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Familial Thoracic Aortic Aneurysm 1



  • 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]
  • 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]
  • Acute aortic dissection [ 11 ] This may present with: Severe, sharp pain in the chest, neck or back. The pain may migrate as the dissection progresses.[patient.info]
  • (Wednesday, May 29th 3:30-5:30 pm) ClinGen Posters and Presentations - ACMG 2019 Gene Disease Validity General Training Presentation Updated February 2018.[clinicalgenome.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]
Resistant Hypertension
  • Eggebrecht H, Schmermund A, von Birgelen C, Naber CK, Bartel T, et al. (2005) Resistant hypertension in patients with chronic aortic dissection. J Hum Hypertens 19: 227-231.[omicsonline.org]
Intermittent Claudication
  • claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease[en.wikipedia.org]
Left Ventricular Dysfunction
  • ventricular dysfunction 0005162 Paroxysmal dyspnea 0012763 5%-29% of people have these symptoms Abdominal aortic aneurysm 0005112 Abnormality of the sternum Sternal anomalies 0000766 Aortic root aneurysm Bulge in wall of root of large artery that carries[rarediseases.info.nih.gov]
Skin Discoloration
  • Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia ), an abnormal curvature of the spine ( scoliosis ), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of[heart.ucla.edu]
  • In addition to cardiac defects, TAAD can manifest with other features including: congenital heart abnormalities, inguinal hernia, scoliosis, a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin[genedx.com]


  • The Level C recommendation is: “ The decision to pursue further workup for acute non-traumatic aortic dissection should be at the discretion of the treating physician. ” In other words, there are no clinical decision rules.[thesullivangroup.com]
Pericardial Effusion
  • The differential diagnosis includes the following: Acute myocardial infarction or Acute Coronary syndrome Pneumothorax Pulmonary embolism Acute pericarditis Pericardial effusion or tamponade New aortic regurgitation Penetrating Aortic ulcer Aortic intramural[clinicaladvisor.com]


  • Our thoracic aortic disease treatment experience Cardiothoracic and vascular surgeons at the UPMC Heart and Vascular Institute offer treatment for descending TAAs and TAAAs.[upmc.com]
  • Treatment What are the treatments for FTAAD? There are a number of treatments for FTAAD. Blood pressure medications can reduce stress on the aorta, and beta-blockers are often prescribed by doctors treating the condition.[myresults.org]
  • The possible role of medical treatment in other TAAD diseases is not well studied but pragmatically, treatment as for MFS is adopted.[annalscts.com]
  • Type III dissection originates in the descending thoracic aorta and propagates most often distally with nonsurgical treatment usually recommended [ 3 ].[omicsonline.org]
  • You can help by adding to it. ( December 2017 ) Treatment [ edit ] This section is empty.[en.wikipedia.org]


  • There are significant perioperative mortality and complication rates (see 'Prognosis', below).[patient.info]
  • Prognosis and Patient Counseling. At discharge, patients are restricted in terms of their physical activity. They should be instructed to avoid heavy lifting. Blood pressure should be monitored.[clinicaladvisor.com]
  • Although non-dissecting TAA patients who have undergone appropriate elective surgical treatment have a near-normal prognosis [4] – [6], and despite progress in predicting the risk of TAD in patients with established TAA based on aortic size criteria,[journals.plos.org]
  • Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9.[clinicalgenome.org]


  • Aneurysms in aortic arch are contiguous with those of ascending or descending aorta and have the same etiology (cystic medial necrosis or atherosclerosis).[wikiecho.org]
  • Both twins had deep vein thrombosis of unclear etiology, possibly attributed entirely to immobility after surgery.[pediatrics.aappublications.org]
  • Etiology and classification The etiology of TAAD is complex and heterogeneous.[annalscts.com]
  • Goldstein LJ, Davies RR, Rizzo JA, Davila JJ, Cooperberg MR, et al. (2001) Stroke in surgery of the thoracic aorta: incidence, impact, etiology, and prevention. The Journal of thoracic and cardiovascular surgery 122: 935–945.[journals.plos.org]
  • The etiology of thoracic aortic aneurysm is dependent on the location of the aneurysm. Ascending thoracic aorta aneurysm can be caused by cystic medial degeneration, genetics, familial, atherosclerosis, and infection such as syphilis.[clinicaladvisor.com]


  • Epidemiology [ 2 ] The true incidence and mortality rate of TAAs is not known.[patient.info]
  • LeMaire SA, Russell L (2011) Epidemiology of thoracic aortic dissection. Nature reviews. Cardiology 8: 103–113. View Article Google Scholar 3. Elefteriades JA (2010) Indications for aortic replacement.[journals.plos.org]
  • Moreover, recent USA data from 2006–2007 of isolated descending thoracic aorta aneurysms found 23% of ideal candidate (uncomplicated, elective descending aortic aneurysms) underwent to TEVAR, the remaining 77% underwent open surgical repair. [18] Epidemiology[en.wikipedia.org]
Sex distribution
Age distribution


  • 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]
  • Definitions Pathophysiology Key History Key Physical Exam Risk Factors for TAD / AoD Classification Systems Differential Diagnosis Clinical Risk and Safety Pearls Thoracic Aortic Dissection Evaluation & Management Guidelines Definitions Acute Aortic Syndromes[thesullivangroup.com]
  • […] disease Hypertension Loeys-Dietz Syndrome Hypercholesterolemia Hyperhomocysteinemia Elevated C-reactive protein Tobacco use Peripheral vascular disease Marfan syndrome Ehlers-Danlos type IV Bicuspid Aortic Valve Syphilis IgG4-related disease Pregnancy Pathophysiology[en.wikipedia.org]


  • If the aortic diameter increases rapidly or reaches a critical size (between 4.5 – 5.0 cm), elective surgery is recommended to prevent rupture.[tadcoalition.org]
  • Once a thoracic aortic aneurysm is detected, death can effectively be prevented by skilful clinical decision-making and timely surgical intervention.[openheart.bmj.com]
  • […] properties characterize murine thoracic aortic aneurysm mechanics. ( 30251206 ) Bersi MR...Avril S 2018 33 Current challenges in open versus endovascular repair of ruptured thoracic aortic aneurysm. ( 30253895 ) Harky A...Bashir M 2018 34 Rapamycin prevents[malacards.org]
  • Milewicz DM (2011) Stopping a killer: improving the diagnosis, treatment, and prevention of acute ascending aortic dissections. Circulation 124: 1902–1904. View Article Google Scholar 20.[journals.plos.org]

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