In February 2009, Rita Spiteri boarded a plane from Los Angeles back to Toronto. But while everyone else was opening books or plugging in headphones, something made her strike up a conversation with the man next to her.

It turned out that her companion was a cardiologist who had just returned from a conference where he gave a lecture on cardiomyopathy, a condition that weakens the heart muscle and can lead to heart failure. Rita couldn’t believe it. Just a few years ago, she experienced symptoms and her GP suspected exactly the same symptoms. However, despite tests, no clear diagnosis was made.

After listening to Rita’s story, the cardiologist recommended that Rita meet with his colleagues at the University Health Network (UHN). Peter Munk Heart Center.

That would save her life.

Once we landed, Rita called to make a reservation. She was immediately asked to come to the Peter Munk Heart Center and sent home with a Holter monitor to track her heart rhythm.

A few days later, while gardening, she suddenly felt weak and had rapid heart palpitations. Her monitor sent data. I got a call from the hospital right away. Rita’s heart was about to stop.

An MRI scan back at the hospital finally revealed the answer to her symptoms. Rita had arrhythmogenic right ventricular cardiomyopathy (ARVC). This is a rare heart disease in which the right ventricular muscle is replaced by fatty or fibrous tissue, increasing the risk of irregular heart rhythms and sudden cardiac death.

She was only 47 years old. This discovery affects more than just Rita. It will affect her entire family.

ARVC is a genetically inherited condition. If a parent has a pathogenic mutation associated with ARVC, each child has a 50% chance of inheriting it. Genetic testing revealed that two of Rita’s three siblings, two of her three children and one of her brother’s children were at risk of the same fate.

As her family dealt with the news, Rita faced the next steps in her own treatment. She required an implantable cardioverter defibrillator (ICD). This is a small, battery-powered device that is implanted in your chest to continuously monitor your heart rhythm. If a dangerous rhythm is detected, the device delivers a high-energy shock to restore a normal heartbeat.

As Rita recovered from her ICD surgery, it became clear that her sister suddenly went into cardiac arrest and needed an ICD of her own. Soon after, her brother was also diagnosed with ARVC and was told he needed an ICD to support his heart. It wasn’t long before the three were receiving treatment together at the Peter Munk Heart Center.

The Peter Munk Heart Center at Toronto General Hospital is home to Canada’s largest heart failure program and North America’s leading inherited arrhythmia program.

“ARVC is a potentially fatal disease that remains significantly understudied,” says UHN cardiologist Dr. Dana Spears. “Patients are often diagnosed only after a life-threatening event.”

To address this gap, researchers at the Peter Munk Heart Center are working to better understand the causes of inherited cardiomyopathy and arrhythmias. In 2012, Dr. Spears helped establish Canada’s first UHN Inherited Arrhythmia and Cardiomyopathy Program, which specializes in the comprehensive evaluation of families with diagnosed or suspected inherited arrhythmia or cardiomyopathy. The program currently sees more than 600 patients each year and uses genetic testing and advanced imaging to identify biomarkers and better predict risk for individuals and families.

At the heart of this research is the Peter Munk Heart Center’s biobank, which stores patient data, tissues and blood samples. By leveraging artificial intelligence (AI) and machine learning, biobanks are accelerating the development of new treatments. Recently, he played a key role in identifying biomarkers associated with ARVC. The discovery could shed light on how the disease develops, improve diagnosis and, if validated, provide a potential path to halting its progression.

“By uncovering the genetic causes of cardiomyopathy and congenital heart disease, we can provide patients and families with earlier answers, clearer risks, and a path to life-saving treatments,” Dr. Spears says.

Unfortunately for Rita, her own diagnosis came too late. By the time her condition was identified, significant irreversible damage had already been done to her heart. Had it been caught early, the damage could have been prevented. In September 2021, she was told she needed a heart transplant.

Two months later, Rita received word that a heart was available. She was prepared for surgery, but the final diagnosis was that her heart was not viable. She went back on the waiting list. Although this is emotionally difficult for transplant patients, it is a common reality.

“As soon as an organ is potentially available, the transplant team moves quickly to prepare the recipient,” says Dr. Seyed Alireza Rabi, a cardiac surgeon and heart transplant program leader at the Peter Munk Heart Center. Ajmera Transplant Center. “At the same time, it is essential to respect the wishes of donors and their families and to clearly separate their care from the transplant process. In Canada, these functions are handled by independent teams to ensure reliability and transparency in the system.”

To increase the number of hearts available to patients like Rita, UHN is pursuing new approaches in transplantation. Canada’s first circulatory criteria (DCC) heart transplant to be performed in 2025. A multidisciplinary team led by Dr. Ravi from Peter Munk Heart Center and Ajmera Transplant Center successfully transplanted a heart that had stopped beating before donation. This milestone is expected to increase the donor pool by 30%.

These innovations won’t come soon enough, with 190 Canadians still waiting to have their hearts harvested by the end of 2024.

Rita finally received a new heart in the fall of 2022, about a year after going public.

She is now free of ARVC and supported by regular monitoring, a reality she once believed she would never experience. But even though the transplant gave her a new beginning, ARVC still weighs heavily in her family’s life.

In March 2023, Rita’s 33-year-old son went into cardiac arrest during a hockey game. His friends performed CPR on the ice. When paramedics arrived, they administered five electric shocks to his heart. It took them an hour to revive him. Two days later, Rita’s sister also died from the same heart disease.

Now, Rita has made it her mission to move forward with gratitude and purpose. she is volunteering to help heart linksa support group for transplant patients at Toronto General Hospital, and serves on the National Patient Advocacy Committee, which works to strengthen Canada’s organ donation and transplant system. She is sharing her story widely and encouraging others to register as a donor.

“My beautiful young heart has given me a second chance at life,” she says. “Why can’t I give back? If even one person listens to my story and becomes an organ donor, then my job is done.”

This May, Rita will be walking for the second time this year. We Walk UHNITEDa celebration of unity, gratitude, and hope.

“I am so grateful that all the pieces of the puzzle came together to make this possible: the donor and his family, the doctors and nurses, and the wonderful circle of support at the Peter Munk Heart Center,” says Rita. “But most of all, what got me to this moment was the unwavering love and strength of my family and friends. They have supported me every step of this journey, and it is because of them that I am here today. It is also because of their strength that I was inspired to volunteer at the hospital, helping me witness the beautiful miracles of life that I have witnessed.”

Rita happened to meet a cardiologist on a plane. But her life, and the lives of people living with ARVC, shouldn’t depend on chance. It depends on a community of donors, researchers, and supporters coming together to enable more people like Rita to live the fulfilling lives they deserve.