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==Aortic Aneurysm Overview==
An ''aortic aneurysm'' is a dilation of the [[aorta]] in which the aortic diameter is ≥ 3.0 cm<ref name=":1">Kuivaniemi, Helena, et al. "Understanding the pathogenesis of abdominal aortic aneurysms." ''Expert review of cardiovascular therapy'' 13.9 (2015): 975-987.</ref>, usually representing an underlying weakness in the wall of the aorta at that location. While the stretched vessel may occasionally cause discomfort, a greater concern is the risk of ''rupture'' which causes severe pain, massive internal [[hemorrhage]] which are often fatal. Aneurysms often are a source of blood clots ([[embolus|emboli]]) stemming from the most common etiology of atherosclerosis.
==Classification==
There are 2 types of aortic aneurysms: thoracic and abdominal. These can be further classified according to the respective part of the vessel that's been affected:
 
*[[Thoracic aortic aneurysm]], which occur in the thoracic aorta (runs through the chest);
*[[Abdominal aortic aneurysm]], which occur in the abdominal aorta, are the most common.
**Suprarenal - not as common, often more difficult to repair surgically due to the presence of many aortic branches;
**Infrarenal - often more easily surgically repaired and more common;
**Pararenal - aortic aneurysm is infrarenal but affects renal arteries;
**Juxtarenal - infrarenal aortic aneurysm that affects the aorta just below the renal arteries.
 
Thoracoabdominal aortic aneurysm may also be classified according to Crawford classification into 5 subtypes/groups:
 
*Type 1: from the origin of left subclavian artery in descending thoracic aorta to the supra-renal abdominal aorta.
*Type 2: from the left subclavian to the aorto-iliac bifurcation.
*Type 3: from distal thoracic aorta to the aorto-iliac bifurcation
*Type 4: limited to abdominal aorta below the diaphragm
*Type 5: from distal thoracic aorta to celiac and superior mesenteric origins, but not the renal arteries.<ref name=":4">Frederick, John R., and Y. Joseph Woo. "Thoracoabdominal aortic aneurysm." ''Annals of cardiothoracic surgery'' 1.3 (2012): 277.</ref>
 
==Historical Perspective==
Aortic aneurysm was first recorded by Antyllus, a Greek surgeon, in the second century AD. In the Renaissaince era, in 1555, Vesalius first diagnosed an [[abdominal aortic aneurysm]]. The first publication on the pathology with case studies was published by Lancisi in 1728. Finally, in 1817, Astley Cooper was the first surgeon to ligate the abdominal aorta to treat a ruptured iliac aneurysm. In 1888, Rudoff Matas came up with the concept of endoaneurysmorrhaphy. <ref>Livesay, James J., Gregory N. Messner, and William K. Vaughn. "Milestones in treatment of aortic aneurysm: Denton A. Cooley, MD, and the Texas Heart Institute." ''Texas Heart Institute Journal'' 32.2 (2005): 130.</ref>
 
==Pathophysiology==
The aortic aneurysms are a multifactorial disease associated with genetic and environmental risk factors. [[Marfan's syndrome]] and [[Ehlers-Danlos syndrome]] are associated with the disease, but there are also rarer syndromes like the [[Loeys-Dietz syndrome]] that are associated as well. Even in patients that do not have genetic syndromes, it has been observed that genetics can also play a role on aortic aneurysms' development. There has been evidence of genetic heterogeneity as there has already been documented in [[intracranial aneurysms]].<ref name=":0" /> The genetic alterations associated with these genetic syndromes are the following:
 
{| class="wikitable"
|+Genetic diseases associated with aortic aneurysms <ref>Bhandari, R., Kanthi, Y. - The Genetics of Aortic Aneurysms - The American College of Cardiology - available at:https://www.acc.org/latest-in-cardiology/articles/2018/05/02/12/52/the-genetics-of-aortic-aneurysms</ref>
!Disease
!Involved Cellular Pathway
!Mutated Gene(s)
!Affected Protein(s)
|-
|Ehlers-Danlos syndrome type IV
|Extracellular Matrix Proteins
|COL3A1
|Collagen type III
|-
|Marfan's syndrome
|Extracellular Matrix Proteins
|FBN1
|Fibrillin-1
|-
|Loeys-Dietz syndrome
|TGF-β Pathway
|TGFBR1/TGFBR2
|
|-
|Aneurysm-Osteoarthritis Syndrome
|
|SMAD3
|SMAD3
|-
|Autosomal Dominant Polycystic Kidney Disease
|Ciliopathy
|''PKD1PKD2''
|Polycystin 1
Polycystin 2
|-
|Turner Syndrome
|Meiotic Error with Monosomy, Mosaicism, or De Novo Germ Cell Mutation
|45X
45XO
|Partial or Complete Absence of X Chromosome
|-
|Bicuspid Aortic Valve with TAA
|Neural Crest Migration
|''NOTCH1''
|Notch 1
|-
|Familial TAA
|Smooth Muscle Contraction Proteins
|''ACTA2''
|α-Smooth Muscle Actin
|-
|Familial TAA with Patent Ductus Arteriosus
|Smooth Muscle Contraction Proteins
|''MYH11''
|Smooth Muscle Myosin
|-
|Familial TAA
|Smooth Muscle Contraction Proteins
|''MYLK''
|Myosin Light Chain Kinase
|-
|Familial TAA
|Smooth Muscle Contraction Proteins
|''PRKG1''
|Protein Kinase c-GMP Dependent, type I
|-
|-
| [[File:Siren.gif|30px|link=Aortic aneurysm resident survival guide]]|| <br> || <br>
|Loeys-Dietz Syndrome variants
| [[Aortic aneurysm resident survival guide|'''Resident'''<br>'''Survival'''<br>'''Guide''']]
|TGF-β Pathway
|''TGF-βR1TGF-βR2SMAD3TGF-β2TGF-β3''
|
|}
|}
{{Infobox_Disease
These genetic diseases mostly affect either the synthesis of [[extracellular matrix protein]] or damage the smooth muscle cells both important component's of the aortic wall. Injury to any of these components lead to weakening of the aortic wall and dilation - resulting in aneurysm formation.
| Name          = {{PAGENAME}}
 
