Rare diseases · Sign or symptom

Vein of Galen aneurysmal malformation

HP:0030713

What it means

Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.

The most common vascular CNS anomaly in the fetal brain is the vein of Galen malformation. At prenatal US, an anechoic cystic mass is seen in the midline, superior and posterior to the third ventricle and thalamus. Color and spectral Doppler imaging demonstrate the presence of low-resistance flow and a turbulent waveform. Blood flow may be seen draining posteriorly into the venous sinuses. See Figure 13 of PMID:32706613.

Rare diseases that can present with this2

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Median prosencephalic arteriovenous fistula · Vein of Galen aneurysm · Vein of Galen malformation

Vein of Galen aneurysmal malformation

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.