What specialist should a patient with suspected Marfan syndrome see first?

Specialist Referral for Suspected Marfan Syndrome

A patient with suspected Marfan syndrome should first see a cardiologist, as cardiovascular evaluation is the most critical initial step given that aortic dissection is the leading cause of death and requires immediate risk stratification. 1

Primary Specialist: Cardiologist

The cardiologist should be the first specialist consulted because:

• Cardiovascular complications are life-threatening and time-sensitive - aortic root dilatation and dissection represent the primary mortality risk in Marfan syndrome, making immediate cardiovascular assessment essential 1, 2
• Baseline imaging must be established urgently - an echocardiogram at diagnosis and 6 months later is necessary to establish baseline aortic dimensions and rate of enlargement 2
• Early surgical intervention can be life-saving - prophylactic aortic repair prevents dissection and rupture, and the timing of this intervention depends on initial cardiovascular findings 3

Essential Initial Cardiovascular Workup

The cardiologist should perform:

• Comprehensive echocardiography measuring the aortic annulus, sinuses of Valsalva, sinotubular junction, and distal ascending aorta, plus evaluation of left ventricular function, aortic valve, and mitral/tricuspid valve prolapse or insufficiency 3
• Complete aortic imaging with MRI or CT to visualize the entire aorta from root to abdomen 3, 2
• Initiation of medical therapy with beta-blockers or ARBs at maximum tolerated doses if aortic dilatation is present 3

Subsequent Multidisciplinary Referrals

After cardiovascular evaluation, the following specialists should be consulted:

Ophthalmologist (Second Priority)

• Dilated eye examination to evaluate for ectopia lentis is crucial for confirming the diagnosis, as this is a cardinal feature that differentiates Marfan syndrome from other connective tissue disorders 1, 2
• Ectopia lentis typically occurs by age 10 if it will develop 4

Medical Geneticist (Third Priority)

• Genetic testing for FBN1 mutations is identified in 90% of Marfan syndrome cases and confirms the diagnosis 3, 5
• Family history assessment and cascade genetic testing for first-degree relatives is essential given autosomal dominant inheritance 2
• Geneticists provide diagnostic classification using the revised Ghent criteria, which require major manifestations in two organ systems plus involvement of a third system 3

Orthopedic Surgeon (As Needed)

• Evaluation for skeletal manifestations including scoliosis (typically presents ages 8-15), pectus deformities, and joint hypermobility 4
• Annual physical examination for scoliosis until adult height is reached 1

Critical Pitfall to Avoid

Do not delay cardiovascular evaluation while pursuing genetic testing or other specialty consultations - the mean survival without treatment is only 40 years, with aortic dissection occurring unpredictably 3. Immediate cardiologist referral can identify patients requiring urgent surgical intervention (aortic diameter ≥5.0 cm or ≥4.5 cm with risk factors) 3, 2.

Ongoing Coordination

• A single coordinating physician (ideally the cardiologist initially, then potentially a geneticist or primary care physician familiar with Marfan syndrome) should oversee holistic care and manage the referral network 4
• The multidisciplinary team approach is essential because Marfan syndrome affects virtually every organ system and manifestations unfold progressively with age 6, 4