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Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection

Ruptured Thoracic Aortic Aneurysm


  • , is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture.[ebi.ac.uk]
  • CD-68, a macrophage marker that is normally absent in aorta tissue, is weakly present in the adventitia of thoracic aorta (arrow, K) and strongly present in the media and adventitia of abdominal aorta (arrows, L).[pediatrics.aappublications.org]
  • Patients have increased risk of presenting life threatening aortic rupture. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Four of the 6 (67%) patients presented with sudden hematemesis.[interventions.onlinejacc.org]
Congestive Heart Failure
  • The patient may have symptoms suggestive of congestive heart failure, stroke, shock or loss of distal pulse.[omicsonline.org]
  • Presentation Aortic dissection may present with chest pain, aortic regurgitation, myocardial ischaemia, congestive heart failure, pleural effusions, syncope, neurological symptoms (eg, acute paraplegia, upper or lower limb ischaemic neuropathy), mesenteric[patient.info]
  • D-dimer levels may also be elevated in a large variety of other conditions, including venous thromboembolism (VTE), atrial fibrillation, congestive heart failure, disseminated intravascular coagulation and routine post-operative recovery [ 24 ].[wjes.biomedcentral.com]
  • Less common symptoms that may be seen in the setting of AD include congestive heart failure (7%), fainting (9%), stroke (6%), ischemic peripheral neuropathy, paraplegia, and cardiac arrest. [5] If the individual fainted, about half the time it is due[en.wikipedia.org]
  • The community is written in five languages: English, Spanish, German, French and Italian. (EURORDIS and NORD has started Rare Connect).[aortadissektion.com]
  • Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis. 2009;4:20. Allen VM, Horne SG, Penney LS, et al. Successful outcome in pregnancy with arterial tortuosity syndrome. Obstet Gynecol. 2009;114:494-498.[rarediseases.org]
Multiple Congenital Anomalies
  • congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS 512.8 Other spontaneous pneumothorax Pneumothorax 754.81 Pectus excavatum Congenital funnel chest 737.43 Scoliosis 701.3 Striae atrophicae, Atrophic spots of[genedx.com]
Heart Failure
  • Access new and updated guidelines covering Diseases of the Aorta, Peripheral Artery Diseases, Diabetes and the Cardiovascular System, Heart Failure, and Valvular Heart Disease.[books.google.com]
  • Also rare, ADPKD can be associated with heart failure due to idopathic dilated cardiomyopathy (IDCM). Mutations in PKD1 and PKD2 genes cause most cases of ADPKD and are thought to cause loss of vascular integrity and heart failure.[heartvalvesociety.org]
  • Clinically, left atrial compression can develop with symptoms of heart failure or cardiac tamponade, and although it is an infrequent cause of haemodynamic deterioration, it must be considered in the differential diagnosis.[revespcardiol.org]
  • Symptoms of an ascending thoracic aneurysm may include: Pain in the chest, neck and/or back Swelling of the head, neck and arms Heart failure caused by blood backing up into the heart Symptoms of an aortic arch aneurysm or a descending thoracic aneurysm[ucdmc.ucdavis.edu]
  • The patient may have symptoms suggestive of congestive heart failure, stroke, shock or loss of distal pulse.[omicsonline.org]
Heart Disease
  • Access new and updated guidelines covering Diseases of the Aorta, Peripheral Artery Diseases, Diabetes and the Cardiovascular System, Heart Failure, and Valvular Heart Disease.[books.google.com]
  • Cedars-Sinai is pioneering the use of minimally invasive techniques to treat heart disease, as well as noninvasive approaches to managing heart conditions.[cedars-sinai.edu]
  • You are eight times more likely to develop an aneurysm if you smoke Overweight or obesity A family history of aortic aneurysm, heart disease or other diseases of the arteries Certain diseases that can weaken the wall of the aorta, such as: Marfan syndrome[medicine.umich.edu]
  • Outlook The outlook for people with an ascending aortic aneurysm depends on several factors, including the presence of co-occurring conditions, such as heart disease, high blood pressure, and high cholesterol.[medicalnewstoday.com]
  • ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J 2010;31:2915-57. Williams JA, Loeys BL, Nwakanma LU, et al.[annalscts.com]
  • Kipshidze Central University Hospital, Tbilisi, Georgia Jawed Fareed, PhD, FACB Professor of Pathology and Pharmacology, Director of Hemostasis and Thrombosis Research Laboratories and Department of Pathology, Loyola University, Stritch School of Medicine[books.google.com]
  • Both twins had deep vein thrombosis of unclear etiology, possibly attributed entirely to immobility after surgery.[pediatrics.aappublications.org]
  • Kevin Harris, cardiologist at ... 07/31/2007 Degree of thrombosis seen as mortality risk factor in type B acute ...[aorticdissection.com]
  • Patients should receive deep vein thrombosis prophylaxis with pneumatic compression devices on admission. Anticoagulation in acute aortic dissection is an absolute contraindication.[clinicaladvisor.com]
Ectopia Lentis
  • ., ectopia lentis, causing dislocation of the lens of the eye) and musculoskeletal system (e.g., joint laxity and dural ectasia).[nap.edu]
Back Pain
  • Still, you might have: Back pain A deep pain on the side of your abdomen A throbbing sensation near your navel If the aneurysm ruptures, you might feel sick to your stomach, or suddenly develop an intense pain in your back or abdomen.[webmd.com]
  • Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin[orpha.net]
  • Symptoms Thoracic aortic aneurysms may cause issues such as shortness of breath, back pain, and chest pain. Ascending aortic aneurysms do not always cause symptoms, especially in the early stages and when small in size.[medicalnewstoday.com]
  • One of the brothers presented with acute-onset lower back pain that was identified as dissection of an abdominal aortic aneurysm. Imaging of the chest at this time showed severe fusiform TAA.[pediatrics.aappublications.org]
  • This case emphasizes the importance of identifying physical stigmata of smooth muscle dysfunction, such as mydriasis, as potential markers for associated aortopathy and vascular diseases. aortic aneurysm ACTA2 mydriasis aortopathy genetics natural history[pediatrics.aappublications.org]
Kidney Failure
  • Although surgical and endovascular repair of aortic disease is often successful enough to restore the individual to a good functional status, aortic surgery can be complicated by long-term sequelae such as spinal cord injury or kidney failure that could[nap.edu]
  • .: coronary artery disease ) Aneurysm leakage Cardiac tamponade Shock Past history of myocardial infarction History of kidney failure (either acute or chronic kidney failure) Follow-up [ edit ] Closure of the lumen of a Type B aortic dissection following[en.wikipedia.org]
  • Joseph Hospital in Bellingham, Wash. ... 07/19/2008 Man, then wife face kidney failure Daily Herald - Provo,UT,USA That's when the stitches in his heart tore, rupturing his aorta again. This time, it split and dissected down to his knee.[aorticdissection.com]


