Acc/aha pocket Guideline Based on the 2010 accf/aha/aats
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- Bu səhifədəki naviqasiya:
- Defective Gene Leading to Familial Thoracic Aortic Aneurysms and Dissection Contribution
- Features Comments on Aortic Disease
- Genetic Syndrome Common Clinical Features Genetic Defect Diagnostic Test Comments on Aortic Disease
- Conditions Associated With Increased Aortic Wall Stress
- Conditions Associated With Aortic Media Abnormalities
- 8.1. Recommendations for Screening Tests
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Thoracic Aorta Range of Reported Mean (cm) Reported SD (cm) Assessment Method Root (female) 3.50 to 3.72 0.38
CT Root (male) 3.63 to 3.91 0.38
CT Ascending (female, male) 2.86
NA CXR
Mid-descending (female)
2.45 to 2.64 0.31
CT Mid-descending (male) 2.39 to 2.98 0.31 CT Diaphragmatic (female) 2.40 to 2.44 0.32 CT
(male) 2.43 to 2.69 0.27 to 0.40 CT, arteriography CT indicates computed tomographic imaging; CXR, chest x-ray; and NA, not applicable. Reprinted with permission from Johnston KW, Rutherford RB, Tilson MD, et al. Suggested standards for reporting on arterial aneurysms. Subcommittee on Reporting Standards for Arterial Aneurysms, Ad Hoc Committee on Reporting Standards, Society for Vascular Surgery and North American Chapter, International Society for Cardiovascular Surgery. J Vasc Surg. 1991;13:452–8.
18 4. Recommendations for Genetic Syndromes Class I
An echocardiogram is recommended at the time of diagnosis of Marfan syndrome to determine the aortic root and ascending aortic diameters and 6 months thereafter to determine the rate of enlarge- ment of the aorta. (LOE: C) 2. Annual imaging is recommended for patients with Marfan syndrome if stability of the aortic diameter is documented. If the maximal aortic diameter is 4.5 cm or greater, or if the aortic diameter shows significant growth from baseline, more frequent imaging should be considered. (LOE: C)
19 3. Patients with Loeys-Dietz syndrome or a confirmed genetic mutation known to predispose to aortic aneurysms and aortic dissections (TGFBR1, TGFBR2, FBN1, ACTA2, or MYH11) should undergo complete aortic imaging at initial diagnosis and 6 months thereafter to establish if enlargement is occurring. (LOE: C) 4. Patients with Loeys-Dietz syndrome should have yearly magnetic resonance imaging from the cerebrovascular circulation to the pelvis. (LOE: B) 5. Patients with Turner syndrome should undergo imaging of the heart and aorta for evidence of bicuspid aortic valve, coarctation of the aorta, or dilatation of the ascending thoracic aorta. If initial imaging is normal and there are no risk factors for aortic dissection, repeat imaging should be performed every 5 to 10 years or if otherwise clinically indicated. If abnormalities exist, annual imaging or follow-up imaging should be done. (LOE: C) 20 Class IIa 1. It is reasonable to consider surgical repair of the aorta in all adult patients with Loeys-Dietz syn- drome or a confirmed TGFBR1 or TGFBR2 mutation and an aortic diameter of 4.2 cm or greater by trans- esophageal echocardiogram (internal diameter) or 4.4 to 4.6 cm or greater by computed tomographic imaging and/or magnetic resonance imaging (exter- nal diameter). (LOE: C)
For women with Marfan syndrome contemplating pregnancy, it is reasonable to prophylactically replace the aortic root and ascending aorta if the diameter exceeds 4.0 cm. (LOE: C)
If the maximal cross-sectional area in square centimeters of the ascending aorta or root divided by the patient’s height in meters exceeds a ratio of 10, surgical repair is reasonable because shorter patients have dissection at a smaller size and 15% of patients with Marfan syndrome have dissection at a size smaller than 5.0 cm. (LOE: C) Class IIb
In patients with Turner syndrome with additional risk factors, including bicuspid aortic valve, coarcta- tion of the aorta, and/or hypertension, and in pa- tients who attempt to become pregnant or who be- come pregnant, it may be reasonable to perform im- aging of the heart and aorta to help determine the risk of aortic dissection. (LOE: C) 21 Table 4. Gene Defects Associated With Familial Thoracic Aortic Aneurysm and Dissection Defective Gene Leading to Familial Thoracic Aortic Aneurysms and Dissection Contribution to Familial Thoracic Aortic Aneurysms and Dissection Associated Clinical Features Comments on Aortic Disease TGFBR2 mutations 4% Thin,
translucent skin
Arterial or aortic
tortuosity Aneurysm of arteries Multiple aortic dissections documented at aortic diameters
mutations 1% Patent ductus arteriosus Patient with documented dissection at 4.5 cm
14%
Livedo reticularis Iris flocculi Patent ductus arteriosus Bicuspid aortic valve Two of 13 patients with documented dissections <5.0 cm
heavy chain; and TGFBR2, transforming growth factor-beta receptor type II.