| Image          = Aortic aneurysm 22.jpg
The [[aorta]] is the largest vessel of the body, but it is not homogenous. Its upper segment is composed by a larger proportion of [[elastin]] in comparison to [[collagen]], therefore being more distensible. The lower segment has a larger proportion of [[collagen]], therefore it is less distensible. It is also where most of the atherosclerotic plaques of the [[aorta]] are located.<ref name=":1" /> Historically it was thought that abdominal and thoracic aortic aneurysms were caused by the same etiology: [[Atherosclerosis|atherosclerotic]] degeneration of the aortic wall, but recently it has been theorized that they are indeed different diseases.<ref name=":1" />
| Caption        = Atherosclerotic Aneurysm: Gross, an excellent example, natural color, external view of typical thoracic aortic aneurysms <br> <small> [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology] </small>
 
}}
The [[aortic arch]] mostly derives from the [[neural crest cell]] which differentiate into [[Smooth muscle cell|smooth muscle cells]]. These [[Smooth muscle cell|smooth muscle cells]] are probably more adapted to remodel the thoracic [[aorta]] and manage the higher [[pulse pressure]] and ejection volume due to increased production of elastic lamellae during development and growth.<ref name=":1" /> The abdominal aorta remains with cells of [[Mesoderm|mesodermal]] origin, which are more similar to that of the original primitive arterial. That difference results in the [[neural crest cell]] precursors of the thoracic aorta being able to respond differently to various [[cytokines]] and growth factors than the [[Mesoderm|mesodermal]] precursors of the abdominal aorta,<ref>Ruddy JM, Jones JA, Ikonomidis JS. Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin. Progress in cardiovascular diseases. 2013;56(1):68–73.</ref> such as [[homocysteine]]<ref>Steed MM, Tyagi SC. Mechanisms of cardiovascular remodeling in hyperhomocysteinemia. Antioxidants & redox signaling. 2011;15(7):1927–1943. </ref> and [[Angiotensin|angiotensin II]].<ref>Bruemmer D, Daugherty A, Lu H, Rateri DL. Relevance of angiotensin II-induced aortic pathologies in mice to human aortic aneurysms. Ann N Y Acad Sci. 2011;1245:7–10.</ref>
{{Aortic aneurysm}}
 
When neural crest vascular smooth muscle cells are treated with [[TGF-β]] they demonstrate increased [[collagen]] production, while mesodermal vascular [[smooth muscle cell]] did not.<ref>Gadson PF, Jr, Dalton ML, Patterson E, et al. Differential response of mesoderm- and neural crest-derived smooth muscle to TGF-beta1: regulation of c-myb and alpha1 (I) procollagen genes. Experimental cell research. 1997;230(2):169–180.</ref> Not coincidently, mutations of the [[TGF-β]] receptor can cause thoracic aortic aneurysm but do not cause abdominal aortic ones.
 
The thoracic and abdominal aorta are very structurally different. While they both have three layers: [[Tunica intima|intimal]], [[Tunica media|medial]] and [[Tunica externa (vessels)|adventitia]], the media of the thoracic aorta is comprised of approximately 60 units divided into vascular and avascular regions. The abdominal aorta consists of about 30 units and is entirely avascular - being dependent on trans-intimal diffusion of nutrients for its smooth muscle cells to survive.<ref>Wolinsky H, Glagov S. Comparison of abdominal and thoracic aortic medial structure in mammals. Deviation of man from the usual pattern. Circulation research. 1969;25(6):677–686. </ref> It is believed that both differences explain why the abdominal aorta is more likely to form aneurysms.
 
The development of aortic aneurysms is defined by: [[inflammation]]: infiltration of the vessel wall by [[lymphocytes]] and [[macrophage]]; extracellular matrix damage: destruction of [[elastin]] and [[collagen]] by [[proteases]] (also [[metalloproteinases]]) in the media and adventitia; cellular damage: loss of smooth muscle cells with thinning of the media; and insufficient repair: [[neovascularization]].<ref>Ailawadi G, Eliason JL, Upchurch GR Jr. Current concepts in the pathogenesis of abdominal aortic aneurysm. J Vasc Surg 2003;38:584-8.</ref>
 
In summary:
 
*The pathogenesis of aortic aneurysm is characterized by progressive dilation, rupture, and may present with [[dissection]];
*The pathological processes that lead to abdominal and thoracic aortic aneurysms may be very different from one another;
*The [[fibrillin-1]] gene mutation has been associated with the development of thoracic aortic aneurysms in [[Marfan's syndrome]];
*Other gene mutations coding for [[collagen]], elastin and other elements of the extracellular matrix have been associated with the development of aneurysms in some genetic disorders, including [[Ehlers-Danlos syndrome]] and others;
*Mutations in the [[TGF-β]] pathway have also been described in the pathogenesis of aortic aneurysms in multiple genetic disorders, including [[Loeys-Dietz syndrome]].
 
