Marfan Syndrome

Question 1

What is Marfan syndrome?

Answer 1

Marfan syndrome is an autosomal dominant condition affecting the gene responsible for creating fibrillin. Fibrillin is an important component of connective tissue. This means people with Marfan syndrome have features resulting from abnormal connective tissue.

Question 2

Features of Marfan syndrome?

Answer 2

Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpebral fissures

There are two tests for arachnodactyly to remember: First, ask them to cross their thumb across their palm, if the thumb tip goes past the opposite edge of the hand this indicates arachnodactyly. Next ask them to wrap the thumb and fingers of one hand around the other wrist, if the thumb and fingers overlap this also indicates arachnodactyly.

TOM TIP: Marfan syndrome is a favourite for OSCE exams. If you meet a patient in your OSCE that appears tall, has hypermobility or a murmur suggestive of mitral or aortic regurgitation, think of Marfan syndrome. You can really impress you’re examiners by going on to examine for other features of the condition, such as looking in the mouth for a high arch palate, checking the arm span, looking for arachnodactyly and testing for hypermobility.

Question 3

Associated conditions Marfan syndrome?

Answer 3

Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
Gastro-oesophageal reflux
Mitral valve prolapse (with regurgitation)
Aortic valve prolapse (with regurgitation)
Aortic aneurysms

Question 4

Management Marfan syndrome?

Answer 4

The greatest risk is from the associated cardiac complications, particularly valve prolapse and aortic aneurysms. Where these complications occur they may require surgical correction.

The aim of management is to minimise the blood pressure and heart rate to minimise the stress on the heart and the risk of complications developing. This is achieved by lifestyle changes, such as avoiding intense exercise and avoiding caffeine and other stimulants. Preventative medications such as beta blockers and angiotensin II receptor antagonists can also help reduce the risk of complications. Pregnancy has to be carefully considered, as it carries a significant risk of developing aortic aneurysms and associated complications.

Physiotherapy can be helpful in strengthening joints and reducing symptoms arising from hypermobility.

Genetic counselling is important in considering the implications of having children that may be affected by the condition.

Patients are also regularly followed up and monitored for complications. This often involves yearly echocardiograms and review by an ophthalmologist.