Treatment of Marfan Syndrome in Israel

The disease is autosomal dominant (passed down in families in every generation, equally affecting men and women), caused by a defect in the FBN1 gene, which encodes the glycoprotein fibrillin-1. Fibrillin-1 is necessary for the proper formation of connective tissue.

Symptoms of the Disease

• Tall stature with long, thin limbs
• Long fingers of hands and feet (arachnodactyly)
• Frequent cases of scoliosis, pelvic and chest deformities
• Myopia, astigmatism, lens subluxation
• Early onset of glaucoma
• Cardiovascular problems – fatigue, shortness of breath, ischemic heart disease, valve defects.
• An important symptom is aortic aneurysm, which in women with Marfan syndrome can lead to an emergency situation during pregnancy – aortic dissection (regular echocardiographic checks are required every 6 weeks during pregnancy)
• Risk of developing pneumothorax
• The connective tissue defect manifests as weakening of the membrane lining the spinal cord, causing chronic back pain and abdominal pain

Treatment of Marfan Syndrome

Cardiology – monitoring the condition of the aorta. Patients with Marfan syndrome are prone to aortic dissection – an emergency condition that is life-threatening. Prevention includes treating arrhythmias, reducing heart rate, and lowering blood pressure.
Musculoskeletal system – physiotherapy, pain relievers, and muscle relaxants are prescribed.

Animal studies have shown the potential of losartan (an angiotensin II receptor antagonist) in slowing the formation of aortic aneurysms.

Advantages of Marfan Syndrome Treatment at Top Ichilov Clinic

• Specialists at Top Ichilov Clinic have the highest qualifications in medical genetics and experience working in leading centers in the USA, Canada, Europe, and Israel
• The most modern diagnostic and treatment equipment
• Postoperative care and hospital stay in luxury conditions

Diagnosis of Marfan Syndrome

• Clinical analysis
• Family history
• Genetic testing