Marfan Syndrome

The Stony Brook Heart and Vascular Institute delivers comprehensive care for patients with Marfan syndrome and related hereditary connective tissue disorders. 

Our model is grounded in multidisciplinary collaboration and evidence-based management, with extensive experience in diagnosis, surveillance and intervention for aortic and extra-aortic manifestations.

Marfan Syndrome: Clinical Overview

Marfan syndrome is an autosomal dominant connective tissue disorder caused primarily by pathogenic variants in the FBN1 gene, which encodes the extracellular matrix protein fibrillin-1.

This defect leads to multisystem involvement, including:

  • aortic root dilation
  • aortic dissection
  • mitral valve prolapse
  • musculoskeletal overgrowth
  • ocular lens dislocation
  • increased risk of pneumothorax

Epidemiology and Patient Population

Marfan syndrome affects an estimated 1 in 5,000 individuals worldwide, with no gender or ethnic predilection. Approximately 75 percent of cases have an inherited germline mutation; de novo variants account for the remainder.

Clinical diagnosis can be challenging, particularly in patients with atypical features or overlapping hereditary aortopathies such as Loeys-Dietz or Ehlers-Danlos syndromes.

Early and accurate identification is crucial given the risk of life-threatening aortic pathology and potential need for prophylactic intervention.

Multidisciplinary Care

Management of Marfan syndrome requires longitudinal surveillance and individualized risk stratification. At Stony Brook, we offer integrated evaluation and treatment, including:

  • Comprehensive cardiovascular risk assessment (family history, genotype-phenotype correlation, imaging)
     
  • Serial echocardiography and advanced vascular imaging (CT/MR angiography) for aortic root and branch vessel surveillance
     
  • Medical therapy optimized to reduce aortic wall stress (beta-blockade, ARB therapy)
     
  • Timing of elective aortic root replacement based on diameter, growth rate and family history of dissection
     
  • Surveillance and management of mitral valve prolapse, arrhythmias and non-cardiovascular manifestations (orthopedics, ophthalmology, pulmonology)
     
  • Genetic counseling for patients and at-risk family members

Collaborative Surgical and Interventional Strategies

Complex aortic procedures require advanced expertise. Stony Brook offers a full spectrum of surgical and endovascular interventions for Marfan syndrome, including:

  • Valve-sparing aortic root replacement tailored to patient anatomy and disease progression
     
  • Composite graft replacement when valve-sparing is contraindicated
     
  • Open and endovascular techniques for descending thoracic and thoracoabdominal aortic disease when appropriate
     
  • Neuroprotective intraoperative strategies to minimize risk of spinal cord ischemia
     
  • Multidisciplinary perioperative management coordinated between cardiology, cardiothoracic surgery, vascular surgery, anesthesiology and intensive care
     
  • Postoperative surveillance for aneurysmal progression, pseudoaneurysm and graft complications

Integrated Care Across the Lifespan

Our center partners closely with subspecialties to manage the full spectrum of Marfan-related morbidity, including:

  • Orthopedic referral for scoliosis and pectus deformities
  • Ophthalmology for ectopia lentis and myopia
  • Pulmonology for restrictive lung disease and pneumothorax
  • Obstetric and reproductive counseling for women considering pregnancy

Continuous surveillance and risk modification are central to improving outcomes and quality of life. We emphasize patient education, shared decision-making, and access to clinical trials and novel therapies.

Referrals and Consultation

Stony Brook Heart and Vascular Institute welcomes referrals for diagnostic evaluation, management of complex aortic and valvular disease, and second-opinion consultations. We prioritize rapid access for patients with acute aortic pathology and offer ongoing support for families navigating the implications of hereditary connective tissue disorders.

If you have an aortic aneurysm, call the Aortic Center at (631) 638-1670.
If you need a cardiologist with expertise in aortopathy, call (631) 44-HEART (444-3278).

For more detailed information on referral protocols or to consult with our multidisciplinary team regarding Marfan syndrome, please contact us directly.

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