Loeys-Dietz Syndrome

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

Contact the Cardiovascular Genetics Program

What is Loeys-Dietz syndrome?

Loeys-Dietz syndrome is a rare, genetic condition that affects the formation of a child’s connective tissue. This can lead to problems with many different parts of the body, including stretching or dilation of arteries, called aneurysms, which can be life threatening. This is the most dangerous complication of Loeys-Dietz syndrome.

What are the symptoms of Loeys-Dietz syndrome?

Loeys-Dietz syndrome affects different kids in different ways. Even among members of the same family, the signs and symptoms of Loeys-Dietz syndrome vary widely — both in their features and in their severity. Your child’s doctor can help you decide if your child should be evaluated for Loeys-Dietz syndrome.

Some of the signs and symptoms of Loeys-Dietz syndrome may include:

  • twisted or enlarged arteries
  • extreme looseness of joints or skin
  • split uvula (the tissue that hangs down in the back of the throat is divided)

What are the causes of Loeys-Dietz syndrome?

Loeys-Dietz syndrome is caused by a mutation (change) in one of the genes responsible for the formation of connective tissue in the body.

In about 25 percent of cases, a child with Loeys-Dietz syndrome has inherited a copy of the abnormal gene from an affected parent. In the other 75 percent, the change in the gene mutates spontaneously for no apparent reason.

How we care for Loeys-Dietz syndrome

Loeys-Dietz syndrome is a complex condition, and no single specialist is equipped to treat your child for all his or her symptoms. At Boston Children’s Hospital, your child’s care team may include physicians from several disciplines, including cardiac surgery, cardiology, genetics, ophthalmology, orthopedics, plastic surgery and general surgery. Each member of the team is experienced in the treatment of Loeys-Dietz syndrome.

While there’s no cure for Loeys-Dietz syndrome, we have many ways of managing your child’s symptoms — so he or she can live a healthy, productive life.

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337

Close