==Clinical Features== 
 
==Differentiating Aortic Aneurysm from other Diseases==
'''Thoracic aortic aneurysms:''' differential diagnosis include other causes of chest pain: acute [[aortic dissection]], acute [[pericarditis]], [[aortic regurgitation]], [[heart failure]], [[Hypertensive Emergencies|hypertensive emergencies]], [[infective endocarditis]], [[myocardial Infarction]], [[pulmonary embolism]], [[superior vena cava syndrome]]. <ref>Thoracic Aneurysm Differential Diagnoses - Medscape available at: https://emedicine.medscape.com/article/761627-differential</ref>
 
'''Abdominal aortic aneurysms:''' differential diagnosis include causes of pulsatile abdominal mass and/or abdominal pain such as [[ruptured viscus]], [[strangulated hernia]], ruptured visceral artery aneurysms, [[mesenteric ischemia]], acute [[cholecystitis]], ruptured hepatobiliary cancer, [[acute pancreatitis]], [[lymphomas]], and [[diverticular abscess]].<ref name=":3">Abdominal Aortic Aneurysm - Mayo Clinic<nowiki/>https://www.mayoclinic.org/diseases-conditions/abdominal-aortic-aneurysm/symptoms-causes/syc-20350688</ref>
 
These conditions can be easily differentiated using abdominal or thoracic imaging.
==Epidemiology and Demographics==
In the United States alone 15,000 people die yearly due to aortic aneurysms and it is the 13th leading cause of death. 1-2% of the population may have aortic aneurysms and [[prevalence]] rises up to 10% in older age groups. The disease varies according to where it takes place. In the thorax, the [[aortic arch]] is the less affected segment (10%) and the most common is the ascending aorta (50%). Regarding abdominal aneurysms, the infrarenal segment aortic aneurysms are three times more prevalent than the aortic aneurysms and [[Aortic dissection|dissections]].<ref name=":0">Kuivaniemi, Helena, Chris D. Platsoucas, and M. David Tilson III. "Aortic aneurysms: an immune disease with a strong genetic component." ''Circulation'' 117.2 (2008): 242-252.</ref>


Regarding other factors as age, abdominal aortic aneurysms usually present 10 years later than thoracic aortic aneurysms. Both lesions are more present in men, but the proportion is much higher regarding abdominal aortic aneurysms (6:1 male:female ratio) in comparison to thoracic ones.<ref name=":0" />


Abdominal aortic aneurysms also affect patients differently regarding race, as they are more prevalent among whites than blacks, asians and hispanics. It also seems to be declining in prevalence as evidenced by a Swedish study that found out a 2% prevalence of abdominal aortic aneurysms in comparison to earlier studies which reported 4-8%, probably due to risk-factor modification. <ref name=":5">Ernst, Calvin B. "Abdominal aortic aneurysm." ''New England Journal of Medicine'' 328.16 (1993): 1167-1172.</ref>
==Risk Factors==
Many risk factors are common between both forms of aortic aneurysms, but some are specific for each presentation:


'''For patient information on Thoracic aortic aneurysm, click [[Thoracic aortic aneurysm (patient information)|here]]'''
*'''Abdominal aortic aneurysm:''' smoking, male gender, age (>65 years), race (white), family history, other aneurysms.<ref name=":3" />
*'''Thoracic aortic aneurysm:''' smoking, age (>65 years), [[hypertension]], [[atherosclerosis]], family history, [[Marfan's syndrome]], [[Bicuspid Aortic Valve|bicuspid aortic valve]]. <ref>Thoracic Aortic Aneurysm - Mayo Clinic available at: https://www.mayoclinic.org/diseases-conditions/thoracic-aortic-aneurysm/symptoms-causes/syc-20350188</ref>


'''For patient information on Abdominal aortic aneurysm, click [[Abdominal aortic aneurysm (patient information)|here]]'''
== Natural History, Complications and Prognosis==
Even though the majority of the aortic aneurysms remain asymptomatic for years, their natural history is [[Dissection of aorta|dissection]] or [[Rupture of the aorta|rupture]].<ref name=":4" /> According to Laplace's law, as the aneurysms grow larger they have a higher rate of expansion. Due to that, the frequency of monitoring changes with the diameter of the abdominal aortic aneurysm, being every 3 years for aneurysms with a 3-3.4cm diameter, yearly for diameters of 3.5-4.4cm, and every 6 months for larger than 4.5cm.<ref name=":5" /> For the thoracic one, up to 80% of the aneurysms will eventually rupture, and patients present with a 10-20% five-year survival rate if they remain untreated.<ref name=":4" /> Risk of rupture doubles every 1cm in growth over the 5cm diameter in descending thoracic aorta.<ref>Juvonen T, Ergin MA, Galla JD, et al. Prospective study of the natural history of thoracic aortic aneurysms. Ann Thorac Surg 1997;63:1533-45</ref>


