For years, geneticists and cardiologists have taken pride in their ability to identify individuals with Marfan syndrome based on clinical assessment alone, and have minimized a role for genetic testing in the diagnosis. Once the gene FBN1 was found to be the cause of Marfan syndrome, testing was undertaken to determine the role of genetic testing in […]
Endocarditis Prophylaxis for People with Marfan Syndrome In April 2007, the American Heart Association (AHA) revised its guidelines for antibiotic treatment at the time of dental procedures and other medical situations in which there is a high likelihood of bacteria entering the bloodstream. In general, the AHA guidelines are the “gold standard” in the United […]
Endovascular Repair in Marfan Syndrome Patients The Professional Advisory Board of The Marfan Foundation is in agreement with the Expert Consensus Document on the Treatment of Descending Thoracic Aortic Disease Using Endo-Vascular Stent-Grafts (Ann Thorac Surg 2008;85:S1-41) and the American Heart Association (AHA) guidelines entitled “Surgical Management of Descending Thoracic Aortic Disease: Open and Endovascular […]
Stickler syndrome is a group of genetic disorders that affects connective tissue, specifically collagen. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems. What are the features of Stickler syndrome? How prevalent is Stickler syndrome? What other names do people use for Stickler syndrome? How is Stickler syndrome diagnosed? Find […]
MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome in that people with the condition have the similar Mitral valve, Aorta, Skin, and Skeletal features. People with MASS phenotype do not have lens dislocation, but rather myopia (nearsightedness), and do not show progressive and dangerous aortic root enlargement, hallmark features of Marfan syndrome. What other […]
A thoracic aortic aneurysm is an enlargement of the aorta in the thoracic cavity (chest area), which is the first part of the artery that takes blood away from the heart. A thoracic aortic aneurysm can progressively enlarge over time and doesn’t usually have symptoms. However, if an enlarged aneurysm is not surgically repaired, it […]
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