Marfan syndrome affects males and females in equal numbers and occurs worldwide with no ethnic predisposition. The prevalence has been estimated to be 1 in 5-10,000 individuals in the general population.
What are 5 of the characteristics and symptoms of Marfan syndrome?
Marfan syndrome features may include:
- Tall and slender build.
- Disproportionately long arms, legs and fingers.
- A breastbone that protrudes outward or dips inward.
- A high, arched palate and crowded teeth.
- Heart murmurs.
- Extreme nearsightedness.
- An abnormally curved spine.
- Flat feet.
How does Marfan syndrome affect fibrillin?
The genetic defect of fibrillin-1 leads to an increase in the production of another protein, transforming growth factor beta, or TGF-B. It is this protein’s overproduction that is responsible for the features present in a person with Marfan syndrome.
What is pathogenesis of Marfan syndrome?
Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. This gene encodes fibrillin-1, a glycoprotein that is the main constituent of the microfibrils of the extracellular matrix.
Can Marfan skip a generation?
Doctors there had more urgent news: The entire family could be at risk. “Dr. Bove told us we would need to be tested for the mutation that causes Marfan syndrome,” Post says. “He told us that Marfan does not skip a generation, so one of us likely had the syndrome.”
How does Marfan syndrome affect the blood vessels?
Blood vessel changes: With Marfan syndrome, the walls of the blood vessels become weak and dilate (stretch). These blood vessel changes often affect the aorta, the major artery that carries blood from the heart to the rest of the body.
Does Marfan syndrome cause joint pain?
Because Marfan syndrome weakens connective tissue throughout the body, it can cause a wide range of health problems. It most commonly affects the heart, eyes, bones, and joints.
What is Marfan syndrome syndrome?
Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage.
What is the life expectancy for people with Marfan syndrome?
The cardiac complications, particularly aortic dilatation, dissection and rupture and involvement of the aortic and mitral valves, lead to a greatly reduced life expectancy. This poor survival was demonstrated in a series of 257 patients with the Marfan syndrome. The average age at death for the 72 deceased patients was 32 years.
What are the chances of getting Marfan syndrome?
In most cases, Marfan syndrome is inherited from a parent, but 1 in 4 cases occurs in people with no known family history of the disease. It occurs equally in men and women, who have a 50% risk of passing on the gene to their children. Marfan syndrome is present at birth, but may not be diagnosed until adolescence or later.
What makes Marfan syndrome a disorder?
Synonyms of Marfan Syndrome
