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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
- Congenital connective tissue disorder characterized by skeletal, cardiovascular, and ocular abnormalities
IMAGING
Radiographic Findings
CT Findings
MR Findings
Echocardiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Diagnostic Checklist
Selected References
- Weinrich JM et al: Current and emerging imaging techniques in patients with genetic aortic syndromes. Rofo. 192(1):50-8, 2020
- Chu LC et al: CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions. AJR Am J Roentgenol. 202(5):1120-9, 2014
- Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
- Hiratzka LF et al: 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. 122(4):e410, 2010
- Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
- Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
- Boileau C et al: Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 20(3):194-200, 2005
- De Backer JF et al: Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol. 2005
- Judge DP et al: Marfan's syndrome. Lancet. 366(9501):1965-76, 2005
- Meijboom LJ et al: Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J. 26(9):914-20, 2005
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
- Congenital connective tissue disorder characterized by skeletal, cardiovascular, and ocular abnormalities
IMAGING
Radiographic Findings
CT Findings
MR Findings
Echocardiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Diagnostic Checklist
Selected References
- Weinrich JM et al: Current and emerging imaging techniques in patients with genetic aortic syndromes. Rofo. 192(1):50-8, 2020
- Chu LC et al: CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions. AJR Am J Roentgenol. 202(5):1120-9, 2014
- Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
- Hiratzka LF et al: 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. 122(4):e410, 2010
- Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
- Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
- Boileau C et al: Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 20(3):194-200, 2005
- De Backer JF et al: Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol. 2005
- Judge DP et al: Marfan's syndrome. Lancet. 366(9501):1965-76, 2005
- Meijboom LJ et al: Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J. 26(9):914-20, 2005
