Making the Diagnosis: Why Cardiac Sarcoidosis Should Be on Cardiologists’ Radar

It was Anne McAllister, a 56-year-old lawyer living in Ottawa who first sparked Dr. David Birnie’s interest in a rare but potentially deadly heart condition just over a decade ago.

McAllister was experiencing frequent spells of arrhythmia. Her heart rate changed from rapid to slow without any concrete explanation as to how or why. She was fitted with a pacemaker, which seemed to clear up the issues for about two years. Then, in February 2009, she was admitted to emergency again—this time with significant heart failure. McAllister was fit, active and relatively young to be experiencing heart complications. The doctors were stumped, until she was diagnosed with a rare disease called cardiac sarcoidosis.

In 2011, 48-year-old Steven Gormley was deployed as a military medic to Afghanistan when something strange happened to his heart. Two months after landing in Afghanistan, his heart rate plummeted. Upon medical examination, Gormley was found to be at serious risk for sudden cardiac arrest and he was sent home to the Heart Institute where he, too, was diagnosed with cardiac sarcoidosis.

Sarcoidosis is an inflammatory disease that can affect any organ in the body, usually the lungs or the skin. Clusters of white blood cells called granulomas form due to an abnormal immune reaction to an unknown bug, antigen or toxin in the environment. While relatively benign when it affects these organs, if sarcoidosis reaches the heart it can cause serious problems including arrhythmia, heart failure or sudden death.

Between 20,000 and 30,000 patients currently live with sarcoid disease in Canada with perhaps 5% of those experiencing heart issues. The condition is not well understood in the medical community and little data exists for doctors to reference when diagnosing their patients.

Drawn to Learn More

Dr. Birnie, a cardiac electrophysiologist and the director of arrhythmia services at the Ottawa Heart Institute, is working to change that. Dr. Birnie earned his medical degree from Glasgow University in 1990 and spent three years working towards his PhD and training in cardiology. He is one of the few doctors in the world who is studying in-depth the causes and effects of cardiac sarcoidosis. Now, with the help of a recent grant of over $600,000 from the Canadian Institutes for Health Research (CIHR), he will conduct the first study of its kind in the world on the disease.

One of the things that sparked Dr. Birnie’s interest in cardiac sarcoidosis was the patient demographic. Most are between the ages of 30 and 60 years old, with very few cases affecting the very young or the very old.

“That’s why it’s so important. It’s affecting people in the prime of their life,” he said.

Anne McAllister was the first patient who inspired Dr. Birnie to further research cardiac sarcoidosis. He had missed the diagnosis the first time around when she was fitted with a pacemaker, and McAllister wanted to know why she had this disease and what her prognosis was.

“I said to her, ‘Well, I have no idea, I don’t know what your prognosis is and I’m very sorry I missed it.’ From that point onwards, the more I read and the more I learned about it the more I wanted to make it a major part of my career,” explained Dr. Birnie.

In 2014, he and his collaborators published the first international guidelines for diagnosing cardiac sarcoidosis. McAllister was touched when he sent her a copy with a handwritten note thanking her for inspiring the work.

“I get some satisfaction from the fact that in some small way I made a contribution even if it’s kind of a bizarre one,” she said.

Once he heard the good news that his grant proposal was accepted in early February, especially fitting at the beginning of Heart Month, Dr. Birnie was ecstatic. This was their third attempt for funding.

“To be honest, we didn’t really expect it,” he said. “I imagine it’s a bit like creating a piece of art. Nobody’s ever created something like this and you hope someone’s going to like it. And then somebody obviously did, so we were thrilled.”

The study will involve conducting a registry with 1,500 patients from approximately 15 other hospitals—the majority in Canada and one in Japan. A component of the registry will incorporate a randomized treatment trial. Consenting patients will have their information entered into a central database at the Heart Institute and they will be monitored for at least five years. While other studies have been conducted in various countries including Japan, Finland and the United States, Dr. Birnie will be the first in the world to conduct a multi-centre registry that incorporates a randomized trial.

