Vascular malformation | |
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Other names | Vascular giantism or Lymphangioma |
Specialty | Cardiovascular |
Treatment | In low-flow lesions, sclerotherapy can be extremely effective, either alone, in small lesions, or combined with surgical resection or embolization, in larger lesions. [1] |
A vascular malformation is a type of vascular anomaly. [2] They may cause aesthetic problems as they have a growth cycle, and can continue to grow throughout life.
Vascular malformations of the brain include those involving capillaries, and those involving the veins and arteries. Capillary malformations in the brain are known as cerebral cavernous malformations or capillary cavernous malformations. Those involving the mix of vessels are known as cerebral arteriovenous malformations (AVMs or cAVMs). The arteriovenous type is the most common in the brain. [3]
The International Society for the Study of Vascular Anomalies (ISSVA) classification has 5 types of Vascular Malformation.
Simple | Combined | Of Major Named Vessels | Associated with Other Anomalies |
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Capillary malformations | Defined as two or more vascular malformations found in one lesion. | Abnormalities in the origin/course/number of major blood vessels that have anatomical names | Syndromes in which vascular malformations are complicated by symptoms other than vascular anomalies |
Lymphatic malformations | |||
Venous malformations | |||
Arteriovenous malformations* | |||
Arteriovenous fistula* |
* denotes high-flow malformation
Vascular malformations can also be divided into low-flow and high-flow types. [2] Low-flow malformations involve a single type of blood or lymph vessel, and are known as simple vascular malformations; high-flow malformations involve an artery. There are also malformations that are of mixed-flow involving more than one type of vessel, such as an arteriovenous malformation. [2] Low-flow vascular malformations include capillary malformations, venous malformations, and lymphatic malformations. [4]
Capillary malformations involve the capillaries, and are the most common type. They used to refer only to port-wine stains but now include others. [2] Capillary malformations are limited to the superficial layers of the skin but they can thicken, become nodular, and sometimes become disfiguring. [5] It has been proposed that the category of capillary malformations, also called vascular stains, be classified into seven major clinical types including nevus flammeus nuchae also known as nevus simplex, commonly known as stork bite or salmon patch. [6]
A capillary malformation is also a feature of the disorder macrocephaly-capillary malformation. [7] An example of capillary malformation is cerebral cavernous malformations. This disease is linked to the central nervous system (brain, eye, spinal cord). They are abnormal clusters of closely packed, thin-walled blood vessels that usually form caverns. The lesions contain slow-moving or clotted blood. Lesions in the brain and spinal cord are particularly fragile and likely to bleed. [8]
Lymphatic malformations are congenital, developing from badly-formed lymphatic vessels in early embryonic development. [9] Abnormal development of the lymph vessels results in their failure to connect and drain into the venous system. [9]
These lymph vessels can become blocked due to the collection of lymph which forms a cyst as a mass, and are known as lymphatic malformationss. They can be macrocystic, microcystic, or a combination of the two. [9] Macrocystic have cysts greater than 2 cubic centimetres (0.12 cu in), and microcystic lymphatic malformation have cysts that are smaller than 2 cubic centimetres (0.12 cu in). [10]
A severe venous malformation is known as a lymphaticovenous malformation that also involves the lymph vessels. [11]
Venous malformations are the type of vascular malformation that involves the veins. They can often extend deeper from their surface appearance, reaching underlying muscle or bone. [12] In the neck they may extend into the lining of the mouth cavity or into the salivary glands. [11] They are the most common of the vascular malformations. [13] A severe venous malformation can involve the lymph vessels as a lymphaticovenous malformation. [11]
Arteriovenous malformations occur between an artery and a vein.
In the brain a cerebral arteriovenous malformation causes arterial blood to be directly shunted into the veins as there is an absence of a capillary bed. This carries a high risk of an intracranial hemorrhage. [14]
Combined types are defined as two or more vascular malformations found in one lesion. Examples of combined types include lymphatic-venous malformation (LVM) or capillary-venous-arteriovenous malformation (VAVM).
