Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is primarily believed to be an inherited cardiomyopathy that subsequently results in significant myocardial fibrosis. The arrhythmogenic consequences that result from the development of fibrosis are similar to other types of cardiomyopathies, but the unique endocardial-epicardial disease process of ARVC/D requires a specialized approach for arrhythmia treatment in the electrophysiology laboratory. Although the association between ARVC/D and development of ventricular arrhythmias has become increasingly clear over the last 2 decades, our understanding of the arrhythmia mechanisms, underlying electrophysiologic substrate, and treatment strategies were significantly limited. Prospective studies performed in the electrophysiology laboratory by Penn EP faculty allowed detailed characterization and localization of abnormalities that cause ventricular tachycardia in these patients. 

For many years catheter ablation was considered a limited and largely unsuccessful treatment for patients experiencing painful and recurrent defibrillator therapy. Through our increased understanding of the disease process, catheter ablation has evolved to become an effective and preferred therapy for a majority of these patients. We are actively continuing investigations to further understand the disease process and the necessary approaches to provide successful treatment. 

Exciting firsts in Inherited Arrhythmogenic Right Ventricular Cardiomyopathy

​Using our background of success in treating arrhythmias in patients with coronary artery disease, the Penn EP program has lead the field in the evaluation and treatment of patients with inherited arrhythmia disorders like ARVC. 

In patients with ARVC Penn EP has been the first center to:

  • ​Demonstrate the importance of epicardial (on the outside of the heart) ablation to eliminate ventricular tachycardia
  • Demonstrate the absence of scar progression in most patients with ARVC - previously, it was thought to be a relentlessly progressive degenerative disease
  • Describe excellent long-term outcomes with catheter ablation, including the elimination of the need for continued drug therapy
  • Describe the common occurrence of atrial arrhythmias during long term follow-up after successful ventricular tachycardia elimination
  • Describe unique ECG patterns on the 12 lead ECG that could characterize precise scar location before their procedure and want the opportunity
Our program has identified other exciting initiatives to create new “firsts” in the treatment of arrhythmias in patients with ARVC and other inherited arrhythmia syndromes that are part of active research investigations.


One Patient's Inspirational Story

A year ago, I didn't know if I would be here to share this story. Last August, at age 23, I almost died. Suddenly and unexpectedly, I experienced a life threatening heart rhythm. My resting heart rate accelerated to 250 beats per minute, and my blood pressure plummeted. This heart rhythm is commonly fatal. It all started while walking up some stairs on the way to class. Two steps from the top, I felt my heart begin to forcefully pound. It didn't stop. As my heart raced, my arms and legs felt like dead weights. I became increasingly disoriented, gasped for air, and felt a crushing tightness within my skull. Transported by a friend to my apartment, I collapsed to the ground of my apartment building lobby and clutched the leg of a complete stranger who had been asking if I was "ok." While lying upon the ground, my left cheek pressed against her thigh, the floor began to go black. An onlooker called 911. Riding in the ambulance, its sirens wailing down Chicago's Michigan Avenue, I prepared myself mentally for the end. With an IV jammed into my arm and defibrillator pads hastily applied to my chest, I reached for the hand of the paramedic who sat beside me for reassurance. I recited a prayer over and over again in my head and took comfort in the fact that my family would not have to witness this experience. When we arrived at the ER, I immediately found myself under the rapid fire examination of many doctors and nurses who surrounded my gurney and rushed to stabilize my heart rhythm. After about 15 more minutes in the ER, my life threatening heart rhythm spontaneously returned to normal. A day that began as typically as any other ended with me fearing for my life in a hospital bed. 

I'm writing this because I hope to shed light on a puzzling medical condition that has taken the lives of many active, seemingly healthy, and vibrant young people. Often times, there is no warning. Doctors have told me it is likely I have some form of this exact condition. Last fall, after months of medical evaluation and testing, Dr. Francis E. Marchlinski of the Hospital of University of Pennsylvania in Philadelphia discovered that I have a scar on the outside of my right heart ventricle during a rare procedure. It is a finding often seen in a rare disease called arrhythmogenic right ventricular cardiomyopathy (ARVC). Have you ever heard of a young person who goes out for a run and suddenly dies due to previously undiagnosed cardiac causes? Frequently, the culprit in these tragedies are heart conditions like ARVC, which affects an estimated 1/5000 people. ARVC is one of the most common causes of sudden cardiac death in young people. Too often, the first diagnosis of ARVC is made only at autopsy. In this case, the first sign of anything wrong manifests when young active adults, who are otherwise healthy, drop dead from a fatal irregular heart rhythm. As a result, heartbroken families are left scrambling to pick up the pieces and understand what happened.  

ARVC often escapes early detection because diagnosis usually requires extensive and expensive medical testing. Doctors are unlikely to order tests for a seemingly healthy, active young person with no perceptible symptoms. Further, even with extensive testing, a diagnosis can be completely inconclusive. I was told my testing came back normal even after I was experiencing life threatening heart rhythms. A brilliant cardiologist at home, Dr. Ravi Yarlagadda, made the discovery that eluded all of the other doctors. He detected that the arrhythmia originated on the outside of my heart and sent me to Dr. Marchlinski. 

I feel I am still here to tell the story others do not live to share. Although my future with this condition is uncertain, I have resolved to bring this issue to as many people's attention as possible. With each passing day, I have lost sleep concerned that I won't have the chance to get this story out or that I won't share it effectively enough to garner support for thousands of current and future ARVC patients. I firmly believe that, together, we have a unique opportunity to change the ARVC story. Your support will make a definite impact on UPenn Cardiac Electrophysiology research to improve both treatment and diagnosis of ARVC. This research has the potential to benefit thousands of patients and may help prevent the unexpected deaths of young, otherwise healthy people. Dr. Marchlinski was the first person to give me hope. He helped to pioneer the procedure I received at Upenn, and this is rapidly becoming the standard of care for this condition. He possesses a unique understanding of ARVC and is assembling a team of physicians and researchers to attack and solve this problem. 

It is for these reasons I believe we have the capability to make a difference for many young people. 

Learn More about Katherine Miller's Journey, Creation of the Katherine J. Miller Research Fund, and her Commitment to Raise ARVC Awareness