1、Diseases of the Aorta,Fred Wu, M.D. April 19, 2006,Categories of aortic disease,Aneurysm Pseudoaneurysm Dissection Penetrating atherosclerotic ulcer Intramural hematoma Atherosclerotic disease Coarctation,Thoracic aortic aneurysms,Aortopathy due to heritable diseases (20% of aneurysms) Marfan syndro
2、me Ehlers-Danlos syndrome Familial Annuloaortic ectasia Turner syndrome Noonan syndrome Osteogenesis imperfecta Bicuspid aortic valve Coarctation of the aorta Metabolic disorders (eg, homocystinuria, familial hypercholesterolemia) Aortic arteritis (Takayasus, giant-cell) Trauma Pregnancy Syphilis/in
3、fectious Crack cocaine use Iatrogenic causes (eg, cardiac catheterization) Atherosclerosis Hypertension,Marfan Syndrome,Autosomal dominant inheritance Missense mutation in the fibrillin gene on chromosome 15 Prevalence is 1 in 10,000 (25% sporadic) Leading cause of premature death is aortic root ane
4、urysm leading to dissection (cystic medial degeneration),Marfan Syndrome,Ghent Criteria Index case Major criteria in 2 different organ systems and involvement in a third organ system Family history Major criterion in family/genetics and 1 major criterion in an organ system and involvement in a secon
5、d organ system,Marfan Syndrome,Skeletal Major (at least 4 items) Pectus carinatum Pectus excavatum requiring surgery Decreased upper to lower segment ratio OR increased arm spam to height ratio Wrist and thumb signs Scoliosis 20 degrees Decreased elbow extension Pes planus Protrusio acetabulae Minor
6、 Pectus excavatum (moderate) Joint hypermobility High arched palate with crowding of teeth Facial appearance Ocular Major Ectopia lentis Minor Abnormally flat cornea Increased axial length of globe Hypoplastic iris or ciliary muscle Skin and integument Minor only Striae not associated with weight ch
7、ange, pregnancy or stress Recurrent or incisional hernias,Pulmonary Minor only Spontaneous pneumothorax Apical blebs Dura Major only Lumbosacral dural ectasia Cardiovascular Major Dilatation of the ascending aorta involving at least the sinuses of Valsalva Dissection of the ascending aorta Minor Mit
8、ral valve prolapse with or without MR Mitral annular calcification before age 40 Dilation or dissection of descending aorta before age 50 Dilation of the PA without cause before age 40 Familial/genetic Major only First degree relative who meets criteria independently Presence of mutation in FBN1 kno
9、wn to cause MFS Presence of haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed MFS in family,Marfan Syndrome,Skeletal Major (at least 4 items) Pectus carinatum Pectus excavatum requiring surgery Decreased upper to lower segment ratio OR increased arm spa
10、m to height ratio Wrist and thumb signs Scoliosis 20 degrees Decreased elbow extension Pes planus Protrusio acetabulae Minor Pectus excavatum (moderate) Joint hypermobility High arched palate with crowding of teeth Facial appearance Ocular Major Ectopia lentis Minor Abnormally flat cornea Increased
11、axial length of globe Hypoplastic iris or ciliary muscle Skin and integument Minor only Striae not associated with weight change, pregnancy or stress Recurrent or incisional hernias,Pulmonary Minor only Spontaneous pneumothorax Apical blebs Dura Major only Lumbosacral dural ectasia Cardiovascular Ma
12、jor Dilatation of the ascending aorta involving at least the sinuses of Valsalva Dissection of the ascending aorta Minor Mitral valve prolapse with or without MR Mitral annular calcification before age 40 Dilation or dissection of descending aorta before age 50 Dilation of the PA without cause befor
13、e age 40 Familial/genetic Major only First degree relative who meets criteria independently Presence of mutation in FBN1 known to cause MFS Presence of haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed MFS in family,Familial TAA Syndromes,At least 19% o
