How much do you know about Marfan syndrome?

6 Questions

What is the role of fibrillin-1 in the body?

It provides strength and flexibility to tissues.

What is the role of fibrillin-1 in the body?

It plays a role in the formation of elastic fibers, which provide strength and flexibility to tissues.

What is the chance of Marfan syndrome being passed on to children?

50%

Who is at significant risk of aortic dissection during pregnancy?

Women with Marfan syndrome

What is the Ghent criteria used for?

To diagnose Marfan syndrome

When was the gene linked to Marfan syndrome identified?

1991

Study Notes

Marfan syndrome is a genetic disorder that affects the connective tissue.
Symptoms include being tall and thin with long limbs, flexible joints, and curved spines.
The heart and aorta are at risk, with an increased risk of mitral valve prolapse and aortic aneurysm.
Diagnosis is based on the Ghent criteria.
There is no known cure, but management includes medication and surgery.
Marfan syndrome affects about 1 in 5,000 to 1 in 10,000 people worldwide.
Skeletal, ocular, cardiovascular, and nervous systems can be affected.
Marfan syndrome is caused by a mutation in the FBN1 gene, which encodes fibrillin 1.
It is an autosomal dominant disorder with a 50% chance of being passed on to children.
Complete penetrance has been definitively documented, and reducing the level of normal fibrillin 1 causes a Marfan-related disease in mice.
Marfan syndrome is a genetic disorder that affects the body's connective tissue.
The disorder is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1.
Fibrillin-1 plays a role in the formation of elastic fibers, which provide strength and flexibility to tissues such as the skin, ligaments, and blood vessels.
Marfan syndrome can affect many parts of the body, including the heart, eyes, skeleton, and lungs.
The disorder is often difficult to diagnose in children, as symptoms typically do not appear until puberty.
There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades.
Treatment involves addressing each issue as it arises and may include medication, surgery, and regular checkups to monitor the health of the heart valves and aorta.
Physical activity is recommended but should be limited for those with significant aortic dilation.
Women with Marfan syndrome are at significant risk of aortic dissection during pregnancy and should receive thorough assessment and monitoring.
Prenatal testing can be performed to determine if the condition has been inherited in a child.
Marfan syndrome affects males and females equally.
The condition shows no ethnic or geographical bias.
Approximately 1 in 5,000 to 10,000 individuals have Marfan syndrome.
The syndrome was first described by Antoine Marfan in 1896.
The gene linked to the disease was identified in 1991 by Francesco Ramirez.
Famous people who had Marfan syndrome include Abraham Lincoln, Michael Phelps, and Jonathan Larson.
Speculative historical figures and celebrities are often associated with the syndrome.
There is a bibliography and references section for further reading.
There are external links available for additional information.
No treatment or cure for Marfan syndrome currently exists.