Congenital Long QT Syndrome: Millie’s Story
Patient Story Highlights
Everyone wants to have a strong and healthy heart. Carly has one. She’s an active mother of two young children with a full-time job as a registered nurse. But, a genetic disorder called congenital long QT syndrome, could cause her heart rhythm to suddenly change without warning, causing serious medical issues and even death.
“Congenital long QT syndrome is a measurement that tells us is how long it takes the bottom chambers of the heart to receive an electrical signal and then reset,” says Jamie Decker, M.D., a pediatric cardiologist specializing in electrophysiology, cardiac arrhythmias, cardiomyopathies and heart failure at Johns Hopkins All Children’s Hospital in St. Petersburg, Florida. “Normally, for a heart to beat, all the muscle cells get the electrical signal made by specialized heart cells, the heart muscle squeezes and then it resets to receive the next signal. In Carly’s case, what can happen is when an electrical signal comes in, it can cause a lethal arrhythmia from the bottom chambers of the heart because it takes a long time to reset, causing electrical instability.”
One way to diagnose long QT syndrome is through an electrocardiogram (EKG). It records the electrical signal from the heart to check for different heart conditions. “My EKGs have always been borderline, which means it is not normal, nor is it definitely abnormal. The doctors could not figure out exactly why,” Carly says. “I never had any real symptoms.”
So, when she turned 15, in addition to her annual EKGs, she completed a series of genetic tests. That’s when doctors discovered she had the gene that causes congenital long QT syndrome (Type 3). Additional testing confirmed another family member also carried the gene.
Decker immediately started her on a beta blocker, designed to keep her heart rate under control. Beta blockers are typically used to control blood pressure. However, they are also used as the first line of treatment for long QT. Beta blockers slow the response of adrenalin and help prevent the heart from beating too fast, keeping abnormal rhythm issues from happening.
“I was super anxious when I was first diagnosed. I never had to take medication on a daily basis. I didn’t know how it would affect my body,” Carly says.
Carly has always felt a special bond with the hospital that goes beyond the medical care she received. Her grandmother, Audrey Resop, was a long-time hospital volunteer. “Whenever I was at the hospital I would go visit her in the gift shop,” Carly says with a smile. “It was because of her, I became a teen volunteer and a member of the Medical Explorers while I was in high school.”
As a Medical Explorer, Carly got to help move patients to the new All Children’s Hospital in 2011. She also enjoyed being a pretend victim for hospital disaster drills.
“It was an awesome experience,” she says. “I always wanted to be a nurse, but because of these opportunities, it sealed the deal for me. Whenever I’m at the hospital and I pass the gift shop where my grandmother volunteered, I think about her,” Carly says. “I miss her.”
Four years ago, when Carly became pregnant, she was excited about becoming a mom but was concerned about her health. She wondered about passing the long QT gene to her baby. She learned the beta blocker she takes for her heart to function properly can also cause prematurity in babies. The doctors were monitoring her condition and were prepared when little Millie arrived weighing only 4 pounds, 13 ounces. Because her heart rate was dropping, Millie spent the first five days of her life in the neonatal intensive care unit (NICU), which has a Level IV rating, the highest available from the American Academy of Pediatrics.
Decker, the same cardiologist who took care of Carly for so many years, was now caring for Millie. He suspected that Millie carried the gene that causes congenital long QT syndrome, but they couldn’t do any genetic testing until she was 2 months old. Knowing the family background, he started Millie on a beta blocker soon after her birth. Eventually, the tests confirmed it. Millie and her mom had a genetic bond. They both possessed the gene that causes long QT.
“Over the last decade or so, there has been a switch in the pendulum in terms of how we manage these patients,” Decker says. “We used to restrict them from sports and other rigorous activities. Now under medical supervision, as long as her medication is doing what it is supposed to do, we are more lenient on allowing patients with long QT to participate in these activities.”
“The future for Millie (and Carly) is very good. Life expectancy is normal. As long as she is compliant with her medication and has no rhythm issues, I expect her to lead a normal life,” Decker says.
Like her mom, Millie has never experienced any symptoms associated with the long QT syndrome, she takes her medicine faithfully and knows it’s for her heart. “When she gets older, I will explain it to her in more detail,” Carly says.
Today, Millie is an active 3-year-old, busy with dance classes and cheerleading. “She is living her best life,” Carly says.