22 Table 5. Genetic Syndromes Associated With Thoracic Aortic Aneurysm and Dissection
Marfan syndrome Skeletal features (see text) Ectopia lentis Dural ectasia
Ghent diagnostic criteria DNA for sequencing Surgical repair when the aorta reaches 5.0 cm unless there is a family history of AoD at <5.0 cm, a rapidly expanding aneurysm or presence or significant aortic valve regurgitation Loeys-Dietz syndrome Bifid uvula or cleft palate Arterial tortuosity Hypertelorism Skeletal features similar to MFS Craniosynostosis Aneurysms and dissections of other arteries TGFBR2 or TGFBR1 mutations DNA for sequencing Surgical repair recommended at an aortic diameter of ≥4.2 cm by TEE (internal diameter) or 4.4 to ≥4.6 cm by CT and/or MR (external diameter) Ehlers-Danlos syndrome, vascular form Thin, translucent skin Gastrointestinal rupture Rupture of the gravid uterus Rupture of medium-sized to large arteries
DNA for sequencing Dermal fibroblasts for analysis of type III collagen Surgical repair is complicated by friable tissues Noninvasive imaging recommended Turner syndrome Short stature Primary amenorrhea Bicuspid aortic valve Aortic coarctation Webbed neck, low-set ears, low hairline, broad chest 45,X karyotype Blood (cells) for karyotype analysis
AoD risk is increased in patients with bicuspid aortic valve, aortic coarctation, hypertension, or pregnancy * The defective gene at a second locus for MFS is TGFBR2 but the clinical phenotype as MFS is debated. AoD indicates aortic dissection; COL3A1, type III collagen; CT, computed tomographic imaging; FBN1, fibrillin 1; MFS, Marfan syndrome; MR, magnetic resonance imaging; TEE, transesophageal echocardiogram; TGFBR1, transforming growth factor-beta receptor type I; and TGFBR2, transforming growth factor-beta receptor type II. 23 Table 5. Genetic Syndromes Associated With Thoracic Aortic Aneurysm and Dissection
Marfan syndrome Skeletal features (see text) Ectopia lentis Dural ectasia
Ghent diagnostic criteria DNA for sequencing Surgical repair when the aorta reaches 5.0 cm unless there is a family history of AoD at <5.0 cm, a rapidly expanding aneurysm or presence or significant aortic valve regurgitation Loeys-Dietz syndrome Bifid uvula or cleft palate Arterial tortuosity Hypertelorism Skeletal features similar to MFS Craniosynostosis Aneurysms and dissections of other arteries TGFBR2 or TGFBR1 mutations DNA for sequencing Surgical repair recommended at an aortic diameter of ≥4.2 cm by TEE (internal diameter) or 4.4 to ≥4.6 cm by CT and/or MR (external diameter) Ehlers-Danlos syndrome, vascular form Thin, translucent skin Gastrointestinal rupture Rupture of the gravid uterus Rupture of medium-sized to large arteries
DNA for sequencing Dermal fibroblasts for analysis of type III collagen Surgical repair is complicated by friable tissues Noninvasive imaging recommended Turner syndrome Short stature Primary amenorrhea Bicuspid aortic valve Aortic coarctation Webbed neck, low-set ears, low hairline, broad chest 45,X karyotype Blood (cells) for karyotype analysis
AoD risk is increased in patients with bicuspid aortic valve, aortic coarctation, hypertension, or pregnancy * The defective gene at a second locus for MFS is TGFBR2 but the clinical phenotype as MFS is debated. AoD indicates aortic dissection; COL3A1, type III collagen; CT, computed tomographic imaging; FBN1, fibrillin 1; MFS, Marfan syndrome; MR, magnetic resonance imaging; TEE, transesophageal echocardiogram; TGFBR1, transforming growth factor-beta receptor type I; and TGFBR2, transforming growth factor-beta receptor type II. 24 5. Recommendations for Familial Thoracic Aortic Aneurysms and Dissections Class I
