Epidemiology of Cerebral Arteriovenous Malformations in Children

Incidence and Prevalence

• 0.89 to 1.34 per 100,000 person-years: Incidence rate estimates range from 0.89 to 1.34 cases per 100,000 person-years (3,4,32,33).
• 5.47 to 18 per 100,000: Prevalence estimates range from 5.47 to 18 cases per 100,000 people (4,5,6).
• 0.02% prevalence in children: The pediatric age group comprises 12% to 18% of all AVMs from major centers, and the overall prevalence in children is about 0.02% of the pediatric population (34,35,36,37).

Age Distribution

• Mean age at diagnosis is 31.2 years: Most AVMs are diagnosed in patients aged between 20 and 40 years (38). In a large cohort study, 31.2 years was the mean age at diagnosis (39).
• 18% to 20% present prior to age 15: An estimated 18% to 20% of patients with symptomatic AVMs present prior to age 15 years (38).

Sex Predilection

• None: There is no sex predilection for pediatric cerebral AVMs (40).

Geographic Distribution

• None known: There are no data supporting any variance in incidence as a function of geographic location.

Risk Factors

• Genetic risk factors: The understanding of genetic risk factors is evolving but seems related primarily to dysfunction in the regulation of genes linked to inflammation, angiogenesis, vasculogenesis, cell migration, and the cytoskeletal system (41).

Relationships to Other Disease States and Syndromes

• HHT: HHT, also known as Osler-Weber-Rendu syndrome, is the most common cause of multiple cerebral AVMs (42). A meta-analysis found the prevalence of cerebral AVMs in patients with HHT to be 10.4%, with 42.2% of HHT AVM patients having multiple AVMs (43).
• CM-AVM syndrome: CM-AVM due to RASA1 mutations has been associated with intracranial AVMs and other vascular malformations (44).
• Other genetic syndromes: Klippel-Trénaunay syndrome (associated with PIK3CA mutations), Parkes Weber syndrome (often associated with RASA1 mutations), and cerebrofacial arteriovenous metameric syndrome have been associated with intracranial AVMs (41).