The International Society for the Study of Vascular Anomalies (ISSVA) classification is a basic and systematic classification of vascular anomalies with international acceptance. As such terms such as "Lymphangioma" and "Cystic Hygroma", which were used widely in the past, are outdated. Newer research may only reference ISSVA terminology and, as a consequence, sources of information can be missed by doctors and patients unaware of the ISSVA convention.
ISSVA name | Outdated names |
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Lymphatic malformation | Lymphangioma, Cystic hygroma, Lymphangioma circumscriptum, Cavernous lymphangioma, lymphangiomatosis |
Venous malformation | Caveronous Hemangioma |
Capillary Malformation | Port-wine strain, Capillary hemangioma |
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, 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.
A cerebral arteriovenous malformation is an abnormal connection between the arteries and veins in the brain—specifically, an arteriovenous malformation in the cerebrum.
Veins are blood vessels in the circulatory system of humans and most other animals that carry blood towards the heart. Most veins carry deoxygenated blood from the tissues back to the heart; exceptions are those of the pulmonary and fetal circulations which carry oxygenated blood to the heart. In the systemic circulation, arteries carry oxygenated blood away from the heart, and veins return deoxygenated blood to the heart, in the deep veins.
Edema, also spelled oedema, and also known as fluid retention, dropsy and hydropsy, is the build-up of fluid in the body's tissue, a type of swelling. Most commonly, the legs or arms are affected. Symptoms may include skin that feels tight, the area feeling heavy, and joint stiffness. Other symptoms depend on the underlying cause.
Cerebral cavernous malformation (CCM) is a cavernous hemangioma that arises in the central nervous system. It can be considered to be a variant of hemangioma, and is characterized by grossly large dilated blood vessels and large vascular channels, less well circumscribed, and more involved with deep structures, with a single layer of endothelium and an absence of neuronal tissue within the lesions. These thinly walled vessels resemble sinusoidal cavities filled with stagnant blood. Blood vessels in patients with cerebral cavernous malformations (CCM) can range from a few millimeters to several centimeters in diameter. Most lesions occur in the brain, but any organ may be involved.
The lymphatic vessels are thin-walled vessels (tubes), structured like blood vessels, that carry lymph. As part of the lymphatic system, lymph vessels are complementary to the cardiovascular system. Lymph vessels are lined by endothelial cells, and have a thin layer of smooth muscle, and adventitia that binds the lymph vessels to the surrounding tissue. Lymph vessels are devoted to the propulsion of the lymph from the lymph capillaries, which are mainly concerned with the absorption of interstitial fluid from the tissues. Lymph capillaries are slightly bigger than their counterpart capillaries of the vascular system. Lymph vessels that carry lymph to a lymph node are called afferent lymph vessels, and those that carry it from a lymph node are called efferent lymph vessels, from where the lymph may travel to another lymph node, may be returned to a vein, or may travel to a larger lymph duct. Lymph ducts drain the lymph into one of the subclavian veins and thus return it to general circulation.
An arteriovenous fistula is an abnormal connection or passageway between an artery and a vein. It may be congenital, surgically created for hemodialysis treatments, or acquired due to pathologic process, such as trauma or erosion of an arterial aneurysm.
Lymphatic malformations are benign slow-flow type of vascular malformation of the lymphatic system characterized by lymphatic vessels which do not connect to the normal lymphatic circulation. The term lymphangioma is outdated and newer research reference the term lymphatic malformation.
An embolus, is described as a free-floating mass, located inside blood vessels that can travel from one site in the blood stream to another. An embolus can be made up of solid, liquid, or gas. Once these masses get "stuck" in a different blood vessel, it is then known as an "embolism." An embolism can cause ischemia—damage to an organ from lack of oxygen. A paradoxical embolism is a specific type of embolism in which the embolus travels from the right side of the heart to the left side of the heart and lodges itself in a blood vessel known as an artery. Thus, it is termed "paradoxical" because the embolus lands in an artery, rather than a vein.
