Rewriting the Playbook: A Cardiologist’s Journey into Cardiac Amyloidosis

My career in medicine beganwith a simple fascination: Why do certain diseases refuse to stay in one lane? Early in medical school, I found myself drawn to problems that involved multiple body systems at once—ones that demanded you zoom out and consider the entire body. For example, a clinical picture of unexplained swelling, a thickened and deteriorating heart, and progressive neuropathy would pique my curiosity and force me to slow down, considering possibilities beyond the usual suspects.

These are the cases that led me to a career of clinical care and research in cardiac amyloidosis which is a buildup of protein in the heart muscle, making it thick, stiff, and unable to effectively pump blood.

Back then, amyloidosis was described with a sort of mythical quality. It was the disease you only encountered when reviewing flashcards for board exams. In morning reports, it was a zebra, a rare condition someone threw out when they wanted to sound clever. On rare occasions, it appeared on an episode of House as the dramatic twist that explained everything in the final minute.

But in the day-to-day practice of cardiology? It was barely a footnote—rare, mysterious, and inevitably diagnosed too late.

A Small Disease with a Big Impact

I usually explain amyloidosis to patients by starting with the fact that your body is composed of tens of thousands of microscopic molecules, some of which are proteins. Each protein is found in a particular three-dimensional shape that allows it to perform essential tasks inside the body. Sometimes, a protein changes shape and misfolds. Luckily, the body has ways to break down and recycle or remove these abnormal proteins. When the misfolding becomes too frequent or the clean-up process becomes faulty, the proteins can get stuck in different places in the body and cause problems.

The most common amyloid disease that everyone is aware of is Alzheimer’s disease. This occurs when the Aβ protein, found only in the brain, is deposited between the neurons, which leads to symptoms of dementia.

The amyloidosis we see in the heart is of an entirely different species. There are two subtypes of cardiac amyloidosis, caused by the clumping and depositing of either antibody fragments made in the bone marrow or the transport protein transthyretin made in the liver.

A Disease Stepping Out of the Shadows

As I moved through internal medicine residency, I found myself spending extra time on cases where the diagnosis seemed incomplete and unsolved. I had seen cases of amyloidosis, but it wasn’t until I undertook my cardiology fellowship at Cleveland Clinic when my interest took hold. I met Mazen Hanna, MD, one afternoon when doing consults in the Emergency Department; he became a lifelong mentor and friend. Dr. Hanna was a world expert in the burgeoning field of cardiac amyloidosis and saw more people with this condition than anyone, but needed a partner to help organize and describe patterns in the patients he was seeing.

Around this time, the field was changing. Noninvasive nuclear imaging scans were becoming more widely used. We no longer had to biopsy a patient’s heart to make the diagnosis. Genetic testing was becoming accessible, allowing entire families to understand the strange set of symptoms many of them struggled with. Therapies for both types of cardiac amyloidosis once thought unimaginable, were entering clinical trials and ultimately, clinical practice.

Suddenly, the zebra was becoming a horse we’d simply never noticed before, and one that we are now learning how to tame.

Here was a disease that was long dismissed as incurable, rare, and hopeless—now stepping into the light because of improved diagnostics and emerging treatments. I wanted to be part of that shift. I wanted to help build the bridge between the hopeless case amyloidosis had been and a brave new world for people with the disease.

At Cleveland, our group helped define several key aspects of amyloidosis. We demonstrated the lifesaving potential of emerging therapies for a rare but dangerous form of the disease—AL amyloidosis—and advanced the field’s understanding of noninvasive diagnosis of the second form of the disease—ATTR amyloidosis—using nuclear imaging. We were among the first to report the connection between carpal tunnel syndrome, a painful condition caused by a pinched nerve in the wrist, and amyloidosis

Building a Program at Saint Luke’s Heart Institute

When I joined Saint Luke’s Mid America Heart Institute in 2017, I knew this was where I wanted to focus my energy. We had the chance and the responsibility to build something that didn’t exist yet in our region: a true cardiac amyloidosis program.

Eight years later, the program has grown beyond anything I could have anticipated. We now have dedicated nurse coordinator Alyssa Hosmann, BSN, medical and research assistant Lauren Halverson, and genetic counselor Rachel Schaff, MS, to help care for the increasing number of patients coming through our doors.

In the beginning, we’d diagnose a few dozen cases per year within our health system—each one a small victory, as we helped a patient finally put a name to their long and frustrating clinical journey. But as awareness expanded around the region, the numbers began to rise. Every educational talk I gave around Kansas, Missouri, Arkansas, Oklahoma, and Iowa was a small victory and another potential health care provider who would be looking for this disease in their patients.

We weren’t creating disease; we were finally finding what had been hiding in plain sight for decades.

