Genetic and metabolic medicine
Marfan syndrome
FBN1 aortopathy, the revised Ghent criteria and systemic score, the look-alikes that change management, root surveillance, ARB and beta-blocker therapy, surgical thresholds and pregnancy.
Tier 1Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Autosomal dominant disorder of fibrillin-1 (FBN1), about 1 in 3,000 to 5,000 people. It affects the aorta, eye and skeleton.
- Death comes from aortic root dissection or rupture. Surveillance, medical therapy and timely root replacement have pushed life expectancy from the 30s in the 1970s to near normal.
- Diagnosis uses the revised Ghent nosology (2010): aortic root dilatation and ectopia lentis are the cardinal features.
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Sources
- Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-485Journal of Medical Genetics, 2010
- 2024 ESC Guidelines for the management of peripheral arterial and aortic diseasesEuropean Society of Cardiology (European Heart Journal, doi:10.1093/eurheartj/ehae179), 2024
- 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic DiseaseAmerican College of Cardiology and American Heart Association (Circulation), 2022
- 2025 ESC Guidelines for the management of cardiovascular disease and pregnancyEuropean Society of Cardiology (European Heart Journal, doi:10.1093/eurheartj/ehaf193), 2025
- Marfan Treatment Trialists' Collaboration. Angiotensin receptor blockers and beta blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Lancet 2022;400:822-831The Lancet, 2022
- Jayaratne N et al. Exercise recommendations for patients with Marfan syndrome: an updated review. Eur J Prev Cardiol 2026European Journal of Preventive Cardiology, 2026
- Therapeutic Guidelines - CardiovascularAU/NZTherapeutic Guidelines Limited, 2023
- Marfan syndromeAU/NZhealthdirect Australia
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Turnstile bot check on sign-in and signed-out feedback