{{CMG}}, {{AE}}  [[User:Lina Ya'qoub|Lina Ya'qoub, MD]] '''Associate Editor-In-Chief:''' {{CZ}}
Besides rupturing and dissection of the aorta, aortic aneurysms can also present with systemic embolization and aortic regurgitation (if the thoracic aortic aneurysm is located in the ascending aorta). The altered blood flow in the aneurysm can also lead to the formation of blood cloths and embolization. <ref>Aortic Aneurysm: Symptoms and Complications - VeryWell Health available at: https://www.verywellhealth.com/aortic-aneurysm-symptoms-and-complications-4160769</ref>


==[[Aortic aneurysm overview|Overview]]==
== Diagnosis ==
===Diagnostic Criteria===
'''Abdominal aortic aneurysms:''' are considered a dilation of the abdominal aorta which presents with a permanent vessel diameter larger than 30mm (normal abdominal aortic diameter ranges from 15 to 25mm).<ref>Moxon, Joseph V., et al. "Diagnosis and monitoring of abdominal aortic aneurysm: current status and future prospects." ''Current problems in cardiology'' 35.10 (2010): 512-548.</ref> They can be diagnosed by abdominal ultrasound imaging, CT scan or MRI.


==[[Aortic aneurysm historical perspective|Historical Perspective]]==
'''Thoracic aortic aneurysms:''' generally an aneurysm is diagnosed when the axial diameter of the ascending aorta is larger than 5cm and 4cm for the descending aorta. When larger than normal but not reaching aneurysmal definition the terms dilatation and ectasia can be used.<ref name=":6">Thoracic Aortic Aneurysm - Radiopaedia.org - available at: https://radiopaedia.org/articles/thoracic-aortic-aneurysm</ref> The transthoracic ultrasound is not used due to the fact that thebones of the chest wall and the air inside the lungs makes the assessment of the aorta difficult. Instead it is chosen the CT scan, MRI or angiography for diagnosis.<ref name=":6" />


==[[Aortic aneurysm classification|Classification]]==
=== Symptoms: ===
Aortic aneurysms are largely an asymptomatic condition, but symptoms present differently according to the affected segment of the aorta.


==[[Aortic aneurysm pathophysiology|Pathophysiology]]==
'''Thoracic aortic aneurysms:''' patients are usually diagnosed in these contexts:


==[[Aortic aneurysm causes|Causes]]==
* Incidental finding as part of a routine examination (transthoracic echocardiography, computerized tomography of the chest, cardiac magnetic resonance imaging, routine chest radiograph);
* Acute presentation with thoracic aortic dissection or aneurysm rupture;
* Screening due to a relative of a patient presenting with aortic disease;
* Part of a known congenital cardiac condition. <ref>Clift, Paul F., and Elena Cervi. "A review of thoracic aortic aneurysm disease." ''Echo Research and Practice'' 7.1 (2020): R1-R10.</ref>


==[[Aortic aneurysm differential diagnosis|Differentiating Aortic aneurysm from other Diseases]]==
The aneurysms tend to grow slowly and most of them will never rupture. As they grow, however, their symptoms become more evident and present with mass effects over surrounding structures and pain. They may present with thoracic symptoms: interscapular or central pain, ripping chest pain and dyspnea. Atypical presentations include hoarseness, dizziness and dysphagia, due to esophageal compression.<ref>Hiller, H. G., and N. R. F. Lagattolla. "Thoracic aortic aneurysm presenting with dysphagia: a fatal delay in diagnosis." ''Thoracic surgical science'' 4 (2007).</ref> Aneurysm rupture lead to massive internal bleeding, hypovolemic shock and it is usually fatal.


==[[Aortic aneurysm epidemiology and demographics|Epidemiology and Demographics]]==
'''Abdominal aortic aneurysms:''' as the thoracic aneurysms, they begin asymptomatic but may cause symptoms as they grow and compress surrounding structures.<ref name=":2">Abdominal Aortic Aneurysm (AAA) Symptoms - Stanford Healthcare


==[[Aortic aneurysm risk factors|Risk Factors]]==
https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/abdominal-aortic-aneurysm/symptoms.html</ref>Even though they usually remain asymptomatic, when they rupture they present with an ensuing mortality of 85 to 90%., and symptomatic patients require urgent surgical repair.<ref>Kent, K. Craig. "Abdominal aortic aneurysms." ''New England journal of medicine'' 371.22 (2014): 2101-2108.</ref>


==[[Aortic aneurysm screening|Screening]]==
When symptomatic, abdominal aortic aneurysms present with:


==[[Aortic aneurysm natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
* Pain: in the chest, abdomen, lower back, or flanks. It may radiate to the groin, buttocks, or legs. The pain characteristics vary and may be deep, aching, gnawing, or throbbing It may also last for hours or days, not affected by movement. Occasionally, certain positions can be more comfortable and alleviate the symptoms;
* Pulsating abdominal mass;
* Ischemia: "cold foot" or a black or blue painful toe. This is usually the presentation when an aneurysm forms a blood cloth and it releases emboli to the lower extremities;
* Fever or weight loss if caused by inflammatory states such as [[vasculitis]].<ref name=":2" />


