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Building Your Marfan Care Team

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Because Marfan syndrome is a multisystemic disorder, managing it requires a coordinated team of specialists including a cardiologist, geneticist, ophthalmologist, and orthopedist. Patients should seek providers experienced with connective tissue disorders to prevent complex complications.

Key Takeaways

  • • Managing Marfan syndrome requires a multidisciplinary care team led by a specialized cardiologist or medical geneticist.
  • • A specialized cardiologist is essential for monitoring heart valves and tracking aortic size using specific echocardiogram protocols.
  • • Ophthalmologists and orthopedists are critical for managing eye complications like lens dislocation and bone issues like scoliosis.
  • • When choosing a cardiothoracic surgeon, their experience and annual volume of Marfan-specific aortic root surgeries are vital for successful outcomes.
  • • Patients should keep a comprehensive medical folder including genetic reports, imaging scans, and family history to ensure coordinated care between specialists.

Because Marfan syndrome is a multisystemic disorder—meaning it can affect many different parts of the body at once—managing it requires more than just a single doctor [1]. You need a coordinated team of specialists who understand the unique challenges of connective tissue [2][3]. This team works together to monitor your health, prevent complications, and provide the best possible quality of life [4][5].

Your Core Specialists

A strong Marfan care team is typically led by a cardiologist or a geneticist and includes the following specialists:

  • Primary Care Provider (PCP) or Pediatrician: While specialists are crucial, a strong PCP is needed to manage your everyday health and ensure all your specialists are communicating with one another [4].
  • Cardiologist: The “heart of the team.” You need a cardiologist who specializes in aortopathy (diseases of the aorta) [6]. They will manage your medications and order regular echocardiograms to monitor your heart valves and aortic size [7][8].
  • Medical Geneticist: This specialist uses the Ghent criteria to confirm your diagnosis and coordinates genetic testing for you and your family [9][10]. They help you understand your specific FBN1 mutation and what it means for your future [11][12].
  • Ophthalmologist: An eye doctor who must be experienced in performing slit-lamp exams to check for ectopia lentis (lens dislocation) [13]. They also monitor for early-onset glaucoma, cataracts, and severe nearsightedness [14][15].
  • Orthopedist and Physical Therapist: A bone and joint specialist who monitors for scoliosis (spine curvature) and pectus deformities (chest shape) [2][16]. Additionally, a physical therapist who understands joint hypermobility can help you manage day-to-day aches and physical limitations [16].
  • Cardiothoracic Surgeon: Even if you do not need surgery now, it is wise to establish a relationship with a surgeon who specializes in aortic root replacements [17][18].

Vetting Your Doctors

Not every specialist has experience with Marfan syndrome. When building your team, do not be afraid to ask direct questions to evaluate their expertise:

  • For the Surgeon: “How many valve-sparing aortic root replacements (David procedures) do you perform annually?” [19][20]. Experience and volume are the biggest predictors of a successful outcome [21][22].
  • For the Cardiologist: “What imaging protocol do you use to measure the aorta, and do you use Z-scores adjusted for my body size?” [3][23].
  • For the Center: “Does this facility have a multidisciplinary clinic where these specialists communicate directly with each other?” [12][24].

The “Marfan Briefcase”: What to Bring

To your first appointment with any new specialist, you should bring a comprehensive folder of your medical history. This ensures that every member of your team has the same information:

  1. Genetic Reports: A copy of the actual laboratory results for your FBN1 mutation [12].
  2. Imaging Scans: Both the written reports and the actual images (often on a CD or digital portal) for any echocardiograms, CTs, or MRIs [25][26].
  3. Surgical Records: If you have had any previous heart, eye, or bone surgeries, bring the operative reports.
  4. Family History: A detailed list of any relatives diagnosed with Marfan syndrome or anyone who had an aortic dissection or sudden cardiac death at a young age [27].
  5. Current Medication List: Including the exact dosages of any beta-blockers or ARBs you are taking [6].

By taking an active role in choosing and informing your team, you become the most important member of your own care [4].

