Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable.
Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart. In most cases, this is associated with a sudden onset of severe chest or back pain, often described as "tearing" in character. Also, vomiting, sweating, and lightheadedness may occur. Other symptoms may result from decreased blood supply to other organs, such as stroke, lower extremity ischemia, or mesenteric ischemia. Aortic dissection can quickly lead to death from insufficient blood flow to the heart or complete rupture of the aorta.
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.
Vascular surgery is a surgical subspecialty in which vascular diseases involving the arteries, veins, or lymphatic vessels, are managed by medical therapy, minimally-invasive catheter procedures and surgical reconstruction. The specialty evolved from general and cardiovascular surgery where it refined the management of just the vessels, no longer treating the heart or other organs. Modern vascular surgery includes open surgery techniques, endovascular techniques and medical management of vascular diseases - unlike the parent specialities. The vascular surgeon is trained in the diagnosis and management of diseases affecting all parts of the vascular system excluding the coronaries and intracranial vasculature. Vascular surgeons also are called to assist other physicians to carry out surgery near vessels, or to salvage vascular injuries that include hemorrhage control, dissection, occlusion or simply for safe exposure of vascular structures.
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.
Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is a rare abnormality of the aorta, the largest artery in the body. The aorta normally has three small pouches that sit directly above the aortic valve, and an aneurysm of one of these sinuses is a thin-walled swelling. Aneurysms may affect the right (65–85%), non-coronary (10–30%), or rarely the left coronary sinus. These aneurysms may not cause any symptoms but if large can cause shortness of breath, palpitations or blackouts. Aortic sinus aneurysms can burst or rupture into adjacent cardiac chambers, which can lead to heart failure if untreated.
A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the thorax.
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.
The thoracic aorta is a part of the aorta located in the thorax. It is a continuation of the aortic arch. It is located within the posterior mediastinal cavity, but frequently bulges into the left pleural cavity. The descending thoracic aorta begins at the lower border of the fourth thoracic vertebra and ends in front of the lower border of the twelfth thoracic vertebra, at the aortic hiatus in the diaphragm where it becomes the abdominal aorta.
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.
Syphilitic aortitis is inflammation of the aorta associated with the tertiary stage of syphilis infection. SA begins as inflammation of the outermost layer of the blood vessel, including the blood vessels that supply the aorta itself with blood, the vasa vasorum. As SA worsens, the vasa vasorum undergo hyperplastic thickening of their walls thereby restricting blood flow and causing ischemia of the outer two-thirds of the aortic wall. Starved for oxygen and nutrients, elastic fibers become patchy and smooth muscle cells die. If the disease progresses, syphilitic aortitis leads to an aortic aneurysm. Overall, tertiary syphilis is a rare cause of aortic aneurysms. Syphilitic aortitis has become rare in the developed world with the advent of penicillin treatments after World War II.
The Bentall procedure is a type of cardiac surgery involving composite graft replacement of the aortic valve, aortic root, and ascending aorta, with re-implantation of the coronary arteries into the graft. This operation is used to treat combined disease of the aortic valve and ascending aorta, including lesions associated with Marfan syndrome. The Bentall procedure was first described in 1968 by Hugh Bentall and Antony De Bono. It is considered a standard for individuals who require aortic root replacement, and the vast majority of individuals who undergo the surgery receive mechanical valves.
Anterior spinal artery syndrome is syndrome caused by ischemia of the anterior spinal artery, resulting in loss of function of the anterior two-thirds of the spinal cord. The region affected includes the descending corticospinal tract, ascending spinothalamic tract, and autonomic fibers. It is characterized by a corresponding loss of motor function, loss of pain and temperature sensation, and hypotension.
Traumatic aortic rupture, also called traumatic aortic disruption or transection, is a condition in which the aorta, the largest artery in the body, is torn or ruptured as a result of trauma to the body. The condition is frequently fatal due to the profuse bleeding that results from the rupture. Since the aorta branches directly from the heart to supply blood to the rest of the body, the pressure within it is very great, and blood may be pumped out of a tear in the blood vessel very rapidly. This can quickly result in shock and death. Thus traumatic aortic rupture is a common killer in automotive accidents and other traumas, with up to 18% of deaths that occur in automobile collisions being related to the injury. In fact, aortic disruption due to blunt chest trauma is the second leading cause of injury death behind traumatic brain injury.
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.
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.
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.
Inflammatory aortic aneurysm (IAA), also known as Inflammatory abdominal aortic aneurysm (IAAA), is a type of abdominal aortic aneurysm (AAA) where the walls of the aneurysm become thick and inflamed. Similar to AAA, IAA occurs in the abdominal region. IAA is closely associated and believed to be a response to and extensive peri-aneurysmal fibrosis, which is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process IAA accounts for 5-10% of aortic aneurysms. IAA occurs mainly in a population that is on average younger by 10 years than most AAA patients. Some common symptoms of IAA may include back pain, abdominal tenderness, fevers, weight loss or elevated Erythrocyte sedimentation rate (ESR) levels. Corticosteroids and other immunosuppressive drugs have been found to decrease symptoms and the degree of peri-aortic inflammation and fibrosis
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
