As a little girl, Kristen Cline fainted unexpectedly several times, including three times while swimming, resulting in near-drownings. Doctors toyed with the idea she had seizures of some type.
Her cousin, a healthy man in his 20s, never fainted, as far as his family knew. But one night, rocking his new baby to sleep, he died — the victim of a deadly but treatable genetic syndrome whose first symptom, unfortunately, may be unexpected and unexplained death.
Called Long QT, it's a genetic abnormality that's part of the package someone may carry at birth. Symptoms, if they appear at all, most often occur during childhood and young adulthood. The most common is a sudden fainting spell that doesn't have common precursors like "feeling faint," nausea or pain.
It usually happens during exercise or physical activity, although it occurs sometimes when someone sleeps and less commonly at rest, said Dr. Michael Vincent, chairman of the department of medicine at LDS Hospital and a professor of medicine at the University of Utah School of Medicine.
Penny and Rich Cline discovered that Kristen, now 14, had the syndrome almost by accident. When their nephew died, they donated money to the Sudden Arrhythmia Death Syndromes Foundation and attended a social gathering where they met Vincent. He suggested their daughter have an electrocardiogram (ECG).
The condition doesn't show up on autopsy, "which is in itself a clue," Vincent said. The unexplained nature of sudden death usually means a heart-rhythm abnormality. "It suggests the disease but does not make the diagnosis."
That doesn't preclude making a diagnosis. Because it's a genetic disease, carried in families, when someone dies unexpectedly that way, an ECG from close relatives like parents and siblings can be used to detect the problem and the likelihood it caused the sudden death, he said. Those relatives need to seek treatment immediately. Half of them will never have symptoms at all, but they can pass it on to their children, who might. In this case, knowledge is literally life.
Long QT occurs in one of 5,000 people, so it's "not common, but it's far from rare," Vincent said, noting that as many as 3,000 people in the United States — usually children and young adults — die each year.
The genetic disorder affects the heart's electrical system but doesn't affect the body in any other way. The individual looks and feels fine except that there are intervals when the heart rhythm becomes very abnormal.
It shows up on the ECG as a prolonged time interval called a QT. Even when a person is not fainting, the QT interval is "prolonged persistently." Occasionally, the QT interval isn't very prolonged and it requires careful evaluation of the patient, Vincent said.
Long QT is controlled usually by beta blockers, which are also used for high blood pressure, to control rhythm and to treat heart disease. It's very effective with Long QT Syndrome, though occasionally beta blockers alone won't do the job. In that case, doctors may implant a defibrillator or a pacemaker, but that's not done most of the time because medication usually handles it.
"Since it's genetic," Vincent said, "once an individual is found to have it, relatives need to be screened because others in the family will have it: parents, their brothers and sisters, cousins, others. It's very important to screen the family to ID other affected family members so they can be treated before a sudden death occurs."
When Kristen was diagnosed, the Clines learned that Penny's QT interval was "borderline" abnormally long. It had passed to their daughter through her genetic makeup. Their other three children are screened on a regular basis, though the syndrome has not shown up.
It's not unusual to find the syndrome scattered throughout an extended family, researchers say. They cite one Utah family where a mother went into cardiac arrest and was resuscitated. Testing also found the syndrome in her mother, her brother and sister, several cousins and one of her two sons.
Part of the challenge for doctors who work with the syndrome is educating not only other doctors and the public but medical examiners, too. If an autopsy can't find a cause of death, more and more medical examiners are suggesting that family members get checked for the condition.
"We're fortunate," said Penny Cline. "If we hadn't heard of Dr. Vincent's medical research, we would never have gone back in and our daughter might not be alive today."
Doctors put her on beta blockers. She had been active in all kinds of sports and in the drill team. She had to give those things up. Instead, she decided to pursue music and has been in the International Children's Choir for five years. Singing has taken her across the globe to Israel, Jordan and the Czech Republic. She's sung for world leaders and global citizens, something that probably would not have otherwise happened.
Recently, she went to an American Heart Association camp for children with heart disorders, including children with Long QT.
As long as she takes her medication, her prognosis is excellent.
Next week, the Sudden Arrhythmia Death Syndromes Foundation is sponsoring an international Long QT Syndrome awareness week, hoping to educate the public about the symptoms, the treatment and the direct familial link.
For more information on Long QT, call the SADS Foundation at 801-531-0937 or 1-800-786-7723. Information's available online at www.sads.org.