Inherited autosomal dominant connective tissue disorder due to FBN1 mutation → abnormal fibrillin-1
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Echocardiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Leidenberger T et al: Imaging-based 4D aortic pressure mapping in Marfan syndrome patients: a matched case-control study. Ann Thorac Surg. 109(5):1434-40, 2020
Braverman AC et al: Bicuspid aortic valve in Marfan syndrome. Circ Cardiovasc Imaging. 12(3):e008860, 2019
Guala A et al: Influence of aortic dilation on the regional aortic stiffness of bicuspid aortic valve assessed by 4-dimensional flow cardiac magnetic resonance: comparison with Marfan syndrome and degenerative aortic aneurysm. JACC Cardiovasc Imaging. 12(6):1020-9, 2019
Yuan X et al: Aortic imaging and biomechanics in Marfan syndrome: keep it simple but not too simple. Eur Heart J. 40(25):2055-7, 2019
Cikach F et al: Thoracic aortic aneurysm: how to counsel, when to refer. Cleve Clin J Med. 85(6):481-92, 2018
Raffa GM et al: Aortic surgery in Marfan patients with severe pectus excavatum. J Cardiovasc Med (Hagerstown). 18(5):305-10, 2017
Kiotsekoglou A et al: Effect of aortic stiffness on left ventricular long-axis systolic function in adults with marfan syndrome. Hellenic J Cardiol. 51(6):501-11, 2010
Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
Suzuki T et al: Familial spontaneous pneumothorax in two adult siblings with marfan syndrome. Ann Thorac Cardiovasc Surg. 16(5):362-4, 2010
Iacono MI et al: A method for morphological characterization of dural ectasia in Marfan syndrome. Conf Proc IEEE Eng Med Biol Soc. 2009:5764-7, 2009
Okamoto K et al: Giant left coronary ostial aneurysm after modified Bentall procedure in a Marfan patient. Interact Cardiovasc Thorac Surg. 7(6):1164-6, 2008
Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
Zangwill SD et al: Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1. Congenit Heart Dis. 1(5):229-32, 2006
Related Anatomy
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Definitions
Inherited autosomal dominant connective tissue disorder due to FBN1 mutation → abnormal fibrillin-1
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Echocardiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Leidenberger T et al: Imaging-based 4D aortic pressure mapping in Marfan syndrome patients: a matched case-control study. Ann Thorac Surg. 109(5):1434-40, 2020
Braverman AC et al: Bicuspid aortic valve in Marfan syndrome. Circ Cardiovasc Imaging. 12(3):e008860, 2019
Guala A et al: Influence of aortic dilation on the regional aortic stiffness of bicuspid aortic valve assessed by 4-dimensional flow cardiac magnetic resonance: comparison with Marfan syndrome and degenerative aortic aneurysm. JACC Cardiovasc Imaging. 12(6):1020-9, 2019
Yuan X et al: Aortic imaging and biomechanics in Marfan syndrome: keep it simple but not too simple. Eur Heart J. 40(25):2055-7, 2019
Cikach F et al: Thoracic aortic aneurysm: how to counsel, when to refer. Cleve Clin J Med. 85(6):481-92, 2018
Raffa GM et al: Aortic surgery in Marfan patients with severe pectus excavatum. J Cardiovasc Med (Hagerstown). 18(5):305-10, 2017
Kiotsekoglou A et al: Effect of aortic stiffness on left ventricular long-axis systolic function in adults with marfan syndrome. Hellenic J Cardiol. 51(6):501-11, 2010
Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
Suzuki T et al: Familial spontaneous pneumothorax in two adult siblings with marfan syndrome. Ann Thorac Cardiovasc Surg. 16(5):362-4, 2010
Iacono MI et al: A method for morphological characterization of dural ectasia in Marfan syndrome. Conf Proc IEEE Eng Med Biol Soc. 2009:5764-7, 2009
Okamoto K et al: Giant left coronary ostial aneurysm after modified Bentall procedure in a Marfan patient. Interact Cardiovasc Thorac Surg. 7(6):1164-6, 2008
Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
Zangwill SD et al: Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1. Congenit Heart Dis. 1(5):229-32, 2006
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