Thrive with your PRKAG2 Cardiomyopathy
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 PRKAG2 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 PRKAG2 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 PRKAG2 email list. New PRKAG2 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 PRKAG2 Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others on the same path.
Learn Through Video: 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.
Take these resources with you:
Download and print the Doctor Discussion Guide to help you feel organized and confident as you navigate your diagnosis.
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.
Understanding PRKAG2 Cardiomyopathy
The Heart’s Energy Management System
The PRKAG2 gene provides instructions for making part of an important cellular energy sensor called AMP-activated protein kinase (AMPK). This protein helps heart muscle cells regulate how they produce, store, and use energy.
What happens when PRKAG2 is not working properly?
When the PRKAG2 protein is not functioning as it should, heart muscle cells can accumulate excess glycogen (stored sugar). Over time, this buildup may cause the heart muscle to become thickened and can interfere with the heart’s normal electrical system.
People with PRKAG2 cardiomyopathy may develop:
- Left ventricular hypertrophy (heart muscle thickening)
- Heart rhythm abnormalities (arrhythmias)
- Electrical conduction disease
- Wolff-Parkinson-White (WPW) syndrome or other ventricular pre-excitation syndromes
- Heart failure in some individuals
Although PRKAG2 cardiomyopathy may resemble hypertrophic cardiomyopathy (HCM), it’s not caused by the same kind of gene changes. Most HCM is caused by changes in genes that build the heart’s contracting machinery (called sarcomeres). PRKAG2 cardiomyopathy instead comes from a problem with the heart’s energy system, causing a buildup of stored sugar (glycogen) in heart muscle cells. Because treatment and family counseling may differ from more common forms of HCM, an accurate genetic diagnosis is especially important.
What this means for your care
Because PRKAG2 cardiomyopathy can affect both the heart muscle and the heart’s electrical conduction system, regular monitoring and specialized care are especially important. Your healthcare team may recommend routine heart imaging, rhythm monitoring, medications, evaluation by an electrophysiologist (heart rhythm specialist), a pacemaker or implantable cardioverter-defibrillator (ICD) therapy when appropriate, or referral to an advanced heart failure center if needed.
Because PRKAG2 cardiomyopathy is genetic, your family members may also benefit from genetic counseling and testing. Parents, siblings, and children each have a 50% chance of carrying the same disease-causing 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 PRKAG2 variants are unique, your care should be too. While a general cardiologist is a great starting point, managing PRKAG2 cardiomyopathy usually requires a cardiomyopathy genetics specialist with experience caring for patients with inherited heart conditions and cardiac conduction disorders.
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 PRKAG2 Cardiomyopathy Patients
You are part of a supportive community.
“Finding the PRKAG2 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 PRKAG2 Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others walking a similar path.
Watch & Learn about the PRKAG2 Cardiomyopathy
Real patients, real doctors, real stories. Watch when you’re ready.
Atrium RNA Approach to Rare Cardiomyopathies Webinar | 66 min.
PRKAG2 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 PRKAG2 Cardiomyopathy
What is PRKAG2 cardiomyopathy?
PRKAG2 cardiomyopathy is an inherited heart condition caused by certain disease-causing variants in the PRKAG2 gene. The gene helps heart cells manage energy. Some variants cause stored sugar, called glycogen, to build up in heart muscle cells.
This can thicken the heart muscle and affect its electrical signals. A genetic counselor can explain what your specific test result means.
How is PRKAG2 cardiomyopathy different from other forms of hypertrophic cardiomyopathy?
PRKAG2 cardiomyopathy can resemble hypertrophic cardiomyopathy (HCM) because the heart muscle may become thickened. It can also affect the heart’s electrical system, causing fast rhythms or problems with how electrical signals travel through the heart.
Knowing the genetic cause helps your care team plan both heart muscle and heart rhythm follow-up.
What is the connection between PRKAG2 and Wolff-Parkinson-White syndrome?
Some people with a disease-causing PRKAG2 variant have Wolff-Parkinson-White (WPW) syndrome, in which an extra electrical pathway can allow signals to travel through the heart unusually quickly. WPW can cause episodes of a rapid heartbeat. Not everyone with PRKAG2 cardiomyopathy has WPW, so your care team will assess your own heart rhythm findings.
What symptoms should I tell my doctor about?
Tell your care team about a racing or irregular heartbeat, palpitations, dizziness, fainting, chest discomfort, shortness of breath, unusual fatigue, or a change in your ability to exercise. These symptoms may be related to changes in the heart muscle or its electrical system.
Seek prompt medical evaluation for unexplained fainting or a rapid heartbeat that does not go away. Some heart rhythm changes may cause few or no noticeable symptoms, so regular follow-up remains important even when you feel well.
Should my family members have genetic testing?
If you have a pathogenic or likely pathogenic PRKAG2 variant, biological relatives may benefit from genetic counseling, targeted testing, and heart evaluation. PRKAG2-related disease usually follows an autosomal dominant inheritance pattern: each child of someone with a disease-causing variant has a 50% chance of inheriting that variant. Inheriting it does not predict exactly how or when symptoms will develop.
What follow-up care might I need?
Your specialist may recommend heart imaging, an electrocardiogram (ECG), and monitoring for abnormal heart rhythms. Follow-up looks for changes in both the heart muscle and its electrical system. Some people may also need assessment by an electrophysiologist, a doctor who specializes in heart rhythms. Your care plan will depend on your symptoms and test results.
Where can I connect with others affected by PRKAG2?
GCAC’s PRKAG2 support group offers a place for patients and families to share experiences and find support. You can also use the PRKAG2 page to sign up for research and community updates.
Join the PRKAG2 community
Be the first to know about new research, clinical trials, and helpful resources for people and families affected by PRKAG2 variants.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.
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.