Your First Steps After a RBM20 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 an RBM20 genetic variant result…welcome. Whether you were recently diagnosed with an RBM20-related cardiomyopathy, such as dilated cardiomyopathy (DCM), have experienced arrhythmias or heart-related symptoms for years, or have 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 RBM20 cardiomyopathy.
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
- 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 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 (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. 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 RBM20
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.
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 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.
Connection & Support
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.
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.
Clinical Trials & Research
Progress in this field is steady and continually evolving. We currently know of over 30 companies working on potential new cardiomyopathy therapies (mostly gene-specific), but many have not yet reached the clinical trial phase. 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 we can contact you when we become aware 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.
Learn about current clinical trials and research studies.
Not sure where to start?
Email us with your questions at info@geneticcardiomyopathy.org.
Want to stay updated on RBM20 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