous anomalies

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.