About the Cardiovascular Connective Tissue Disorders Clinic

Who we are

The Cardiovascular Connective Tissue Disorders Clinic at Children’s Hospital of Philadelphia (CHOP) is a family-centered, multidisciplinary clinic for individuals and families with connective tissue disorders involving the aorta and blood vessels (arteries) of the body.

Led by Stacey Drant, MD, attending cardiologist in CHOP’s Cardiac Center, the Cardiovascular Connective Tissue Disorders Clinic combines both Cardiology and Genetics expertise, providing genetic testing and counseling, imaging and medical therapy, as well as surgical treatment if necessary. Our in-clinic genetic counselor coordinates genetic testing, provides ongoing support and facilitates connection with additional subspecialties as needed.

Who we treat

Many patients treated in the Cardiovascular Connective Tissues Disorders Clinic have a genetic disorder that affects the body’s connective tissues, such as Marfan Syndrome, Loeys-Dietz Syndrome and specific forms of Ehlers-Danlos Syndrome.

The clinic also treats patients with bicuspid aortic valve and other congenital heart diseases with associated aortic dilations, as well as individuals with a family history of thoracic aortic aneurysm or aortic dissection.

Syndromes known to be associated with aortic involvement:

  • Marfan Syndrome
  • Loeys-Dietz Syndrome
  • Ehlers Danlos Syndrome (vascular, kyphoscoliosis and valvular types)
  • Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) Syndrome
  • Turner Syndrome
  • Bicuspid aortic valve
  • Congenital heart disease associated with enlargement of the aorta
  • Enlargement of the aorta for unknown reasons

What we do

Connective tissue is present in all tissues in the body, forming a scaffold that provides support. Connective tissue in the aorta and arteries provide both strength and flexibility to help the blood circulate through the body. Abnormalities in this connective tissue allow the aorta and blood vessels to enlarge and develop dangerous aneurysms. The Cardiovascular Connective Tissue Disorders team specializes in the diagnosis and treatment of conditions that lead to enlargement and development of aneurysms.

New patients in the Cardiovascular Connective Tissues Disorders Clinic undergo a personalized evaluation based on their needs and past assessments. This often includes evaluation by our geneticist, genetic counselor and pediatric cardiologist. Genetic testing and imaging such as an echocardiogram, CT and MRI, can determine the root of the patient’s symptoms.

Some new patients come to the clinic with a previously confirmed diagnosis or past aortic dissections. For these patients, we provide both second opinions and ongoing care as needed.

Because not all individuals with connective tissue disorders have a clear genetic cause, these patients are followed for further diagnostic testing. Over time, new genetic variants may be identified as pathologic (associated with disease), which has implications not only for a patient’s disease development, but also for future family planning.

For all patients, our team provides preventive medical therapy to slow aortic enlargement and routine imaging to determine if and when surgery is appropriate. Our goal is always to prevent aortic dissection or other complications through medication and accurately timed preventative surgery. Our expertise also includes treatment for any associated abnormalities, including problems with heart valve function and other structural abnormalities of the heart and blood vessels.

In collaboration with the Aortic Center at the Hospital of the University of Pennsylvania, CHOP’s world-leading surgeons in the Division of Cardiothoracic Surgery offer the full spectrum of reparative aortic surgery — from aortic valve repair and valve sparing aortic root replacement (also known as the David V procedure) to total aortic arch replacement and repair of aortic aneurysm and dissection.

Next Steps
Outpatient Appointments
Second Opinions, Referrals and Information About Our Services