Ann died five years ago. Long QT syndrome (LQTS) was the killer, a fact that was unknown to us until this year. Had it not been for the persistence of her sister, Mary, the silent killer would have stayed hidden, free to leave a trail of sudden unexplained deaths in our family. The cause of Ann's death was listed as probable cardiac arrhythmia, redundant mitral valve prolapse. "Not so," said the doctor Mary consulted to determine the condition of her heart. A heart which was found to have the same leaky valve problem Ann had. "Healthy young adults don't die from a mitral valve prolapse." The words sounded in Mary's ears as she left the doctor's office. I'm a healthy young adult, she thought, but the thought brought little comfort....

Ann had been a healthy young adult. At thirty, she had just given birth to her third child that she was still nursing when she died. A recent graduate of Florida State University with a Baccalaureate Degree in Nursing, Ann was employed in the newborn nursery at a local hospital. Her other two children, ages 3 and 5, were admittedly a handful. Ann was also an antihistamine junkie, the medication taken for recurring sinus infections and post-nasal drip. It was a fact that later proved to be of grave significance.

About a year after Ann's death, a restless year for Mary because of the many unanswered questions, she chanced to read an article in a popular woman's magazine about the sudden deaths of several young people. Mary recognized the similarity between these deaths and the death of her sister. Chance? Mary did not think so.

The doubts started her on a crusade which is only now showing results. At first, Mary did not seek out any specialist, internist or cardiologist, talking only to those doctors she encountered during the routines of her life - an obstetrician for her third pregnancy and the birth of her third daughter, a pediatrician for her children, a family practice physician for her husband. All listened as she told of Ann's death, described the early morning fainting spells the third from which she never woke, and explained her reliance on over-the-counter antihistamine cold remedies. "Healthy people don't die from mitral valve prolapse." Mary echoed the words of the earlier physician. "If not that, then what? LQTS?"

Her cries fell on deaf ears. Only the stubbornness she had exhibited since childhood stood her in good stead.

Certain that she was right and "they" were wrong, Mary pursued what was then still an illusive diagnosis. That was four years ago. Today LQTS, an abnormal time interval in the heart's rhythm measured on the electrocardiogram (ECG) is known to cause syncope (fainting) and in some instances sudden cardiac death. The ineffectual heartbeat prevents the heart from pumping blood into the lungs where it receives oxygen and out again to nourish the body. Lack of oxygenated blood in the tissues can cause death in a very short time, usually in a matter of minutes.More current research has also shown a link between LQTS and the sudden unexplained death of young adults and infant crib deaths (SIDS).

Scary? Darn right it is. Treatable? You bet your life it is.

Beta blockers, drugs that slow the heart rate and decrease the contractility of the heart, have proved to be effective. The elimination of other drugs, including the antihistamine Ann took to relieve her stuffy head is also recommended, as is the curtailment of exercise. But LQTS cannot be treated unless it is found and identified. A bothersome shortness of breath, later diagnosed as a mild form of asthma, turned out to be the catalyst for Mary. Moving from internist, to pulmonologist, to cardiologist, it was the latter who recognized the long QT interval in Mary's ECG. He in turn sent her to an electrophysiologist, who confirmed the diagnosis of LQTS. At his request, Mary brought along ECG tracings from other family members. This included Ann's records which her husband still had. What the doctor found changed many of our lives.

The diagnosis can usually be made by studying the ECG of persons suspected of having LQTS. In others, especially children, the diagnosis is not as simple. To assist in diagnosing LQTS in young people, a holter monitor (a device worn by the patient for 24 hours that measures the electrical impulses of the heart) and an exercise test might be helpful.

Knowing how to diagnose and treat Long QT is important. Knowing what causes it is just as important. Research has shown LQTS to be either acquired or inherited. As Mary learned, not only did both she and her sister have LQTS, their six children are similarly affected. The abnormal interval was also found in one of Mary's three brothers.

I too have LQTS, but not my mother. Unfortunately, my father died before any testing could be done. Some in the family have been slow to respond. A defense mechanism for the psyche, it is a normal response. Given time they may change. Me? I prefer to fight my battles in the open. If there is a silent killer out there, I want to know about it. Thanks to Mary, we do. ¤