Guideline sources The following summarized guidelines for the evaluation and management of marfan syndrome (MS) are prepared by our editorial team based on guidelines from the American Heart Association (AHA/ACC 2022), the European Society of Cardiology (ESC/EACTS 2021), the European Society of Cardiology (ESC 2021; 2014), the American Association for Thoracic Surgery (AATS 2021), the Canadian Cardiovascular Society (CCS/CHRS 2019), the European Society for Vascular Surgery (ESVS 2017), the Canadian Cardiovascular Society (CCS 2014), and the Society for Cardiovascular Angiography and Interventions (SCAI/STS/SVM/AATS/SCA/AHA/ACR/ACC/ASA/SIR 2010). 1 2 3 4 5 6 7 8 9 Calculator Calculator Revised Ghent criteria for diagn Scoring of systemic features of Guidelines https://web.pathway.md/diseases/recKmakMTgQwU6AED 1/6 6/30/23, 1:00 AM Marfan syndrome Pathway 1. Diagnostic investigations Aortic imaging: As per ACC 2022 guidelines: Obtain a TTE at the time of initial diagnosis to determine the diameters of the aortic root and ascending aorta, and 6 months thereafter to determine the rate of aortic growth in patients with MS. Obtain an annual surveillance TTE if the aortic diameters are stable. Obtain CT or MRI of the thoracic aorta if the aortic root, ascending aorta, or both, are not adequately visualized on TTE. B Consider obtaining CT or MRI of the thoracic aorta to confirm the aortic diameters and assess the remainder of the thoracic aorta after an initial TTE in adult patients with MS. C As per ESVS 2017 guidelines, consider obtaining a TTE measurement of the aortic root for the diagnosis and follow-up of aortic involvement in patients with MS. C As per AHA 2010 guidelines, obtain echocardiography at the time of diagnosis of MS to determine the aortic root and ascending aortic diameter, and 6 months thereafter to determine the rate of enlargement of the aorta. B 2. Medical management Antihypertensive medications: As per ACC 2022 guidelines: Initiate either -blockers or ARBs in maximally tolerated doses (unless contraindicated) to reduce the rate of aortic dilation in patients with MS. A Consider initiating both a -blocker and an ARB in maximally tolerated doses (unless contraindicated) to reduce the rate of aortic dilation in patients with MS. C As per ESVS 2017 guidelines, consider initiating prophylactic -blockers and ARBs in patients with MS. C As per CCS 2014 guidelines, initiate -blockers or ARBs to reduce the rate of aortic dilation in patients with MS. Consider initiating additional therapy (ACEI, ARB, or -blocker), if tolerated, to reduce the rate of aortic dilation in patients with MS. B As per AHA 2010 guidelines: Initiate -blockers to reduce the rate of aortic dilatation in all patients with MS and aortic aneurysm, unless contraindicated. B Consider initiating an ARB (losartan) to reduce the rate of aortic dilatation in patients with MS, unless contraindicated. C 3. Nonpharmacologic interventions Physical activity restrictions: consider advising sports restriction in patients with MS with aortic dilatation. B https://web.pathway.md/diseases/recKmakMTgQwU6AED 2/6 6/30/23, 1:00 AM Marfan syndrome Pathway 4. Surgical interventions Aortic aneurysm repair: As per ACC 2022 guidelines, perform open repair over endovascular repair in patients with MS and intact thoracoAAA requiring intervention. B As per EACTS 2021 guidelines: Perform ascending aortic surgery in patients with MS with aortic root disease with a maximal ascending aortic diameter 5.0 cm. B Consider performing ascending aortic surgery in patients with aortic root disease with maximal ascending aortic diameter 4.5 cm in patients with MS. C As per ESC 2014 guidelines: Perform surgery in patients with aortic root aneurysm with maximal aortic diameter 5.0 cm in patients with MS. B Consider performing surgery in patients with maximal ascending aortic diameter 4.5 cm in patients with risk factors B Consider setting lower thresholds for intervention according to BSA in patients of small stature or in the case of rapid progression, aortic valve regurgitation, planned pregnancy, and patient preference. B Prefer open surgery over TEVAR when intervention is indicated in patients with MS. B Aortic aneurysm repair (ECS): Perform surgery in patients with MS with aortic root disease with a maximal aortic sinus diameter 5.0 cm. B Consider performing surgery in patients with MS with aortic root disease with maximal aortic sinus diameter 4.5 cm and additional risk factors. C Aortic root replacement: as per ACC 2022 guidelines, perform surgery to replace the aortic root and ascending aorta in patients with MS with an aortic root diameter 5.0 cm. B Show 6 more Aortic dissection repair: consider performing surgical repair if the maximal cross-sectional area (cm ) of the ascending aorta or root divided by the patient's height in meters is > 