Genetics of Arteriovenous Malformations and Regulators of Flow-Related Changes in Gene Expression

Principal Investigator: Yashar Kalani
Keywords: AVM , Genetics Department: Neurosurgery
IRB Number: 00094842 Co Investigator:  
Specialty: Neurosurgery
Sub Specialties: Neurovascular Surgery
Recruitment Status: Recruiting

Contact Information

Yashar Kalani
yashar.kalani@hsc.utah.edu
801-585-6789

Brief Summary

Arteriovenous malformations (AVMs) are rare vascular lesions and as such their biology has not been extensively studied. Although initially proposed to arise from developmental pathways gone awry, more recent data has demonstrate that these lesions may develop later in life and are dynamic, capable of regression or expansion. The bulk of the data on the genomics of arteriovenous malformations has been derived from the study of familial cases or syndromic cases such as hereditary hemorrhagic telangiectasia (HHT). Although the pathways identified in the formation of vascular malformations in HHT may be conserved in cases of sporadic AVMs, this link has not been confirmed. Sporadic or so-call isolated AVMs constitute the vast majority of AVMs identified during clinical practice. A better understanding of pathways involved in the formation of these lesions may allow for development of medical therapies for their treatment. Furthermore, identification of genetic alterations associated with the formation of these lesions may allow for their earlier detection. With the rapidly declining cost, for genomic sequencing, over 14000 fold over the past decade, genetic testing is likely to become a mainstay for diagnosis of patients with a vast array of neurological diseases. Additionally, clinical samples obtained after surgical resection of vascular malformations may assist with identification of novel pathways that may be involved in the pathogenesis and evolution of malformations. 

Inclusion Criteria

  • Age between 6 and 60 years inclusive
  • Diagnosis of Arteriovenous malformation or nuclear family member of a patient with an arteriovenous malformation
  • Granted access to saliva and/or blood 

Exclusion Criteria

  • Age greater than 60 years
  • Nuclear family members that do not share the same parents as the AVM patient