Question

___ is characterized by connective tissue abnormalities including joint hypermobility, recurrent joint dislocations, velvety hyperextensible skin with easy bruisability, and atrophic scars. Patients can develop acute mitral regurgitation secondary to myxomatous degeneration and rupture of the chordae tendineae.

Answer 1

Marfan syndrome is a genetic disorder that affects connective tissues, causing various symptoms including joint hypermobility and skin abnormalities. It can also lead to complications such as acute mitral regurgitation.

Step-by-step explanation:

This condition is called Marfan syndrome. Marfan syndrome is an autosomal dominant genetic disorder that affects the connective tissues in the body. It is caused by mutations in the FBN1 gene, which affects the production of fibrillin-1, an important protein for the structure and function of connective tissues. The symptoms of Marfan syndrome include joint hypermobility, recurrent joint dislocations, velvety hyperextensible skin with easy bruisability, and atrophic scars. Additionally, patients with Marfan syndrome can develop acute mitral regurgitation secondary to myxomatous degeneration and rupture of the chordae tendineae.