Helen Ruth Pontera had no idea she’d play a role in medical history when, in 1970, her fainting spells brought her to the office of a young, well-regarded cardiologist at the University of Rochester Medical Center. The good health she enjoys today, at age 85, is a credit to the curiosity and creative ingenuity of her physician and friend, Arthur J. Moss, MD (Res ’62, Flw ’65).
Neither could have imagined how that meeting would change history. It launched a decades-long journey that would transform the diagnosis, treatment and quality of life of patients with a rare and potentially fatal heart rhythm disorder called long QT syndrome (LQTS), and propel Moss into the spotlight as the world’s foremost expert in the condition. LQTS, which affects approximately 50,000 people in the U.S., makes the heart particularly susceptible to arrhythmias—irregular heart rhythms that can trigger fainting spells and sudden cardiac death.
It’s a story told by Moss, who is now the Bradford C. Berk, MD, PhD distinguished professor in the Department of Medicine, and his three adult children in the September/October issue of Progress in Cardiovascular Diseases. It captures in detail his four decades of LQTS work in identifying risk factors for early diagnosis, discovering treatment options, creating an international registry, and pinpointing 16 genes (and counting) associated with the disorder.
“Dr. Moss is a pioneer in long QT syndrome and one of the most influential scholars in the fields of electrophysiology and cardiology,” says Carl “Chip” Lavie, MD, professor of Medicine at Ochsner Clinical School-University of Queensland School of Medicine in New Orleans, and editor-in-chief of Progress in Cardiovascular Diseases. “I am honored to publish such a special paper showing the history of long QT syndrome and how the management of the disease has evolved through a coordinated effort that Dr. Moss has been intimately involved with over the past 45 years.”
When Moss met Pontera, it was the first he’d seen a patient with such an abnormal electrocardiogram (ECG) pattern. But it called to mind a chance encounter in 1957, when a leading cardiologist in Boston showed him a series of ECGs revealing a similar issue in a young deaf boy whose recurrent fainting spells culminated in sudden death.
With no drugs or devices available to treat this abnormality, Moss consulted with Joseph McDonald, MD, then URMC professor and chief of Neurosurgery, and devised a surgical procedure (called a left-sided cervicothoracic sympathetic ganglionectomy) that turned out to be remarkably effective in limiting the dangerous arrhythmias his patient experienced. Moss and McDonald published the details of this therapy in 1971.
A few years later, beta blockers came on the market. Moss and other physicians used these medications in patients with LQTS and found they were also beneficial.
In the years that followed, Moss received an increasing number of consultation requests involving patients with LQTS. When the number of referred patients became more than he could manage, he established the Long QT Syndrome Registry in 1974, as a way to maintain contact with them.
There are now more than 1,000 LQTS families from around the world enrolled in the registry, and more than 2,500 affected family members. Moss’ team contacts families once a year to discuss their overall health, medications, and fainting or arrhythmic episodes. This information is added to the registry and is a resource for hundreds of scientists and physicians seeking to improve their understanding of the disorder.
The National Institutes of Health has supported the registry since its creation, and in 2014 awarded another grant to fund the registry and associated research projects through 2019. Though Moss’ focus is on research, LQTS patients from all over the world continue to travel to Rochester for evaluation and treatment by Spencer Z. Rosero, MD, associate professor of Medicine and director of the Hereditary Arrhythmias Clinic at Strong Memorial Hospital.
“Helping patients with long QT syndrome has been a highlight of my career, and our work is not done yet,” Moss says. “It is remarkable what can result from the effective treatment of a single patient. The research and practice of medicine is unpredictable, but always extremely rewarding.”
Moss has stayed in touch with Pontera, of Canandaigua, N.Y., since her life-changing surgery in 1970. She thinks the world of him and considers him both a doctor and friend.
Moss’ children—Katherine M. Lowengrub, MD, instructor in Psychiatry at the Sackler School of Medicine in Tel Aviv, Israel; Deborah R. Moss, MD, MPH, associate professor of Pediatrics at the University of Pittsburgh Medical Center; and David A. Moss, PhD, professor at Harvard Business School—interviewed their father over the past year to gather information for the commentary.
“My dad asks great questions and he doesn’t stop until he figures a problem out. His perseverance, creativity and collaborative nature have yielded incredible results in LQTS,” says his daughter Deborah. “But, most inspiring, is the unique relationship he developed with his patients: he understood the importance of really listening and building trust. Together, a doctor and a patient can be a powerful force for change.”