Marfan Syndrome type V

Marfan Syndrome Type V is a variant of Marfan Syndrome, a genetic disorder that affects the body's connective tissue. Connective tissue holds all the body’s cells, organs, and tissue together. It also plays an important role in helping the body grow and develop properly. Marfan Syndrome, including its Type V variant, is caused by defects in a gene called FBN1, which encodes the protein fibrillin-1, essential for the formation of elastic fibers found in connective tissue.

Symptoms and Diagnosis

The symptoms of Marfan Syndrome Type V can vary widely among individuals. The condition primarily affects the heart, eyes, blood vessels, and skeleton. Common symptoms include a tall and slender build, disproportionately long arms, legs, fingers, and toes, a breastbone that protrudes outward or dips inward, a high-arched palate, and crowded teeth. Cardiovascular complications might include aortic dilation, which can lead to aortic dissection, a life-threatening condition. Eye problems may include lens dislocation, nearsightedness, and an increased risk of retinal detachment.

Diagnosis of Marfan Syndrome Type V involves a detailed medical history, physical examination, and various tests, including genetic testing to identify mutations in the FBN1 gene, echocardiograms to monitor the heart and aorta, and eye examinations to check for lens dislocation and other ocular issues.

Treatment

There is no cure for Marfan Syndrome Type V, but treatment focuses on managing symptoms and reducing the risk of complications. Regular monitoring of the cardiovascular system is crucial, and medications like beta-blockers may be prescribed to reduce stress on the aorta. In some cases, surgery may be necessary to repair or replace a damaged aorta. Orthopedic surgery might be required for skeletal deformities, and corrective lenses or surgery can address vision problems.

Genetics

Marfan Syndrome Type V is inherited in an autosomal dominant pattern, which means one copy of the altered FBN1 gene in each cell is sufficient to cause the disorder. There is a 50% chance of passing the mutated gene to offspring.

See Also

• Genetic Disorders
• Connective Tissue Diseases
• Cardiovascular Diseases
• Ophthalmology

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