Tag Archives: blood vessels

Marfan Syndrome Awareness

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.

Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.

Who has Marfan syndrome?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

Knowing the signs of Marfan syndrome can save lives
People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.

This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be.

Knowing the signs of Marfan syndrome can save lives. Our community of experts estimates that nearly half the people who have Marfan syndrome don’t know it. This is something we are working hard to change.

Congenital Heart Defects: Frequently Asked Questions

What is a congenital heart defect?

  • Congenital heart defects (CHDs) are problems with the heart’s structure that are present at birth.
  • Common examples include holes in the inside walls of the heart and narrowed or leaky valves. In more severe forms of CHDs, blood vessels or heart chambers may be missing, poorly formed, and/or in the wrong place.

How common are congenital heart defects?

  • CHDs are the most common birth defects. CHDs occur in almost 1% of births.
  • An approximate 100-200 deaths are due to unrecognized heart disease in newborns each year. These numbers exclude those dying before diagnosis.
  • Nearly 40,000 infants in the U.S. are born each year with CHDs.
  • CHDs are as common as autism and about twenty-five times more common than cystic fibrosis.
  • Approximately two to three million individuals are thought to be living in the United States with CHDs. Because there is no U.S. system to track CHDs beyond early childhood, more precise estimates are not available.
  • Thanks to improvements in survival, the number of adults living with CHDs is increasing. It is now believed that the number of adults living with CHDs is at least equal to, if not greater than, the number of children living with CHDs.

What is the health impact of congenital heart defects?

  • CHDs are the most common cause of infant death due to birth defects.
  • Approximately 25% of children born with a CHD will need heart surgery or other interventions to survive.
  • Over 85% of babies born with a CHD now live to at least age 18. However, children born with more severe forms of CHDs are less likely to reach adulthood.
  • Surgery is often not a cure for CHDs. Many individuals with CHDs require additional operation(s) and/or medications as adults.
  • People with CHDs face a life-long risk of health problems such as issues with growth and eating, developmental delays, difficulty with exercise, heart rhythm problems, heart failure, sudden cardiac arrest or stroke.
  • People with CHDs are now living long enough to develop illnesses like the rest of the adult population, such as high blood pressure, obesity and acquired heart disease.
  • CHDs are now the most common heart problem in pregnant women.

What causes congenital heart defects?

  • Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions.
  • Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. Because the heart is formed so early in pregnancy, the damage may occur before most women know they are pregnant.
  • Environmental exposures that may be related to risk of having a CHD include the mother’s diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking, and some infections also may raise the risk of having a baby with a CHD. Preventing these risk factors before a pregnancy is crucial.
  • A baby’s risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.