==Diagnosis==
If ruptured, the abdominal aortic aneurysm can present with sharp abdominal pain, often radiating to the back, discoloration of the skin and mucosa, tachycardia and low blood pressure due to hypovolemic shock.
[[Type page name here history and symptoms|History and Symptoms]] | [[Type page name here physical examination|Physical Examination]] | [[Type page name here laboratory findings|Laboratory Findings]] | [[Type page name here electrocardiogram|Electrocardiogram]] | [[Type page name here chest x ray|Chest X Ray]] | [[Type page name here CT|CT]] | [[Type page name here MRI|MRI]] | [[Type page name here echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Type page name here other imaging findings|Other Imaging Findings]] | [[Type page name here other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
Differential diagnosis include causes of pulsatile abdominal mass and/or abdominal pain such as ruptured viscus, strangulated hernia, ruptured visceral artery aneurysms, mesenteric ischemia, acute cholecystitis, ruptured hepatobiliary cancer, acute pancreatitis, lymphoma, and diverticular abscess.<ref name=":3" />
[[Type page name here medical therapy|Medical Therapy]] | [[Type page name here surgery|Surgery]] | [[Type page name here primary prevention|Primary Prevention]] | [[Type page name here secondary prevention|Secondary Prevention]] | [[Type page name here cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Type page name here future or investigational therapies|Future or Investigational Therapies]]
== Treatment ==
=== Medical Therapy ===
*Statins are recommended in cases associated with atherosclerosis.
*Blood pressure control
=== Surgery ===
Indication for elective surgical treatment is commonly discussed


==Case Studies==
*The mainstay of therapy for AAA is aneurysmal repair if diameter>5.5cm or size increased>0.5cm over 6 months.
[[Type page name here case study one|Case #1]]
*Surgical repair is indicated in cases of TAA dissection and progressive enlargement.
=== Prevention ===
*Smoking cessation is an important measure to prevent AAA progression and rupture.


==Related Chapters==
==Related Chapters==

Revision as of 17:17, 8 June 2020

Aortic Aneurysm Overview

An aortic aneurysm is a dilation of the aorta in which the aortic diameter is ≥ 3.0 cm[1], usually representing an underlying weakness in the wall of the aorta at that location. While the stretched vessel may occasionally cause discomfort, a greater concern is the risk of rupture which causes severe pain, massive internal hemorrhage which are often fatal. Aneurysms often are a source of blood clots (emboli) stemming from the most common etiology of atherosclerosis.

Classification

There are 2 types of aortic aneurysms: thoracic and abdominal. These can be further classified according to the respective part of the vessel that's been affected:

  • Thoracic aortic aneurysm, which occur in the thoracic aorta (runs through the chest);
  • Abdominal aortic aneurysm, which occur in the abdominal aorta, are the most common.
    • Suprarenal - not as common, often more difficult to repair surgically due to the presence of many aortic branches;
    • Infrarenal - often more easily surgically repaired and more common;
    • Pararenal - aortic aneurysm is infrarenal but affects renal arteries;
    • Juxtarenal - infrarenal aortic aneurysm that affects the aorta just below the renal arteries.

Thoracoabdominal aortic aneurysm may also be classified according to Crawford classification into 5 subtypes/groups:

  • Type 1: from the origin of left subclavian artery in descending thoracic aorta to the supra-renal abdominal aorta.
  • Type 2: from the left subclavian to the aorto-iliac bifurcation.
  • Type 3: from distal thoracic aorta to the aorto-iliac bifurcation
  • Type 4: limited to abdominal aorta below the diaphragm
  • Type 5: from distal thoracic aorta to celiac and superior mesenteric origins, but not the renal arteries.[2]

Historical Perspective

Aortic aneurysm was first recorded by Antyllus, a Greek surgeon, in the second century AD. In the Renaissaince era, in 1555, Vesalius first diagnosed an abdominal aortic aneurysm. The first publication on the pathology with case studies was published by Lancisi in 1728. Finally, in 1817, Astley Cooper was the first surgeon to ligate the abdominal aorta to treat a ruptured iliac aneurysm. In 1888, Rudoff Matas came up with the concept of endoaneurysmorrhaphy. [3]

Pathophysiology

The aortic aneurysms are a multifactorial disease associated with genetic and environmental risk factors. Marfan's syndrome and Ehlers-Danlos syndrome are associated with the disease, but there are also rarer syndromes like the Loeys-Dietz syndrome that are associated as well. Even in patients that do not have genetic syndromes, it has been observed that genetics can also play a role on aortic aneurysms' development. There has been evidence of genetic heterogeneity as there has already been documented in intracranial aneurysms.[4] The genetic alterations associated with these genetic syndromes are the following:

