Marfan syndrome - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Marfan syndrome is an autosomal dominant inherited disorder of connective tissue characterized by loss of elastic tissue, resulting in musculoskeletal deformities, lens subluxation (dislocation), aortic dissection, and root aneurysms.
Multidisciplinary team of specialists confirm the diagnosis clinically and genetically using fibrillin-1 gene screen, and manage treatment options.
Dilation of the aorta may be progressive, but dilation may be delayed by beta-blockers or angiotensin-II receptor antagonists or in combination. The risk of aortic dissection or rupture increases with the size of the aortic dimension or with pregnancy.
Standard of elective surgical care for aortic dilation is modified David reimplantation operation with preservation of aortic valve leaflets and replacement of the aortic root. A second operation is becoming more widely available, namely PEARS extent operation, which bears the same 1% mortality risk when performed electively by an experienced surgeon.
Acute aortic dissection requires immediate surgical repair and has reduced long-term survival.

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From the collection of LG Svensson, E Mendrinos, C Pournaras

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Impact of aortic dissection on patient survival
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Citations

Key Articles

Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450.[Abstract]
Isselbacher EM, Preventza O, Black JH 3rd, 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 Dec 13;146(24):e334-482.[Abstract][Full Text]

Other Online Resources

Warfarin dosing

Referenced Articles

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