Thrive with your PLN 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 PLN 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 PLN 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 PLN email list. New PLN 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 PLN Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others on the same path.
Learn Through Video: Watch our expert video on PLN 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: Learn more about the PLN gene at https://plnfoundationna.com/
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 PLN Gene
The “Calcium Regulator” of the Heart
The PLN gene provides instructions for making phospholamban, a protein that helps regulate calcium inside heart muscle cells. Calcium plays an important role in helping the heart contract and relax with each heartbeat, so PLN helps keep the heart beating in a coordinated and efficient way.
What happens when PLN is not working properly?
When the PLN protein is not working as it should (specifically the p.Arg14del variant), heart muscle cells may have trouble handling calcium normally. Over time, this can make the heart muscle weaker, stiffer, or less efficient at pumping blood.
Some people with PLN variants develop dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), or features of both conditions. Abnormal heart rhythms (arrhythmias) may sometimes occur before major changes are seen in heart structure or pumping function.
What this means for your care
Because PLN-related cardiomyopathy can increase the risk of heart rhythm problems and muscle weakening, regular monitoring is essential. These rhythm issues can sometimes develop before the heart muscle shows significant change. Your care team will use specialized checkups to assess your risk and determine if a protective ICD is appropriate for you.
Because PLN 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 PLN 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 PLN Cardiomyopathy Patients
You are part of a supportive community.
“Finding the PLN 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 PLN Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others walking a similar path.
Watch & Learn about PLN Cardiomyopathy
Real patients, real doctors, real stories. Watch when you’re ready.
Dr Roger Hajjar dicusses PLN Gene Variant | 19 min.
PLN 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 PLN Cardiomyopathy
What is the PLN gene?
The PLN gene provides instructions for making phospholamban, a protein that helps regulate calcium inside heart muscle cells. Calcium helps the heart contract and relax with each beat. Certain disease-causing PLN variants can disrupt that process and contribute to cardiomyopathy. A genetic counselor can explain what your specific result means.
What is the PLN p.Arg14del variant?
PLN p.Arg14del, also called PLN R14del, is one particular disease-causing change in the PLN gene. It has been linked to dilated and arrhythmogenic cardiomyopathy. Research about R14del should not automatically be applied to every PLN variant, so ask your care team which variant you have and what it means for you.
How can PLN cardiomyopathy affect the heart?
Some people develop dilated cardiomyopathy (DCM), in which the heart becomes enlarged and weakened. Others have features of arrhythmogenic cardiomyopathy, including abnormal heart rhythms. Heart findings can differ between people, even within the same family. Your specialist will use your genetic result and heart tests to understand your situation.
Does having a disease-causing PLN variant mean I will have symptoms?
Not necessarily. Some people have no noticeable symptoms or detectable heart changes when first tested, and findings can change with age. A variant of uncertain significance (VUS) does not establish a genetic diagnosis on its own. Ask a genetics professional what your result means and whether ongoing heart screening is appropriate.
What symptoms should I tell my care team about?
Tell your care team about palpitations, dizziness, fainting, shortness of breath, unusual fatigue, swelling, or a change in how much activity you can manage. Unexplained fainting needs prompt medical evaluation. Regular follow-up remains important even when you feel well, because some heart changes cause few symptoms at first.
Should my family members have genetic testing?
If your PLN result is a pathogenic or likely pathogenic variant, a genetic counselor can help identify relatives who may benefit from targeted testing and heart screening. PLN-related cardiomyopathy generally follows an autosomal dominant inheritance pattern: each child of someone with a disease-causing variant has a 50% chance of inheriting it. Inheriting the variant does not predict exactly how the condition will affect an individual.
What follow-up care might I need?
Your specialist may recommend an electrocardiogram (ECG), heart rhythm monitoring, an echocardiogram, or a cardiac MRI. These checks look for changes in heart rhythm and pumping function. Your care team will use the findings to plan follow-up and discuss whether treatment or an implantable cardioverter-defibrillator (ICD) is appropriate for you.
Where can I connect with others affected by PLN cardiomyopathy?
GCAC’s PLN support group offers a place for patients and families to share experiences and find support. Sign up via the form below.
Join the PLN community
Be the first to know about new research, clinical trials, and helpful resources for people and families affected by PLN variants.
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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.