  • Making a distinction between TAD/TAA and acute coronary syndrome (ACS) is especially important as the workup of ACS is significantly different.[wjes.biomedcentral.com]
  • Clinical Testing and Workup Microscopic (histologic) examination of affected arteries can reveal disruption of elastic fibers of affected arterial walls.[rarediseases.org]
  • Patients with TA aneurysms should have a long-term medical treatment regimen designed to achieve stringent control of cardiovascular risk factors such as hypertension, dyslipidemia, and tobacco exposure.[nap.edu]


  • Search: name, specialism, conditions, treatments, tests or services Search: name, specialism, conditions, treatments, tests or services Search: name, specialism, conditions, treatments, tests or services Royal Brompton & Harefield NHS Foundation Trust[rbht.nhs.uk]
  • The size of the aneurysm, presence and severity of symptoms, and the risk of surgery help determine the treatment approach. REGULAR MONITORING is standard treatment for smaller aneurysms that do not require surgery.[vascular.org]
  • Research Brings New Treatment Options for Aortic Disease We continue to forge the way in finding new treatment options for aortic diseases.[umcvc.org]
  • Endovascular stenting remains an option for treatment of some type B dissections.[emedicine.medscape.com]
  • The collaborative environment in the Thoracic Aortic Center results in a focused approach to a patient’s condition and treatment.[massgeneral.org]


