Marfansyndrom

Marfan syndrome, or Marfansyndrom in some languages, is a hereditary connective tissue disorder caused by autosomal dominant mutations in the FBN1 gene, which encodes the protein fibrillin-1. It affects multiple organ systems, especially the skeleton, eyes, and cardiovascular system, with variable expression even among family members.

People with the condition are often tall with long limbs and fingers (arachnodactyly), scoliosis, and chest wall deformities. Joint hypermobility is common. Eye problems frequently include lens dislocation (ectopia lentis) and myopia. Cardiovascular involvement can include dilation of the aortic root, aortic aneurysm, and mitral valve prolapse, with potential for aortic dissection.

Diagnosis uses Ghent criteria, which combine clinical features with family history. Genetic testing for FBN1 mutations can confirm the diagnosis and assist in testing relatives.

Management is multidisciplinary. Regular cardiovascular monitoring (echocardiography) and medications such as beta-blockers or angiotensin receptor blockers aim to slow aortic dilation. Activity modification is advised to reduce cardiovascular risk. Surgical repair or replacement of the aorta may become necessary. Eye problems may require correction or surgery, and genetic counseling is recommended.

Prevalence is about 1 in 5,000 people. With vigilance and treatment, prognosis has improved, though cardiovascular complications remain the major cause of morbidity. The condition is lifelong and requires ongoing medical care.