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Loeys-Dietz Syndrome
Randy R. Richardson, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Autosomal dominant connective tissue disorder with aortic/arterial abnormalities

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Echocardiographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          CLINICAL ISSUES

                          • Presentation

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Iqbal R et al: Loeys-Dietz syndrome pathology and aspects of cardiovascular management: a systematic review. Vascular. 29(1):3-14, 2021
                                2. Estrera AL: Loeys-Dietz syndrome: we have come a (Fur)long way. J Thorac Cardiovasc Surg. 157(2):453-54, 2019
                                3. Jud P et al: Vascular involvement in Loeys-Dietz syndrome. Mayo Clin Proc. 94(6):1117-9, 2019
                                4. Loughborough WW et al: Cardiovascular manifestations and complications of Loeys-Dietz syndrome: CT and MR imaging findings. Radiographics. 38(1):275-86, 2018
                                5. Gawinecka J et al: Acute aortic dissection: pathogenesis, risk factors and diagnosis. Swiss Med Wkly. 147:w14489, 2017
                                6. Meester JAN et al: Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg. 6(6):582-94, 2017
                                7. Hanneman K et al: Pre- and postoperative imaging of the aortic root. Radiographics. 36(1):19-37, 2016
                                8. Agrawal A et al: Spontaneous coronary artery dissection in Loeys-Dietz syndrome: role of optical coherence tomography in diagnosis and management. J Invasive Cardiol. 27(9):E196-8, 2015
                                9. Beckmann E et al: Surgical experience in a patient with Loeys-Dietz syndrome type I. Ann Thorac Surg. 97(5):e125-7, 2014
                                10. 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
                                11. Morgan GJ et al: Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. Congenit Heart Dis. 8(6):E192-5, 2013
                                12. Dhouib A et al: Imaging findings in a child with Loeys-Dietz syndrome. Circulation. 126(4):507-8, 2012
                                13. Hughes GC: Aggressive aortic replacement for Loeys-Dietz syndrome. Tex Heart Inst J. 38(6):663-6, 2011
                                14. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 1993-2021, 2008
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Definitions

                                          • Autosomal dominant connective tissue disorder with aortic/arterial abnormalities

                                        IMAGING

                                        • General Features

                                          • CT Findings

                                            • MR Findings

                                              • Echocardiographic Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Staging, Grading, & Classification

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Iqbal R et al: Loeys-Dietz syndrome pathology and aspects of cardiovascular management: a systematic review. Vascular. 29(1):3-14, 2021
                                                              2. Estrera AL: Loeys-Dietz syndrome: we have come a (Fur)long way. J Thorac Cardiovasc Surg. 157(2):453-54, 2019
                                                              3. Jud P et al: Vascular involvement in Loeys-Dietz syndrome. Mayo Clin Proc. 94(6):1117-9, 2019
                                                              4. Loughborough WW et al: Cardiovascular manifestations and complications of Loeys-Dietz syndrome: CT and MR imaging findings. Radiographics. 38(1):275-86, 2018
                                                              5. Gawinecka J et al: Acute aortic dissection: pathogenesis, risk factors and diagnosis. Swiss Med Wkly. 147:w14489, 2017
                                                              6. Meester JAN et al: Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg. 6(6):582-94, 2017
                                                              7. Hanneman K et al: Pre- and postoperative imaging of the aortic root. Radiographics. 36(1):19-37, 2016
                                                              8. Agrawal A et al: Spontaneous coronary artery dissection in Loeys-Dietz syndrome: role of optical coherence tomography in diagnosis and management. J Invasive Cardiol. 27(9):E196-8, 2015
                                                              9. Beckmann E et al: Surgical experience in a patient with Loeys-Dietz syndrome type I. Ann Thorac Surg. 97(5):e125-7, 2014
                                                              10. 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
                                                              11. Morgan GJ et al: Imaging and percutaneous occlusion of a large aneurysm of the ductus arteriosus in an infant with Loeys-Dietz syndrome. Congenit Heart Dis. 8(6):E192-5, 2013
                                                              12. Dhouib A et al: Imaging findings in a child with Loeys-Dietz syndrome. Circulation. 126(4):507-8, 2012
                                                              13. Hughes GC: Aggressive aortic replacement for Loeys-Dietz syndrome. Tex Heart Inst J. 38(6):663-6, 2011
                                                              14. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 1993-2021, 2008