What a Diagnosis Means for Patients

Dr. Birnie currently runs the Cardiac Sarcoidosis Clinic at the Heart Institute alongside Pablo Nery, MD. The clinic gets around 100 new referrals per year, but many patients who come for screening are found to have some other condition. For those that are diagnosed, there is no way at this time to predict which patients have a benign disease and which will need more extensive treatment. The disease can proceed in many ways. For some, it can be disabling, causing arrhythmias and heart failure. For others, it’s more manageable and can be treated with corticosteroids like Prednisone to help suppress inflammation in the heart. Dr. Birnie said the most important thing is educating clinicians about the diagnosis so that they can clinch it before it’s too late. 

There are three main tests for diagnosing cardiac sarcoidosis. The first is a CT scan of the thorax that will reveal enlarged lymph nodes. The second is an MRI scan that will usually show early signs of scarring in the heart tissue. The last test is called an FDG-PET scan, which is a nuclear cardiology test wherein the patient is injected with a radioactive tracer to highlight inflammatory cells in the heart through their uptake of glucose. FDG-PET is available at only a handful of institutions—the Heart Institute being one of them. It provides a more precise image of the heart tissue to better diagnose the condition.

The severity and treatability of cardiac sarcoidosis depends on how early it is diagnosed. If it is caught early and treated properly, then it is often quite benign and the body will eventually clear the disease-causing agent on its own. But if left untreated, it can be quite serious and patients can develop severe heart failure and debilitating arrhythmia. Deaths are uncommon but a real possibility.

Upon being diagnosed, a patient’s treatment options are limited. Corticosteroids tend to be quite hard on the body and cause side effects including weight gain and mood swings. Dr. Birnie plans to start a project randomizing patients to different treatment options with fewer side effects.

“Patient satisfaction is going to be a major end-point to the research,” he said.

A pacemaker/defibrillator is often implanted in patients experiencing electrical problems such as a conduction block. Heart transplants are rare, a last resort for treatment. So far, only four cardiac sarcoidosis patients at the Heart Institute have needed a transplant—Gormley being one of them.

Today, one year after his transplant, Gormley is doing well and slowly getting back to his athletic hobbies. After a period of intensive treatment with Prednisone, McAllister is also doing well. The inflammation in her heart has gone down and there are no sign of relapse. So far, so good, she said. Equally pragmatic in their approach to living with their condition, both are grateful to Dr. Birnie and the Heart Institute.

“I knew I was in good hands and would get the best medical care possible,” said McAllister. “You sort of just get on with life. There are other types of illnesses that could be a lot worse and require a lot more care. So, I just carry on.”

Gormley echoed her enthusiasm for the quality of care: “It’s a fantastic team. I tell people don’t be scared. If you want 100% care, that is the place to go.”

Enhancing Collaboration and Awareness

A key component of the cardiac sarcoidosis program at the Heart Institute is the collaboration with imaging, in particular with the PET imaging team lead by Rob Beanlands, MD, Division Head of Cardiology. “High quality PET imaging is so critical to being able to diagnose and manage these patients,” said Dr. Birnie. “We are very fortunate to have world leaders in this area right here in our own National Cardiac PET Centre. It also makes for a very fertile research environment.”

The efforts of Drs. Birnie, Nery and Beanlands have placed the Heart Institute at the forefront internationally in cardiac sarcoidosis care and research. He and his team have been working closely with Dr. Riina Kandolin, MD, and colleagues at the University of Helsinki in Finland. The two groups were among the first medical centres in the world to start research in this area.

Dr. Kandolin was recently awarded the Banting Postdoctoral Fellowship and will be coming to the Heart Institute this fall for two years. Although her focus will mainly be heart failure and imaging, Dr. Birnie is looking forward to her visit.

“The Finnish group are really the leading European group in this area, so for her to join us and create the collaboration is great,” he said.

 Dr. Birnie said the next steps are acquiring more funding to further advance the research and continue to raise awareness of this condition.

“The ultimate dream is to try and figure out what causes this disease. Is there something in the environment that causes it that we can prevent? But that’s decades away. What’s more realistic at this point is to convince the medical community that they have to look for this disease and look for it more often.”