When my younger sister was 18, she started passing out in her dorm room at the University of Colorado Boulder. By the time I passed out in a parking lot a year and a half later — at age 24 — we knew a genetic heart rhythm disorder called Long QT syndrome (Type 2) was the culprit. An electrical abnormality that made our hearts quiver instead of pumping. Long QT could have caused us both to die of cardiac arrest.
My sister and I were lucky; our hearts resumed a normal rhythm soon enough that we survived. But for too many families, the sudden death of a young person gives their first suspicion that a genetic heart disease runs in the family. Researchers estimate that more than 7,000 young people die of sudden cardiac death each year. Regular screenings by pediatricians — regardless of a young person’s athletic status — could change this.
In late June, the American Academy of Pediatrics published a new set of guidelines in the journal Pediatrics calling for all children to be screened for heart-related problems as they enter high school, regardless of athletic status. The questions are simple and ask about exercise-related chest pain, shortness of breath, unexpected fainting, and family history. And they are absolutely essential.
While no set of screening questions will catch all heart disease, it’s easier to spot patterns if we’re trained to look for them. A “bad luck” family history of sudden drownings and unexplained car accidents may indicate a genetic arrhythmia.
For example, my great-great-grandmother died at age 20 in 1899 in the months after she gave birth—a story we didn’t become aware of until my sister was diagnosed, but it fits the Long QT profile. Studies have shown that women with Long QT syndrome (type 2) have an increased risk of cardiac arrest during the first nine months after childbirth.
As a child I felt chest pains, but I told myself that bodies were just weird. When my heart started beating in my early twenties, I attributed it to anxiety or tried “food cleanses” to identify food allergies. When my sister first passed out, doctors examined if she was having seizures and asked about her alcohol consumption—missing the fact that the sudden ringing of her roommate’s alarm clock had triggered several of her strange fainting spells.
Before I woke up in that parking lot with gravel in my forehead, I’d never had an electrocardiogram. But once I did, the electrical abnormality in my heart was immediately apparent. Screening questions at a regular checkup, which in my case would probably have led to an EKG, could have speeded up our family diagnosis.
It is rare for those of us who know we have sudden arrhythmia death syndrome to die as a result. A diagnosis leads to treatments that significantly alter a child’s risk of sudden death.
Both my sister and I — and, after genetic testing, my father — started taking beta-blockers to manage our condition (although I’ve since stopped this treatment due to unbearable side effects). These highly effective drugs limit the release of stress hormones in the body that can make our hearts erratic. We follow a list of “medications to avoid”, abstain from certain adrenaline-filled activities and exercises, and have changed the style of the alarm clocks we use, since a long QT (type 2) is often caused by the startle response.
When I make decisions that may increase my risk of cardiac arrest, I do so consciously — and I can communicate my situation to those around me.
While implanting a defibrillator isn’t the right solution for every patient, both my sister and I carry these potentially life-saving devices in our chests. Because of the new screening guidelines, other families can gain the life-saving knowledge that would inspire them to become activists by ensuring the presence of automated external defibrillators in schools and at sporting events, in case someone needs to be resuscitated.
My sister and I were lucky. She never went into cardiac arrest during a high school swimming competition. I never passed out on a backpacking trip many miles away from medical care. All too often we hear the heartbreaking stories of high school students collapsing on the field and gone. Too many families have lost one or more children because the first symptom they notice is cardiac arrest — and then it’s too late. Following the new guidelines could help prevent those deaths.
Katherine E. Standefer is the author of “Lightning Flowers: My Journey to Uncover the Cost of Saving a Life.”