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Familial Abdominal Aortic Aneurysm


Presentation

  • OBJECTIVE: A familial predisposition to abdominal aortic aneurysms (AAAs) is present in approximately one-fifth of patients. Nevertheless, the clinical implications of a positive family history are not known.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The TGFBR1 (p.Ile72Leu) variant was present in one sporadic and one familial case, and did not segregate.[link.springer.com]
  • The work presented in this thesis supports the evidence of a genetic origin in AAA formation and warrants up to date knowledge for all clinicians involved in AAA care.[repub.eur.nl]
  • We also studied the occurrence of collagen types I and III in the aneurysm walls, and the occurrence of vimentin and desmin in the smooth muscle cells of the aneurysm walls, but all these components were present in the aneurysm walls of both the patients[diva-portal.org]
Hunting
  • Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Assimes TL, McPherson R, Consortium CA, Global BC, Consortium D, Consortium V, Folkersen L, Franco-Cereceda A, Palmen J, Smith AJ, Sylvius N, Wild JB, Refstrup M, Edkins S, Gwilliam R, Hunt[link.springer.com]
  • ZJ, Hertzer NR, Bakal CW, Creager MA, Halperin JL, Hiratzka LF, Murphy WR, Olin JW, Puschett JB, Rosenfield KA, Sacks D, Stanley JC, Taylor LM, White CJ, White J, White RA, Antman EM, Smith SC, Adams CD, Anderson JL, Faxon DP, Fuster V, Gibbons RJ, Hunt[en.wikipedia.org]
  • Holley KE, Hunt JC, Brown AL, Kinkaid OW, Sheps SG. Renal artery stenosis. A clinical-pathologic study in normotensive and hypertensive patients. Am J Med . 1964;37:14-22. Medline 55 .[revespcardiol.org]
Abdominal Pain
  • Abstract An 82-year-old man was brought to our hospital because of vomiting and abdominal pain. Physical examination revealed a pulsating tumor on the left side of the abdomen.[jstage.jst.go.jp]
  • Back To Top Key History Abdominal pain with shock Abdominal pain with syncope Pain in the: Abdomen Back Flank Pain is acute or sudden in onset Pain may be severe and constant Pain may radiate to chest, thigh, inguinal area or scrotum Shock (may be absent[thesullivangroup.com]
  • Coronary artery disease by history, arterial hypertension (high blood pressure), elevated cholesterol, family history of aneurysm, family history of coronary insufficiency, strokes, diabetes, legs vascular insufficiency, arteriosclerosis, abdominal pains[medhealthservices.com]
  • This patient presented at the emergency room with severe acute abdominal pain and was diagnosed with a Stanford type-B aortic dissection associated with a pre-existing large aorto-iliac aneurysm and marked aorta-iliacal aneurysm with tortuosity with a[link.springer.com]
  • pain, shock, and a pulsatile abdominal mass.[en.wikipedia.org]
Nausea
  • If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. About 20% of AAAs eventually rupture and are often fatal.[checkorphan.org]
  • You may have nausea and vomiting. You may have a rapid heart rate and clammy skin. You may pass out, and you may go into shock. A ruptured aorta is a medical emergency that is often fatal. Tratament A small aortic aneurysm may not need treatment.[capitalcardiology.com]
  • If an aneurysm expands quickly or ruptures, symptoms may develop suddenly and include: Pain Clammy skin Dizziness Nausea and vomiting Rapid heart rate Shock Low blood pressure Your doctor can use an angiogram, CT scan or ultrasound test to diagnose an[heart.org]
Translucent Skin
  • Common symptoms include thin, translucent skin, bruising easily, characteristic facial appearance (thin lips, small chin, thin nose, large eyes), and fragile arteries, muscles and internal organs.[johnritterresearchprogram.org]
  • The Ehlers–Danlos type IV syndrome is associated with vascular fragility, thin and translucent skin, typical facial features, rupture uterus or intestines, and variably hypermobility or contractures.[link.springer.com]
Cutis Laxa
  • Nat Genet 40:217–224 PubMed CrossRef Google Scholar Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z (2006) Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.[link.springer.com]
Withdrawn
  • […] epidural bolus;Sufentanil epidural bolus;Morphine;Levobupivacaine plus sufentanil epidural infusion;Levobupivacaine wound infusion 17 ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNique Withdrawn[malacards.org]
Hypertelorism
  • […] features in these rare autosomal dominantly inherited syndromic forms of familial thoracic aneurysm includes pectus- and/or spinal deformities, joint laxity, and skin translucency and specifically for AOS, osteoarthritis and for the Loeys–Dietz syndrome, hypertelorism[link.springer.com]

Workup

  • Aneurysm was noted during workup for back pain, and CT was ordered after AAA was identified on radiography. No evidence of rupture is seen. Signs and symptoms AAAs are usually asymptomatic until they expand or rupture.[emedicine.medscape.com]

