What are the clinical features of Marfan syndrome?

From the Guidelines

Marfan syndrome is a heritable disorder of the connective tissue characterized by a high penetrance but variable expression, with cardinal features involving the cardiovascular, ocular, and skeletal systems. The clinical features of Marfan syndrome include:

• Cardiovascular manifestations such as thoracic aortic aneurysm and/or dissection, valvular disease (primarily mitral valve prolapse and regurgitation), and aortic regurgitation 1
• Ocular manifestations including ectopia lentis (lens dislocation), which is a sensitive and fairly specific finding for Marfan syndrome 1
• Skeletal abnormalities such as arachnodactyly, dolichostenomelia, kyphoscoliosis, dolichocephaly, and pectus deformities, as well as joint laxity, recurrent or incisional hernias, striae atrophica, and dural ectasia 1
• Other features including a high predisposition to thoracic aortic aneurysm and/or dissection, with virtually every patient with the syndrome having evidence of aortic disease at some point during their lifetime 1 The diagnosis of Marfan syndrome is based primarily on clinical findings in the various organ systems affected, along with family history and FBN1 mutations status. It is essential to recognize these features early, as cardiovascular complications can be life-threatening if not monitored and managed appropriately 1.

From the Research

Clinical Features of Marfan Syndrome

The clinical features of Marfan syndrome (MFS) are diverse and affect multiple systems, including:

• Ocular features: ectopia lentis, flat cornea, myopia 2
• Cardiovascular features: aortic root dilatation, mitral valve prolapse, risk of dissection 3, 4, 5, 6
• Musculoskeletal features: excessive height, arachnodactyly, thoracic deformity with pectus, scoliosis, flat feet 3, 6
• Cutaneous features: cutaneous striae, particularly in the front of the shoulders 6
• Other features: dural ectasia 4, 6

Diagnosis and Management

Diagnosis of MFS is based on a combination of clinical features, genetic testing, and imaging studies 3, 4, 5, 2, 6. Management includes:

• Beta-blocker therapy to slow aortic root dilatation 5, 6
• Sport restriction 6
• Prophylactic aortic surgery when the maximal aortic diameter exceeds 50 mm 6
• Regular cardiac monitoring and elective surgical intervention to reduce the risk of life-threatening cardiovascular events 3