Marfan Syndrome: Symptoms, Causes, Treatment
متلازمة مارفان
Marfan syndrome affects connective tissue and can involve the aorta, eyes and skeleton. Surveillance helps prevent complications that may develop silently. Tall stature or a slim build alone does not establish the diagnosis.
What is Marfan Syndrome?
Features vary within families, even with the same genetic change. Monitoring the aorta and heart valves is a priority alongside eye and skeletal care; treatment should not wait for pain.
Related reading: Ehlers-Danlos syndromes: other connective-tissue disorders.
Symptoms
Long limbs or fingers, spinal curvature, chest-wall differences, nearsightedness or lens displacement may occur. Aortic enlargement can be symptomless, and outward appearance does not measure cardiovascular risk.
Causes
Most cases involve a change in the fibrillin-1 gene. It may be inherited from one parent or arise as a new variant. The disorder is not contagious or caused by exercise or diet.
Risk factors
An affected parent increases inheritance risk, but absence of family history does not exclude Marfan syndrome. Aortic enlargement or rapid growth and pregnancy-related circumstances require individualized specialist planning.
Diagnosis
Diagnosis combines family history, eye and skeletal examination and heart or aortic imaging, sometimes supported by genetic testing. Specialists apply diagnostic criteria and consider similar disorders; home flexibility checks are insufficient.
Treatment
Cardiology care may include medicines that reduce aortic stress, repeat imaging and individualized activity advice. Surgical timing considers aortic size, growth, family history, pregnancy and other risks rather than one universal size threshold.
Complications
Complications include aortic aneurysm or dissection, valve disease, retinal detachment and pneumothorax. Intervention needs vary, and other aortic segments may still need monitoring after surgery.
Prevention
The genetic cause cannot be removed, but surveillance and appropriate activity help reduce complications. Avoid exertion specifically restricted by the care team. Discuss pregnancy and medicines in advance and consider genetic assessment for relatives.
When to see a doctor
Sudden severe chest, back or abdominal pain, fainting or marked breathlessness requires emergency help because of possible aortic disease. New flashes or a curtain across vision needs urgent eye assessment.