Phenotypic Diversity of Marfan Syndrome

Abstract excerpt

Marfan syndrome (MFS) is a genetic disorder primarily impacting the cardiovascular system, eyes, and skeletal structure, with its root cause being mutations in the FBN1 gene. The condition is notably associated with risks such as aortic aneurysm and aortic dissection, which largely drive mortality among those affected. However, the clinical presentation of MFS varies widely, and the link between specific genetic...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aortic aneurysm repair treatments
• Share to Aortic Disease and Treatment Approaches
• Share to Connective tissue disorders research