TürkiyeResearch and clinical trials
12 children with Marfan syndrome in Ordu: half had widening at the root of the main artery
The heart findings of children with Marfan syndrome were studied at Ordu University.
Peer-reviewed publicationMarfan
Heart and blood vessel diseases
Marfan syndrome
An inherited disease that affects the body's connective tissue. People are usually tall and thin. The main artery leaving the heart, called the aorta, and the eyes can be affected.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: French, Polish, German, English, Spanish, Italian, Portuguese). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Heart and blood vessel diseases” group.
Understanding the disease
This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.
What happens in this disease?
A change in the FBN1 gene disrupts a protein called fibrillin. This protein gives connective tissue its strength and flexibility. Because connective tissue is found everywhere, the heart, blood vessels, eyes, bones and joints are affected. The most important problem is widening and weakening of the aorta.
Which symptoms can occur?
Symptoms range from mild to severe and can appear at any age.
- Tall stature; long, thin arms, legs and fingers
- Widening or ballooning of the aorta
- Leaking heart valves
- The lens of the eye moving out of place and myopia (common)
- Curvature of the spine; a sunken or protruding chest
- Very flexible joints and flat feet
- Collapsed lung (sometimes)
How is it diagnosed?
The diagnosis is based on a detailed examination and the health history of the person and the family. The heart and aorta are examined with echocardiography. An eye examination is done. In some people, the FBN1 gene is tested.
Treatment and care
There is no treatment that removes the disease. The aim is to manage the symptoms and protect the aorta. The aorta is usually imaged once a year. Medicines that lower the heart rate and blood pressure can reduce the strain on the aorta. If needed, surgery on the aorta and valves is done. Eye problems are treated; the spine is followed up. Some activities may need to be limited. Close follow-up is essential during pregnancy. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
The disease is passed on through dominant inheritance. This means that a single faulty gene is enough. For each child of an affected parent, the chance of passing it on is 1 in 2. In about 1 in 4 cases, there are no other affected family members; the gene change occurs for the first time. Genetic counselling is recommended for couples planning to have children.
Source: NHS: Marfan syndrome · MedlinePlus Genetics: Marfan syndrome · MedlinePlus: Marfan syndrome
Key facts
- How common is it?
- Prevalence: 1-5 per 10 000 (Europe)
- How is it inherited?
- Autosomal dominant
- When does it usually start?
- Any age
- Reliable sources
- MedlinePlus (for families) · Orphanet
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
You are not alone: patient associations in Türkiye
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Support and help
- In an emergency in Türkiye, call 112.
- For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
- For carers: Looking after yourself as a caregiver
- Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
News about Marfan
Clinical trials (ClinicalTrials.gov)
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.
Questions you can ask your doctor
- Could this trial be suitable for us?
- If we take part, how would current treatment and check-ups be affected?
- Where does the trial take place, and how are travel and accommodation handled?
- What happens if we want to leave the trial?
ClinicalTrials.gov lists 4 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
- Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Marfan Syndrome
Non-drug study (device, procedure, care, etc.)RecruitingNCT05838235
- Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
Non-drug study (device, procedure, care, etc.)RecruitingNCT02050113
- Marfan Syndrome Moderate Exercise Trial II
Non-drug study (device, procedure, care, etc.)RecruitingNCT05809323
- Nutritional Ketosis Marfan
Non-drug study (device, procedure, care, etc.)Not yet recruitingNCT07495267
See all studies on ClinicalTrials.gov · Joining clinical trials
Heart and blood vessel diseases: other news
TürkiyeResearch and clinical trials
Families of children with inherited heart rhythm disorders experience anxiety: a 53-patient study from Hacettepe
Hacettepe University measured anxiety in children with inherited rhythm disorders and in their families.
Peer-reviewed publicationLong QT syndrome
ThailandResearch and clinical trials
Ablation reduced dangerous rhythm episodes in Brugada syndrome
In Thailand, a trial was carried out in patients with Brugada syndrome who had an implanted shock device (defibrillator).
Peer-reviewed publicationBrugada
EuropeResearch and clinical trials
Blood pressure drug irbesartan reduced vascular events over two years in vascular EDS
Irbesartan was tested in a trial with 57 adults with vascular EDS.
Peer-reviewed publicationVascular EDS
Medical codes (for talking with your doctor and finding sources)
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:558 · ICD-11 LD28.01
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.