The superior petrosal sinus is one of the dural venous sinuses located beneath the brain. It receives blood from the cavernous sinus and passes backward and laterally to drain into the transverse sinus. The sinus receives superior petrosal veins, some cerebellar veins, some inferior cerebral veins, and veins from the tympanic cavity. They may be affected by arteriovenous malformation or arteriovenous fistula, usually treated with surgery.
A dural arteriovenous fistula (DAVF) or malformation is an abnormal direct connection (fistula) between a meningeal artery and a meningeal vein or dural venous sinus.
Vascular disease is a class of diseases of the vessels of the circulatory system in the body, including blood vessels – the arteries and veins, and the lymphatic vessels. Vascular disease is a subgroup of cardiovascular disease. Disorders in this vast network of blood and lymph vessels can cause a range of health problems that can sometimes become severe, and fatal. Coronary heart disease for example, is the leading cause of death for men and women in the United States.
Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus, venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinct from, the less common Parkes Weber syndrome.
Bonnet–Dechaume–Blanc syndrome, also known as Wyburn-Mason syndrome, is a rare congenital disorder characterized by arteriovenous malformations of the brain, retina or facial nevi. The syndrome has a number of possible symptoms and can, more rarely, affect the skin, bones, kidneys, muscles, and gastrointestinal tract. When the syndrome affects the brain, people can experience severe headaches, seizures, acute stroke, meningism, and progressive neurological deficits due to acute or chronic ischaemia caused by arteriovenous shunting.
A vascular anomaly is any of a range of lesions from a simple birthmark to a large tumor that may be disfiguring. They are caused by a disorder of the vascular system. A vascular anomaly is a localized defect in blood vessels or lymph vessels. These defects are characterized by an increased number of vessels, and vessels that are both enlarged and heavily curved. Some vascular anomalies are congenital, others appear within weeks to years after birth, and others are acquired by trauma or during pregnancy. Inherited vascular anomalies are also described and often present with a number of lesions that increase with age. Vascular anomalies can also be a part of a syndrome.
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown. It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907.
Vein of Galen aneurysmal malformations(VGAMs) and Vein of Galen aneurysmal dilations (VGADs) are the most frequent arteriovenous malformations in infants and fetuses. A VGAM consists of a tangled mass of dilated vessels supplied by an enlarged artery. The malformation increases greatly in size with age, although the mechanism of the increase is unknown. Dilation of the great cerebral vein of Galen is a secondary result of the force of arterial blood either directly from an artery via an arteriovenous fistula or by way of a tributary vein that receives the blood directly from an artery. There is usually a venous anomaly downstream from the draining vein that, together with the high blood flow into the great cerebral vein of Galen causes its dilation. The right sided cardiac chambers and pulmonary arteries also develop mild to severe dilation.
Lymphohemangioma is a disease characterized by swelling of the lymph nodes and blood vessels. It is variously described as a "mixture of clear fluid and blood-filled cysts", a mass of abnormal swollen veins and lymph nodes, or a tumorous growth of lymph and blood vessels. Oftentimes, it is described as a misnomer for combined lymphatic and capillary malformation. The lymphangiomas are known to be malformations of the lymph tissue, 75% of which is found near the head and neck. However, it can affect any region of the body. This disease is most commonly observed in children and male patients. In fact, Lymphangiomas account for 4% of all vascular tumors and 25% of the benign vascular tumors in children. Additionally, 50% of Lymphangiomas are noted at birth and become more evident by age 5.
CLOVES syndrome is a rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs.
Diffuse capillary malformation with overgrowth (DCMO) is a subset of capillary malformations (CM) associated with hypertrophy, i.e. increased size of body structures. CM can be considered an umbrella term for various vascular anomalies caused by increased diameter or number of capillary blood vessels. It is commonly referred to as "port-wine stain", and is thought to affect approximately 0.5% of the population. Typically capillaries in the papillary dermis are involved, and this gives rise to pink or violaceous colored lesions. The majority of DCMO lesions are diffuse, reticulated pale-colored stains.