Loeys-Dietz syndrome

Loeys-Dietz syndrome is a genetic disorder that affects connective tissue. Connective tissue protects, supports and gives structure to all other tissues and organs in the body.

Most people with Loeys-Dietz syndrome inherit it, meaning it is passed down from parent to child. But sometimes it occurs spontaneously, with no prior history in the family.

The disorder is caused by a change (variant) in one of several genes and can cause problems in multiple body systems. Depending on what parts of the body are affected, Loeys-Dietz syndrome can cause life-threatening complications.

Because symptoms of Loeys-Dietz syndrome be life-threatening condition, early diagnosis and treatment are critical.

If you are evaluated for Loeys-Dietz syndrome at Penn, you’ll have:

• Physical exam and medical history: we ask you detailed questions about your medical history and family medical history. Then we do a thorough exam to look for features of Loeys-Dietz syndrome.
• Angiogram: this test looks closely at the arteries to detect aneurysms or arterial tortuosity.
• Echocardiogram (echo): this test uses ultrasound waves to take pictures of the heart to look for structural defects.
• Eye exam: we will examine your eyes for any abnormalities.
• Imaging tests: computed tomography (CT) scans and magnetic resonance imaging (MRI) can take detailed pictures inside your body. This can help evaluate your spine and other structures.
• Genetic testing and counseling: a special genetic test evaluates the genes involved in Loeys-Dietz A genetic specialist can help you determine whether you or your family members should get genetic testing. Anyone having genetic testing should also have genetic counseling. A trained counselor can help you understand the process and what it might mean for you and your family.

There’s no cure for Loeys-Dietz syndrome, but treatment can help you live a long and full life. An essential part of treatment is monitoring certain body systems over time to catch any problems early.

Depending on how the condition affects you, treatment may include:

• Allergy testing and management of eating issues due to allergies
• Braces, orthotics or surgery for a curved spine, foot deformities or hip dislocations
• Genetic counseling to make sure any affected relatives receive early diagnosis and treatment
• Medications to lower heart rate and blood pressure, lessen strain on the aorta and arteries, and help prevent aneurysm
• Recommendations for lifestyle changes, such as restrictions on exercise
• Regular eye exams, including corrective procedures when necessary
• Regular imaging tests to check the aorta, arteries and spine
• Surgery called aortic root replacement to prevent tears in the aorta

The Penn Medicine network has experts in every medical subspecialty. They work as a team to provide complete care for any effects of Loeys-Dietz syndrome. Our team may include experts in:

• Allergy and immunology
• Cardiovascular surgery
• Inherited cardiac disease
• Gastroenterology
• Medical genetics
• Ophthalmology
• Orthopaedic surgery