Internal carotid absence

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Overview

Internal carotid absence (also known as agenesis of the internal carotid artery or congenital absence of the internal carotid artery) is a rare vascular anomaly in which one or both internal carotid arteries fail to develop during embryogenesis. The internal carotid arteries are major blood vessels that supply blood to the brain, and their absence requires the development of collateral circulation pathways to maintain adequate cerebral blood flow. This condition primarily affects the cerebrovascular system and may involve the circle of Willis, which often shows compensatory enlargement of other vessels such as the contralateral internal carotid artery, the vertebrobasilar system, or persistent embryonic anastomotic channels (such as a persistent trigeminal artery). Many individuals with internal carotid absence remain asymptomatic throughout life due to adequate collateral blood supply to the brain. However, some patients may present with headaches, transient ischemic attacks (TIAs), stroke, subarachnoid hemorrhage (due to associated intracranial aneurysms that develop from increased hemodynamic stress on collateral vessels), or seizures. The condition is often discovered incidentally during neuroimaging performed for other reasons. A characteristic finding on imaging is the absence or hypoplasia of the carotid canal on CT of the skull base, which distinguishes true congenital absence from acquired occlusion. There is no specific curative treatment for internal carotid absence itself, as it is a congenital anatomical variant. Management focuses on surveillance and treatment of associated complications, particularly intracranial aneurysms, which occur at a higher frequency in affected individuals compared to the general population. Patients may require regular neurovascular imaging to monitor for aneurysm development. When aneurysms are detected, standard neurosurgical or endovascular interventions may be employed. Antiplatelet therapy or other stroke-prevention strategies may be considered in patients who present with cerebrovascular symptoms.

Clinical phenotype terms— hover any for plain English:

Subarachnoid hemorrhageHP:0002138Cerebral ischemiaHP:0002637Dilatation of the cerebral arteryHP:0004944Arachnoid cystHP:0100702
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Internal carotid absence.

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No actively recruiting trials found for Internal carotid absence at this time.

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No specialists are currently listed for Internal carotid absence.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Internal carotid absence.

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Community

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Common questions about Internal carotid absence

What is Internal carotid absence?

Internal carotid absence (also known as agenesis of the internal carotid artery or congenital absence of the internal carotid artery) is a rare vascular anomaly in which one or both internal carotid arteries fail to develop during embryogenesis. The internal carotid arteries are major blood vessels that supply blood to the brain, and their absence requires the development of collateral circulation pathways to maintain adequate cerebral blood flow. This condition primarily affects the cerebrovascular system and may involve the circle of Willis, which often shows compensatory enlargement of othe

How is Internal carotid absence inherited?

Internal carotid absence follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.