14、f patients with thoracic aortic aneurysms (without overt connective tissue disorders) have a family history Tend to present younger than those presenting sporadically Genetically heterogeneous,Bicuspid aortic valve,Initially, ascending thoracic aortic aneurysms in BAV thought to be due to poststenot
15、ic dilatation 75% with cystic medial necrosis on pathology compared with 14% of those with tricuspid aortic valves,Bicuspid aortic valve,Nistri et al demonstrated 52% incidence of aortic dilatation in patients with normally functioning bicuspid aortic valve,Syphilitic (luetic) aortitis,Latent period
16、 from initial spirochetal infection averages 10-30 years (range 5 to 40 years) Due to direct infection of aortic media leading to an obliterative endarteritis of the vasa vasorum and destruction of collagen and elastic tissues (“tree barking”),Turner Syndrome,Associated with bicuspid aortic valve (3
17、0%) and coarctation. 42% of screened patients by one study with aortic root dilatation Aortic root dilatation can be seen with or without BAV, but when both are present risk of dissection is probably compounded Screening recommended every 5yrs,Aortic arteritis,Takayasus arteritis Typically causes ob
18、literative luminal changes 15% of patients may have aortic dilatation/aneurysms Giant-cell arteritis Up to 20% can have thoracic or abdominal aortic aneurysms,Thoracic aortic aneurysms,Symptoms: Majority are asymptomatic at diagnosis Chest and/or back pain Hoarseness Cough, dyspnea, stridor Dysphagi
19、a Signs: Distended neck vein(s) Aortic regurgitation Fixed vocal cord Systemic and/or cerebral embolism,Thoracic aortic aneurysms,Diagnosis Chest X-ray (poor sensitivity) Widened mediastinum Enlarged aortic knob Tracheal deviation CT/MR angiography Accurate detection and sizing of thoracic aortic an
20、eurysms MR may be preferably for involvement of aortic root TTE/TEE TTE generally not recommended for diagnosing and sizing thoracic aortic aneurysms except in patients with Marfan syndrome Invasive nature of TEE prevents it from being imaging modality of choice,Thoracic aortic aneurysms,Natural his
21、tory Longitudinal data suggests mean increase of 0.1-0.25 cm/yr Greater for descending vs. ascending Greater for dissected vs. nondissected Greater for Marfan vs. non-Marfan Critical sizes (initial aneurysm size) Ascending: 6.0 cm; 31% risk of rupture Descending: 7.0 cm; 43% risk of rupture Yearly e
22、vent rate (6.0 cm): 14.1%,Davies et al. Ann Thorac Surg 2002; 73:17-28.,Thoracic aortic aneurysms,Surgical management Ascending thoracic aortic aneurysms: 5.5cm Those with increased operative risk: 6cm Marfan/BAV: 5cm or less (prophylactic replacement with aortic valve surgery if 4cm or greater) Des
23、cending thoracic aortic aneurysms: 6cm Symptoms; rapid enlargement,Thoracic aortic aneurysms,Medical management Blood pressure Beta-blocker In randomized study of adult with Marfan syndrome, propranolol over 10 years resulted in slower rate of aortic dilatation, fewer aortic events, and lower mortal
24、ity Other antihypertensives Target SBP 120 mmHg or less,70 adolescents and young adults with MFS Propranolol vs placebo Some nonresponders,NEJM 1994;330:1335-1341,Thoracic aortic aneurysms,Medical management Anti-oxidants Some studies suggest benefit of adding statins and/or angiotensin II type I re
25、ceptor blockers (no clinical trials) Exercise limitations No strenuous isometric exertion Aerobic exercise generally safe provided there is no hypertensive response to exercise (180 mmHg) Discontinue tobacco,Thoracic aortic aneurysms,Serial Imaging All patients should get at least one baseline imagi
