Thrive with your PKP2 Gene
Whether your result is new or you’ve lived with it for years, connect with others who share your gene and stay close to the latest research and clinical trials that could help you live a healthier life.
Join the PKP2 communityHave a different gene? Search here.
“When my result came back, I felt completely alone. Finding people who truly understood changed everything.”
Maria, 47
Living with the MYH7 cardiomyopathy gene
“My diagnosis explained my family history, and let me take action to protect my kids.”
Christy Johnson
Living with a DSP cardiomyopathy gene
“The community answered questions I didn’t even know how to ask. I finally feel in control.”
James, 34
Caregiver to father with TTN cardiomyopathy gene
Your PKP2 quick-start guide
You don’t need to figure everything out today. Here’s what matters now, and what can wait a few weeks.
What you can do today
Join the PKP2 email list. New PKP2 trials and findings are emerging quickly. Fill out the form below to receive updates about future research and clinical trial opportunities.
Connect With Others: You don’t have to process this alone. Join the PKP2 Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others on the same path.
Learn Through Video: Watch our expert video on PKP2 and check out our recorded webinars with real patients, real doctors, and plain language.
Talk With Someone Who’s Been There: Not sure where to start? Email us with your questions at info@geneticcardiomyopathy.org
Learn More:
Explore these trusted organizations for additional information and support:
- DCM Foundation: Learn more about dilated cardiomyopathy, inherited heart disease, patient education, and support resources.
- Foundation for Inherited Arrhythmias: Learn more about heart rhythm disorders, inherited arrhythmias, family screening, and patient support.
- HeartCharged: Learn more about inherited heart conditions through patient stories, education, advocacy, and support.
Building your care plan
Find a Specialist. Not all cardiologists specialize in cardiomyopathy or inherited heart conditions. In the coming weeks, connecting with a Cardiomyopathy Specialist can make a meaningful difference in how your care is guided.
Establish a Baseline. Your care team may recommend heart testing, such as an echocardiogram or EKG, to understand your current heart function and create a reference point for the future.
Consider Genetic Counseling. A genetic counselor can help you better understand your genetic testing result, what it means for your health, and how to approach conversations with family members who may want to be tested.
Support Your Heart Health. Your care team will work with you to focus on protective measures like blood pressure management. Small, consistent steps will give your heart the best opportunity to stay strong.
Take these resources with you:
Download and print the Doctor Discussion Guide to help you feel organized and confident as you navigate your diagnosis.
Understanding the PKP2 Gene
The “Cell Connector” of the Heart
The PKP2 gene provides instructions for making plakophilin-2, a protein that helps hold heart muscle cells tightly together during the constant stress of each heartbeat. It also supports the electrical signaling between cells, helping the heart beat in a coordinated way.
What happens when PKP2 is not working properly?
When the PKP2 protein is not working as it should, the connections between heart muscle cells can become weaker over time. This can affect both the structure of the heart and its electrical system.
This may lead to inflammation, scarring (fibrosis), weakened heart muscle, and abnormal heart rhythms (arrhythmias). Many people with PKP2 variants develop arrhythmogenic cardiomyopathy (ACM), and in some cases, the heart may also show features of dilated cardiomyopathy (DCM).
Some individuals may experience arrhythmias before any clear changes in heart size or pumping function are seen.
What this means for your care
Because PKP2 variants are strongly associated with heart rhythm issues, regular monitoring is essential. These rhythm changes can sometimes occur even before there are visible changes to the heart muscle. Your care team will use regular checkups to assess your risk and determine if a protective ICD is appropriate for you.
Because PKP2 cardiomyopathy is genetic, your family members may also benefit from testing. Parents, siblings, and children each have a 50% chance of carrying the same variant. Click here for practical tips on talking with your family members about your genetic results.
You did not cause this. Genetic variations are a natural part of human biology. Knowing this information now gives you and your care team a powerful tool to protect your heart health and guide your long‑term care.
Why Specialized Care Matters
Because PKP2 variants are unique, your care should be too. While a general cardiologist is a great starting point, managing genetic cardiomyopathy usually requires a cardiomyopathy genetics specialist.
To find a cardiomyopathy specialist, please click here.
“In a community matched to your exact diagnosis, families get support that helps them thrive.”
Sharisse Jiminez
Genetic Counselor
“Connecting with families who share your diagnosis can provide support, understanding, and sense of community.”