Frequently Asked Questions

What doctors should be on my Marfan syndrome care team?
A complete Marfan care team is usually led by a cardiologist or medical geneticist. It should also include a primary care provider, an ophthalmologist, an orthopedist, and potentially a cardiothoracic surgeon to monitor and manage the condition across different body systems.
Why do I need a specialized cardiologist for Marfan syndrome?
Marfan syndrome frequently affects the aorta and heart valves. A specialized cardiologist monitors your heart using specific echocardiogram protocols and Z-scores to track aortic size, helping to prevent life-threatening complications.
What questions should I ask a surgeon about Marfan syndrome?
When consulting a cardiothoracic surgeon, ask how many Marfan-specific aortic root surgeries, such as the valve-sparing David procedure, they perform each year. High surgical volume and specific experience with connective tissue disorders are key predictors of a successful outcome.
How should I prepare for my first appointment with a Marfan specialist?
Create a comprehensive medical folder containing your FBN1 mutation genetic test results, imaging scans, surgical records, family history, and current medications. Bringing this information ensures your entire care team stays coordinated and informed.
Why do I need an ophthalmologist if I have Marfan syndrome?
Marfan syndrome can cause specific eye issues, such as lens dislocation, early-onset glaucoma, and severe nearsightedness. An experienced ophthalmologist will perform regular slit-lamp exams to detect and manage these complications early.

Questions for Your Doctor

  • • Does this hospital have a dedicated Marfan syndrome or connective tissue clinic?
  • • How often will my care be reviewed by the entire multidisciplinary team?
  • • Who is the primary 'quarterback' or coordinator of my care team?
  • • How many Marfan-specific aortic root surgeries do you perform each year?
  • • Do you have a specialized imaging protocol for measuring the aorta in Marfan patients?

Questions for You

  • • Which of my symptoms (heart, eyes, or bones) is currently causing me the most concern?
  • • Do I feel like my current doctors are listening to my concerns about Marfan syndrome?
  • • Have I gathered all my previous scans and genetic reports into one place?
  • • Is there a 'Center of Excellence' for Marfan syndrome within a reasonable traveling distance from me?

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References

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  2. 2

    Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.

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    Journal of family medicine and primary care 2025; (14(9)):4073-4075 doi:10.4103/jfmpc.jfmpc_329_25.

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    MRI-Derived Dural Sac and Lumbar Vertebrae 3D Volumetry Has Potential for Detection of Marfan Syndrome.

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    Life-Threatening Aortic Dissection during Pregnancy: A Case Report of Undiagnosed FBN1-Related Marfan Syndrome at 39 Weeks Gestation.

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    A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.

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    Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

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    PMID: 27234404
  12. 12

    Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

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    Clinica chimica acta; international journal of clinical chemistry 2020; (501()):154-164 doi:10.1016/j.cca.2019.10.037.

    PMID: 31730815
  13. 13

    Diverse presentations of ectopia lentis and lens coloboma in Marfan's syndrome.

    Dhiman R, Kaur L, Sharma N, Pandey ML

    Oman journal of ophthalmology 2023; (16(2)):310-313 doi:10.4103/ojo.ojo_108_22.

    PMID: 37602182
  14. 14

    A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.

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    BMC medical genomics 2023; (16(1)):118 doi:10.1186/s12920-023-01551-6.

    PMID: 37245000
  15. 15

    Marfan Syndrome.

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  16. 16

    The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study.

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    Orphanet journal of rare diseases 2025; (20(1)):118 doi:10.1186/s13023-025-03628-0.

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  17. 17

    Surgical options for aortic root aneurysm disease: which procedure, which patient.

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  18. 18

    Case Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome.

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  19. 19

    Current trends in minimally invasive valve-sparing aortic root replacement-Best available evidence.

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  20. 20

    Florida Sleeve Technique for an Aortic Root Aneurysm in a Marfan Syndrome Patient.

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  21. 21

    Twenty-year experience of aortic valve reimplantation using the Valsalva graft.

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  22. 22

    Valve-sparing aortic root replacement using a straight tube graft (David I procedure).

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  23. 23

    Marfan syndrome revisited: From genetics to the clinic.

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  24. 24

    Marfan Syndrome beyond Aortic Root-Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications.

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  25. 25

    Dural ectasia and intracranial hypotension in Marfan syndrome.

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  26. 26

    The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.

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  27. 27

    Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.

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This page provides educational information on organizing care for Marfan syndrome. Always consult your primary care provider or geneticist for personalized medical advice and specific specialist referrals.

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