What are the other Names for this Condition? (Also known as/Synonyms)

• Ectasia or Varix of the Vein of Galen
• Galenic Arteriovenous Malformation
• Vein of Galen Aneurysm Malformation (VGAM)

What is Vein of Galen Aneurysm? (Definition/Background Information)

• Vein of Galen Aneurysm is a rare form of arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure
• Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings
• Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Vein of Galen Aneurysm originates during a baby's early prenatal development (usually during weeks 6-11). It involves a large vein at the base of the brain that is formed early in gestation and is normally replaced by the vein of Galen
• In children with this condition, high-pressure, high-speed blood from the arteries flows directly into this precursor vein, preventing a true vein of Galen from forming
• Vein of Galen Aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth
• The condition has been associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome, a newly recognized autosomal dominant disorder caused by mutations in the RASA1 gene in a small number of families
• The treatment of Vein of Galen Aneurysm is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization

(Source: Vein of Galen Aneurysm; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Vein of Galen Aneurysm? (Age and Sex Distribution)

• Vein of Galen Aneurysm is a rare congenital disorder. The presentation of symptoms may occur before or immediately after the birth of a baby
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Vein of Galen Aneurysm? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Vein of Galen Aneurysm

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Vein of Galen Aneurysm? (Etiology)

Although the exact cause of Vein of Galen Aneurysm remains unknown, this condition appears to result from a defect in early fetal development.

• Vein of Galen Aneurysm originates during a baby's early prenatal development (usually during weeks 6-11). It involves a large vein at the base of the brain that is formed early in gestation and is normally replaced by the vein of Galen
• In children with this condition, high-pressure, high-speed blood from the arteries flows directly into this precursor vein, preventing a true vein of Galen from forming
• The condition has been associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome, a newly recognized autosomal dominant disorder caused by mutations in the RASA1 gene in a small number of families

(Source: Vein of Galen Aneurysm; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

What are the Signs and Symptoms of Vein of Galen Aneurysm?

The signs and symptoms of Vein of Galen Aneurysm may include:

• Abnormality of the cerebral vasculature
• Dilatation
• Peripheral arteriovenous fistula

(Source: Vein of Galen Aneurysm; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Vein of Galen Aneurysm Diagnosed?

Vein of Galen Aneurysm is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies, including prenatal ultrasound in late gestational period
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Vein of Galen Aneurysm?

The complications of Vein of Galen Aneurysm may include:

• Developmental delays
• Congestive heart failure
• Stroke
• Permanent disability

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Vein of Galen Aneurysm Treated?

• The treatment for Vein of Galen Aneurysm is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain
• Minimally invasive surgical techniques are preferred, such as endovascular embolization

(Source: Vein of Galen Aneurysm; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How can Vein of Galen Aneurysm be Prevented?

• The exact cause of Vein of Galen Aneurysm is not known, and hence, there are no methods or guidelines available for its prevention
• Active research is currently being performed to explore the possibilities for treatment and prevention of conditions such as Vein of Galen Aneurysm

What is the Prognosis of Vein of Galen Aneurysm? (Outcomes/Resolutions)

• The prognosis of Vein of Galen Aneurysm is dependent upon the severity of the signs and symptoms and associated complications, if any
• An early diagnosis and prompt treatment may lead to positive outcomes
• A bleeding in the brain may cause permanent brain damage and may even be fatal

Additional and Relevant Useful Information for Vein of Galen Aneurysm:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/