Marfan syndrome: Symptoms, diagnosis & treatment in Turkey

Marfan Syndrome: Causes, symptoms, and essential monitoring

Marfan syndrome is a rare genetic condition caused by a variant in the FBN1 gene, which codes for fibrillin-1, a protein that keeps connective tissue strong. When this protein is altered, several parts of the body are more vulnerable and need ongoing medical attention.

Common signs and symptoms

The condition looks very different from one person to another, but several features are frequent:

• Musculoskeletal system: Tall stature, long limbs and fingers, scoliosis, kyphosis, joint hypermobility, and chronic pain.
• Cardiovascular system: Progressive enlargement of the aorta, valve abnormalities, arrhythmias, shortness of breath, or chest discomfort.
• Eyes: Severe myopia, lens dislocation, and a higher risk of retinal detachment.
• Other features: Fatigue, recurrent sprains, chest wall deformities, narrow palate, and elongated facial traits.

Why personalized follow-up matters

Every patient has a different combination of symptoms, so follow-up must be individual. Regular cardiovascular imaging, orthopedic evaluations and eye exams help detect complications early.

Need specialized follow-up? Share your reports with us: our cardiology, genetics and orthopedic partner specialists can review them.

Diagnosis and ongoing care for Marfan syndrome in Turkey

Marfan syndrome is diagnosed and followed by a team that usually includes a cardiologist, a geneticist, an orthopedist and an ophthalmologist. The goal is to confirm the diagnosis and to set up a follow-up plan adapted to each patient.

How is Marfan syndrome diagnosed?

Diagnosis relies on the revised Ghent criteria (Loeys et al., Journal of Medical Genetics, 2010). They combine several elements:

• Family history.
• Physical examination, including the joints, spine, chest and eyes (with a slit-lamp eye exam to look for lens dislocation).
• Genetic testing for a variant in the FBN1 gene.
• Imaging, such as echocardiography, MRI and CT, to measure the aorta and assess other organs.

Follow-up care and prevention of complications

Regular monitoring is essential to detect complications early. Follow-up typically includes:

• Cardiology evaluations to track aortic size and adjust medication.
• Orthopedic assessments of the spine, joints and musculoskeletal alignment.
• Physical therapy and rehabilitation to maintain mobility and posture, adapted to your cardiac condition.

Pregnancy: pregnancy carries a risk of aortic complications in Marfan syndrome. See a cardiologist before conceiving. Surgery before pregnancy is recommended when the aortic root measures more than 4.5 cm (2022 ACC/AHA aortic disease guideline). During pregnancy, cardiac monitoring is needed.

Your support with Turquie Santé

Share your medical history and existing reports with us. A specialist reviews your case and you receive a detailed quote before deciding.

Medical treatment for Marfan syndrome

Medical therapy for Marfan syndrome is tailored to your age, aortic size and symptoms. Its goal is to slow the growth of the aortic root and reduce the risk of dissection.

• Beta-blockers or angiotensin receptor blockers (ARBs): the 2022 ACC/AHA aortic disease guideline recommends either a beta-blocker or an ARB, at the maximum tolerated dose. Beta-blockers slow the heart rate and lower the force exerted on the aorta.
• Other medications: your cardiologist may add or change treatments to manage blood pressure, heart rhythm or fluid retention, depending on your tolerance and health.
• Regular monitoring: echocardiography, MRI or CT track the aorta and guide treatment adjustments and the timing of surgery.

Never stop or change these medications on your own: the decision belongs to your cardiologist.

Surgical treatment for Marfan syndrome

Surgery is considered when medical therapy alone cannot control the complications of Marfan syndrome. It addresses cardiac and orthopedic problems.

Aortic surgery for Marfan syndrome

According to the 2022 ACC/AHA aortic disease guideline, surgery is recommended when the aortic root measures 5.0 cm or more, or 4.5 cm or more with high-risk features (such as a family history of dissection or rapid growth),when performed by an experienced surgeon. Your cardiologist and surgeon decide on the timing for your case. Several approaches exist:

• Aortic repair or replacement: the enlarged part of the ascending aorta is replaced. It aims to prevent aortic dissection, but it remains a major operation.
• David procedure (valve-sparing aortic root replacement): the diseased part of the aortic root is replaced while the patient's own aortic valve is preserved. It is technically complex and depends on a surgical team experienced in this operation.
• Bentall procedure: the aortic root and the valve are replaced together with a graft and a prosthetic valve.

Heart valve surgery

When Marfan syndrome causes significant valve problems, most commonly of the aortic or mitral valve, the valve can be repaired or replaced with a mechanical or biological prosthesis, depending on your condition. Mechanical valves require lifelong anticoagulant treatment: never stop it without your doctor's advice.

After surgery, you need regular echocardiograms and cardiology visits, and your medication may be adjusted.

Orthopedic surgery

Orthopedic surgery is considered for severe musculoskeletal problems such as scoliosis or joint deformities. It may include spinal fusion with metal rods to stabilize the spine. The goal is to improve posture, mobility and comfort.

After surgery, you usually follow a physical therapy program and have regular evaluations of the spine and joints.

The choice of surgery depends on your age, overall health and the severity of your condition. With Turquie Santé, specialists in Istanbul review your medical history and imaging results and propose options, with the risks of each.

Preparation and postoperative recovery

Before surgery, a full preoperative evaluation assesses your overall health and the risks of the procedure. Your surgeon explains the steps and the expected recovery for your operation.

After surgery, a physical therapy plan adapted to your operation and your cardiac condition helps you regain strength gradually. Recovery time depends on the type of surgery (aortic, valve or orthopedic) and on your health: your surgeon gives you the schedule for your case.

If you are unsure how to prepare or what your recovery will look like, ask the medical team your questions before making a decision.

Why choose Turquie Santé for Marfan syndrome care?

Before starting treatment, check what a medical center can document. Turquie Santé helps you check these points before you decide:

• Experience of the surgeon in aortic surgery for Marfan syndrome and in orthopedic procedures for deformities.
• Availability of cardiac imaging (echocardiography, MRI, CT) for ongoing monitoring.
• A treatment plan based on your age, symptoms and the progression of aortic changes.
• Rehabilitation and physical therapy adapted to your cardiac condition.

Send us your reports for review by a specialist and a detailed quote.