26、ng study that includes the abdominal aorta Repeat imaging 6 months after initial diagnosis Depending on rate of change, subsequent studies can be performed at 3, 6 or 12 month intervals,Abdominal aortic aneurysms,Abdominal aortic aneurysms,VA Cooperative Study found a 1.3% incidence of abdominal aor
27、tic aneurysms larger than 4.0 cm on screening of 125,000 patients age 50 or older It is estimated that only 50% of AAAs are currently diagnosed High mortality 65-85% for ruptured abdominal aortic aneurysms Rupture of abdominal aortic aneurysms causes 15,000 deaths per year in the US,Lederle et al, A
28、rch Intern Med 2000; 160:1425-30.,Abdominal aortic aneurysms,Risk factors for presence of abdominal aortic aneurysm,Lederle et al, Arch Intern Med 2000; 160:1425-30.,Abdominal aortic aneurysm,Atherosclerosis breakdown of collagen, elastin Smoking, hypertension, hyperlipidemia Connective tissue disor
29、ders Marfan Syndrome Ehlers-Danlos syndrome Vascular inflammation Aortic arteritis (Takayasus, giant-cell) Behcets Tuberculosis Brucellosis, salmonellosis Trauma Iatrogenic causes (eg, cardiac catheterization or previous surgery),Abdominal aortic aneurysms,Unruptured Usually asymptomatic, diagnosed
30、incidentally Awareness of heartbeat in abdomen Chronic vague abdominal/back pain Distal embolisation Uerterohydronephrosis Ruptured Complaint of pain Usually sudden onset Often in abdomen, but also lower back or flank May radiate to buttocks, groin, testicles or leg May be constant, throbbing or col
31、icky Shock Pulsatile abdominal mass Syncope or lightheadedness,Abdominal aortic aneurysms,Physical exam Palpation of supraumbilical area for pulsatile mass 3.0-3.9cm Sens 61% 4.0-4.9cm Sens 69% 5.0cm Sens 82% Imaging (62% of cases found incidentally) Ultrasound should we be screening? CT/CT angio MR
32、I/MRA Contrast angiography,Abdominal aortic aneurysms,9.4%,10.2%,32.5%,n=52,n=85,n=61,JAMA 2002; 287:2968,Natural history,Abdominal aortic aneurysms,Surgical indications: Rupture or impending rupture (90% mortality) In patients with the clinical triad of abdominal and/or back pain, a pulsatile abdom
33、inal mass, and hypotension, immediate surgical evaluation is indicated. (Level of Evidence: B) Class I Patients with infrarenal or juxtarenal AAAs measuring 5.5 cm or larger should undergo repair to eliminate the risk of rupture. (Level of Evidence: B) In patients with symptomatic (e.g. embolization
34、, ureteral compresion) aortic aneurysms, repair is indicated regardless of diameter. (Level of Evidence: C),Abdominal aortic aneurysms,Surgical indications: Class IIa: Repair can be beneficial in patients with infrarenal or juxtarenal AAAs 5.0 to 5.4 cm in diameter (Level of Evidence: B) Repair is p
35、robably indicated in patients with suprarenal or type IV thoracoabdominal aortic aneurysms larger than 5.5 to 6.0 cm. (Level of Evidence: B) Class III: Intervention is not recommended for asymptomatic infrarenal or juxtarenal AAAs if they measure less than 5.0 cm in diameter in men or less than 4.5
36、cm in diameter in women. (Level of Evidence: A) Not mentioned: Rapid expansion (1.0 cm in 12 months) Inflammatory of infectious etiology,Abdominal aortic aneurysms,Endovascular repair: Eliminates need for major transabdominal surgery Can be performed under regional or local anesthesia May be useful
37、in setting of severe cardiopulmonary disease, advanced age, morbid obesity or history of multiple abdominal surgeries,Abdominal aortic aneurysms,Endovascular repair: Patients need adequate length of relatively noral aorta below the renal arteries because of high risk for proximal attachment failure,
38、 graft migration, and endoleak Because of inflexibility of these grafts, the segment of aorta can not be severely angulated.,Abdominal aortic aneurysms,Endograft indications: Class I: Open repair of infrarenal AAAs and/or common iliac aneurysms is indicated in patients who are good or average surgic
