Marfan's syndrome 4.5/5 (6)

Share Button

Marfan Syndrome. Illustration: Thumb and little finger meet at Marfan's syndrome. Illustration from Staufenbiel I et al. CC BY 2.0

Marfan's syndrome. ICD-10 Q87.4


Marfan Syndrome is a hereditary (genetic) disease (autosomal dominant) caused by defect (misfolding) in the protein fibrillin-1 encoded by the gene FBN1 on chromosome15. Thus, Marfan's syndrome is a congenital, genetic condition that differs from the systemic autoimmune connective tissue diseases. About 25% are spontaneous mutations without family disposition (Big Norwegian Leksikon, A Heiberg 2009). Along with vascular form (which attacks blood vessels) of Ehlers-Danlos syndrome, Loeys-Dietz syndrome og hereditary thoracic aortic aneurysm (HTAD), the disease is included among the hereditary "Marfan-like" diseases.


Prevalence: 1 among 20.000 persons (approx. 500 in Norway). Marfan's disease is thus defined as one rare disease.


Marfan syndrome, hands

Marfan Syndrome. Long, thin fingers at Marfan's syndrome. Illustration: Department of Pedodontics, SRM Dental College, SRM University, Chennai 600078, India. CC BY 3.0

The skeletal system


The heart and blood vessels

  • Most serious complications that can be life threatening
  • Irregular heart rhythm
  • Heart valve leak
  • Extended diameter of the aorta artery (aortic aneurysm)
  • Aortic dissection (Damage and leakage of the bloodvessel wall)
  • Special attention in pregnancy is important



Often used criteria for diagnosis (2010 Ghent) which distinguishes between those who have Marfan's disease in their immediate family and those without hereditary disposition:

Without hereditary disposition:

  • Aortic root enlarged (Z-score ≥2) and ectopic lens
  • Aortic root expanded (Z-score ≥2) and FBN1 mutation (gene test)
  • Aortic root dilated (Z-score ≥2) and systemic scoring *> 7 points (special scoring system *)
  • Ectopic lens and FBN1 mutation with known aortic infection

With family with Marfan's disease:

  • Ectoptic lens
  • Systemic score * Aortic root expanded ≥7
  • Aortic root dilated (Z-score ≥2)

* Pectus carniatum = 2 (pes excavatum or asymmetric = 1), Malleol deformity (ankle) = 2 (flat foot = 1), Dural ectasi = 2, Protrusio acetabuli = 2, Dys proportional arm length = 1, Scoliosis or kyphosis = 1, Reduced Elbow Extension = 1, Facial Skeleton Changes = 1, Striae in Skin = 1, Myopy = 1, Mitral Prolapse = 1.

Old criteria: Major criteria (at least 4):

  1. Reduced proportion of upper body / lower body ratio (0,85 vs 0,93 in normal)
  2. Arachnodactyli (fingers, toes), positive thumb-wrist test)
  3. Scoliosis more than 20 degrees or spondylolistesis
  4. Medial malleol misalignment giving pes planus (plate foot)
  5. Reduced extension of elbows (
  6. Pectum carniatum (bird breast) (Differential Diagnosis: Morquio syndrome, Noonan syndrome, Trisomi 18, Trisomi 21, Homocystinuria, Osteogenesis imperfecta, Multiple lentigine syndrome, and Sly syndrome)
  7. Pectus excavatum (funnel chest) that requires surgery
  8. Protrusio Acetabuli (Differential diagnoses: Paget's syndrome, rheumatoid arthritis, ankylosing spondylitis, osteomalacia)

Genetics / Heredity


There is still no treatment that cures Marfan's syndrome. But the prognosis has improved a lot over the last ten years. This is related to the use of regular medical follow-up that includes cardiac specialist (cardiologist) checks, blood vessel tests to exclude or follow up aneurysms and treatment of pneumothorax.

Incorrect diagnosis? (Similar diseases / differential diagnoses)


No curative treatment is available

  • If enlargement of the arteries (aneurysms) occur, may surgery to prevent the artery from bursting (aortaruptur) become necessary.
    • Karate surgeons / thoracic surgeons have guidelines for when operations should be performed.
  • Blood pressure measurements are important to detect any high blood pressure that may increase the risk of aortic aneurysms
  • Usual physical activity is recommended. Intensive, hard physical exercise increases the pressure on the blood vessels and should be avoided
  • Cortisone and other immunosuppressive treatment have no place in the treatment of hereditary connective tissue diseases, unlike autoimmune connective tissue disease
  • Tablets in the form of a beta-blocker can reduce blood vessel complications and are recommended for many
  • The treatment is otherwise dependent on any complications from the eyes, joints, spinal column and the like


Regular blood vessel monitoring is important

  • MRI angiography produces the major arteries from the head, neck, chest, abdomen and pelvis
  • Also included ultrasound Doppler / echocardiography the diameter of the main artery at the heart and the aortic arch can be measured
  • If the artery expands, measurements are made at least every six months, otherwise annually for a longer period
  • Also by CT examination the entire main artery can be produced. The examination is not done too often due to X-rays.


This page has had 2 visits today

Please rate this page