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Marfan Syndrome
Claudio Silva, MD, MSc, MBA; Santiago Martínez-Jiménez, MD
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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

                                        1. Weinrich JM et al: Current and emerging imaging techniques in patients with genetic aortic syndromes. Rofo. 192(1):50-8, 2020
                                        2. 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
                                        3. Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
                                        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

                                                      • 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

                                                                              1. Weinrich JM et al: Current and emerging imaging techniques in patients with genetic aortic syndromes. Rofo. 192(1):50-8, 2020
                                                                              2. 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
                                                                              3. Dormand H et al: Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 15:33, 2013
                                                                              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