10, because shorter patients have dissection at a smaller size and 15% of patients with MS have dissection at a size < 5.0 cm. C Aortic valve repair: perform aortic valve repair by experienced surgeons, using the reimplantation or remodeling with aortic annuloplasty technique, in young patients with MS with aortic root dilation and tricuspid aortic valves. B 5. Specific circumstances Patients contemplating pregnancy: As per ACC 2022 guidelines, perform aortic surgery before pregnancy in patients with MS and an aortic root diameter > 4.5 cm. B Consider performing aortic surgery before pregnancy if the aortic root diameter is 4.0-4.5 cm, especially if there are risk factors for aortic dissection, such as rapid aortic growth of 0.3 cm/year or a family history of aortic dissection. B https://web.pathway.md/diseases/recKmakMTgQwU6AED 3/6 6/30/23, 1:00 AM Marfan syndrome Pathway As per AHA 2010 guidelines, consider performing prophylactic replacement of the aortic root and ascending aorta in patients with MS contemplating pregnancy if the aortic diameter is > 4.0 cm. C 6. Patient education Pregnancy counseling: As per ACC 2022 guidelines, provide genetic counseling before pregnancy to discuss the heritable nature of their condition in patients with MS contemplating pregnancy. B As per AHA 2010 guidelines, provide preconceptional counseling to women with MS and aortic dilatation, as well as to patients without MS who have known aortic disease, about the risk of aortic dissection as well as the heritable nature of the disease. B Clinical findings Symptoms Past medical history Chest discomfort Mitral valve prolapse Chest pain Spontaneous pneumothorax Headache Thoracic aortic aneurysm Leg pain Thoracic aortic dissection Low back pain Anthropomorphic exam Palpitations Shortness of breath Tall stature Family history Head and neck exam Intracranial aneurysm Dolichocephaly Marfan syndrome Malar hypoplasia Micrognathia Ocular exam Retrognathia Corneal flattening Cardiac exam Ectopia lentis Enophthalmos AR murmur Myopia MR murmur Dental exam Integument exam Crowded teeth Skin hyperlaxity High-arched palate Skin striae Musculoskeletal exam Imaging findings Acetabular protrusion Dural ectasia https://web.pathway.md/diseases/recKmakMTgQwU6AED 4/6 6/30/23, 1:00 AM Marfan syndrome Pathway Arachnodactyly Disproportionately long arms Hindfoot deformity Joint hypermobility Pectus carinatum Pectus excavatum Pes planus Scoliosis Steinberg's sign Walker-murdoch sign ECG findings Prolonged QT interval Ventricular arrhythmia Genetic testing Fb 1 t ti References 1. Munir Boodhwani, Gregor Andelfinger, Jonathon Leipsic et al. Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. Can J Cardiol. 2014 Jun;30 6 577 89. Open 2. Alec Vahanian, Friedhelm Beyersdorf, Fabien Praz et al. 2021 ESC/EACTS Guidelines for the management of valvular heart disease: Developed by the Task Force for the management of valvular heart disease of the European Society of Cardiology ESC and the European Association for Cardio-Thoracic Surgery EACTS . Eur Heart J. 2021;ehab395. Open 3. Hiratzka LF, Bakris GL, Beckman JA 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. 2010 Apr 6;121 13):e266 369. Open 4. Helmut Baumgartner, Julie De Backer, Sonya V Babu-Narayan et al. 2020 ESC Guidelines for the management of adult congenital heart disease. Eur Heart J. 2021 Feb 11;42 6 563 645. Open 5. Eric M Isselbacher, Ourania Preventza, James Hamilton Black rd et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Nov 2. Open 6. S Christopher Malaisrie, Wilson Y Szeto, Monika Halas et al. 2021 The American Association for Thoracic Surgery expert consensus document: Surgical treatment of acute type A aortic dissection. J Thorac Cardiovasc Surg. 2021 Sep;162 3 735 758.e2. Open https://web.pathway.md/diseases/recKmakMTgQwU6AED 5/6 6/30/23, 1:00 AM Marfan syndrome Pathway 7. Erbel R, Aboyans V, Boileau C et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology ESC . Eur Heart J. 2014 Nov 1;35 41 2873 926. Open 8. V Riambau, D B ckler, J Brunkwall et al. Editor's Choice Management of Descending Thoracic Aorta Diseases: Clinical Practice Guidelines of the European Society for Vascular Surgery ESVS . Eur J Vasc Endovasc Surg. 2017 Jan;53 1 4 52. Open 9. Amer M Johri, Paul Poirier, Paul Dorian et al. Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Statement on the Cardiovascular Screening of Competitive Athletes. Can J Cardiol. 2019 Jan;35 1 1 11. Open 10. Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47 7 476 85. Open 11. Hsin-Hui Chiu, Mei-Hwan Wu, Hui-Chi Chen et al. Epidemiological profile of Marfan syndrome in a general population: a national database study. Mayo Clin Proc. 2014 Jan;89 1 34 42. Open 12. Daniel P Judge, Harry C Dietz. Marfan's syndrome. Lancet. 2005 Dec 3;366 9501 1965 76. Open https://web.pathway.md/diseases/recKmakMTgQwU6AED 6/6