Published: 18 Jun 2025

ICD9: 759.82      ICD10: Q87.4      ICD11: LD28.0

Marfan syndrome is a genetic disorder that affects the body's connective tissue.
Connective tissue provides support and structure for many parts of the body, including:

Skeleton: Bones, joints
Eyes: Lens, retina
Heart and blood vessels: Aorta, valves

Marfan syndrome is caused by a defect in the gene that tells the body how to make fibrillin-1. Fibrillin-1 is a protein that is an essential building block of connective tissue.

Key features of Marfan syndrome:

Tall and slender build: People with Marfan syndrome are often taller and thinner than average, with long arms, legs, fingers, and toes.
Heart problems: The most serious complications involve the heart and aorta (the large artery that carries blood from the heart). The aorta can weaken and stretch, increasing the risk of dissection (tear in the aorta wall) or rupture. Mitral valve prolapse (MVP) is also common.
Eye problems: Dislocation of the lens of the eye (ectopia lentis) is characteristic. Other eye issues include nearsightedness (myopia), glaucoma, and cataracts.
Skeletal problems: These can include scoliosis (curvature of the spine), chest deformities (pectus excavatum or pectus carinatum), flat feet, and joint hypermobility.
Lung problems: Increased risk of spontaneous pneumothorax (collapsed lung).
Dural ectasia: Widening of the dural sac surrounding the spinal cord in the lower back.

Inheritance:

Marfan syndrome is usually inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is needed to cause the disorder. If one parent has Marfan syndrome, there is a 50% chance that each child will inherit it.
In some cases, Marfan syndrome can occur as a result of a new spontaneous mutation in the gene.

Diagnosis:

Diagnosis is based on a thorough physical examination, family history, and diagnostic tests.
The Ghent nosology is a set of criteria used to diagnose Marfan syndrome. It takes into account various features, including heart, eye, and skeletal findings.
Genetic testing can identify the fibrillin-1 gene mutation.

Treatment:

There is no cure for Marfan syndrome. Treatment focuses on managing the symptoms and preventing complications.
Regular monitoring of the heart, eyes, and skeleton is essential.
Medications to lower blood pressure can help reduce stress on the aorta.
Surgery may be needed to repair aortic aneurysms, correct scoliosis, or address other problems.
Eye exams are crucial for detecting and managing eye problems.

Prognosis:

With proper management, people with Marfan syndrome can live long and productive lives.
The prognosis depends on the severity of the condition and the presence of complications.
Early diagnosis and treatment are important for preventing serious complications.

Important Considerations:

Pregnancy: Women with Marfan syndrome require careful monitoring during pregnancy due to the increased risk of aortic dissection.
Exercise: People with Marfan syndrome should avoid strenuous activities that could put stress on the heart and aorta.

In summary: Marfan syndrome is a genetic disorder affecting connective tissue, leading to a range of symptoms primarily affecting the heart, eyes, and skeleton. Management focuses on preventing complications and improving quality of life through regular monitoring and appropriate medical interventions.