A personalized approach

At your child’s first visit to the Cardiovascular Connective Tissue Disorders Clinic, they will receive a personalized evaluation based on their unique needs and health records. This visit will usually include an evaluation by our geneticist, genetic counselor and pediatric cardiologist. These experts will use genetic testing and advanced imaging (such as an echocardiogram, CT or MRI) to discover the cause of your child’s symptoms.

Since not everyone with connective tissue disorders has a clear genetic cause, these patients are followed for further diagnostic testing. Over time, new genetic variants may be identified that are linked to disease. This could eventually provide critical information about disease development and also impact future family planning.

If your child already has a diagnosis or has experienced an aortic dissection (a tear in the aorta), we can provide second opinions and ongoing care.

Our individualized services include:

• Medical therapy to slow aortic enlargement
• Routine imaging to determine if and when surgery is appropriate
• Treatment for any associated problems, including issues with heart valve function and other structural defects of the heart and blood vessels

If surgery becomes necessary for your child, the world-leading surgeons in our Division of Cardiothoracic Surgery offer the full spectrum of restorative aortic surgery in partnership with the Aortic Center at the Hospital of the University of Pennsylvania.

Multidisciplinary expertise

Ours is one of few programs of its kind to provide care in clinic from both cardiology and genetics specialists. This means your family won’t need to schedule multiple appointments for routine follow-up visits.

Because many people with connective tissue disorder also have other related medical conditions, we partner with multiple specialties across Children's Hospital of Philadelphia (CHOP) and the Hospital of the University of Pennsylvania (HUP) to meet your child’s complex needs. These specialties include:

• Division of Ophthalmology
• Orthopedics Center
• Division of Allergy and Immunology
• Division of Gastroenterology, Hepatology and Nutrition
• Division of Pediatric Cardiothoracic Surgery
• Vascular Surgery and Endovascular Therapy at HUP
• Aortic Center at HUP
• Philadelphia Adult Congenital Heart Center
• Division of Otolaryngology
• Division of Neurology
• Division of Plastic, Reconstructive and Oral Surgery
• Division of Neurosurgery

Integrative, holistic care

We believe that the best cardiovascular connective tissue disorders program takes a holistic approach, caring for the whole child. Our unique Lifestyle Medicine Program aims to improve our patients’ health, enhance their quality of life and potentially delay the need for surgery.

Our Lifestyle Medicine Program is based on the six pillars of Lifestyle Medicine, which include nutrition, physical activity, sleep, stress reduction, emotional connectedness and avoiding risky substances.

Science supports the impact of these six areas on vascular function, emotional well-being and disease severity. Through our Lifestyle Medicine Program, your child will have the support of a nutritionist, exercise physiologist, psychologist and health coach. This team will help your child set — and achieve — their personal health goals.

If financial resources are limited, our health coach can also help identify and connect your family with local, affordable services — like community partnerships and supplemental nutrition programs.