Conditions and Treatments

Stanford Medicine Children’s Health's Connective Tissue Disorders Program is one of the few multidisciplinary, comprehensive centers in the world that treats highly complex connective tissue disorders and related conditions in children. We often can help parents who have been told that their child’s needs are too complex, giving them hope that their child’s chance of survival can improve.

We can treat the full spectrum of your child’s unique genetic expression of connective tissue disorder. No two children are exactly alike. For example, with Williams syndrome, only about one-third of children will need a surgery to repair their heart or arteries. Whatever your child’s needs are, we provide well-rounded care to improve health and save lives. Because our knowledge goes well beyond general pediatric cardiology, we are able to identify and treat unique manifestations of connective tissue disorders. Due to the volume of children with connective tissue disorders that we see, our expert team often makes new discoveries that help advance care and treatments.

Conditions we treat

We treat the following connective tissue disorders:

• Marfan syndrome
• Williams syndrome
• Loeys-Dietz syndrome
• Vascular Ehlers-Danlos syndrome (VEDS)
• Familial thoracic aortic aneurysm and dissection syndrome
• Arterial tortuosity syndrome
• Non-syndromic supravalvar aortic stenosis/elastin arteriopathy syndrome
• 23 duplication syndrome
• Myhre syndrome

Diagnosing connective tissue disorders

Connective tissue disorders often require a genetic test for diagnosis, as all involve a missing gene or part of a gene or genes that play a vital role in creating connective tissue within the body. We diagnose not only connective tissue disorders but also other disorders or conditions that mimic them.

How we treat your child’s connective tissue disorder

Treatment options for cardiovascular needs range from medication and heart catheterization to more complex therapies like heart surgery, including pulmonary artery reconstruction and heart transplant. Once your child receives care at Stanford Medicine Children’s Health, we are committed to partnering with you and your hometown cardiologist as your child grows.

• Medicines. We often use medicines as our first step to control symptoms and improve how a child’s heart functions. For example, with Marfan and Loeys-Dietz syndromes, we use medicines to slow down the growth of the aorta, which can otherwise grow too large. In vascular Ehlers-Danlos syndrome, we give medicine to keep arteries strong so they can resist tearing.
• Heart catheterization. If your child’s connective tissue disorder involves the heart or arteries, we may perform an interventional heart catheterization that lets us look inside your child’s heart. The procedure is minimally invasive, meaning that very small incisions allow doctors to insert a thin flexible tube, or catheter, into the vessel and then use dye and x-rays to examine the tissues of the heart and arteries. A heart catheter allows our doctors to gather several details about how your child’s heart is functioning, including how well the heart pumps blood, stores oxygen, manages blood pressure, and regulates electrical pulses.
• Heart surgery and heart transplants. Children with connective tissue disorders may require a variety of different heart surgeries. At Stanford Children’s Health, we are renowned leaders in cardiovascular surgery and heart transplant for children.

Our skilled pediatric heart surgeons perform more surgeries than are done at many of our peer hospitals (700+ annually) and are sometimes the only specialists in the world who can perform a complex heart surgery, even when you have been told it is not possible elsewhere. For example, some connective tissue disorders affect the pulmonary arteries that connect the heart to the lungs, requiring pulmonary artery reconstruction.

Our Pulmonary Artery Reconstruction (PAR) program is the top program in the world for pulmonary artery reconstruction, famous for a novel, highly complex surgical technique called unifocalization, developed and pioneered by our Heart Center director, Frank L. Hanley, MD. Pediatric patients from all over the nation and world travel to Stanford Medicine Children’s Health to receive this lifesaving surgery from Dr. Hanley. Unifocalization strengthens and replaces pulmonary arteries, even deep in the lungs.

We also work closely with the Pediatric Advanced Cardiac Therapies (PACT) team to treat children with heart failure, including those who need a ventricular assist device (VAD) to sustain them as they await heart transplantation. Our pediatric heart transplant numbers are the highest in California, and our long-term results for complicated heart transplants are outstanding, better than the national average.