Marfan Syndrome Overview and Management Options
Get a comprehensive overview of Marfan Syndrome. Learn about its symptoms, diagnosis, and the latest management and treatment options to improve quality of life.
Written by Dr. Rohinipriyanka Pondugula
Reviewed by Dr. D Bhanu Prakash MBBS, AFIH, Advanced certificate in critical care medicine, Fellowship in critical care medicine
Last updated on 22nd Aug, 2025
Marfan Syndrome is a genetic disorder that affects the body’s connective tissues, which provide strength and flexibility to structures like bones, blood vessels, and the heart. While it is a lifelong condition, proper management can help individuals lead healthy and active lives.
In this article, we’ll discuss what Marfan Syndrome is, its symptoms, causes, and how it can be managed effectively.
What is Marfan Syndrome?
Marfan Syndrome is caused by a defect in the gene that produces fibrillin-1, a protein essential for connective tissue strength. This defect leads to abnormalities in the heart, blood vessels, eyes, bones, and other parts of the body.
People with Marfan Syndrome are often tall and thin with long limbs, fingers, and toes. However, the condition affects more than just appearance—it can lead to serious health complications if not managed properly.
Symptoms of Marfan Syndrome
Symptoms vary from person to person, but common signs include:
1. Physical Features
Tall and slender build
Long arms, legs, fingers, and toes (arachnodactyly)
A chest that sinks in (pectus excavatum) or sticks out (pectus carinatum)
Curved spine (scoliosis)
Flat feet
Stretch marks not related to weight changes
2. Heart and Blood Vessel Issues
Enlarged aorta (the main artery carrying blood from the heart)
Aortic aneurysm (bulging or weakening of the aorta)
Heart valve problems (mitral valve prolapse)
3. Eye Problems
Dislocated lens (ectopia lentis)
Severe nearsightedness (myopia)
Increased risk of retinal detachment or glaucoma
4. Other Symptoms
Fatigue
Breathing difficulties
Joint pain or hypermobility (flexible joints)
If you or a loved one has these symptoms, consulting a doctor is essential for proper diagnosis and treatment.
Consult a Top Geneticists for the best advice
Causes of Marfan Syndrome
Marfan Syndrome is inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the condition if one parent has it. However, in some cases, it occurs due to a spontaneous gene mutation with no family history.
How is Marfan Syndrome Diagnosed?
Diagnosis involves:
Physical examination (checking for physical traits)
Genetic testing (to confirm the FBN1 gene mutation)
Imaging tests (echocardiogram, MRI, or CT scan to check the heart and aorta)
Eye examination (to detect lens dislocation or other issues)
Early diagnosis is crucial to prevent complications like aortic dissection (a life-threatening tear in the aorta).
Management and Treatment Options
While there is no cure for Marfan Syndrome, proper management can significantly improve quality of life and reduce risks.
1. Medical Treatments
Betablockers or ARBs – Help slow aortic enlargement and reduce blood pressure.
Surgery – May be needed to repair an enlarged aorta or replace faulty heart valves.
Regular monitoring – Frequent heart and eye checkups are essential.
2. Lifestyle Adjustments
Avoid strenuous activities – High intensity sports (weightlifting, contact sports) can strain the heart. Opt for low-impact exercises like swimming or walking.
Healthy diet – Focus on heart healthy foods (fruits, vegetables, whole grains) and limit salt to manage blood pressure.
Quit smoking – Smoking increases the risk of aortic complications.
Maintain a healthy weight – Excess weight puts extra stress on the heart and joints.
3. Emotional and Social Support
Living with a chronic condition can be challenging. Support groups, counseling, and connecting with others who have Marfan Syndrome can help manage stress and anxiety.
When to See a Doctor?
If you or your child shows signs of Marfan Syndrome, consult a specialist, especially if there’s a family history. Early intervention can prevent severe complications.
Book a Consultation with Apollo 24|7
If you suspect Marfan Syndrome or need expert advice, Apollo 24|7 offers consultations with geneticists, cardiologists, and specialists who can guide you through diagnosis and treatment.
Call us or book an appointment online for personalized care.
Final Thoughts
Marfan Syndrome is a manageable condition with the right medical care and lifestyle adjustments. Regular checkups, a heart-healthy lifestyle, and avoiding risky activities can help individuals live fulfilling lives.
If you have concerns about Marfan Syndrome, don’t hesitate to reach out to a healthcare provider. Early detection and proactive management make all the difference!
Stay informed, stay healthy!
Consult a Top Geneticists
Consult a Top Geneticists for the best advice
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Siddhita Healthcare., Bansdroni
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15 Years • MBBS,MS
Bengaluru
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Dr. Parul Sharma
Obstetrician and Gynaecologist
8 Years • MBBS, MS (Obstetrics & Gynaecology)
New Delhi
THE DOCTORS NESST, New Delhi
Dr. Rituparna De
Obstetrician and Gynaecologist
6 Years • MBBS, MS (Obstetrics & Gynaecology)
Kolkata
MCR SUPER SPECIALITY POLY CLINIC & PATHOLOGY, Kolkata
Dr. Pritam Dey
Obstetrician and Gynaecologist
6 Years • MBBS,MS(OBSTETRICS & GYNAECOLOGY),FMAS
Kolkata
Dr. Pritam Dey's Chamber, Kolkata
(25+ Patients)
Consult a Top Geneticists
Dr. Sangeetha M
Obstetrician and Gynaecologist
20 Years • MBBS,Dipolma in Obstetrics & Gynaecology
Bansdroni
Siddhita Healthcare., Bansdroni
Dr. Sanjan Das
Obstetrician and Gynaecologist
15 Years • MBBS,MS
Bengaluru
Apollo Clinic, Sarjapur Road, Bengaluru
Dr. Parul Sharma
Obstetrician and Gynaecologist
8 Years • MBBS, MS (Obstetrics & Gynaecology)
New Delhi
THE DOCTORS NESST, New Delhi
Dr. Rituparna De
Obstetrician and Gynaecologist
6 Years • MBBS, MS (Obstetrics & Gynaecology)
Kolkata
MCR SUPER SPECIALITY POLY CLINIC & PATHOLOGY, Kolkata
Dr. Pritam Dey
Obstetrician and Gynaecologist
6 Years • MBBS,MS(OBSTETRICS & GYNAECOLOGY),FMAS
Kolkata
Dr. Pritam Dey's Chamber, Kolkata
(25+ Patients)
