August 17, 1998
The silent killer
by Deborah Stone
An eighteen year old woman working out in a health club collapses and dies. A twelve-year-old girl running with her track team goes into cardiac arrest. She is revived, but suffers permanent brain damage. A twenty-year-old man in excellent shape dies in his sleep while on a camping trip.
In each of these cases, a silent killer is responsible for the tragedy. It lives hidden in the genetic make-up of some families, many of whom are not even aware of its existence. Killing without warning, it is often undetectable until after it has done its deadly work.
This little known syndrome is a heart rhythm disorder called Long QT Syndrome. It is an electrical malfunction of the heart, characterized by the heart's inability to repolarize for the next beat when a high heart rate and adrenaline rush occur at the same time.
The cycle of a heartbeat from beat through recovery to the next beat is divided into segments identified by medical researchers with the letters of the alphabet. With Long QT, the recovery period between beats is abnormally extended. If an individual with this syndrome experiences sudden stress of some kind, occasionally the heart is stimulated to begin a beat during this extended recovery period. As a result, the heart loses its rhythm and stops, often with tragic consequences.
Only recently has Long QT come to the attention of medical researchers and the general public. If Lisa Machotka of Woodinville had her way, the whole world would become aware of Long QT. Machotka is the adoptive mother of nine year old Katie and eleven year old Matt, sister and brother who found their mother dead in bed one early morning five years ago. Their mother, Missy Machotka, had Long QT, and her heart suddenly stopped while she was sleeping, one month before her thirtieth birthday.
"What is so tragic about Missy's death is that it could have been avoided," says Lisa Machotka. As a child, Missy's heart condition had been misdiagnosed for years as panic attacks. As an adult, she was diagnosed, only by accident, after her husband, who then worked for Physio Control, brought home a defibrillator to show his family.
When he hooked Missy to the monitor he thought that something in her heart rhythm did not look right, and so he brought the strip into work for the physician's assistant to see. That led them to a cardiologist and more testing.
"When Missy was diagnosed with Long QT, she was put on beta-blocker medications to blunt the effects of the adrenaline on the heart," explains Lisa. "Missy had been experiencing some depression with the meds and when she went to see a doctor (the doctor whom she first saw was no longer with the practice), he said she didn't need the medication and took her off it, prescribing Xanax, a tranquilizer for 'panic attacks' instead.
Missy died just a few months later in her sleep. I strongly feel that if Missy had really been made to understand the seriousness of Long QT and the medical community had been more aware of it, then she would still be alive today."
Long QT is frequently mis-diagnosed and it can be a-symptomatic. Someone can have Long QT without experiencing any symptoms. Others may have seizure-like episodes or fainting spells. "So many times, if a child has what appears to be a seizure, an EEG is done for the brain," says Machotka. "If it is Long QT, it will not show up on an EEG. An EKG is what is needed. And the next time may be too late."
This disorder usually is inherited, but it can be acquired by taking certain medications or by exposure to pesticides and chemicals. If one carries the Long QT gene, he/she has a fifty percent chance of passing the gene on to his/her children. An individual may be a carrier but not have the disease. Currently, approximately one in five thousand people have Long QT.
One year ago, Katie Machotka was diagnosed with the disease. "In looking over Katie's history, she was symptomatic at the age of two," states Lisa. "She had some seizures, but nothing was ever found to be causing them at that time, and the doctors never thought to do tests on her heart."
Since her diagnosis, Katie has been placed on beta-blockers, which help to regulate her heart.
Her restrictions include no scary rides at amusement parks, no competitive sports and a list of medications she cannot use.
"I'm sure for Katie there is some fear, but she doesn't talk about it much," says Machotka. "She is closed about things and not verbal in expressing her feelings. Her brother Matt and sister Kristin are more outwardly concerned about her and remind her to take her meds each day. We try to reassure her, and doctors have even told her that it is very likely a cure will be found for Long QT in her lifetime, but we still live in a great deal of fear. Our family, after all, has seen the worst happen."
Meanwhile, Machotka volunteers for the CARE Foundation (Cardiac Arrhythmia's Research and Education Foundation) and facilitates an on-line support group for parents and children with Long QT. She tries to spread awareness so that others will not be taken by surprise by this hidden killer.
For more information about Long QT Syndrome contact the CARE Foundation at 1-800-404-9500.