马凡综合征 (Marfan syndrome)病

Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, muscles, organs, and tissues in your body

Clinical Presentation

Skeletal abnormalities

• Marfanoid habitus- tall and thin stature, long extremities, arm span exceeds height.
• Arachnodactyly- long fingers and toes
• Hypermobile joints
• Flat feet
• Pectus carinatum or excavatum
• Scoliosis

Cardiac Abnormality

• Mitral valve prolapse and regurgitation.
• Aortic Dilation, Dissection and Rupture due to Cystic medial necrosis. Aortic rupture is the most common cause of death.

Ocular abnormality

• Bilateral dislocation, or subluxation, of the lens secondary to weakness of its suspensory ligaments.
• Ectopia lentis, particularly if bilateral, is highly specific for Marfan syndrome.

Diagnosis

• Based on clinical presentation and typical marfanoid habitus.
• Genetic testing is confirmatory.
• Transthoracic echocardiography- mitral valve prolapse and aortic dilation is noticed.

Treatment

• There is no cure for Marfan syndrome, but treatment is targeted to prevent cardiac disease progression and reducing complications.
• β-blockers or angiotensin receptor blockers reduces blood pressure and thus they slow down aortic dilation.
• Patient should avoid high-impact contact sports, strenuous exercise and excessive stress.
• Aortic aneurysm repair should be performed to prevent catastrophic rupture.