Genetic diseases associated with aortic aneurysms [5]
Disease Involved Cellular Pathway Mutated Gene(s) Affected Protein(s)
Ehlers-Danlos syndrome type IV Extracellular Matrix Proteins COL3A1 Collagen type III
Marfan's syndrome Extracellular Matrix Proteins FBN1 Fibrillin-1
Loeys-Dietz syndrome TGF-β Pathway TGFBR1/TGFBR2
Aneurysm-Osteoarthritis Syndrome SMAD3 SMAD3
Autosomal Dominant Polycystic Kidney Disease Ciliopathy PKD1PKD2 Polycystin 1

Polycystin 2

Turner Syndrome Meiotic Error with Monosomy, Mosaicism, or De Novo Germ Cell Mutation 45X

45XO

Partial or Complete Absence of X Chromosome
Bicuspid Aortic Valve with TAA Neural Crest Migration NOTCH1 Notch 1
Familial TAA Smooth Muscle Contraction Proteins ACTA2 α-Smooth Muscle Actin
Familial TAA with Patent Ductus Arteriosus Smooth Muscle Contraction Proteins MYH11 Smooth Muscle Myosin
Familial TAA Smooth Muscle Contraction Proteins MYLK Myosin Light Chain Kinase
Familial TAA Smooth Muscle Contraction Proteins PRKG1 Protein Kinase c-GMP Dependent, type I
Loeys-Dietz Syndrome variants TGF-β Pathway TGF-βR1TGF-βR2SMAD3TGF-β2TGF-β3

These genetic diseases mostly affect either the synthesis of extracellular matrix protein or damage the smooth muscle cells both important component's of the aortic wall. Injury to any of these components lead to weakening of the aortic wall and dilation - resulting in aneurysm formation.

The aorta is the largest vessel of the body, but it is not homogenous. Its upper segment is composed by a larger proportion of elastin in comparison to collagen, therefore being more distensible. The lower segment has a larger proportion of collagen, therefore it is less distensible. It is also where most of the atherosclerotic plaques of the aorta are located.[1] Historically it was thought that abdominal and thoracic aortic aneurysms were caused by the same etiology: atherosclerotic degeneration of the aortic wall, but recently it has been theorized that they are indeed different diseases.[1]

The aortic arch mostly derives from the neural crest cell which differentiate into smooth muscle cells. These smooth muscle cells are probably more adapted to remodel the thoracic aorta and manage the higher pulse pressure and ejection volume due to increased production of elastic lamellae during development and growth.[1] The abdominal aorta remains with cells of mesodermal origin, which are more similar to that of the original primitive arterial. That difference results in the neural crest cell precursors of the thoracic aorta being able to respond differently to various cytokines and growth factors than the mesodermal precursors of the abdominal aorta,[6] such as homocysteine[7] and angiotensin II.[8]

When neural crest vascular smooth muscle cells are treated with TGF-β they demonstrate increased collagen production, while mesodermal vascular smooth muscle cell did not.[9] Not coincidently, mutations of the TGF-β receptor can cause thoracic aortic aneurysm but do not cause abdominal aortic ones.

The thoracic and abdominal aorta are very structurally different. While they both have three layers: intimal, medial and adventitia, the media of the thoracic aorta is comprised of approximately 60 units divided into vascular and avascular regions. The abdominal aorta consists of about 30 units and is entirely avascular - being dependent on trans-intimal diffusion of nutrients for its smooth muscle cells to survive.[10] It is believed that both differences explain why the abdominal aorta is more likely to form aneurysms.

The development of aortic aneurysms is defined by: inflammation: infiltration of the vessel wall by lymphocytes and macrophage; extracellular matrix damage: destruction of elastin and collagen by proteases (also metalloproteinases) in the media and adventitia; cellular damage: loss of smooth muscle cells with thinning of the media; and insufficient repair: neovascularization.[11]

In summary:

  • The pathogenesis of aortic aneurysm is characterized by progressive dilation, rupture, and may present with dissection;
  • The pathological processes that lead to abdominal and thoracic aortic aneurysms may be very different from one another;
  • The fibrillin-1 gene mutation has been associated with the development of thoracic aortic aneurysms in Marfan's syndrome;
  • Other gene mutations coding for collagen, elastin and other elements of the extracellular matrix have been associated with the development of aneurysms in some genetic disorders, including Ehlers-Danlos syndrome and others;
  • Mutations in the TGF-β pathway have also been described in the pathogenesis of aortic aneurysms in multiple genetic disorders, including Loeys-Dietz syndrome.

Clinical Features

Differentiating Aortic Aneurysm from other Diseases

Thoracic aortic aneurysms: differential diagnosis include other causes of chest pain: acute aortic dissection, acute pericarditis, aortic regurgitation, heart failure, hypertensive emergencies, infective endocarditis, myocardial Infarction, pulmonary embolism, superior vena cava syndrome. [12]

Abdominal aortic aneurysms: differential diagnosis include causes of pulsatile abdominal mass and/or abdominal pain such as ruptured viscus, strangulated hernia, ruptured visceral artery aneurysms, mesenteric ischemia, acute cholecystitis, ruptured hepatobiliary cancer, acute pancreatitis, lymphomas, and diverticular abscess.[13]

These conditions can be easily differentiated using abdominal or thoracic imaging.

