Other Names for this Disease
- Contractural arachnodactyly
- Marfan syndrome type 1
What are the signs and symptoms of Marfan syndrome?
How is Marfan syndrome inherited?
Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. 
Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.
- Marfan Syndrome. Genetics Home Reference Web site. 2006; http://ghr.nlm.nih.gov/condition%3Dmarfansyndrome. Accessed 9/29/2009.
- What Are the Signs and Symptoms of Marfan Syndrome?. National Heart Lung and Blood Institute. 2010; http://www.nhlbi.nih.gov/health/health-topics/topics/mar/signs.html. Accessed 10/15/2013.
- Harry C. Dietz, MD. Marfan syndrome. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1335/. Accessed 10/15/2013.