Carotid agenesis is a vascular anomaly in which the carotid artery, normally present in the neck, does not develop during embryogenesis. [1] The common carotid artery splits into the external carotid artery and internal carotid artery, with the internal carotid artery supplying blood flow to areas of the brain. Carotid agenesis can involve either the right carotid artery, left carotid artery, or both. [2] Fewer than 1,000 people in the U.S. have been diagnosed with this disease and it is often found incidentally on imaging. [2]
Symptoms and diagnosis
Patients can be asymptomatic, but symptoms include neurological symptoms such as headaches, dizziness, blurred vision, seizures, muscle weakness, or paralysis of cranial nerves. [2] Those with carotid agenesis are also at an increased risk of aneurysms. [1] Diagnosis is typically made through imaging studies such as magnetic resonance angiography (MRA) or computed tomography angiography (CTA). [3] These tests can visualize the absence of the carotid artery and the compensatory blood flow through other vessels. An important distinction seen on imaging between carotid agenesis and carotid hypoplasia is the complete absence of the carotid canal in carotid agenesis. [3] Additional imaging studies may be necessary to evaluate the extent of the anomaly and the presence of any other associated abnormalities.
Treatment
Currently, there are no specific treatment options for carotid agenesis. This is primarily because carotid agenesis may be an incidental finding in a patient that is asymptomatic due to collateral blood flow that develops through the vertebrobasilar system. [3] [4] Treatment is therefore focused on managing the neurological symptoms of the disease, including medications to treat blood pressure, cholesterol, or blood thinners to prevent the formation of blood clots. Additionally, treatment can address improving flow through collateral pathways through vascular reconstruction surgery or stenting. [5]
References
- ^ a b "GARD Rare Disease Information - Internal carotid agenesis - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-04-21.
- ^ a b c "Internal carotid agenesis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-04-21.
- ^ a b c Li, Shuo; Hooda, Kusum; Gupta, Nishant; Kumar, Yogesh (April 2017). "Internal carotid artery agenesis: A case report and review of literature". The Neuroradiology Journal. 30 (2): 186–191. doi: 10.1177/1971400917692162. ISSN 1971-4009. PMC 5433594. PMID 28424012.
- ^ McLaurin, Robert L. (August 1969). "Congenital anomalies of the carotid arteries. Including the carotid-basilar and carotid-vertebral anastomoses. An angiographic study and a review of the literature. T. A. Lie. Excerpta Med. Found., Amsterdam. 143 pp. 1968". Teratology. 2 (3): 247. doi: 10.1002/tera.1420020309. ISSN 0040-3709.
- ^ Kulhari, Ashish; Singh, Amrinder; Fourcand, Farah; Zacharatos, Haralabos; Mehta, Siddhart; Kirmani, Jawad F. (2023-03-24). "Internal Carotid Artery Agenesis: A Rare Entity". Cureus. 15 (3): e36640. doi: 10.7759/cureus.36640. ISSN 2168-8184. PMC 10123330. PMID 37101994. S2CID 257742582.
Carotid agenesis is a vascular anomaly in which the carotid artery, normally present in the neck, does not develop during embryogenesis. [1] The common carotid artery splits into the external carotid artery and internal carotid artery, with the internal carotid artery supplying blood flow to areas of the brain. Carotid agenesis can involve either the right carotid artery, left carotid artery, or both. [2] Fewer than 1,000 people in the U.S. have been diagnosed with this disease and it is often found incidentally on imaging. [2]
Symptoms and diagnosis
Patients can be asymptomatic, but symptoms include neurological symptoms such as headaches, dizziness, blurred vision, seizures, muscle weakness, or paralysis of cranial nerves. [2] Those with carotid agenesis are also at an increased risk of aneurysms. [1] Diagnosis is typically made through imaging studies such as magnetic resonance angiography (MRA) or computed tomography angiography (CTA). [3] These tests can visualize the absence of the carotid artery and the compensatory blood flow through other vessels. An important distinction seen on imaging between carotid agenesis and carotid hypoplasia is the complete absence of the carotid canal in carotid agenesis. [3] Additional imaging studies may be necessary to evaluate the extent of the anomaly and the presence of any other associated abnormalities.
Treatment
Currently, there are no specific treatment options for carotid agenesis. This is primarily because carotid agenesis may be an incidental finding in a patient that is asymptomatic due to collateral blood flow that develops through the vertebrobasilar system. [3] [4] Treatment is therefore focused on managing the neurological symptoms of the disease, including medications to treat blood pressure, cholesterol, or blood thinners to prevent the formation of blood clots. Additionally, treatment can address improving flow through collateral pathways through vascular reconstruction surgery or stenting. [5]
References
- ^ a b "GARD Rare Disease Information - Internal carotid agenesis - National Organization for Rare Disorders". rarediseases.org. 2022-06-16. Retrieved 2023-04-21.
- ^ a b c "Internal carotid agenesis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-04-21.
- ^ a b c Li, Shuo; Hooda, Kusum; Gupta, Nishant; Kumar, Yogesh (April 2017). "Internal carotid artery agenesis: A case report and review of literature". The Neuroradiology Journal. 30 (2): 186–191. doi: 10.1177/1971400917692162. ISSN 1971-4009. PMC 5433594. PMID 28424012.
- ^ McLaurin, Robert L. (August 1969). "Congenital anomalies of the carotid arteries. Including the carotid-basilar and carotid-vertebral anastomoses. An angiographic study and a review of the literature. T. A. Lie. Excerpta Med. Found., Amsterdam. 143 pp. 1968". Teratology. 2 (3): 247. doi: 10.1002/tera.1420020309. ISSN 0040-3709.
- ^ Kulhari, Ashish; Singh, Amrinder; Fourcand, Farah; Zacharatos, Haralabos; Mehta, Siddhart; Kirmani, Jawad F. (2023-03-24). "Internal Carotid Artery Agenesis: A Rare Entity". Cureus. 15 (3): e36640. doi: 10.7759/cureus.36640. ISSN 2168-8184. PMC 10123330. PMID 37101994. S2CID 257742582.