AAA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | AAAaortic aneurysmfamilial abdominal 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | GeneCards: | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Aortic aneurysm, familial abdominal 1 is a protein that in humans is encoded by the AAA1 gene. [2]
An aneurysm is an outward bulging, likened to a bubble or balloon, caused by a localized, abnormal, weak spot on a blood vessel wall. Aneurysms may be a result of a hereditary condition or an acquired disease. Aneurysms can also be a nidus for clot formation (thrombosis) and embolization. As an aneurysm increases in size, the risk of rupture, which leads to uncontrolled bleeding, increases. Although they may occur in any blood vessel, particularly lethal examples include aneurysms of the Circle of Willis in the brain, aortic aneurysms affecting the thoracic aorta, and abdominal aortic aneurysms. Aneurysms can arise in the heart itself following a heart attack, including both ventricular and atrial septal aneurysms. There are congenital atrial septal aneurysms, a rare heart defect.
Abdominal pain, also known as a stomach ache, is a symptom associated with both cancer and serious medical issues.
An aortic aneurysm is an enlargement (dilatation) of the aorta to greater than 1.5 times normal size. They usually cause no symptoms except when ruptured. Occasionally, there may be abdominal, back, or leg pain. The prevalence of abdominal aortic aneurysm ("AAA") has been reported to range from 2 to 12% and is found in about 8% of men more than 65 years of age. The mortality rate attributable to AAA is about 15,000 per year in the United States and 6,000 to 8,000 per year in the United Kingdom and Ireland. Between 2001 and 2006, there were approximately 230,000 AAA surgical repairs performed on Medicare patients in the United States.
Abdominal aortic aneurysm (AAA) is a localized enlargement of the abdominal aorta such that the diameter is greater than 3 cm or more than 50% larger than normal. An AAA usually causes no symptoms, except during rupture. Occasionally, abdominal, back, or leg pain may occur. Large aneurysms can sometimes be felt by pushing on the abdomen. Rupture may result in pain in the abdomen or back, low blood pressure, or loss of consciousness, and often results in death.
A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the thorax.
Familial thoracic aortic aneurysm is an autosomal dominant disorder of large arteries.
In human anatomy, the abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of the descending aorta.
An abdominal mass is any localized enlargement or swelling in the human abdomen. Depending on its location, the abdominal mass may be caused by an enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), protruding kidney, a pancreatic mass, a retroperitoneal mass, an abdominal aortic aneurysm, or various tumours, such as those caused by abdominal carcinomatosis and omental metastasis. The treatments depend on the cause, and may range from watchful waiting to radical surgery.
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment.
Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each called an alpha 1 chain of type III collagen. Formally, the monomers are called collagen type III, alpha-1 chain and in humans are encoded by the COL3A1 gene. Type III collagen is one of the fibrillar collagens whose proteins have a long, inflexible, triple-helical domain.
Endovascular aneurysm repair (EVAR) is a type of minimally-invasive endovascular surgery used to treat pathology of the aorta, most commonly an abdominal aortic aneurysm (AAA). When used to treat thoracic aortic disease, the procedure is then specifically termed TEVAR for "thoracic endovascular aortic/aneurysm repair." EVAR involves the placement of an expandable stent graft within the aorta to treat aortic disease without operating directly on the aorta. In 2003, EVAR surpassed open aortic surgery as the most common technique for repair of AAA, and in 2010, EVAR accounted for 78% of all intact AAA repair in the United States.
Myosin-11 is a protein that in humans is encoded by the MYH11 gene.
Olfactory receptor 2L13 is a protein that in humans is encoded by the OR2L13 gene.
Aortic rupture is the rupture or breakage of the aorta, the largest artery in the body. Aortic rupture is a rare, extremely dangerous condition. The most common cause is an abdominal aortic aneurysm that has ruptured spontaneously. Aortic rupture is distinct from aortic dissection, which is a tear through the inner wall of the aorta that can block the flow of blood through the aorta to the heart or abdominal organs.
Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once inherited will result in dissection of the aorta, and dissecting aneurysm of the aorta, or rarely aortic or arterial dilation at a young age. Dissection refers to the actual tearing open of the aorta. However, the exact gene(s) involved has not yet been identified. It can occur in the absence of clinical features of Marfan syndrome and of systemic hypertension. Over time this weakness, along with systolic pressure, results in a tear in the aortic intima layer thus allowing blood to enter between the layers of tissue and cause further tearing. Eventually complete rupture of the aorta occurs and the pleural cavity fills with blood. Warning signs include chest pain, ischemia, and hemorrhaging in the chest cavity. This condition, unless found and treated early, usually results in death. Immediate surgery is the best treatment in most cases. FAD is not to be confused with PAU and IMH, both of which present in ways similar to that of familial aortic dissection.
Dong H. Kim, M.D. is a Professor in the Vivian L. Smith Department of Neurosurgery at The McGovern Medical School at The University of Texas Health Science Center at Houston. Dr. Kim is also the former Chair of the Department, which he led froom 2007 to 2021.
Open aortic surgery (OAS), also known as open aortic repair (OAR), describes a technique whereby an abdominal, thoracic or retroperitoneal surgical incision is used to visualize and control the aorta for purposes of treatment, usually by the replacement of the affected segment with a prosthetic graft. OAS is used to treat aneurysms of the abdominal and thoracic aorta, aortic dissection, acute aortic syndrome, and aortic ruptures. Aortobifemoral bypass is also used to treat atherosclerotic disease of the abdominal aorta below the level of the renal arteries. In 2003, OAS was surpassed by endovascular aneurysm repair (EVAR) as the most common technique for repairing abdominal aortic aneurysms in the United States.
MFAP4 is an extracellular matrix protein encoded by the MFAP4 gene. It is part of the MFAP family of proteoglycans, which are involved in cell adhesion, intercellular interactions and the assembly and/or maintenance of elastic fibres.
Familial thoracic aortic aneurysm and aortic dissection is a very rare vascular genetic disorder, it's characterized by recurrent thoracic aortic aneurysms and aortic dissections within a family, these mentioned complications affect one or more aortic segments without any other disease being associated with them. People with this disorder have a higher chance of having a potentially fatal aortic rupture. This disorder is the cause of 20% of thoracic aortic aneurysms