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Disease Profile

Vein of Galen aneurysm

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

Q28.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ectasia or varix of the vein of Galen; Galenic arteriovenous malformation; Vein of Galen aneurysm malformation;

Categories

Blood Diseases; Congenital and Genetic Diseases; Nervous System Diseases

Summary

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.[1][2][3] 

Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development.[1][2] Treatment 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.[1][2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the cerebral vasculature
Abnormality of the cerebral blood vessels
0100659
30%-79% of people have these symptoms
Peripheral arteriovenous fistula
0100784
Vascular dilatation
Wider than typical opening or gap
0002617
Do you have updated information on this disease? We want to hear from you.

Cause

Vein of Galen aneurysm originates during a baby's early prenatal development (usually during weeks 6-11).[1][2][3] 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.[2]

Vein of Galen aneurysm 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.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Vein of Galen aneurysm. Click on the link to view a sample search on this topic.

            References

            1. Alvarez H, Lasjaunias P. Vein of Galen aneurysm. Orphanet. March 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1053&lng=EN.
            2. Vein of Galen Malformation in Children. Boston Children's Hospital. 2016; https://www.childrenshospital.org/conditions-and-treatments/conditions/v/vein-of-galen/overview.
            3. Sheth RD. Vein of Galen Malformation. Medscape Reference. November 18, 2015; https://emedicine.medscape.com/article/1179888-overview.

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