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Marfan Syndrome
Marfan Syndrome
Randy R. Richardson, MD
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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

                                      1. 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
                                      2. Braverman AC et al: Bicuspid aortic valve in Marfan syndrome. Circ Cardiovasc Imaging. 12(3):e008860, 2019
                                      3. 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
                                      4. 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
                                      5. Cikach F et al: Thoracic aortic aneurysm: how to counsel, when to refer. Cleve Clin J Med. 85(6):481-92, 2018
                                      6. Raffa GM et al: Aortic surgery in Marfan patients with severe pectus excavatum. J Cardiovasc Med (Hagerstown). 18(5):305-10, 2017
                                      7. Thacoor A: Mitral valve prolapse and Marfan syndrome. Congenit Heart Dis. 12(4):430-4, 2017
                                      8. Franken R et al: Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Int J Cardiol. 194:7-12, 2015
                                      9. Babin D et al: Robust segmentation methods with an application to aortic pulse wave velocity calculation. Comput Med Imaging Graph. 38(3):179-89, 2014
                                      10. Radke RM et al: Diagnosis and treatment of Marfan syndrome: an update. Heart. 100(17):1382-91, 2014
                                      11. Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
                                      12. Karpman C et al: Pneumothorax and bullae in Marfan syndrome. Respiration. 82(3):219-24, 2011
                                      13. Elefteriades JA: Indications for aortic replacement. J Thorac Cardiovasc Surg. 140(6 Suppl):S5-9; discussion S45-51, 2010
                                      14. 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
                                      15. Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
                                      16. Suzuki T et al: Familial spontaneous pneumothorax in two adult siblings with marfan syndrome. Ann Thorac Cardiovasc Surg. 16(5):362-4, 2010
                                      17. 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
                                      18. 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
                                      19. Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
                                      20. 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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                                      Related Differential Diagnoses
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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

                                                                          1. 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
                                                                          2. Braverman AC et al: Bicuspid aortic valve in Marfan syndrome. Circ Cardiovasc Imaging. 12(3):e008860, 2019
                                                                          3. 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
                                                                          4. 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
                                                                          5. Cikach F et al: Thoracic aortic aneurysm: how to counsel, when to refer. Cleve Clin J Med. 85(6):481-92, 2018
                                                                          6. Raffa GM et al: Aortic surgery in Marfan patients with severe pectus excavatum. J Cardiovasc Med (Hagerstown). 18(5):305-10, 2017
                                                                          7. Thacoor A: Mitral valve prolapse and Marfan syndrome. Congenit Heart Dis. 12(4):430-4, 2017
                                                                          8. Franken R et al: Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Int J Cardiol. 194:7-12, 2015
                                                                          9. Babin D et al: Robust segmentation methods with an application to aortic pulse wave velocity calculation. Comput Med Imaging Graph. 38(3):179-89, 2014
                                                                          10. Radke RM et al: Diagnosis and treatment of Marfan syndrome: an update. Heart. 100(17):1382-91, 2014
                                                                          11. Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
                                                                          12. Karpman C et al: Pneumothorax and bullae in Marfan syndrome. Respiration. 82(3):219-24, 2011
                                                                          13. Elefteriades JA: Indications for aortic replacement. J Thorac Cardiovasc Surg. 140(6 Suppl):S5-9; discussion S45-51, 2010
                                                                          14. 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
                                                                          15. Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
                                                                          16. Suzuki T et al: Familial spontaneous pneumothorax in two adult siblings with marfan syndrome. Ann Thorac Cardiovasc Surg. 16(5):362-4, 2010
                                                                          17. 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
                                                                          18. 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
                                                                          19. Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
                                                                          20. 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