Marfan syndrome

Marfan wrist

Marfan thumb sign

Human_ hromosome 15 from NCBI Bookshelf

Marfan Chest

Marfan Patient

Steinberg and_Walker-Murdoch tests

MARFAN ECLIPSE

Marfan syndrome (MFS) is a genetic disorder affecting the body's connective tissue, leading to a variety of symptoms and physical characteristics. Individuals with Marfan syndrome often exhibit a tall and thin physique, elongated arms, legs, fingers, and toes, flexible joints, and scoliosis. The severity and range of symptoms can vary significantly among affected individuals.

Signs and Symptoms

Marfan syndrome affects multiple systems within the body, including the skeletal, ocular, cardiovascular, pulmonary, and nervous systems.

Skeletal System

• Elongation of the arms and legs
• Flexible joints
• Scoliosis and other spinal deformities
• Chest deformities, such as pectus excavatum (sunken chest) or pectus carinatum (pigeon chest)

Eyes

• Lens dislocation (Ectopia lentis)
• Myopia (short-sightedness)
• Increased risk of retinal detachment

Cardiovascular System

• Mitral valve prolapse
• Aortic aneurysm and dissection
• Risk of sudden cardiac arrest

Lungs

• Increased susceptibility to spontaneous pneumothorax (collapsed lung)
• Sleep apnea

Nervous System

• Dural ectasia, the weakening and expansion of the dural sac surrounding the spinal cord

Genetics

Marfan syndrome is primarily caused by mutations in the FBN1 gene, which encodes the fibrillin-1 protein. This protein plays a critical role in the structure and function of connective tissue. Marfan syndrome is an autosomal dominant disorder, meaning a mutation in just one of the two copies of the FBN1 gene is sufficient to cause the disorder. Approximately 75% of cases are inherited from an affected parent, while 25% result from new mutations.

Pathogenesis

The mutations in the FBN1 gene lead to the production of abnormal fibrillin-1, disrupting the microfibrils that support and stabilize connective tissues. This disruption affects the strength and elasticity of tissues, contributing to the symptoms of Marfan syndrome.

Marfanoid–progeroid–lipodystrophy syndrome

This is a related condition that shares some features with Marfan syndrome but also includes symptoms of progeroid and lipodystrophy syndromes.

Diagnosis

Diagnosis of Marfan syndrome is often based on the Ghent criteria, which consider family history, genetic testing, and the presence of specific clinical features in various body systems.

Revised Ghent Nosology

The Revised Ghent Nosology provides a framework for diagnosing Marfan syndrome based on a combination of major and minor criteria spanning various organ systems.

Differential Diagnosis

It is crucial to differentiate Marfan syndrome from other disorders with similar features, such as Loeys-Dietz syndrome and Ehlers-Danlos syndrome.

Management

While there is no cure for Marfan syndrome, management focuses on monitoring and treating symptoms to improve quality of life and prevent complications.

Physical Activity

Strenuous exercise is generally discouraged, though specific recommendations may vary based on individual risk factors.

Medication

• Beta blockers like propranolol or atenolol are commonly prescribed.
• Calcium channel blockers or ACE inhibitors may be alternatives.

Surgery

Surgical interventions may be necessary to repair aortic aneurysms or replace heart valves.

Pregnancy

Women with Marfan syndrome face increased risks during pregnancy and require close monitoring.

Prognosis

With appropriate management, many individuals with Marfan syndrome have a normal life expectancy. Ongoing research continues to improve treatment options and outcomes.

Epidemiology

Marfan syndrome affects about 1 in 5,000 to 10,000 people worldwide and occurs equally among males and females across different races and regions.

History

The syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896.

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