What are the signs that suggest a person may have marfans?

What are the signs that suggest a person may have marfans?

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 someone get Marfan syndrome?

Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue. One in four people with Marfan syndrome develops the condition for unknown reasons. A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child.

What does mild Marfan syndrome look like?

People with Marfan syndrome are often very tall and thin. Their arms, legs, fingers and toes may seem out of proportion, too long for the rest of their body. Their spine may be curved and their breastbone (sternum) may either stick out or be indented. Their joints may be weak and easily become dislocated.

Can people with Marfan syndrome lead a normal life?

People with Marfan syndrome who are diagnosed early and receive proper medical treatment can now live a lifespan equal to people in the general population.

What is the quality of life for someone with Marfan syndrome?

In this study of 174 affected adults, the overall quality of life was reported to be adequate, although it was significantly decreased within the spiritual/psychological domain. Approximately 62% agreed that having Marfan syndrome significantly affected their reproductive decision-making.

Is Marfan syndrome a disability?

People who are properly diagnosed with Marfan syndrome are often able to lead normal lives with treatment. However, severe cases that do not respond to treatment can cause a person to be considered disabled.

Can Marfan cause sudden death?

Marfan syndrome is a common, preventable cause of sudden cardiac death in the athlete. It is an autosomal-dominant disorder of connective tissue with variable penetration that affects multiple organ systems. Aortic root aneurysm rupture or dissection is the most common cause of sudden death.

Is Marfan a terminal?

How often is the condition fatal? Marfan’s disease used to always be fatal—a person wouldn’t normally live past the age of 45. Today, with aggressive treatment, people can live well beyond that. One of the difficulties is that in patients with Marfan’s disease you tend to chase the aorta.

What are some interesting facts about Marfan syndrome?

Marfan syndrome runs in families.

• People with Marfan syndrome tend to be very tall and thin (like Abraham Lincoln)
• Marfan syndrome can be mild or severe.
• They may have eye, heart, and lung problems.
• The most serious complication of Marfan syndrome is a problem with the aorta (the largest artery in the body)

What athletes have Marfan syndrome?

Isaiah Austin, a star basketball player from Baylor University, was diagnosed with Marfan syndrome in the weeks prior to the 2014 NBA draft (Figure 1).

Is it safe to play sports with Marfan syndrome?

In general, most people living with Marfan syndrome should exercise regularly through low-intensity, low-impact activities adapted to meet their specific needs. They should avoid contact sports because of the risk of damaging the aorta and injuring the eyes.

At what age is Marfan syndrome detected?

Study Patients. Their ages when the Marfan syndrome was first diagnosed ranged from 32 to 72 years (mean age, 46 years). Of these 28 patients, 7 were older than 50 years of age at the time of initial diagnosis. The series consisted of 13 women and 15 men.