Epidemiology and Demographics

In the United States alone 15,000 people die yearly due to aortic aneurysms and it is the 13th leading cause of death. 1-2% of the population may have aortic aneurysms and prevalence rises up to 10% in older age groups. The disease varies according to where it takes place. In the thorax, the aortic arch is the less affected segment (10%) and the most common is the ascending aorta (50%). Regarding abdominal aneurysms, the infrarenal segment aortic aneurysms are three times more prevalent than the aortic aneurysms and dissections.[4]

Regarding other factors as age, abdominal aortic aneurysms usually present 10 years later than thoracic aortic aneurysms. Both lesions are more present in men, but the proportion is much higher regarding abdominal aortic aneurysms (6:1 male:female ratio) in comparison to thoracic ones.[4]

Abdominal aortic aneurysms also affect patients differently regarding race, as they are more prevalent among whites than blacks, asians and hispanics. It also seems to be declining in prevalence as evidenced by a Swedish study that found out a 2% prevalence of abdominal aortic aneurysms in comparison to earlier studies which reported 4-8%, probably due to risk-factor modification. [14]

Risk Factors

Many risk factors are common between both forms of aortic aneurysms, but some are specific for each presentation:

Natural History, Complications and Prognosis

Even though the majority of the aortic aneurysms remain asymptomatic for years, their natural history is dissection or rupture.[2] According to Laplace's law, as the aneurysms grow larger they have a higher rate of expansion. Due to that, the frequency of monitoring changes with the diameter of the abdominal aortic aneurysm, being every 3 years for aneurysms with a 3-3.4cm diameter, yearly for diameters of 3.5-4.4cm, and every 6 months for larger than 4.5cm.[14] For the thoracic one, up to 80% of the aneurysms will eventually rupture, and patients present with a 10-20% five-year survival rate if they remain untreated.[2] Risk of rupture doubles every 1cm in growth over the 5cm diameter in descending thoracic aorta.[16]

Besides rupturing and dissection of the aorta, aortic aneurysms can also present with systemic embolization and aortic regurgitation (if the thoracic aortic aneurysm is located in the ascending aorta). The altered blood flow in the aneurysm can also lead to the formation of blood cloths and embolization. [17]

Diagnosis

Diagnostic Criteria

Abdominal aortic aneurysms: are considered a dilation of the abdominal aorta which presents with a permanent vessel diameter larger than 30mm (normal abdominal aortic diameter ranges from 15 to 25mm).[18] They can be diagnosed by abdominal ultrasound imaging, CT scan or MRI.

Thoracic aortic aneurysms: generally an aneurysm is diagnosed when the axial diameter of the ascending aorta is larger than 5cm and 4cm for the descending aorta. When larger than normal but not reaching aneurysmal definition the terms dilatation and ectasia can be used.[19] The transthoracic ultrasound is not used due to the fact that thebones of the chest wall and the air inside the lungs makes the assessment of the aorta difficult. Instead it is chosen the CT scan, MRI or angiography for diagnosis.[19]

Symptoms:

Aortic aneurysms are largely an asymptomatic condition, but symptoms present differently according to the affected segment of the aorta.

Thoracic aortic aneurysms: patients are usually diagnosed in these contexts:

  • Incidental finding as part of a routine examination (transthoracic echocardiography, computerized tomography of the chest, cardiac magnetic resonance imaging, routine chest radiograph);
  • Acute presentation with thoracic aortic dissection or aneurysm rupture;
  • Screening due to a relative of a patient presenting with aortic disease;
  • Part of a known congenital cardiac condition. [20]

The aneurysms tend to grow slowly and most of them will never rupture. As they grow, however, their symptoms become more evident and present with mass effects over surrounding structures and pain. They may present with thoracic symptoms: interscapular or central pain, ripping chest pain and dyspnea. Atypical presentations include hoarseness, dizziness and dysphagia, due to esophageal compression.[21] Aneurysm rupture lead to massive internal bleeding, hypovolemic shock and it is usually fatal.

Abdominal aortic aneurysms: as the thoracic aneurysms, they begin asymptomatic but may cause symptoms as they grow and compress surrounding structures.[22]Even though they usually remain asymptomatic, when they rupture they present with an ensuing mortality of 85 to 90%., and symptomatic patients require urgent surgical repair.[23]

When symptomatic, abdominal aortic aneurysms present with:

  • Pain: in the chest, abdomen, lower back, or flanks. It may radiate to the groin, buttocks, or legs. The pain characteristics vary and may be deep, aching, gnawing, or throbbing It may also last for hours or days, not affected by movement. Occasionally, certain positions can be more comfortable and alleviate the symptoms;
  • Pulsating abdominal mass;
  • Ischemia: "cold foot" or a black or blue painful toe. This is usually the presentation when an aneurysm forms a blood cloth and it releases emboli to the lower extremities;
  • Fever or weight loss if caused by inflammatory states such as vasculitis.[22]

If ruptured, the abdominal aortic aneurysm can present with sharp abdominal pain, often radiating to the back, discoloration of the skin and mucosa, tachycardia and low blood pressure due to hypovolemic shock.

