NEWPORT BEACH, Calif.—In 2003, Lene and Jim Righeimer suddenly lost their 4-year-old daughter, Rebecca, to an undetected genetic cardiac arrhythmia.
Doctors knew that Rebecca had succumbed to sudden cardiac death (SCD), but they couldn’t pinpoint why at the time.
Lene Righeimer said her husband had sprayed for ants the day before. They thought maybe she had been poisoned, or had otherwise been exposed to something that triggered her heart attack.
An autopsy wasn’t performed, so blood samples weren’t available to test for a genetic issue. Doctors pronounced Rebecca’s death as due to “natural causes,” failing to identify her Long QT syndrome type 1.
Although the guidance came too late for the Righeimer family, the American Academy of Pediatrics on June 21 encouraged doctors to routinely screen children for heart conditions that could lead to sudden death if undetected.
Solving a Mystery
Righeimer, who was pregnant at the time of Rebecca’s death with their now 17-year-old daughter Ellie, knew something wasn’t right. She set out to discover what had happened to Rebecca.
With help from the Sudden Arrythmia Death Syndromes Foundation (SADS), the family reached out to the California State Health Department in Northridge. All babies are pricked on the heel at birth and a small sample is gathered to check for metabolic disorders. California is one of the few states required to keep those screening cards, and Rebecca’s was finally located.
Rebecca’s sample was sent to the Mayo Clinic in Rochester, Minn., to a specific laboratory able to identify Long QT markers and other genetic arrhythmias.
The Righeimers were given a 30 percent chance that anything would be found from the small sample, but they didn’t give up hope.
“Two years later, I got a call that indeed it was Long QT,” Lene said. “There’s about 12 known markers for Long QT syndrome, and fortunately we were able to get a diagnosis, and then we could test the rest of our family for that specific marker, and indeed, I was diagnosed as well as our daughter, Ellie.
“Thank God we were able to figure it out, because otherwise we would have lost Ellie as well.”
Today, Righeimer and her daughter visit the Mayo Clinic annually for checkups.
Thanks to Rebecca’s blood sample, Ellie’s condition was detected early, she was able to undergo a surgical heart procedure, and now manages the condition with a beta-blocker.
“The important aspect of this whole arrhythmia syndrome is that once it’s detected and treated, few patients are lost to it,” Righeimer said.
Righeimer says that nearly 4,000 families a year are devastated by unexplained deaths like what happened to Rebecca.
New Guidelines Call for Screenings
The American Academy of Pediatrics’ new screening guidelines for doctors include a series of specific questions that pediatricians and general practitioners can ask during examinations to help identify potential arrhythmia issues.
“These are questions not asked by pediatricians before,” Righeimer said. “Like if there has been an unexplained death in the family before the age of 15. Or has anyone in the family drowned who otherwise was a good swimmer, or had a traffic accident that couldn’t be explained, or does someone in the family have a pacemaker that is pretty young?”
According to the updated AAP policy statement Sudden Death in the Young: Information for the Primary Care Provider, doctors should incorporate cardiac screening for all young people at least every three years.
“All children should be screened for the risk of cardiac arrest regardless of their athletic status,” the report said.
The policy states that the unexpected death of a seemingly healthy child is a tragedy that could be avoided, but that information about arrhythmia studies is typically published in cardiology journals.
The goal of the policy is to present expanded information to pediatricians and other primary care providers who might not otherwise hear about the new policies that help to identify conditions associated with sudden cardiac arrest or death.
“Today our 17-year-old daughter Ellie is thriving, she lives a full life despite the same genetic Long QT type 1 diagnosis,” Lene said. “Had Rebecca had an EKG, there is almost 100 percent certainty her death wouldn’t have happened.”