Epidemiology of Vein of Galen Malformations in Children

Incidence and Prevalence

• Poorly described epidemiology: The true incidence and prevalence of VOGM is unknown. A recent report estimated the incidence of VOGM in Germany to be 1 in 58,100 live births (31).

Age Distribution

• Typically presents in neonates and infants: As VOGM is a congenital lesion, it may be detected on routine prenatal ultrasound scans, and patients typically present as neonates or infants (32).
• Older children and adults may present with VOGM: Rarely, older children or adults may present with VOGM, although this is a delayed diagnosis of the congenital lesion (33-35). These cases may involve mild symptoms that are initially not evaluated, such as mild headaches or mild neurodevelopmental delay. A 65-year-old patient with new diagnosis of a calcified, thrombosed VOGM has been reported (36).

Sex Predilection

• Unconvincing evidence of a sex predilection: Although some reports have suggested a male predilection, convincing evidence for a sex predilection for VOGM does not exist.

Geographic Distribution

• Likely no geographic variance, but disparities in detection may exist: The incidence of VOGM does not appear to differ as a function of geographic location. However, it may be discovered more frequently in nations with robust health care systems or where prenatal ultrasound is readily available.

Risk Factors

• Possible genetic risk factors: Risk factors for this congenital lesion are unknown. However, several genetic variants have been associated with VOGM (12).

Relationships to Other Disease States and Syndromes

• Association with certain Mendelian disorders: Most cases of VOGM are sporadic. Rarely, however, VOGM may be associated with Mendelian disorders such as CM-AVM and HHT (37).
• Association with congenital heart defects and genes associated with cardiac development: In many cases, VOGM may be associated with congenital heart anomalies such as ASD, VSD, and coarctation of the aorta (38). Some of the structural defects are attributable to the abnormal hemodynamics of the high-flow shunt, which also induces high-output right-heart failure. Overlaps have been identified between the genes that are associated with VOGM and cardiac development in animal models. However, it is unclear whether VOGM and congenital heart disease share common molecular/genetic etiologies.
• Importance of screening for congenital heart defects: Screening for congenital heart defects in patients presenting with VOGM is standard practice.