Differential diagnosis include causes of pulsatile abdominal mass and/or abdominal pain such as ruptured viscus, strangulated hernia, ruptured visceral artery aneurysms, mesenteric ischemia, acute cholecystitis, ruptured hepatobiliary cancer, acute pancreatitis, lymphoma, and diverticular abscess.[13]

Treatment

Medical Therapy

  • Statins are recommended in cases associated with atherosclerosis.
  • Blood pressure control

Surgery

Indication for elective surgical treatment is commonly discussed

  • The mainstay of therapy for AAA is aneurysmal repair if diameter>5.5cm or size increased>0.5cm over 6 months.
  • Surgical repair is indicated in cases of TAA dissection and progressive enlargement.

Prevention

  • Smoking cessation is an important measure to prevent AAA progression and rupture.

Related Chapters


Template:WikiDoc Sources CME Category::Cardiology

  1. ↑ 1.0 1.1 1.2 1.3 Kuivaniemi, Helena, et al. "Understanding the pathogenesis of abdominal aortic aneurysms." Expert review of cardiovascular therapy 13.9 (2015): 975-987.
  2. ↑ 2.0 2.1 2.2 Frederick, John R., and Y. Joseph Woo. "Thoracoabdominal aortic aneurysm." Annals of cardiothoracic surgery 1.3 (2012): 277.
  3. ↑ Livesay, James J., Gregory N. Messner, and William K. Vaughn. "Milestones in treatment of aortic aneurysm: Denton A. Cooley, MD, and the Texas Heart Institute." Texas Heart Institute Journal 32.2 (2005): 130.
  4. ↑ 4.0 4.1 4.2 Kuivaniemi, Helena, Chris D. Platsoucas, and M. David Tilson III. "Aortic aneurysms: an immune disease with a strong genetic component." Circulation 117.2 (2008): 242-252.
  5. ↑ Bhandari, R., Kanthi, Y. - The Genetics of Aortic Aneurysms - The American College of Cardiology - available at:https://www.acc.org/latest-in-cardiology/articles/2018/05/02/12/52/the-genetics-of-aortic-aneurysms
  6. ↑ Ruddy JM, Jones JA, Ikonomidis JS. Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin. Progress in cardiovascular diseases. 2013;56(1):68–73.
  7. ↑ Steed MM, Tyagi SC. Mechanisms of cardiovascular remodeling in hyperhomocysteinemia. Antioxidants & redox signaling. 2011;15(7):1927–1943.
  8. ↑ Bruemmer D, Daugherty A, Lu H, Rateri DL. Relevance of angiotensin II-induced aortic pathologies in mice to human aortic aneurysms. Ann N Y Acad Sci. 2011;1245:7–10.
  9. ↑ Gadson PF, Jr, Dalton ML, Patterson E, et al. Differential response of mesoderm- and neural crest-derived smooth muscle to TGF-beta1: regulation of c-myb and alpha1 (I) procollagen genes. Experimental cell research. 1997;230(2):169–180.
  10. ↑ Wolinsky H, Glagov S. Comparison of abdominal and thoracic aortic medial structure in mammals. Deviation of man from the usual pattern. Circulation research. 1969;25(6):677–686.
  11. ↑ Ailawadi G, Eliason JL, Upchurch GR Jr. Current concepts in the pathogenesis of abdominal aortic aneurysm. J Vasc Surg 2003;38:584-8.
  12. ↑ Thoracic Aneurysm Differential Diagnoses - Medscape available at: https://emedicine.medscape.com/article/761627-differential
  13. ↑ 13.0 13.1 13.2 Abdominal Aortic Aneurysm - Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/abdominal-aortic-aneurysm/symptoms-causes/syc-20350688
  14. ↑ 14.0 14.1 Ernst, Calvin B. "Abdominal aortic aneurysm." New England Journal of Medicine 328.16 (1993): 1167-1172.
  15. ↑ Thoracic Aortic Aneurysm - Mayo Clinic available at: https://www.mayoclinic.org/diseases-conditions/thoracic-aortic-aneurysm/symptoms-causes/syc-20350188
  16. ↑ Juvonen T, Ergin MA, Galla JD, et al. Prospective study of the natural history of thoracic aortic aneurysms. Ann Thorac Surg 1997;63:1533-45
  17. ↑ Aortic Aneurysm: Symptoms and Complications - VeryWell Health available at: https://www.verywellhealth.com/aortic-aneurysm-symptoms-and-complications-4160769
  18. ↑ Moxon, Joseph V., et al. "Diagnosis and monitoring of abdominal aortic aneurysm: current status and future prospects." Current problems in cardiology 35.10 (2010): 512-548.
  19. ↑ 19.0 19.1 Thoracic Aortic Aneurysm - Radiopaedia.org - available at: https://radiopaedia.org/articles/thoracic-aortic-aneurysm
  20. ↑ Clift, Paul F., and Elena Cervi. "A review of thoracic aortic aneurysm disease." Echo Research and Practice 7.1 (2020): R1-R10.
  21. ↑ Hiller, H. G., and N. R. F. Lagattolla. "Thoracic aortic aneurysm presenting with dysphagia: a fatal delay in diagnosis." Thoracic surgical science 4 (2007).
  22. ↑ 22.0 22.1 Abdominal Aortic Aneurysm (AAA) Symptoms - Stanford Healthcare https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/abdominal-aortic-aneurysm/symptoms.html
  23. ↑ Kent, K. Craig. "Abdominal aortic aneurysms." New England journal of medicine 371.22 (2014): 2101-2108.
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