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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. 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
                                      2. 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
                                      3. Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
                                      4. Karpman C et al: Pneumothorax and Bullae in Marfan Syndrome. Respiration. 82(3):219-24, 2011
                                      5. Elefteriades JA: Indications for aortic replacement. J Thorac Cardiovasc Surg. 140(6 Suppl):S5-9; discussion S45-51, 2010
                                      6. 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
                                      7. Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
                                      8. Suzuki T et al: Familial spontaneous pneumothorax in two adult siblings with marfan syndrome. Ann Thorac Cardiovasc Surg. 16(5):362-4, 2010
                                      9. 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
                                      10. 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
                                      11. Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
                                      12. 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. 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
                                                                          2. 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
                                                                          3. Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
                                                                          4. Karpman C et al: Pneumothorax and Bullae in Marfan Syndrome. Respiration. 82(3):219-24, 2011
                                                                          5. Elefteriades JA: Indications for aortic replacement. J Thorac Cardiovasc Surg. 140(6 Suppl):S5-9; discussion S45-51, 2010
                                                                          6. 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
                                                                          7. Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
                                                                          8. Suzuki T et al: Familial spontaneous pneumothorax in two adult siblings with marfan syndrome. Ann Thorac Cardiovasc Surg. 16(5):362-4, 2010
                                                                          9. 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
                                                                          10. 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
                                                                          11. Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
                                                                          12. 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