Sharisse Jimenez-Cyrus
Genetic Counselor
Watch a 2-minute message from our Executive Director, Greg Ruf
Connection & Support for PKP2 Cardiomyopathy Patients
You are part of a supportive community.
“Finding the PKP2 result felt like finally getting the owner’s manual for my heart.”
If you would like to connect with others, you can join our private PKP2 Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others walking a similar path.
Watch & Learn about PKP2 Cardiomyopathy
Real patients, real doctors, real stories. Watch when you’re ready.
Gene Therapy Clinical Trials for Genetic Cardiomyopathies with Lexeo Therapeutics | 64 min.
Gene Therapy Breakthroughs for Cardiomyopathies: Insights into Tenaya’s Clinical Trials | 60 min.
Dr. Hugh Calkins Discusses the PKP2 Gene Variant | 60 min.
PKP2 Clinical Trials & Research
Progress in this field is steady and continually evolving. We currently know of more than 30 companies that are working on potential new cardiomyopathy therapies (mostly gene-specific), but many have not reached the clinical trial phase yet. We encourage you to visit our clinical trials and research page to view available opportunities that might be right for you.
Be sure to fill out the form below so that we can contact you when we know of any relevant trials or research opportunities. Staying connected means you remain part of the progress, even before specific clinical trials or research studies exist.
DES Webinars
BAG3 DCM Gene Therapy Clinical Trial Studies Webinar – 4.15.2026 | 61 min.
Affinia BAG3 DCM – UPBEAT Clinical Trial Webinar- 6.10.2026 | 1 hr 6 min.
Frequently asked questions about PKP2 Cardiomyopathy
What is the PKP2 gene?
The PKP2 gene helps make plakophilin-2, a protein that holds heart muscle cells together. Certain disease-causing PKP2 variants are linked to arrhythmogenic cardiomyopathy, especially arrhythmogenic right ventricular cardiomyopathy (ARVC). A genetic counselor can explain what your specific genetic test result means.
What is PKP2-related arrhythmogenic cardiomyopathy?
It is a condition that can affect the heart muscle and cause abnormal heart rhythms. Although ARVC is named for the right ventricle, your care team will assess the whole heart. Rhythm changes may sometimes be found before noticeable changes in heart size or pumping function, which is why follow-up matters even if you feel well.
Does a PKP2 variant mean I will develop heart disease?
Not necessarily. People with a disease-causing PKP2 variant can develop different findings at different ages, and some may have no detectable heart changes when first tested. A variant of uncertain significance (VUS) does not establish a diagnosis on its own. Ask a genetic counselor what your result means and whether you need ongoing heart screening.
What symptoms should I tell my care team about?
Tell your care team about a racing or irregular heartbeat, dizziness, fainting, chest discomfort, shortness of breath, or a change in your ability to exercise. Unexplained fainting needs prompt medical evaluation. Some abnormal rhythms cause few symptoms, so keep your recommended appointments even when you feel well.
Is exercise safe if I have a PKP2 variant?
Physical activity is an individual decision to make with your cardiomyopathy specialist. Research has linked frequent, high-intensity exercise with a greater risk of developing or worsening arrhythmogenic cardiomyopathy in some people with disease-causing variants. Ask your specialist what types and amounts of activity are appropriate for your genetic result and heart findings.
Should my family members have genetic testing?
If your PKP2 genetic test finds a pathogenic or likely pathogenic variant, biological relatives may benefit from targeted testing and heart screening. PKP2-related ARVC usually follows an autosomal dominant inheritance pattern: each child of someone with a disease-causing variant has a 50% chance of inheriting it. A genetic counselor can help your family plan the appropriate next steps.
What follow-up care might I need?
Your specialist may recommend an electrocardiogram (ECG), heart rhythm monitoring, an echocardiogram, or a cardiac MRI. These tests help assess changes in heart muscle and rhythm. Your care team will use the results to plan follow-up and discuss whether treatment, including an implantable cardioverter-defibrillator (ICD), is appropriate.
Where can I connect with others affected by PKP2 cardiomyopathy?
GCAC’s PKP2 support group offers a place for patients and families to share experiences and find support. Sign up via the form below.
Join the PKP2 community
Be the first to know about new research, clinical trials, and helpful resources for people and families affected by PKP2 variants.
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Have a different gene? Search here.
A Message of Hope
Many biopharma companies and researchers are working on advanced treatments for genetic cardiomyopathies. We anticipate new clinical trials and research opportunities in the near future. You found this community at the right moment. Welcome.