Latest Loeys-Dietz syndrome Stories
A team of investigators has developed an innovative blood test that may provide a faster, simpler way for emergency room doctors and others to diagnose and monitor potentially deadly aortic aneurysms and aortic dissections (a tear in the wall of the aorta) for which early diagnosis is critical for survival.
Systemic complications include life-threatening thoracic aortic disease
A USC research team has pinpointed the source of a genetic disorder that causes life-threatening birth defects, which may allow doctors to quickly diagnose and better treat the disease.
Some doctors might see a patient with Marfan syndrome once or twice a year.
Richard Holbrooke, John Ritter, Lucille Ball, Jonathan Larson and Great Britain's King George II were all taken by the same silent killer: an acute aortic dissection.
Johns Hopkins researchers have compiled what they believe are reliable lists of tell-tale physical signs to help doctors recognize children with Marfan and Loeys-Dietz syndromes.
Marfan's syndrome is a genetic disorder of the connective tissue that causes excessively tall stature and long extremities. It is carried by the gene FBN1, which encodes the connective protein fibrillin-1, and is a dominant trait. The human genetic makeup contains a pair of FBN1 genes, so because of its dominance, inheriting one affected FBN1 gene from either parent will result in Marfan's syndrome. It effects both males and females, and has no ethnic bias. It was named after Antoine Marfan,...
- Large; stout; burly.