28th in the world — Karl’s rare diagnosis exemplifies the need for heart health awareness

“It was kind of like a shock, like a punch in the face,” says recent University of Alberta grad, Karl Sacca, about the rare and life-altering diagnosis he received at just 16 years old.

Now a 24-year-old, Karl navigates the normal challenges of work while managing a rare medical condition that intertwines his heart and skin. His journey to diagnosis was anything but typical, as he recalls, “I never expected to have a heart condition. I never even had problems before or issues with my heart.”

Karl’s distinctive medical path began with a persistent issue—dry skin. Routine dermatologist visits resulted in different prescribed creams, treating what seemed like a minor inconvenience. It was only when a visiting dermatologist from Columbia University took notice of Karl’s dry, woolly hair that the situation took a surprising turn. A heart echocardiogram was suggested, and Karl, though shocked, agreed to the test.

The results were astonishing. At just 16, Karl was diagnosed with Carvajal Syndrome, an extremely rare genetic condition impacting both the skin and the heart. “I became the 28th recorded case worldwide,” Karl explains. “My heart’s function was compromised with a low ejection fraction of around 20%, compared to the normal 60–70%.” With medications, Karl’s heart has remained strong and stable, and his Subcutaneous Implantable Cardioverter-Defibrillator (SICD) keeps him safe.

Choosing to pursue his studies at the University of Alberta was not just a career move for Karl; it was a decision influenced by his health condition. In Lebanon, his home country, an economic crisis and lack of advanced medical technology made the specialized care Karl needed difficult to attain. Medication shortages frequently forced Karl and his family to travel far distances to fill prescriptions for the life-saving medications that would keep his heart condition stabilized.

The Mazankowski Alberta Heart Institute (MAZ) became a pivotal part of Karl’s health care journey when he moved to Edmonton, Alberta. Referred by his family doctor, Karl experienced a new level of care. Around one year after his first appointment with the cardiologist at the MAZ, Karl’s SICD stopped working. Possibly broken or expired, the device had to be replaced. “It was an amazing experience at the MAZ,” Karl says. “The surgery went very smoothly—no pain after. I didn’t even take the Tylenol,” he jokes. “I didn’t even feel like I was having surgery. The way they talk to you, the way they treat you. We joked and laughed, it was very nice. After the surgery, every member of the team from the surgeon to the anesthesiologist all came and told me they were glad I was okay.”

The continuous monitoring of his SICD, immediate post-surgery care, and advanced medical technology showcased the privilege of being treated at a leading heart institution. For example, with the old SICD Karl would be responsible for going into the hospital if it gave him a shock, now the team at the MAZ will be notified in advance and monitor him remotely. Karl reflects on this, saying, “I feel safe. I can’t really explain it. It’s very—it’s a privilege. Many people don’t have that in other countries, not just Lebanon. Even in Europe, I don’t think a lot of centres are that advanced.”

Being part of the MAZ has given Karl a profound sense of safety and peace of mind. He cherishes the privilege of proximity to top-notch healthcare professionals who prioritize patient care. Contributing to the University Hospital Foundation (UHF) and their awareness campaigns for the MAZ has become Karl’s personal mission. “One of the most important things is raising awareness because many people don’t get their hearts checked,” he emphasizes.

Despite the uncertainties that come with his medical condition, Karl’s optimism shines through. “I appreciate every day that I have, and I really try to enjoy every moment,” he shares. Challenges, including previous hospitalizations, have strengthened Karl’s resolve and heightened his gratitude for good health.

In sharing his story, Karl hopes to inspire others to prioritize heart health and contribute to the UHF, ensuring that more lives can be saved through advanced health care and awareness. “No one would expect, ‘I’m not going to wake up tomorrow.’ But that echocardiogram woke me up. Screening, testing, and awareness may lead other people to get their hearts checked and save their lives, too.”