One of my proudest achievements is the fact that cardiologists, neurologists, and primary care providers are now thinking about and looking for this disease across the region outside of Saint Luke’s.

AL Amyloidosis: An Urgent Diagnosis

The first subtype, AL amyloidosis, is less common but far more lethal. It’s a plasma cell disorder—a blood cancer—that deposits toxic antibody fragments called light chain proteins in the heart and other organs. Patients may have symptoms of heart failure (swelling, shortness of breath, and fatigue, among others), kidney failure, and neuropathy (damage to peripheral nerves). Some even develop an enlarged tongue or purple bruising around the eyes. When left untreated, it is unrelenting and can progress rapidly within months.

Learning to recognize AL amyloidosis early, partnering with hematologists, ensuring patients receive rapid access to immunotherapy—this became one of the most urgent responsibilities in my practice. Many AL patients walk into clinic thinking they have a “heart problem,” never imagining that the true battle is a form of cancer they never knew they had. Luckily, advances in immunotherapy have made this condition very treatable with few if any side effects, particularly if caught early.

ATTR Amyloidosis: Wild-Type and Hereditary

The second major form, ATTR amyloidosis, is more common and progresses slowly but can be similarly unrelenting. Patients with this condition are typically older, with the average age at diagnosis in the mid-70s, and about 90% of affected individuals are men. Common signs and symptoms include heart failure, heart rhythm abnormalities like atrial fibrillation, and orthopedic symptoms—classically carpal tunnel syndrome in both hand and/or spinal stenosis.

The two forms of ATTR amyloidosis are wild-type and hereditary. Wildtype ATTR is a subtype where the transthyretin protein is encoded from normal DNA. The hereditary ATTR form means that the DNA encoding this protein is slightly abnormal and is passed down from generation to generation. The V122I variant is particularly important, as it affects roughly 4% of the Black population in the United States. In real terms, that means that 1.5–2 million living Americans are likely at risk of developing this hereditary form of ATTR amyloidosis later in life.

Major advances in treatments for ATTR cardiac amyloidosis have occurred in the past eight years, and now three different medications are available for the disease with a fourth hopefully on the way. We have seen major improvements in longevity and quality of life since treatments have become available, bringing hope to patients previously without treatment options.

Sidebar: The Human Side: Patients Who Became Partners

What surprised me most—what I could never have predicted—was how many of my patients would take their diagnosis and transform it into advocacy, leadership, and purpose.

Mike Lane and the Amyloidosis Army

Mike Lane is one of those people who leaves a mark on every room he enters. When he was diagnosed, he refused to let amyloidosis define him solely as a patient. Mike has the hereditary form of ATTR amyloidosis found in individuals of Irish descent, and he founded the Amyloidosis Army, a support and awareness organization that connects patients, families, clinicians, and anyone touched by the disease.

You can find Mike organizing patient awareness events around Kansas City and throughout the country. He has worked tirelessly to raise awareness of this disease, particularly in the Black population, and encourages people to seek genetic testing or cardiac evaluation if they have symptoms. Earlier this year, he petitioned the state legislature of Missouri to designate May 8  as Amyloidosis Awareness Day and is working on Kansas next.

Find out more about the Amyloidosis Army at AmyloidosisArmy.org.

Art Still and Still 4 Life

Then there is Art Still, a Kansas City legend and Chiefs Hall of Famer whose onfield presence is matched only by his off-the-field character and resilience. When he learned he had amyloidosis, he also turned his platform into a vehicle for awareness. Through Still 4 Life, he began educating the public—through the NFL alumni network and throughout the Black community—about hereditary ATTR amyloidosis.

Watching him speak, seeing the way people listen, you realize that advocacy can sometimes accomplish what medicine alone cannot. Art helps to destigmatize the disease and motivates people to talk about their symptoms and get tested.

Get more information on Still 4 Life at Still4Life.org.

Looking Forward

Patients like Mike and Art changed the way I think about this work. They reminded me that medicine does not end with diagnosis or treatment; it extends into community, education, empowerment, and hope.

When I reflect on how far we’ve come in eight years, it feels like witnessing a transformation in real time. The disease that once hid in the shadows now has FDA-approved therapies, public figures raising awareness, and a growing network of specialists dedicated to early detection.

More importantly, patients now have something they rarely had before: options.

Throughout this journey, I’ve often thought about the irony that amyloidosis—one of the more complex cardiology condition—has brought such clarity to my professional purpose. It taught me that the heart cannot be understood in isolation. That subtle signs matter. That listening to a patient’s entire story, not just their symptoms, is essential. And with state-of-the-art imaging and new life-saving therapies, we can turn a once fatal diagnosis into a very manageable condition. 

Learn more at SaintLukesKC.org/amyloidosis