When should I refer a patient with suspected Marfan syndrome to a specialist for further evaluation?

Refer a patient with suspected Marfan syndrome to a specialist for further evaluation if they present with clinical features suggestive of the syndrome, such as characteristic skeletal, ocular, or cardiovascular signs, or a relevant family history. Specialist referral is particularly important for assessment of cardiovascular complications, including aortic root dilatation or valve disease, which require echocardiography and expert management.

Urgent referral should be considered if there are symptoms or signs indicating possible life-threatening cardiovascular involvement, such as aortic dissection or severe valve dysfunction.

Referral to a multidisciplinary specialist centre with expertise in genetic connective tissue disorders is recommended for comprehensive evaluation, diagnosis confirmation, and ongoing management.

While the provided guidelines do not explicitly detail Marfan syndrome referral criteria, the principles of referring patients with suspected inherited connective tissue disorders and associated cardiovascular risks align with recommendations for specialist assessment in related conditions such as familial hypercholesterolaemia and heart valve disease ¹,².