Genetic mutation at the heart of 4-year-old Portland boy’s condition

At just five days old and much to his parents’ surprise, Cooper Elliott of Portland was diagnosed with a congenital heart defect called coarctation of the aorta.

In this condition, the aorta (main artery that carries blood from the heart to the body) is narrowed or constricted. This narrowing affects blood flow where the arteries branch out to carry blood along separate vessels to the upper and lower parts of the body. This can cause high blood pressure or heart damage.

His mother, Amy, didn’t know he had a heart condition when she was pregnant. However, shortly after he was born, she knew something was wrong. Being born close to Christmas with less hospital staffing, they waited three days to see a pediatrician for him to be examined more thoroughly.  Amy recalls that Christmas being different than any other as they worried for their newborn son.

A strong heart murmur was detected, but his parents were told to bring him home and to keep a close eye on him until he could see a cardiologist. Two days after returning home, they saw a cardiologist for the first time and an echo revealed abnormalities.  They were told to come back in a week.  At that returning visit, Cooper was swiftly sent to Boston Children’s Hospital for surgery.

Cooper underwent his first heart surgery at 12 days old to remove a section of his aorta that was too narrow. According to the American Heart Association, usually no symptoms exist at birth for this condition, but they can develop as early as the first week after birth. A baby may develop congestive heart failure or high blood pressure.

After the surgery they thought the worst was over, but Cooper was taken by emergency ambulance from his routine two-week post-op appointment where the family was told that the coarctation was back and his aorta was even narrower than before.  His blood pressure below the narrowing was an incredibly low 30/26.

In Boston, Cooper got a cardiac catheterization where they placed two stents in his descending aorta to help keep the artery from narrowing yet again.  The procedure also revealed that long stretches of his arteries were narrower than expected and the medical team started suspecting something larger at play.

“Due to Cooper’s lack of apparent symptoms, all the uncertainty surrounding us during those days was hard for our family.  We would see a smiling baby, yet always wonder what was going on inside him that we couldn’t see” said his mother, Amy. “We were so grateful to have an amazing support system around us and incredible doctors who gave us confidence we were doing all the right things.”

Shortly after getting back home, geneticists found that Cooper has a genetic mutation that makes his artery walls different than other kids, and the narrowing kept coming back, growing through the stents. He went on to have three more cardiac interventions in his first 18 months of life to keep expanding that portion of his artery as there were many times where they couldn’t feel a pulse in his feet. He now has three stents in his aortic arch that help keep his blood pumping.

Based on family history, the care team thought that the genetic mutation that caused Cooper’s condition was hereditary, so the geneticists tested other key family members.  Through that process, the family found out that Amy and her aunt have the same genetic mutation, and that aunt’s son died in 1980s with a similar condition called supravalvular aortic stenosis (SVAS). The three of them were the only ones in the genetic database with this exact mutation, and none of the parents had serious heart defects of their own.  Since that finding, Amy’s sister had a baby with aortic stenosis and was found to have the same genetic mutation as well.

His mother is happy to report that Cooper has gone three years without any surgery or cardiac catheterizations.  “We are so excited to see him growing so normally,“  said Amy. “We know he is special and unique, and will need procedures to enlarge his stents as he grows.  There is also the potential for his artery walls to start growing through the stents like they did when he was young, but we are very hopeful. He takes aspirin every morning to help his blood flow through the stents and takes medicine to keep his blood pressure in a healthy range. We check his blood pressure weekly and have a great team of doctors, each of whom he sees every four months to monitor his progress.”

Cooper tells it best, how he is doing now: “I love to go to the beach and play in the water and look for treasures!  I’m so excited to be in school this year and make new friends! I love to play outside – riding my scooter, biking, and swimming are all good for my heart,” said Cooper. “I am so excited to be able to run and play any sport in school! I want other kids that have heart disease to be able to get really good help like I have!”

For science-backed resources about congenital heart defects, visit: