Conditions Associated With Marfan Syndrome

Marfan syndrome is a heritable connective tissue disorder caused by variants in the FBN1 gene. It primarily affects the cardiovascular, skeletal, and ocular systems, though its effects can extend to the skin, lungs, and spine as well. Below is a system-by-system overview of the conditions and complications most commonly associated with it.

Cardiovascular System

Aortic root dilation and dissection

• The most serious complication of Marfan syndrome. The aorta, the body's main artery, can gradually widen at its root near the heart. Surgery is generally considered once the aortic root reaches approximately 5 centimeters, as the risk of dissection (a tear in the artery wall) rises significantly beyond that point.

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Mitral valve prolapse

• A common finding in which the heart's mitral valve does not close properly. It is usually monitored rather than treated unless it becomes severe.

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Ocular System

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Ectopia lentis (lens dislocation)

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• Ahallmark feature of Marfan syndrome, occurring in a majority of affected individuals. The lens of the eye shifts out of its normal position, which can affect vision and is often one of the first clues leading to a diagnosis.

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Severe nearsightedness (myopia)

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• Common and often more pronounced than in the general population.

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Increased risk of retinal detachment and early cataracts or glaucoma

• regular ophthalmologic monitoring is recommended given these risks.

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Skeletal System

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Tall stature and long limbs

• often accompanied by long, slender fingers (arachnodactyly).

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Chest wall abnormalities

• pectus excavatum (a sunken chest) or pectus carinatum (a protruding chest) are common.

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Scoliosis

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• Curvature of the spine occurs frequently and can progress during periods of rapid growth.

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Joint laxity

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• Increased joint flexibility is common, though generally less pronounced than in hypermobile EDS.

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Craniofacial features

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• A long, narrow face and a highly arched, narrow palate are typical.

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Skin and Soft Tissue

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Stretch marks (striae)

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• Often appear unrelated to weight change, particularly across the shoulders and lower back, due to the skin's reduced elasticity.

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Dura and Spine

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Dural ectasia

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• a widening of the dural sac surrounding the spinal cord, most often in the lower back. This is a well-documented feature of Marfan syndrome and may cause lower back pain, though it is often identified incidentally on imaging.

Lungs

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Spontaneous pneumothorax

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• A collapsed lung occurring without injury. This is not common, but occurs more frequently than in the general population, often related to small air-filled blebs near the top of the lungs.

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A Final Note: Marfan syndrome is diagnosed using a combination of clinical findings (the Ghent criteria), family history, and genetic testing for FBN1 variants. Because the cardiovascular findings carry the greatest health risk, regular cardiac imaging, typically echocardiograms, is central to ongoing management regardless of which other features are present.

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