  • CT scanning may be used to confirm the diagnosis but is less helpful in complications and prognosis.[patient.info]
  • Mayo Clinic Proceedings, 84, 465-481. (11)60566-1 Clouse, W.D., Hallett, J.W., Schaff, H.V., et al. (1998) Improved Prognosis of Thoracic Aortic Aneurysms. A Population-Based Study. JAMA, 280, 1926-1929.[file.scirp.org]
  • If the individual has managed to survive this window period, his prognosis is improved. About 66% of all dissections present in the acute phase.[en.wikipedia.org]
  • Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • Prognosis Depending on the nature and extent of the dissection, death can occur within a few hours of the start of a dissection. Approximately 75% of untreated people die within two weeks of the start of a dissection.[medical-dictionary.thefreedictionary.com]


  • The University of Michigan is home to the International Registry of Aortic Dissection, and several research laboratories that are exploring the molecular and genetic etiologies of aortic diseases.[umcvc.org]
  • In young patients, an underlying etiology (i.e. Marfan’s) should be explored. E. Common Pitfalls and Side-Effects of Management.[clinicaladvisor.com]
  • The etiology may differ depending on the location of the aneurysm.[omicsonline.org]
  • Both twins had deep vein thrombosis of unclear etiology, possibly attributed entirely to immobility after surgery.[pediatrics.aappublications.org]
  • Both interventionalists and general physicians are generally unaware of AEF as an important but rather rare differential diagnosis of hematemesis or other symptoms among other more common etiologies in patients with prior TEVAR.[interventions.onlinejacc.org]


  • Review of epidemiological studies on the occupational risk of tuberculosis in low-incidence areas. Respiration 2005;72:431-46. [ Crossref ] [ PubMed ] Teo DT, Lim TW.[jtd.amegroups.com]
  • Epidemiology The incidence is approximately 3-4 per 100,000 per year. [ 2 ] Aortic dissection is the most common emergency affecting the aorta. The male:female ratio varies - in one study, almost 70% of cases were in males.[patient.info]
  • EPIDEMIOLOGY, NATURAL HISTORY, AND TYPES OF AORTIC ANEURYSMS Abdominal aortic aneurysms (AAAs), involving the infradiaphragmatic abdominal area, are the most common type of aneurysms.[nap.edu]
  • Mészáros I, Mórocz J, Szlávi J, Schmidt J, Tornóci L, et al. (2000) Epidemiology and clinicopathology of aortic dissection. Chest 117: 1271-1278.[omicsonline.org]
  • Epidemiology [ edit ] Establishing the incidence of aortic dissection has been difficult because many cases are only diagnosed after death (which may have been attributed to another cause), and is often initially misdiagnosed.[en.wikipedia.org]
Sex distribution
Age distribution


  • The exact pathophysiologic mechanisms of AEF formation secondary to TEVAR are unknown, so far. We were not able to identify anatomic or procedural similarities among our patients that may have predisposed to AEF.[interventions.onlinejacc.org]
  • Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. Eur J Hum Genet 2004;12:173-80. Loeys BL, Dietz HC, Braverman AC, et al.[annalscts.com]
  • Syphilis only potentially causes aortic dissection in its tertiary stage. [13] Pathophysiology [ edit ] Blood penetrates the intima and enters the media layer.[en.wikipedia.org]
  • Tadros TM, Klein MD, Shapira OM (2009) Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications.[journals.plos.org]


  • Medication Cholesterol-lowering medications (statins) and blood-pressure medications may help slow aneurysm growth and prevent complications.[dukehealth.org]
  • Prevention The chance of developing an ascending aortic aneurysm may depend on preventative lifestyle changes.[medicalnewstoday.com]
  • JRRP at UTHealth are working to prevent premature deaths due to thoracic aortic disease by improving diagnosis, treatment, and public awareness of this disease.[aortadissektion.com]
  • Smidt Heart Institute offers preventive, rehabilitative, diagnostic and both nonsurgical and surgical treatments for heart disease, including angioplasty, bypass surgery and heart transplantation.[cedars-sinai.edu]
  • It also emphasizes the role of imaging in diagnosis and follows up of ascending aortic aneurysm particularly where prevention is key to prevent the high mortality associated with Thoracic aneurysymal rupture.[file.scirp.org]

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