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Wednesday, 21 November 2007

Treatment of genetic diseases: in the real world. 5. Marfan syndrome

Marfan Syndrome is a multisystem inherited diseases; the major organ involvement is cardiovascular system. patient s with Marfan Syndrome will gradually develop enlargment of the great artery of heart (Aorta) due to weakness of the supporting tissues and leading to tearing (dissection) which are mostly fatal. See more informations of Marfan Syndrome in the link provided
http://clinicalgenetics.blogspot.com/2007/11/marfan-syndrome.html
Treatment of Marfan Syndrome is including advice to avoid vigorous exercise and regularly taking drug which reduce the force of heart beat that are proved to slow progression of the disease. Echocardiography (Ultrasound image of the heart and arteries) periodically to measure sizes of arteries in case of too much enlarge that hhaving high risk for tearing or rupture, prophylactic surgery will have done.

Drug use in Marfan Syndrome
Propanolol Inderal from Wyeth NEngl J Med. 1994 May 12;330(19):1335-41

Enalapril Renitec from Merck Am J Cardiol 2005;95:1125–1127

Atenolo and losartan
A Clinical Trial Comparing Atenolol and Losartan Is Beginning
Reed E. Pyeritz, M.D., Ph.D.
Professor of Medicine & Genetics
University of Pennsylvania School of Medicine
Philadelphia, PA, USA

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