What is Marfan Syndrome?

Description of the disease

Marfan syndrome is a rare genetic disorder that affects the body's connective tissue. It most commonly affects the heart, eyes, blood vessels, and skeleton.

Classification

• Marfan syndrome type I
• Marfan syndrome type II
• Marfan syndrome type III

Symptoms

Symptoms of Marfan syndrome may include tall stature, long fingers, scoliosis, vision and hearing problems, as well as heart and vascular issues.

Causes

Marfan syndrome is caused by a mutation in the FBN1 gene, which encodes the protein fibrillin. This protein is necessary for the normal formation of connective tissue.

Diagnosis

Diagnosing Marfan syndrome involves a physical examination, genetic testing, echocardiography, and other tests.

Treatment

Treatment of Marfan syndrome aims to alleviate symptoms and prevent complications. This may include medication, surgical interventions, and regular medical monitoring.

Prevention

Prevention of Marfan syndrome includes genetic counseling when planning a pregnancy and regular examinations to detect and monitor symptoms.

Physician

Diagnosis and treatment of Marfan syndrome are carried out by geneticists, cardiologists, ophthalmologists, orthopedists, and other specialists, depending on the symptoms and complications.