1. Aortic imaging is recommended for first-degree relatives of patients with thoracic aortic aneurysm and/or dissection to identify those with asymptom- atic disease. (LOE: B)
If the mutant gene (FBN1, TGFBR1, TGFBR2, COL3A1, ACTA2, MYH11) associated with aortic aneurysm and/or dissection is identified in a patient, first-degree relatives should undergo counseling and testing. Then, only the relatives with the genetic mutation should undergo aortic imaging. (LOE: C)
Class IIa 1. If one or more first-degree relatives of a patient with known thoracic aortic aneurysm and/or dissec- tion are found to have thoracic aortic dilatation, an- eurysm, or dissection, then imaging of second-de- gree relatives is reasonable. (LOE: B) 25 2. Sequencing of the ACTA2 gene is reasonable in patients with a family history of thoracic aortic aneurysms and/or dissections to determine if ACTA2 mutations are responsible for the inherited predisposition. (LOE: B) Class IIb
Sequencing of other genes known to cause famil- ial thoracic aortic aneurysms and/or dissection (TGFBR1, TGFBR2, MYH11) may be considered in pa- tients with a family history and clinical features as- sociated with mutations in these genes. (LOE: B) 2. If one or more first-degree relatives of a patient with known thoracic aortic aneurysm and/or dissection are found to have thoracic aortic dilatation, aneurysm, or dissection, then referral to a geneticist may be considered. (LOE: C) 26 6. Recommendations for Bicuspid Aortic Valve and Associated Congenital Variants in Adults
Class I 1. First-degree relatives of patients with a bicuspid aortic valve, premature onset of thoracic aortic dis- ease with minimal risk factors, and/or a familial form of thoracic aortic aneurysm and dissection should be evaluated for the presence of a bicuspid aortic valve and asymptomatic thoracic aortic dis- ease. (LOE: C) 2. All patients with a bicuspid aortic valve should have both the aortic root and ascending thoracic aorta evaluated for evidence of aortic dilatation. (LOE: B) 27 7. Recommendations for Estimation of Pretest Risk of Thoracic Aortic Dissection Class I
1. Providers should routinely evaluate any patient presenting with complaints that may represent acute thoracic aortic dissection to establish a pretest risk of disease that can then be used to guide diagnostic decisions. This process should include specific ques- tions about medical history, family history, and pain features as well as a focused examination to identify findings that are associated with aortic dissection, including: a. High-risk conditions and historical features
• Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, Turner syndrome, or other connective tissue disease. • Patients with mutations in genes known to predispose to thoracic aortic aneurysms and dissection, such as FBN1, TGFBR1, TGFBR2, ACTA2, and MYH11. • Family history of aortic dissection or thoracic aortic aneurysm. • Known aortic valve disease. • Recent aortic manipulation (surgical or catheter-based). • Known thoracic aortic aneurysm. 28 b. High-risk chest, back or abdominal pain features (LOE: B): • Pain that is abrupt or instantaneous in onset. • Pain that is severe in intensity. • Pain that has a ripping, tearing, stabbing, or sharp quality. c. High-risk examination features (LOE: B): • Pulse deficit. • Systolic blood pressure limb differential greater than 20 mm Hg. • Focal neurologic deficit. • Murmur of aortic regurgitation (new).
