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Making History one heart at a time

A keen interest in history lies behind the determination of Dr. Ariane Marelli, a cardiologist at the McGill University Health Centre (MUHC) and founding director of the MUHC’s innovative McGill Adult Unit for Congenital Heart Disease Excellence (MAUDE). As a specialist in the treatment of adults with congenital heart disease (CHD), the genetic and medical histories of her patients provide Dr. Marelli with invaluable information about the heart abnormalities that have afflicted them since birth. Then there is personal history: both Dr. Marelli’s own, where a series of fellowships at prestigious medical schools in the United States ignited a passion for the rapidly evolving specialty of adult CHD, and those of her patients, who share their stories with her of struggling in a medical system ill-equipped to handle the complexities of their condition. Finally, there is the history of her chosen profession, in which, as Dr. Marelli discovered early on in her training, a McGill cardiologist named Maude Abbott played a surprising and critical role. “Maude Abbott is known as the mother of congenital heart disease,” says Dr. Marelli. “At a time when many medical schools still wouldn’t admit women, she became the world authority on CHD, writing a chapter about it in 1908 for William Osler’s textbook Modern Medicine and publishing her own comprehensive Atlas of Congenital Heart Disease in 1936. As a woman and as a physician, I have always found her an inspiring figure. I was proud to follow in her footsteps in this specialty and to have founded the MAUDE unit in her name.”

First described in detail in the early 1900s by Abbott and her colleagues, CHD is an umbrella term for a family of structural and functional malformations of the heart that are present in patients in the womb. Ranging in severity depending on the particular abnormality, CHD is the most common form of birth defect in newborns, affecting about eight to ten of every thousand babies born worldwide. The causes of CHD remains poorly understood, although hereditary factors appear to play a role, as does the consumption of alcohol, street drugs or certain medications during pregnancy.

While pursuing cardiology fellowships in the late 1980s at the University of California in Los Angeles and working at the Massachusetts General Hospital, Dr. Marelli developed an interest in the treatment of adults with CHD, a field that was still in its infancy. “In Maude Abbott’s time and for many decades afterwards, we simply didn’t have the tools to treat the more severe forms of CHD,” says Dr. Marelli. “This meant that countless patients didn’t survive childhood. As medical and surgical techniques have advanced, we’ve developed treatments that have kept many CHD patients alive and healthy well into adulthood, although they require constant monitoring and care from specialists who know these diseases inside and out. Providing that care became my passion.” On her return to Montreal, Dr. Marelli was determined to set up a dedicated program to treat adult CHD patients, a notion that was relatively new in Canada. “The Montreal Children’s Hospital of the MUHC has long been a leader in treating CHD in children,” Dr. Marelli explains, mentioning historical luminaries such as the pediatric cardiac surgeon Dr. Anthony Dobell and current MUHC innovators Dr. Marie Béland, the head of Pediatric Cardiology, and Dr. Christo Tchervenkov, who “pioneered infant heart surgery in Canada,” according to Dr. Marelli. “Patients who graduated to adult care were treated by cardiologists and surgeons who didn’t necessarily have close contact with their pediatric caregivers and who weren’t set up to collaborate as a treatment team. For patients already suffering from a complicated and unpredictable disease, this disruption in care was often deeply traumatic.”

To remedy the situation, in 2000 Dr. Marelli and her colleagues, including Drs. Tchervenkov and Béland, proposed the creation of a dedicated adult CHD unit. With the support of the MUHC and several generous private donors, the MAUDE unit was opened at the Montreal General Hospital site four years later. Dr. Marelli recalls with a smile, “I had known for years that I would name the unit for Maude Abbott. It took a bit of creative thinking, but I finally came up with an acronym that both describes what we do and honours Dr. Abbott every time the name is mentioned.”

The MAUDE unit, which is the only one of its kind in Quebec, now encompasses more than 20 physicians and surgeons, along with nurses, professionals and support staff, representing a wide range of medical specialties, from psychology to genetic counselling and transplantation. “Patients with CHD will often need several operations over the course of their lifetime, some of which pose the risk of complications. Many patients also run a high risk of arrhythmia, heart failure and problems with their lungs and kidneys. If they do choose to have children, genetic counselling is often needed to assess the danger to themselves and their baby.”

At the MAUDE unit, specialists work as part of a multidisciplinary team to make certain that patients receive the range of services they need. Just as important, Dr. Marelli and her colleagues collaborate closely with Dr. Béland and her pediatric cohort to ensure that the transition from pediatric to adult care is as seamless as possible. “This is one of the great advantages of a comprehensive centre like the MUHC,” says Dr. Béland. “Caring for patients from infancy through adulthood at the same institution means that we can begin at the beginning, which is to say that we work with the obstetrical team to diagnose CHD even before a baby is born. Our next job, from the moment they come into the world until they turn 18, is to give them world-class pediatric care. At 18 we help them make the transition to adult care, introducing them to their new caregivers and making sure that they still see familiar faces once they’ve moved over to the adult side.” In fact, several MUHC specialists, including Tchervenkov, interventional cardiologist Dr. Giuseppe Martucci and imaging specialist Dr. Luc Jutras, work with both adults and children with CHD. This rare dual expertise is made possible by the MUHC’s unique pediatric-to- geriatric structure.

For Drs. Marelli and Béland, the future of CHD care at the MUHC is about to get even brighter. When the MUHC’s redevelopment is complete, the MAUDE unit and the new Montreal Children’s Hospital will sit side by side on the Glen campus. “This is incredibly exciting for all of us,” says Dr. Marelli. “The unified, collaborative institution that we’ve already become will now be a physical reality. When I need to consult with Dr. Béland or Dr. Tchervenkov, they’ll only be a short walk away. When a patient moves to the adult hospital, they’ll remain in the facility they’ve always visited. The familiarly will be very comforting to them. The new MUHC will be one of very few facilities in North America able to offer this kind of service.”

Indeed, the MAUDE unit is already developing a reputation for excellence that extends far beyond Quebec. The unit is currently training medical fellows from as far away as Kuwait and Switzerland. “I think the MUHC has created a true model for how to care for patients with CHD,” says Dr. Marelli. “We’re proud to share it with physicians from around the world.”

Closer to home, the MAUDE unit will increasingly act as the hub of CHD treatment for the more than 1.7 million patients who live within the territory of the McGill RUIS. “We provide the kind of super-specialized care that only a university health centre can offer, and it’s essential that we extend this service to patients who live in remote regions,” Dr. Marelli says.

So what does the future hold for Dr. Marelli and the MAUDE unit? “As our studies have shown, we can anticipate seeing more and more CHD patients graduating from pediatric care and needing adult follow-up,” says Dr. Marelli. “I’d like us to be able to expand even further by creating relationships with more specialists across the RUIS so that we can offer a larger range of services to our patients.”

This sounds like history in the making, and like a story that would make Maude Abbott proud.


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