Marfan Syndrome: Causes, Symptoms and Treatment
Marfan syndrome is a genetic connective tissue disorder affecting the heart, eyes, and skeleton. Early diagnosis and treatment are essential to prevent serious complications.
Things worth knowing about "Marfan Syndrome"
Marfan syndrome is a genetic connective tissue disorder affecting the heart, eyes, and skeleton. Early diagnosis and treatment are essential to prevent serious complications.
What is Marfan Syndrome?
Marfan syndrome is an inherited disorder of the connective tissue that can affect multiple organ systems, most notably the cardiovascular system, the eyes, and the skeleton. It is caused by mutations in the FBN1 gene, which encodes the structural protein fibrillin-1, a key component of elastic fibers throughout the body. Marfan syndrome affects approximately 1 in 5,000 individuals worldwide and occurs equally in men and women across all ethnic groups.
Causes
Marfan syndrome follows an autosomal dominant inheritance pattern, meaning that a mutation in just one copy of the FBN1 gene is sufficient to cause the condition. Approximately 75% of cases are inherited from an affected parent, while around 25% result from a new (de novo) mutation with no family history of the condition.
- Mutation in the FBN1 gene located on chromosome 15
- Autosomal dominant inheritance
- Approximately 25% of cases arise from de novo mutations
Symptoms
Marfan syndrome is a multisystem disorder. Symptoms vary considerably depending on which organ systems are involved and to what degree.
Skeletal Features
- Tall stature with long, slender limbs
- Long, slender fingers and toes (arachnodactyly)
- Pectus excavatum (sunken chest) or pectus carinatum (pigeon chest)
- Scoliosis (sideways curvature of the spine)
- Hypermobile joints
- High, arched palate
Cardiovascular Features
- Enlargement of the aorta, particularly at the aortic root
- Aortic aneurysm and risk of aortic dissection (a life-threatening tear in the aortic wall)
- Mitral valve prolapse
Ocular Features
- Lens dislocation (ectopia lentis): displacement of the eye lens from its normal position
- Nearsightedness (myopia)
- Increased risk of retinal detachment and glaucoma
Pulmonary Features
- Increased risk of spontaneous pneumothorax (collapsed lung)
Diagnosis
The diagnosis of Marfan syndrome is based on the revised Ghent criteria (2010), which integrate clinical findings across multiple organ systems as well as genetic testing results.
- Physical examination (skeletal features, cardiovascular assessment, ocular examination)
- Echocardiography to evaluate the aorta and heart valves
- Slit-lamp eye examination
- Genetic testing for FBN1 mutations
- MRI or CT scan when aortic pathology is suspected
Treatment
There is currently no cure for Marfan syndrome. Treatment focuses on preventing or managing complications and improving quality of life.
Medical Treatment
- Beta-blockers (e.g., atenolol): reduce heart rate and blood pressure to protect the aorta from progressive dilation
- Angiotensin II receptor blockers (e.g., losartan): shown to slow aortic root enlargement
Surgical Treatment
- Aortic root replacement when aortic dilation reaches critical dimensions
- Valve-sparing surgical techniques
- Surgical correction of skeletal deformities such as scoliosis or pectus excavatum
Ophthalmological Treatment
- Corrective lenses for myopia
- Surgical intervention for lens dislocation or retinal detachment
Lifestyle and Follow-up
- Regular cardiac and ophthalmological monitoring
- Avoidance of contact sports and strenuous physical activity
- Genetic counseling for patients and their families
References
- Loeys BL et al. - The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 2010; 47(7): 476-485.
- Dietz HC - Marfan Syndrome. In: Adam MP et al. (eds.), GeneReviews, University of Washington, Seattle, 2022.
- National Marfan Foundation - Marfan Syndrome Overview. www.marfan.org (accessed 2024).
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