Thrive with your RBM20 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 RBM20 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 RBM20 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 RBM20 email list. New RBM20 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 RBM20 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
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 RBM20 Gene
The “Heart Function Regulator” of the Heart
The RBM20 gene provides instructions for making a protein that helps regulate important heart muscle proteins involved in contraction, flexibility, and electrical signaling. One of its key roles is helping the heart beat in a coordinated and efficient way.
What happens when RBM20 is not working properly?
When the RBM20 protein is not functioning as it should, the heart muscle may gradually weaken, enlarge, or become less effective at pumping blood. Many people with RBM20 variants develop dilated cardiomyopathy (DCM), and some may experience arrhythmias (abnormal heart rhythms), sometimes before significant heart muscle changes are detected.
Symptoms vary but may include fatigue, shortness of breath, palpitations, dizziness, chest discomfort, or reduced exercise tolerance.
What this means for your care
Because RBM20-related cardiomyopathy can develop gradually and may carry an increased risk of arrhythmias, regular monitoring is important. Your care team may use imaging and heart rhythm monitoring to assess changes over time and determine whether treatments, including a protective ICD, may be appropriate.
Because RBM20 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 RBM20 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 RBM20 Cardiomyopathy Patients
You are part of a supportive community.
“Finding the RBM20 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 RBM20 Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others walking a similar path.
RBM20 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 RBM20 Cardiomyopathy
What is the RBM20 gene?
The RBM20 gene helps cells process the instructions for making several heart muscle proteins, including titin, which contributes to the heart’s structure and flexibility. Certain disease-causing RBM20 variants can disrupt this process and lead to cardiomyopathy. A genetic counselor can help explain what your specific test result means.
How can RBM20 cardiomyopathy affect the heart?
RBM20-related cardiomyopathy most often appears as dilated cardiomyopathy (DCM), in which the heart becomes enlarged and pumps less effectively. Some people also develop abnormal heart rhythms. Heart findings and their timing can vary, so your care team will assess both heart function and rhythm.
Does an RBM20 variant mean I will develop cardiomyopathy?
Not every change in RBM20 causes disease, and a variant of uncertain significance (VUS) does not establish a genetic diagnosis on its own. Even when a variant is classified as disease-causing, a person may have no detectable heart changes when first tested. Ask a genetic counselor what your result means and what follow-up is appropriate for you.
What symptoms should I tell my care team about?
Tell your care team about shortness of breath, unusual fatigue, palpitations, dizziness, fainting, swelling, or a change in how much activity you can do. Unexplained fainting needs prompt medical evaluation. Some heart changes cause few symptoms at first, which makes recommended checkups important even when you feel well.
Should my family members have genetic testing?
If your RBM20 result is a pathogenic or likely pathogenic variant, a genetic counselor can help identify relatives who may benefit from targeted testing and heart screening. RBM20-related DCM usually 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 them.
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 track heart function and check for abnormal rhythms. Your care team will use your findings to plan follow-up and discuss whether medication or an implantable cardioverter-defibrillator (ICD) is appropriate.
Where can I connect with others affected by RBM20 cardiomyopathy?
GCAC’s RBM20 support group offers a place for patients and families to share experiences and find support. Sign up via the form below.
Join the RBM20 community
Be the first to know about new research, clinical trials, and helpful resources for people and families affected by RBM20 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.