Is there a risk of Arteriovenous Malformation (AVM) in the brain associated with renal and liver cysts?

From the Guidelines

Renal and liver cysts are not a direct risk factor for brain arteriovenous malformations (AVMs), but certain genetic syndromes associated with these cysts, such as Tuberous Sclerosis Complex (TSC), may increase the risk of developing AVMs or other vascular abnormalities. Brain AVMs are congenital vascular abnormalities that occur when blood vessels in the brain develop abnormally, creating a direct connection between arteries and veins without the normal capillary network. According to a recent study published in 2025 1, patients with TSC are at risk of developing renal neoplasms, including angiomyolipomas (AMLs), which are benign hamartomatous lesions, and renal cell carcinoma (RCC). While the study focuses on the surveillance recommendations for TSC, it highlights the importance of monitoring for renal and other complications in patients with genetic syndromes.

Key points to consider:

• TSC is associated with an increased risk of renal neoplasms, including AMLs and RCC 1
• AMLs can develop during childhood and grow during adolescence and young adulthood, with a lifetime risk of spontaneous hemorrhage that can lead to renal failure above 20% for lesions larger than 3-4 cm 1
• Renal ultrasound (US) has high sensitivity to detect AMLs at a size for which intervention would be warranted, and is recommended for surveillance in patients with TSC 1
• Certain genetic syndromes, such as TSC, may increase the risk of developing AVMs or other vascular abnormalities, although the direct connection between renal and liver cysts and brain AVMs is not well established.

In clinical practice, if a patient has been diagnosed with multiple renal and liver cysts, it would be advisable to discuss with their healthcare provider whether genetic testing or neuroimaging might be appropriate to rule out associated conditions, such as TSC or other genetic syndromes that may increase the risk of developing AVMs or other vascular abnormalities.

From the Research

Renal and Liver Cyst Risk of AVM in Brain

• The relationship between renal and liver cysts and the risk of arteriovenous malformations (AVMs) in the brain is complex and involves various factors, including genetic predisposition and vascular abnormalities 2, 3.
• Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of kidney cysts and is associated with an increased risk of intracranial aneurysms and other vascular abnormalities 2, 3.
• Studies have shown that patients with ADPKD have a higher incidence of vascular abnormalities, including cerebral aneurysms and arteriovenous fistulas, which can increase the risk of AVMs in the brain 3, 4.
• The presence of liver cysts is also common in patients with ADPKD, and while the exact relationship between liver cysts and AVMs is not fully understood, it is thought that the vascular abnormalities associated with ADPKD may contribute to the development of AVMs 2.
• The management of AVMs in the brain typically involves surgical intervention, and the risk of adverse outcomes is higher for AVMs located in eloquent areas of the brain 5.
• The epidemiology and genetics of cerebral AVMs are complex and involve various factors, including genetic predisposition and environmental influences 6.

Vascular Abnormalities and AVMs

• Vascular abnormalities, including aneurysms and arteriovenous fistulas, are common in patients with ADPKD and can increase the risk of AVMs in the brain 3, 4.
• The molecular basis of AVM formation is not fully understood but is thought to involve focal hemodynamic conditions exacerbated by hypertension and altered flow sensing 3.
• The treatment of AVMs typically involves surgical intervention, and the risk of adverse outcomes is higher for AVMs located in eloquent areas of the brain 5.

Genetic Predisposition and AVMs

• Genetic predisposition plays a significant role in the development of AVMs, and certain genetic disorders, such as ADPKD, can increase the risk of AVMs in the brain 2, 3.
• The genetics of cerebral AVMs are complex and involve various factors, including genetic mutations and environmental influences 6.