Marfan syndrome is a rare inherited disorder of the connective tissue. It affects approximately 0.5 to 1 in 10,000 births. It affects men and women equally. Connective tissue is responsible for giving strength to a wide range of structures in the body.
Who does Marfan syndrome affect?
Marfan syndrome is a genetic disorder. Most people who have Marfan syndrome are first-degree relative of someone else who has Marfan syndrome. It is transferred in an “autosomal dominant” manner, this means that the child of a parent who suffers Marfan syndrome has a 50% chance of also having Marfan syndrome. However, up to 25% of cases of Marfan syndrome are due to a sporadic or random mutation in the gene responsible for developing Marfan syndrome, therefore have no relatives who have Marfan syndrome.
What are the features of Marfan syndrome?
- Tall, thin build with disproportionately long arms, hands and fingers
- High arched palate
- Chest deformities with depression (pectus excavatum) or protrusion (pectus carinatum) of the breastbone
- Abnormalities of the curvature of the spine
- Dilation of the thoracic aorta – this is an important feature of Marfan syndrome and the leading cause of death and disability in the disorder
- Leaking valves
- Short sightedness due to elongated eyes
- Displacement of the lens of the eye
- Retinal detachment
How is Marfan syndrome diagnosed?
Marfan syndrome is diagnosed based on the presence of the features previously described. If Marfan syndrome is suspected you will a slit-lamp examination will be performed to examine the eyes and an echocardiogram to assess the heart valves and the size of the aorta.
Occasionally Marfan syndrome is difficult to diagnose and genetic testing may be performed
All first-degree relatives of someone diagnosed with Marfan syndrome should undergo examination to determine if they also have Marfan syndrome.
How are the cardiovascular features of Marfan syndrome managed?
Individuals with Marfan syndrome are at a high risk of developing thoracic aortic aneurysms with 95% of individuals developing dilation of the aorta by age 65. Close surveillance is necessary to prevent complication such as aneurysm rupture or aortic dissection (click on the link for more information on aortic aneurysm and aortic dissection)
Surveillance will include a regular transthoracic echocardiogram. Where necessary, you may be referred for further imaging such as CT aortagram or MRI angiogram.
An operation may be advised if the size of the aorta enlarges rapidly between assessments or if the aorta reaches a certain size. This is to prevent the life threatening complications of aneurysm rupture or aortic dissection.
Other measures that reduce the risk of aneurysm in individuals with Marfan syndrome include:
- Management of blood pressure, particularly with medications such as beta-blockers
- Help and advice for smoking cessation
- The avoidance of strenuous exercise
Longo D, Fauci A, Kasper D, Hauser S, Jameson J, Loscalzo J. Harrison’s Principles Of Internal Medicine. 18 ed. New York: McGraw Hill Medical; 2012.
Romaniello, Federico, Donatella Mazzaglia, Antonio Pellegrino, Susanna Grego, Roberto Fiorito, Amedeo Ferlosio, Luigi Chiariello and Augusto Orlandi. Aortopathy in Marfan Syndrome: An Update. Cardiovascular Pathology 2014; 23(5): 261-266.
Cheng, A. and D. Owens. Marfan Syndrome, Inherited Aortopathies and Exercise: What Is the Right Answer? Heart . 2015; 101(10): 752-757.