Your First Steps After a PKP2 Genetic Result
You’re not alone. Here’s what to do next — and how we can help.
If you or a loved one has received a PKP2 genetic variant result…welcome. Whether you were recently diagnosed with arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), or recently discovered this genetic link after years of living with the condition, you are not alone. On this page, you will find information on signing up for research updates, immediate actions you can take, and details about PKP2 cardiomyopathy.
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
- Stay Informed About Research: New genetic cardiomyopathy clinical trials and findings are emerging quickly. Click here 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.
Building Your Care Plan (30-60 Days)
- 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 and heart rhythm stabilization. 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 PKP2
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.
Important: 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. You and your care team will work together on a strategy to protect your heart, with a primary focus on maintaining healthy blood pressure to reduce strain.
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.
Connection & Support
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.
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.
Clinical Trials & Research
This is an important moment in PKP2 history. Clinical trials and research are underway, working to shift care from “managing symptoms” to targeting the underlying genetic cause.
PKP2 cardiomyopathy clinical trials are currently recruiting patients. Click here to learn about current PKP2 clinical trials and research studies.
Not sure where to start?
Email us with your questions at info@geneticcardiomyopathy.org.
Want to stay updated on PKP2 clinical trials and research opportunities?
Research is evolving quickly. By filling out this contact form, you give us permission to notify you of relevant research and clinical trial opportunities as they arise.
- Strictly Private: Your data is never shared with third parties without your permission.
- Zero Pressure: You aren’t committing to anything.
- Your Choice: Opt-in or out of communications at any time.
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.
Contact us: info@geneticcardiomyopathy.org