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Arteriovenous malformation
An arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system. Usually congenital, this vascular anomaly is widely known because of its occurrence in the central nervous system (usually as a cerebral AVM), but can appear anywhere in the body. The symptoms of AVMs can range from none at all to intense pain or bleeding, and they can lead to other serious medical problems.
Symptoms of AVMs vary according to their location. Most neurological AVMs produce few to no symptoms. Often the malformation is discovered as part of an autopsy or during treatment of an unrelated disorder (an "incidental finding"); in rare cases, its expansion or a micro-bleed from an AVM in the brain can cause epilepsy, neurological deficit, or pain.
The most general symptoms of a cerebral AVM include headaches and epileptic seizures, with more specific symptoms that normally depend on its location and the individual, including:
Cerebral AVMs may present themselves in a number of different ways:[citation needed]
Pulmonary arteriovenous malformations are abnormal communications between the veins and arteries of the pulmonary circulation, leading to a right-to-left blood shunt. They have no symptoms in up to 29% of all cases, however they can give rise to serious complications including hemorrhage, and infection. They are most commonly associated with hereditary hemorrhagic telangiectasia.
AVMs are usually congenital and are part of the RASopathy family of developmental syndromes. The understanding of the anomaly's genetic transmission patterns are incomplete, but there are known genetic mutations (for instance in the epithelial line, tumor suppressor PTEN gene) which can lead to an increased occurrence throughout the body.[citation needed]
The anomaly can occur due to autosomal dominant diseases, such as hereditary hemorrhagic telangiectasia.
In the circulatory system, arteries carry blood away from the heart to the lungs and the rest of the body, where the blood normally passes through capillaries—where oxygen is released and waste products like carbon dioxide (CO2) absorbed—before veins return blood to the heart. An AVM interferes with this process by forming a direct connection of the arteries and veins, bypassing the capillary bed. AVMs can cause intense pain and lead to serious medical problems. Although AVMs are often associated with the brain and spinal cord, they can develop in other parts of the body.
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Arteriovenous malformation
An arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system. Usually congenital, this vascular anomaly is widely known because of its occurrence in the central nervous system (usually as a cerebral AVM), but can appear anywhere in the body. The symptoms of AVMs can range from none at all to intense pain or bleeding, and they can lead to other serious medical problems.
Symptoms of AVMs vary according to their location. Most neurological AVMs produce few to no symptoms. Often the malformation is discovered as part of an autopsy or during treatment of an unrelated disorder (an "incidental finding"); in rare cases, its expansion or a micro-bleed from an AVM in the brain can cause epilepsy, neurological deficit, or pain.
The most general symptoms of a cerebral AVM include headaches and epileptic seizures, with more specific symptoms that normally depend on its location and the individual, including:
Cerebral AVMs may present themselves in a number of different ways:[citation needed]
Pulmonary arteriovenous malformations are abnormal communications between the veins and arteries of the pulmonary circulation, leading to a right-to-left blood shunt. They have no symptoms in up to 29% of all cases, however they can give rise to serious complications including hemorrhage, and infection. They are most commonly associated with hereditary hemorrhagic telangiectasia.
AVMs are usually congenital and are part of the RASopathy family of developmental syndromes. The understanding of the anomaly's genetic transmission patterns are incomplete, but there are known genetic mutations (for instance in the epithelial line, tumor suppressor PTEN gene) which can lead to an increased occurrence throughout the body.[citation needed]
The anomaly can occur due to autosomal dominant diseases, such as hereditary hemorrhagic telangiectasia.
In the circulatory system, arteries carry blood away from the heart to the lungs and the rest of the body, where the blood normally passes through capillaries—where oxygen is released and waste products like carbon dioxide (CO2) absorbed—before veins return blood to the heart. An AVM interferes with this process by forming a direct connection of the arteries and veins, bypassing the capillary bed. AVMs can cause intense pain and lead to serious medical problems. Although AVMs are often associated with the brain and spinal cord, they can develop in other parts of the body.