Patients presenting with sudden onset of severe chest, back and/or abdominal pain, particularly those less than 40 years of age, should be questioned about a history and examined for physical features of Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, Turner syndrome, or other connective tissue disorder associated with thoracic aortic disease. (LOE: B)
Patients presenting with sudden onset of severe chest, back, and/or abdominal pain should be questioned about a history of aortic pathology in immediate family members as there is a strong familial component to acute thoracic aortic disease. (LOE: B) 29 4. Patients presenting with sudden onset of severe chest, back and/or abdominal pain should be questioned about recent aortic manipulation (surgical or catheter-based) or a known history of aortic valvular disease, as these factors predispose to acute aortic dissection. (LOE: C)
In patients with suspected or confirmed aortic dissection who have experienced a syncopal episode, a focused examination should be performed to identify associated neurologic injury or the presence of pericardial tamponade. (LOE: C) 6. All patients presenting with acute neurologic complaints should be questioned about the presence of chest, back, and/or abdominal pain and checked for peripheral pulse deficits as patients with dissection-related neurologic pathology are less likely to report thoracic pain than the typical aortic dissection patient. (LOE: C) 30 Figur
e 2.
AoD Evaluation P athway . ACS indicates acute coronary syndrome; AoD , aortic dissection; BP , blood pressure; CNS , central nervous system; CT , computed tomographic imaging; CXR, chest
x-ray; EKG
, electrocardiogram; MR,
magnetic resonance imaging; STEMI,
ST -elev
ated myocardial infarction; TAD;
thoracic aortic disease; and
TEE,
transesophageal echocardiogram. 31 Figur
e 2.
AoD Evaluation P athway . ACS indicates acute coronary syndrome; AoD , aortic dissection; BP , blood pressure; CNS , central nervous system; CT , computed tomographic imaging; CXR, chest
x-ray; EKG
, electrocardiogram; MR,
magnetic resonance imaging; STEMI,
ST -elev
ated myocardial infarction; TAD;
thoracic aortic disease; and
TEE,
transesophageal echocardiogram. 32 Table 6. Risk Factors for Development of Thoracic Aortic Dissection Conditions Associated With Increased Aortic Wall Stress Hypertension, particularly if uncontrolled Pheochromocytoma Cocaine or other stimulant use Weight lifting or other Valsalva maneuver Trauma
Deceleration or torsional injury (eg, motor vehicle crash, fall) Coarctation of the aorta Conditions Associated With Aortic Media Abnormalities Genetic
Marfan syndrome Ehlers-Danlos syndrome, vascular form Bicuspid aortic valve (including prior aortic valve replacement) Turner syndrome Loeys-Dietz syndrome Familial thoracic aortic aneurysm and dissection syndrome Inflammatory vasculitides Takayasu arteritis Giant cell arteritis Behçet arteritis Other Pregnancy Polycystic kidney disease Chronic corticosteroid or immunosuppression agent administration Infections involving the aortic wall either from bacteremia or extension of adjacent infection 33 Figure 3. Aortic Dissection Classification: DeBakey and Stanford Classifications. Reprinted with permission from the Cleveland Clinic Foundation.
34 8. Initial Evaluation and Management of Acute Thoracic Aortic Disease
Class I
1. An electrocardiogram should be obtained on all patients who present with symptoms that may rep- resent acute thoracic aortic dissection. a. Given the relative infrequency of dissection- related coronary artery occlusion, the presence of ST-segment elevation suggestive of myocardial infarction should be treated as a primary cardiac event without delay for definitive aortic imaging unless the patient is at high risk for aortic dissection. (LOE: B)
The role of chest x-ray in the evaluation of possible thoracic aortic disease should be directed by the patient’s pretest risk of disease as follows. a. Intermediate risk: Chest x-ray should be performed on all intermediate-risk patients, as it may establish a clear alternate diagnosis that will obviate the need for definitive aortic imaging. (LOE: C) b. Low risk: Chest x-ray should be performed on all low-risk patients, as it may either establish an alternative diagnosis or demonstrate findings that are suggestive of thoracic aortic disease, indicating the need for urgent definitive aortic imaging. (LOE: C)
35 3. Urgent and definitive imaging of the aorta using transesophageal echocardiogram, computed tomographic imaging, or magnetic resonance imaging is recommended to identify or exclude thoracic aortic dissection in patients at high risk for the disease by initial screening. (LOE: B) Class III Yüklə 4,67 Mb. Dostları ilə paylaş:
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