Hypertension and Williams Syndrome: Harold’s Story

Harold was born a month before his due date. His mother, Karen, was induced to deliver when her unborn child was found to be losing weight. At birth, Harold was found to have a heart murmur, but no health issues serious enough to require treatment. At home, though, he was not a healthy or happy baby. “He cried all the time, and couldn’t sleep,” remembers Karen.

Diagnosis with Williams syndrome

Harold’s pediatrician referred Karen to a cardiologist at Children’s Hospital of Philadelphia (CHOP) for evaluation of the heart murmur. The cardiologist noticed characteristics of a syndrome and brought in a genetic specialist. A blood test confirmed that Harold had Williams syndrome.

Williams syndrome is a developmental disorder caused by the deletion of a set of genes from a particular region of chromosome 7. The genetic defect is not inherited, but occurs spontaneously, affecting an estimated 1 in 7,500 to 10,000 people. People with Williams syndrome have a cluster of characteristics, including distinctive facial features; outgoing, engaging personalities (often with some wariness or caution when dealing with strangers); learning difficulties and cognitive disabilities; and heart and vascular problems.

Harold was found to have a narrowing in his aorta, known as supravalvular aortic stenosis, a condition common in people with Williams syndrome. At the age of 7 months, he had surgery at CHOP to correct this, a procedure that widened the aorta.

“After that, he was good for a long time,” says Karen. “He had developmental delays, and needed therapy. When he was old enough for school he attended a special program. But he was healthy and happy. He was a very social child.”

“He was tired all the time”

Karen noticed a change when Harold was 13. “He was tired all the time. He was falling asleep in class, falling asleep on the bus on the way home, and he looked pale,” she remembers. His blood pressure was increased.

She brought him to CHOP, where he was seen by Kevin Meyers, MBBCh, Assistant Chief of the Division of Nephrology. Dr. Meyers diagnosed Harold’s problem as a narrowing of the arteries going to his kidneys (renal artery stenosis). The blood supply to both kidneys had become so impaired that they were barely functional.

The renal artery stenosis, like the earlier problem with the narrowing of his aorta, was related to Williams syndrome, which causes arteries to be less elastic and can cause them to constrict.

Treatment for hypertension

Again, Harold had surgery at CHOP to widen his narrowed arteries. The procedure worked to restore the blood flow to his kidneys, but his recovery was complicated by continued high blood pressure (hypertension).

Harold was in the hospital for a week as his medical team worked to find a medication and adjust the dose to bring his hypertension under control. Relief finally came when he was put on a beta blocker, labetalol.

Once the medication was found and the dose adjusted to bring his blood pressure down, Harold was cleared to go home. That was five years ago, and his hypertension has been controlled with labetalol ever since.

Harold returns to CHOP for annual visits with the medical team at the Hypertension and Vascular Evaluation (HAVE) Program, a collaboration between the Division of Nephrology and the Cardiac Center, which specializes in managing hypertension in children and young adults. Dr. Meyers is Co-director of the program along with Shobha Natarajan, MD, an attending cardiologist with the Cardiac Center, who follows Harold’s corrected supravalvular aortic narrowing.

The HAVE Program is a way for Harold to have a comprehensive evaluation of all his issues, both cardiac and renal, and the underlying aortopathy that is associated with Williams syndrome. It is this underlying aortopathy that puts patients with Williams syndrome at higher risk for hypertension.

A healthy and social young man

Now 18, Harold is a healthy and social young man. He loves listening to music and playing the piano, riding his bike and his scooter, and talking endlessly about football.

Harold participates in the Special Olympics, with special strengths in bowling and sprint events. When the family goes bowling, Harold always beats his parents and his three younger siblings.

At school, he is part of a life skills program, where he studies academic subjects in the morning, then gets experience working at different job sites in the afternoon. His favorite jobs are ones where he has opportunities to talk with customers.

Karen appreciates all that CHOP has done for Harold. “I love that hospital,” she says. “CHOP was one of the few places that knew what Williams syndrome was back then.”

“They have been there for us every step of the way. We feel so lucky to have had them..”