Sudden Arrhythmias Death Syndromes (SADS) Foundation: Saving Lives Everyday

Actually, inherited LQTS is still often undiagnosed and untreated, so the affected persons remain at risk for syncope and sudden death. Since inherited LQTS is a very treatable disorder, SADS believes it is important that both medical professionals and the public be informed about this condition and its treatment options. In addition, SADS is dedicated to educating others about the many commonly used prescription medications which cause medication-induced LQTS. Long QT Syndrome is estimated to afflict 1 in 5,000 people in the U.S. (over 50,000 people), and may cause as many as 3,000 deaths (mostly in children and young adults) each year. The foundation is based in Salt Lake City, Utah. Background. Long QT Syndrome (LQTS) was first described in Europe, almost fifty years ago. At the time, specialists weren't looking for an abnormally long interval between the Q and T waves on an electrocardiogram. They suspected, but didn't recognize an irregularity in the heart s rhythm. For years, doctors had no idea why certain families were haunted by recurring incidents of sudden cardiac death. Dr. Michael Vincent, a cardiologist in Salt Lake City, became increasingly interested in what he termed this heart disorder that left no trace. Seemingly healthy people were dying without warning, and more seriously, without symptoms doctors could diagnose. Early case histories indicated a hereditary component in the mysterious syndrome, but it took Dr. Vincent and researchers more than ten years to complete the family pedigree and develop techniques which confirmed the genetic basis of the disease. Between 1973 and 1988, Vincent diagnosed more than 150 descendants of two Danish brothers with Long QT Syndrome, saving many lives along the way. Fifteen years into the quest to better understand this disorder, researchers were ready to locate the culprit gene. Two molecular geneticists at the University of Utah began the hunt, which was later headed by Dr. Mark Keating. He meticulously read magnified images of patient's DNA, searching for the allelic pattern unique to Long QT carriers.

The Breakthrough

After more than a year of comparing millions of DNA fragments, Dr. Keating found the distinctive marker he was looking for. It revealed the first chromosomal location of an affected gene, and proved conclusively that Long QT syndrome was hereditary. In 1991, the breakthrough was published in Science, as well as national and international medical journals. Dr. Vincent and his colleagues knew it was important to disseminate this life-saving information as quickly as possible. They wanted to reach not only leading scientists, researchers, and heart specialists, but also primary care physicians, school nurses, parents and children everywhere. In 1991, the Sudden Arrhythmias Death Syndromes (SADS) Foundation was established as a nonprofit organization. Its mission was conceived as, and remains, to save the lives of children and others who are predisposed, or otherwise susceptible to sudden death due to cardiac arrhythmias. We provide education and support to both families and physicians dealing with these disorders. So much has been accomplished in the last eleven years. Hundreds of volunteers around the country work tirelessly to promote awareness about the dangers, symptoms and treatment of Long QT syndrome and other congenital arrhythmias. We've referred thousands of patients to genetic laboratories and continually provide physician referrals to people who need the help of a specialist. Significant advances have been made. In 1992, approximately 75% of calls to SADS concerned the death of a young person with LQTS. Today, roughly 5% of the calls we receive report the sudden death of a Long QT patient. As understanding has grown in this country, interest and engagement have increased around the world. Committed patients and families have formed affiliate organizations in England, Canada and Australia. We find people everywhere are touched by the unexpected, often frightening risks of this syndrome. At the same time, they are inspired by the difference they make involving their own communities in our cause. Many lives have been touched and saved.

Upcoming Events

This fall, the SADS Foundation is expanding our awareness program with the largest international outreach effort to date. In partnership with SADS UK, we are presenting a CME-certified conference titled Unexpected Deaths in the Young: A Focus on the Genetic Causes of Arrhythmias, Syncope and Sudden Death. As researchers have continued their work with the many mutations, and now five known genes responsible for Long QT syndrome, information about the mechanisms of heart rhythm disturbances has increased. Other similar disorders have been identified, including Brugada syndrome, Idiopathic Ventricular Fibrillation, Idiopathic Conduction System disease and Catacholaminergic Ventricular Tachycardia. While the genetics of these conditions are clarified, the symptoms and signs are becoming more defined. These subjects will be addressed by some of the world s foremost cardiac authorities. In addition to congenital and electrical system conditions, genetic heart muscle disorders will also be discussed in detail. While these can be more easily detected by physicians than some of the electrical diseases, they too are often subtle and require careful investigation. The conference will be held on October 12th and 13th at the Royal College of Physicians in London, England. It includes both scientific and public sessions. Pediatricians, GPs, internists and primary care physicians are especially encouraged to attend because they are the first line of care for the majority of patients.

The Future

As the SADS Foundation matures, drawing on increased talents and resources, even greater things will be accomplished. Our success so far is the result of thousands of individuals and families who share their stories and strength. We owe a great deal to the progress of researchers and scientific advisors who contribute their drive and expertise, as well as the many cardiologists and electrophysiologists we are partnered with. Together we work toward the time when lives won't be lost to these treatable conditions.