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Cardiolucent

Condition

Marfan Syndrome

Lifelong aortic surveillance and cardiovascular care for connective tissue disease.

Marfan syndrome is an inherited connective tissue disorder caused by mutations in the FBN1 gene, which encodes fibrillin-1. It affects multiple systems — the skeleton, eyes, lungs, and most importantly the cardiovascular system. The central cardiovascular concern is progressive dilation of the aortic root, which over time can lead to aortic dissection or rupture if not monitored and treated. Mitral valve prolapse, aortic regurgitation, and arrhythmias also occur. Modern management — combining serial imaging, blood pressure control, beta-blocker or ARB therapy, and preventive aortic surgery — has dramatically extended life expectancy for patients with Marfan syndrome. Dr. Kedan provides routine cardiology surveillance and coordinates with aortic surgery specialists at Cedars-Sinai when intervention is indicated.

What Cardiolucent Evaluates

  • Detailed family history and review of prior genetic testing
  • Echocardiography with aortic root measurements at each visit, plus POCUS
  • Periodic cross-sectional imaging (CT or MRI) of the entire aorta in coordination with Cedars-Sinai
  • Mitral valve assessment for prolapse and regurgitation
  • Aggressive blood pressure control with beta-blocker or ARB therapy
  • Activity and exercise counseling specific to Marfan syndrome
  • Coordination with aortic surgery for elective root replacement when criteria are met

Common Symptoms

  • Often no symptoms until aortic enlargement is advanced
  • Tall, slender build with long limbs and fingers; high-arched palate; chest wall deformity
  • Lens dislocation and other eye findings
  • Heart murmur from mitral valve prolapse or aortic regurgitation
  • Sudden severe chest, back, or abdominal pain may signal aortic dissection — an emergency
  • Palpitations or arrhythmias in some patients

Risk Factors

  • Family history of Marfan syndrome or aortic dissection
  • Confirmed FBN1 gene mutation
  • Characteristic physical features (skeletal, ocular, cardiovascular)
  • Higher risk for aortic events with uncontrolled blood pressure
  • Risk increases substantially with isometric or contact sports without modification
  • Pregnancy can accelerate aortic dilation and requires specialized planning

How Cardiolucent Approaches Treatment

Lifelong management centers on slowing aortic dilation and operating before the aorta is at high risk of dissection. Beta-blockers, often combined with angiotensin receptor blockers (ARBs), reduce aortic stress and slow growth. Blood pressure is kept lower than standard targets. Serial echocardiography tracks aortic root size at every visit, with periodic CT or MRI of the entire aorta. Elective aortic root replacement is recommended when the root reaches specific size thresholds or growth rates, coordinated with aortic surgery at Cedars-Sinai. Activity counseling — avoiding heavy isometric and contact sports — is part of every visit.

Common Questions

Frequently Asked Questions

What is Marfan syndrome?
Marfan syndrome is an inherited connective tissue disorder caused by mutations in the FBN1 gene, affecting the skeleton, eyes, and especially the cardiovascular system. The central concern is progressive aortic dilation.
How is it diagnosed?
Diagnosis is based on the revised Ghent criteria, which combine physical features, family history, genetic testing, and imaging findings (particularly aortic root dilation and lens dislocation). Genetic confirmation of an FBN1 mutation supports the diagnosis.
Why does the aorta matter so much in Marfan syndrome?
The aortic wall in Marfan syndrome is structurally abnormal and prone to gradual dilation, particularly at the root. As the aorta enlarges, the risk of dissection or rupture rises substantially. Slowing dilation and intervening before the aorta reaches a dangerous size are the cornerstones of management.
What medications am I likely to be on?
Most patients with Marfan syndrome are treated with a beta-blocker, often combined with an angiotensin receptor blocker (ARB), to reduce aortic wall stress and slow dilation. Blood pressure targets are tighter than for the general population.
What imaging do I need, and how often?
Echocardiography is performed at least annually — more often if the aorta is enlarging — to track the root size. Periodic CT or MRI of the entire aorta is used to assess segments beyond the root, since dilation and dissection can occur elsewhere. POCUS at every office visit allows interval reassessment.
When does the aorta need to be replaced?
Elective root replacement is generally recommended when the aortic root reaches specific size thresholds (often around 5.0 cm, sometimes earlier with family history of dissection or rapid growth), well before dissection risk becomes high. Modern valve-sparing root replacement preserves the native aortic valve when possible.
What activities should I avoid?
Heavy isometric activity (such as maximal weightlifting), contact sports, and competitive sports with sudden bursts of effort are generally discouraged because they spike aortic wall stress. Moderate aerobic activity is encouraged. Dr. Kedan provides specific guidance for your situation.
Can I have children?
Yes, but pregnancy planning is essential. Pregnancy increases aortic stress and risk of dissection, and a pre-conception aortic assessment is critical. Patients with significant aortic dilation may benefit from elective root replacement before pregnancy. Care during pregnancy is coordinated with maternal-fetal medicine.
Should my family members be screened?
Yes. Marfan syndrome is autosomal dominant, so first-degree relatives have a 50% chance of inheriting the gene. Genetic testing and cardiovascular screening are recommended for all first-degree relatives of a patient with confirmed Marfan syndrome.
How do I schedule a consultation?
Call (310) 304-5555 or use the contact form to schedule with Dr. Kedan at the Beverly Hills office. Cardiolucent does not bill Medicare or insurance; a detailed superbill is provided for any out-of-network reimbursement.

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Lifelong aortic surveillance for Marfan syndrome.

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Medical Disclaimer

The information on this site is for general educational purposes only and is not medical advice, diagnosis, or treatment. Reading this site does not create a doctor–patient relationship. Always consult a qualified healthcare professional for personal guidance. If this is an emergency, call 911. Mentions of medications, devices, or procedures are informational and not endorsements. Full medical disclaimer.

†Some listed indications involve investigational/off-label use. Learn more.