Treatment

  • Until recently, the treatment of aortic disease was primarily surgical, carrying a high mortality rate among the high risk elderly population. In Aortic Aneurysms: Pathogenesis and Treatment, Gilbert R.[books.google.com]
  • PubMedHealth treatment related to Aortic Aneurysm, Familial Abdominal, 1: 64 Whether or not treatment is a good idea, and what type of treatment would be suitable, will mainly depend on the size of the aneurysm, its general development and the overall[malacards.org]
  • Future studies should determine the role of family history in AAA treatment, suitability for endovascular or open repair, and on adaptation of post-operative surveillance.[ncbi.nlm.nih.gov]
  • Part III is dedicated to determine the clinical outcome after operative treatment of patients with familial AAA. And Part IV addresses the clinical management of patients with familial AAA.[repub.eur.nl]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Symptoms - Abdominal aortic aneurysm Causes - Abdominal aortic aneurysm Prevention - Abdominal aortic aneurysm Diagnosis - Abdominal aortic aneurysm Prognosis - Abdominal aortic aneurysm Treatment - Abdominal aortic aneurysm Resources - Abdominal aortic[checkorphan.org]
  • Prognosis In the natural history of AAA, their growth determines their progression toward rupture.[revespcardiol.org]
  • Prognosis For patients who suffer rupture of an AAA before hospital arrival, the prognosis is guarded. More than 50% do not survive to reach the emergency department; for those who do, the survival rate drops by about 1% per minute.[emedicine.medscape.com]
  • […] emission tomography (PET)ポジトロン放射計断層撮影[法] potential(1)潜在性 【形】 (2)電位 precordial pain前胸[部]痛 preload前負荷 premature beat期外収縮 premature ventricular contraction心室期外収縮 pressure overload圧負荷 prevalence有病率、頻度 primary一次、原発[性] 【形】 proarrhythmia催不整脈 procedure 手技、手順、処置方法 prognosis[tokyo-med.ac.jp]
  • Circulating biomarkers could play a role in the diagnosis of AAA reflecting also the AAA activity in asymptomatic phases and may have a role in predicting subsequent progression and thus the prognosis of AAA.[intechopen.com]

Etiology

  • Etiology. Diagnosis. Prognosis. Treatment.[revespcardiol.org]
  • AAA is caused by a degenerative process of the aortic wall, however the exact etiology remains unknown.[thesullivangroup.com]
  • (See Etiology .) AAAs generally affect elderly white men. Smoking appears to be the risk factor most strongly associated with AAA.[emedicine.medscape.com]

Epidemiology

  • Epidemiology United States statistics In autopsy studies, the frequency rate of AAA ranges from 0.5% to 3.2%.[emedicine.medscape.com]
  • Author information Affiliations Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany Kari Hemminki Department of Biosciences at Novum, Karolinska Institute, Huddinge, Sweden Kari Hemminki Center for Family[nature.com]
  • Future studies should also monitor the epidemiology of AAA as age-based screening may have less of a positive impact if the prevalence of AAA continues to decline in the general population.[cmaj.ca]
  • […] mortality for an already ruptured AAA has slowly decreased over several decades but remains higher than 40%. [39] However, if the AAA is surgically repaired before rupture, the post-operative mortality rate is substantially lower: approximately 1-6%. [81] Epidemiology[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Back To Top Pathophysiology The signs and symptoms of an AAA reflect the anatomy of the normal aorta. A review of these anatomical factors can sometimes assist in making the diagnosis.[thesullivangroup.com]
  • AAA usually results from degeneration in the media of the arterial wall, leading to a slow and continuous dilatation of the lumen of the vessel (see Pathophysiology ).[emedicine.medscape.com]
  • Adventitial inflammatory infiltrate is present. [18] However, the degradation of the tunica media by means of a proteolytic process seems to be the basic pathophysiologic mechanism of AAA development.[en.wikipedia.org]
  • Markers of the extension of atherosclerosis, such as the presence of atheromatous plaques in the thoracic aorta, have been associated with a higher prevalence of AAA (14% vs 1.4%). 19 Pathophysiology The factors that trigger a response in the form of[revespcardiol.org]

Prevention

  • But it is not yet clear whether medication can slow the growth of the aneurysm and actually lower the risk of rupture.If the risk of rupture is high, surgery is the only preventive measure.[malacards.org]
  • Preventing brain aneurysms The best way to prevent getting an aneurysm, or reduce the risk of an aneurysm growing bigger and possibly rupturing, is to avoid activities that could damage your blood vessels.[nhs.uk]
  • Generally you should try to live as healthy a lifestyle as possible to prevent such things as aneurysms, heart attacks and strokes.[canadianvascular.ca]
  • Canadian Task Force on Preventive Health Care procedure manual . Calgary : Canadian Task Force on Preventive Health Care ; 2014 . ( accessed 2017 Mar. 12 ).[cmaj.ca]
  • Prevention To prevent an aortic aneurysm or keep an aortic aneurysm from worsening, do the following: Don't use tobacco products. Quit smoking or chewing tobacco and avoid secondhand smoke. Eat a healthy diet.[mayoclinic.org]

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