Medical Journal Articles

Current journal articles, posts and updates on LDS.


Evolution of a new gene for Loeys-Dietz syndrome


July 31, 2014:


In 2013, a mutation in the TGFB3 gene was found in a 9 year old girl with clinical features overlapping Marfan and Loeys-Dietz syndrome (Rienhoff, H. et al. Am J Med Genet A. 2013 Aug;161A(8):2040-6). Her features included contractures, weak muscle tone, bifid uvula, failure of normal post-natal muscle development. No cardiovascular or aneurysmal disease was noted in this girl. The patient had delayed growth with height and weight between 1st and 5th percentiles... Read More



Beta-blocker vs Losartan in Marfan Patients Results

November 18, 2014:

The results of the US trial examining Beta-blocker versus Losartan use in Marfan patients was released today at the American Heart Association (AHA) meeting. We are thankful to the Marfan Foundation and its community for pushing forward this research. Below is a link to official statements from the Marfan Foundation and the NHLBI.  In the Pediatric Heart Network (PHN) clinical trial of 608 Marfan syndrome patients between the ages of six months and 25 years, losartan (at up to the FDA recommended dose for hypertension) was shown to be equally effective as atenolol (at a dose above the FDA recommended daily dose), with both drugs leading to a significant decline in body size-indexed aortic root dimension over time. This is a new finding for losartan and confirms that adequate dosing of atenolol (titrated to hemodynamic effect) can have a significant impact on the aorta. 


We know that this may raise questions from the LDSF community and we encourage you to send your questions to This email address is being protected from spambots. You need JavaScript enabled to view it., as well as address your questions to your physicians. We will compile questions and respond to the community over the next week.


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