39、al candidates (Level of Evidence: B) Periodic long-term surveillance imaging should be performed to monitor for an endoleak, to document shrinkage or stability of the excluded aneurysm sac, and to determine the need for further intervention in patients who have undergone endovascular repair of intra
40、renal aortic and/or iliac aneurysms (Level of Evidence: B),Abdominal aortic aneurysms,Endograft indications: Class IIa: Endovascular repair in infrarenal aortic and/or common iliac aneurysms is reasonable in patients at high risk of complications from open operations because of cardiopulmonary or ot
41、her associated diseases. (Level of Evidence: B) Class IIb: Endovascular repair of infrarenal aortic and/or common iliac aneurysms may be considered in patients at low or average surgical risk. (Level of Evidence: B),Abdominal aortic aneurysms,Medical therapy: Class I In patients with AAAs, blood pre
42、ssure and fasting serum lipid values should be monitored and controlled as recommended for patients with atherosclerotic disease. (Level of Evidence: C) Patients with aneurysms or a family history of aneurysms should be advised to stop smoking and be offered smoking cessation interventions, includin
43、g behavior modification, nicotine replacement, or bupropion. (Level of Evidence: B),Abdominal aortic aneurysms,Medical therapy: Class I Perioperative administration of beta-adrenergic blocking agents, in the absence of contraindications, is indicated to reduce the risk of adverse cardiac events and
44、mortality in patients with coronary artery disease undergoing surgical repair of atherosclerotic aortic aneurysms. (Level of Evidence: A) Class IIb Beta-adrenergic blocking agents may be considered to reduce the rate of aneurysm expansion in patients with aortic aneurysms. (Level of Evidence: B),Abd
45、ominal aortic aneurysms,Surveillance: Class I Patients with infrarenal or juxtarenal AAAs measuring 4.0 to 5.4 cm in diameter should be monitored by ultrasound or CT scans every 6 to 12 months to detect expansion. (Level of Evidence: A) Class IIa In patients with AAAs smaller than 4.0 cm in diameter
46、, monitoring by ultrasound examination every 2 to 3 years is reasonable. (Level of Evidence: B),Abdominal aortic aneurysms,Screening: Clinical examination lacks sensitivity Early detection reduces mortality Class I Men 60 years of age or older who are either the siblings or offspring of patients wit
47、h AAAs should undergo physical examination and ultrasound screening for detection of aortic aneurysms. (Level of Evidence: B) Class IIa Men who are 65 to 75 years of age who have ever smoked should undergo a physical examination and 1-time ultrasound screening for detection of AAAs. (Level of Eviden
48、ce: B),Abdominal aortic aneurysms,Hypertension and other cardiovascular risk factors should be treated effectively discontinue tobacco Treat associated coronary and carotid disease Aneurysm with diameter over 3cm should be monitored every 12 months. When 5cm in man or 4.5cm in woman, should be follo
49、wed every 6 months Surgery when aneurysm exceeds 5.5cm (UK Small Aneurysm Trial, NEJM 2003; 348:1895-1901) About 1% of aneurysms with diameter of 4cm rupture annually compared with 10% of aneurysms 6cm or more. Mortality with rupture is 90% Elderly brothers of patients with known aneurysms should be
50、 screened (Salo, Ann intern med 1999; 130:637-42.,Inflammatory type 2-4% of all AAA Classic triad of abdominal/back pain, weight loss, and elevated ESR Obstructive uropathy Diagnosis: ultrasound, CT, MRI Unusually thickened aneurysm wall Shiny white perianeurysmal fibrosis Intense adherence to adjacent intraabdominal structures Accumulation of macrophages and cytokines in aneurysmal aortic tissue Treatment surgical grafting regardless of size Role of corticosteroids?,
