Emilie’s story: Why parents must know about Long QT Syndrome

Each year an estimated 325,000 people in the U.S. die from sudden cardiac arrest (SCA). The Heart Rhythm Society estimates that about 7,000 of these deaths are children and infants. In 1997, Christine Puricelli of Chandler, Arizona, lost her 22-year-old daughter Emilie to SCA caused by a genetic condition called Long QT Syndrome. The warning signs of Long QT Syndrome were there, but doctors didn’t recognize them. Here is Emilie’s story in Christine’s words.

On August 30th, 1997, my seemingly healthy 22 -year-old daughter, Emilie, died suddenly in her sleep from sudden cardiac arrest (SCA).

How could a beautiful, healthy young woman just go to bed and die in such a mysterious manner? It’s an understatement to say we were in shock, or grief-stricken. Losing a child was the hardest thing I’ve ever faced.

An autopsy showed only “Acute Cardiac Arrhythmia.” Emilie’s toxicology report was totally negative and the Medical Examiner offered our family no other information about the cause of death. We had only a few clues. On Emilie’s second day of life she had been observed having a “seizure,” and a nurse told us she appeared somewhat “blue.” She was treated with no further problems or explanation.

Starting in grade school, Emilie “fainted” 3 or 4 times. Around 9th grade, she began describing her heart as feeling like it was “going crazy” during intense basketball workouts. She also had no tolerance for caffeine. Again, she felt it made her heart beat irregularly.

Emilie saw cardiologists. Her tests were interpreted as normal. The cardiologist’s explanation was that she was tall and thin, and that she was just feeling irregular heartbeats that we all have at times (but which are not clinically significant and which we may not feel).

Unfortunately, we accepted this diagnosis. We now know that she should have seen a paediatric cardiologist, even in 9th grade.

After Emilie’s death, we pursued an explanation with cardiac researchers and finally learned that the QT Interval on her ECG was “prolonged.” The QT Interval is the time needed for the heart to re-polarize (or recharge) between beats. A Long QT Interval may cause the heart to fibrillate (or quiver) and not pump blood effectively.

We also learned that genetic testing was available. Our immediate family was tested for Long QT Syndrome. We learned that my husband and I both have a gene for an electrical conduction defect in the heart that is associated with Long QT Syndrome. My two living children, now ages 33 and 31, also tested positive for this gene.

What is Long QT Syndrome?

We have since learned that Congenital Long QT Syndrome is a very treatable cardiac condition. Depending on the severity and the type of Long QT Syndrome, there are treatment options:

  • Beta blocker drugs
  • Implanting an ICD (implantable cardiac defibrillator) as needed

When a family knows they have Congenital Long QT Syndrome, very simple measures can help keep the person with the gene and symptoms at lower risk:

  • Avoid drugs known to prolong the QT Interval (this list can be found at www.qtdrugs.org)
  • At the dentist, ask for a local anesthesia with fewer cardiac effects.
  • Avoid situations that would deliberately stimulate an adrenalin surge, such as intense physical and competitive sports, scary rides at theme parks, haunted houses, alarm clocks, and so forth. Exercise should follow specific guidelines from the cardiologist or electrophysiologist.

What to do when sudden cardiac arrest occurs

Sudden cardiac arrest in youth is not a rare occurrence. SCA is the leading cause of death on school property, affecting not only children, but also teachers, administrators, parents and visitors. SCA happens to thousands of kids each year — on the football field, on the soccer field, in the classroom, and in their sleep.

Communities can be prepared by having an automated external defibrillator (AED) available where youth congregate and by encouraging AED and CPR training. Facilities with AEDs should have emergency plans in place for what to do if someone suffers sudden cardiac arrest. There is a short critical window of time in which an SCA victim can be saved; chances of survival decrease by about 10 percent with every minute that passes.

Know the chain of survival:

  • Recognition of the signs of sudden cardiac arrest — the person may be collapsed and unresponsive, be gasping or gurgling, or showing seizure-like activity
  • Immediate call 999
  • Perform CPR
  • Use of an AED as soon as possible
  • Early care from the emergency services

How To Take Action

For additional information of other congenital heart conditions in children and young adults that can cause SCA, the symptoms they may cause, and recommended treatments, visit the Cardiac Science Education Hub for guides, facts and studies.

Posted on June 3, 2011