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Marfan Syndrome
Santiago Martínez-Jiménez, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Marfan syndrome (MFS): Congenital systemic 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

                                      Selected References

                                      1. Brownstein AJ et al: Genes associated with thoracic aortic aneurysm and dissection: 2018 update and clinical implications. Aorta (Stamford). 6(1):13-20, 2018
                                      2. Groner LK et al: Imaging of the postsurgical aorta in Marfan syndrome. Curr Treat Options Cardiovasc Med. 20(10):80, 2018
                                      3. von Kodolitsch Y et al: Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 8:137-55, 2015
                                      4. 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
                                      5. Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
                                      6. Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
                                      7. Boileau C et al: Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 20(3):194-200, 2005
                                      8. De Backer JF et al: Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol. 2005
                                      9. Judge DP et al: Marfan's syndrome. Lancet. 366(9501):1965-76, 2005
                                      10. Meijboom LJ et al: Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J. 26(9):914-20, 2005
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Definitions

                                                    • Marfan syndrome (MFS): Congenital systemic 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

                                                                          Selected References

                                                                          1. Brownstein AJ et al: Genes associated with thoracic aortic aneurysm and dissection: 2018 update and clinical implications. Aorta (Stamford). 6(1):13-20, 2018
                                                                          2. Groner LK et al: Imaging of the postsurgical aorta in Marfan syndrome. Curr Treat Options Cardiovasc Med. 20(10):80, 2018
                                                                          3. von Kodolitsch Y et al: Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 8:137-55, 2015
                                                                          4. 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
                                                                          5. Loeys BL et al: The revised Ghent nosology for the Marfan syndrome. J Med Genet. 47(7):476-85, 2010
                                                                          6. Ha HI et al: Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 27(4):989-1004, 2007
                                                                          7. Boileau C et al: Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 20(3):194-200, 2005
                                                                          8. De Backer JF et al: Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol. 2005
                                                                          9. Judge DP et al: Marfan's syndrome. Lancet. 366(9501):1965-76, 2005
                                                                          10. Meijboom LJ et al: Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J. 26(9):914-20, 2005