What is Marfan's syndrome primarily characterized by?

Study for the CCI Echocardiography Test. Prepare with flashcards and multiple choice questions, each with hints and explanations. Get ready for your exam!

Marfan's syndrome is primarily characterized as a congenital connective tissue disease, which stems from a genetic mutation affecting the body's connective tissue. This disorder leads to a range of structural defects, particularly in the cardiovascular system, bones, and eyes. The connective tissues are critical for maintaining the structure and support of organs and other tissues, which explains the various manifestations in individuals with this syndrome.

In Marfan's syndrome, the weakened connective tissue primarily affects the aorta, leading to conditions such as aortic dilation and regurgitation, as well as mitral valve prolapse. Other skeletal features may include tall stature, long limbs, and disproportionate body parts, while ocular complications can result in dislocated lenses or myopia.

This condition is not categorized as congenital heart disease on its own, as that term typically refers to structural heart defects present at birth. Similarly, it is not classified as an acquired cardiovascular disease since Marfan's syndrome is present from birth as a genetic defect. While neuromuscular disorders involve issues with muscles and the nervous system, they do not encompass the connective tissue abnormalities that define Marfan's syndrome. Thus, the characterization of Marfan's syndrome as a congenital connective tissue disease accurately encompasses its primary features and implications.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy