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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 […]
Ehlers-Danlos Syndrome hypermobility type is one of six different types of Ehlers-Danlos syndromes, and it is the most common. Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that predominantly affects the skeletal system. It is characterized by loose joints, often associated with chronic (long-term) joint pain. What other names do people use for Ehlers-Danlos […]
In some families, dislocation of the lens of the eye (ectopia lentis) is the predominant feature that passes from generation to generation. Sometimes, this occurs along with some of the skeletal (bone and joint) features of Marfan syndrome. This combination of features is called ectopia lentis syndrome. What are the characteristics of ectopia lentis syndrome? […]
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