Ruth Pontera A story about a heart rhythm disorderWhen Ruth Pontera had her first fainting spell, she never suspected that she was going to have a remarkable impact on people around the world. Ruth was about 40 years old at the time. She was at a company party and had just been asked to dance when she fainted to the ground. She regained consciousness on her own. A few days later, she visited her physician, Dr. John Bowen. He found no immediate cause for concern and sent her home. Ruth’s second fainting spell happened in a bowling alley. “A nurse was there, and she hit me on the chest,” Ruth recalls. “I always seemed to be around the right people when these things happened!” Ruth was taken to the emergency room at F.F. Thompson Hospital in Canandaigua. Dr. Bowen performed an EKG, a test that shows the heart’s electrical activity. He noticed a slight abnormality and decided to call Dr. Arthur Moss at the University of Rochester Medical Center. At the time, Dr. Moss was a relatively new cardiologist at URMC. But Dr. Bowen had taken note of the young doctor after reading an article about Dr. Moss’s work in electrophysiology. After a short talk, they agreed that Ruth should see Dr. Moss. A few days later, Dr. Bowen called Ruth to let her know. A few seconds into the conversation, she fainted again. Ruth’s daughter, Susan—just 10 years old at the time—ran next door to get the neighbors who drove Ruth to Thompson. She was there about a week, during which time she was put on a medication to try to control her fainting spells. But within weeks, Ruth had another fainting spell—in a bowling alley, once again. Ruth was taken to Thompson Hospital, but her husband, Frank, arrived and decided to drive her right to Strong. “I actually passed the ambulance on my way to pick her up,” says Frank. “I didn’t realize she was in it!” Soon after Ruth arrived at Strong, she went into cardiac arrest. A shock was delivered to restart her heart, saving her life. A Longer than Average Electrical Interval Ruth would end up staying at Strong Memorial Hospital for 30 days, during which time Dr. Moss performed numerous tests. He was trying to determine what was causing the strange pattern in Ruth’s EKG. One part of her heart’s electrical pattern, the QT interval, was longer than normal. Those tests revealed something remarkable about the signals that were traveling from Ruth’s brain to her heart. When impulses from one side of Ruth’s brain were blocked, her EKG continued to show the irregular patterns. But when the impulses from the other side of Ruth’s brain were blocked, her EKG became normal. Dr. Moss surmised that if the impulses from one side of Ruth’s brain to her heart could be blocked permanently, then her heart’s electrical problems would be solved. This could be achieved by severing the nerves, a procedure that had only been tested on dalmatians at the time. Ruth and her husband, Frank, decided that this procedure was their best, and perhaps only, option. “You just never knew when it might happen,” Ruth says of her fainting spells. Faced with the prospect of cardiac arrest at any time, they made the decision go ahead with the surgery. Ruth had her nerves severed in an operation performed by neurosurgeon Dr. Joe McDonald in collaboration with Dr. Moss. She would be the first human to have this surgery for the treatment of her disorder, called long QT syndrome. “Cutting the nerves blocked the release of adrenaline that was causing Ruth’s fainting spells,” explains Dr. Moss. The therapy worked. “I never had another fainting spell after I had my nerves severed,” reports Ruth. Ruth felt a cautious sense of relief after her surgery. At the same time, Dr. Moss felt a new resolve to gain a true understanding of this puzzling condition. Long QT syndrome, while rare, caused thousands of deaths each year. In many cases, young and otherwise healthy people would experience cardiac arrest without warning. Some victims would die in the middle of athletic events, others when surprised by something as simple as an alarm clock going off. Ruth helps Dr. Moss pioneer his treatment for long QT An article on Dr. Moss’s work with Ruth Pontera was published in the New England Journal of Medicine. A flood of referrals resulted. With these new patients, Dr. Moss created the Long QT Syndrome Registry which now tracks information on thousand of long QT patients around the world. With this registry, Dr. Moss and his colleagues were able to identify the genes and mutations that cause long QT syndrome. More importantly, they were able to develop and provide the treatments that have prevented thousands of untimely deaths. The treatment that Ruth received—severing of certain nerves from the brain to the heart, or sympathetic denervation surgery—is still used in patients who are most at risk of sudden death. But Dr. Moss also helped develop other treatments for long QT, including the use of implantable defibrillators that can detect an abnormal heart rhythm and shock the heart back to its regular rhythm automatically. Ruth and Frank are well aware of the huge impact Dr. Moss has had on the health of thousands. Still, they think of Dr. Moss as the kind and friendly man who always had a remarkable passion for finding things out. “We liked him right from the beginning,” says Frank. “We could tell he had a genuine interest in what was going on with Ruth. If it wasn’t for him and his research, Ruth wouldn’t be here today.” “Dr. Moss is our friend,” adds Ruth. “He still calls us from time to time!” While Ruth and Frank recognize the far-reaching impact of Dr. Moss’s work, it also had big implications close to home. Three of the Pontera’s grandchildren have been successfully treated for long QT syndrome at URMC. “You do think about the timing of how this all happened,” says Ruth. “My doctor could have called anybody, but he called Dr. Moss. There was a reason for that.” Frank and Ruth, who were high school sweethearts, will celebrate their 60th wedding anniversary this July. Thanks, in no small part, to the work of Dr. Arthur Moss.