Thoracic aortic disease pathophysiology
Overview
Genetics
2010 ACCF/AHA Guideline Recommendations: Genetic Syndromes associated with Thoracic Aortic Aneurysms and Dissection (DO NOT EDIT) [1]
Recommendations for Genetic Syndromes of Familial Thoracic Aortic Aneurysms and Dissections
| Class IIa |
| "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. (Level of Evidence: B)" |
| Class IIb |
| "1. Sequencing of other genes known to cause familial thoracic aortic aneurysms and/or dissection (TGFBR1, TGFBR2, MYH11) may be considered in patients with a family history and clinical features associated with mutations in these genes. (Level of Evidence: 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. (Level of Evidence: C)" |
2010 ACCF/AHA Guideline Recommendations: Other Cardiovascular Conditions Associated with Thoracic Aortic Aneurysm and Dissection (DO NOT EDIT) [1]
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 disease 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 disease. (Level of Evidence: 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. (Level of Evidence: B)" |
References
- ↑ 1.0 1.1 Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE; et al. (2010). "2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine". Circulation. 121 (13): e266–369. doi:10.1161/CIR.0b013e3181d4739e. PMID 20233780.