Your First Steps After a DSP (Desmoplakin) 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 DSP genetic variant result…welcome. Whether you were recently diagnosed with dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), or arrhythmogenic right ventricular cardiomyopathy (ARVC), or you 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 DSP cardiomyopathy.
Your DSP 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
- Connect With Others: You don’t have to process this alone. Join the DSP Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others on the same path.
- Learn Through Video: Watch our expert video on DSP and check out our 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.
- Stay Informed About Research: New genetic cardiomyopathy clinical trials, research and findings are on the horizon. Click here to receive updates about future research and clinical trial opportunities.
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 to understand how your heart is functioning now and to create a reference point for the future. Additional evaluation may also include an EKG, echocardiogram, and sometimes heart rhythm monitoring. Because DSP variants can affect both heart muscle and heart rhythm, a comprehensive assessment helps guide early detection and ongoing care. Even if you feel well, regular follow-up may be recommended to monitor for any changes over time.
- 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 DSP: The Heart’s “Structural Glue”
The DSP gene helps create desmoplakin, a protein that acts like internal glue for your heart. It keeps muscle cells held firmly together during the constant stress of every heartbeat.
When DSP isn’t working properly:
As those cell-to-cell connections weaken, the heart muscle can become vulnerable to:
- Inflammation and scarring (fibrosis).
- Irregular heart rhythms (arrhythmias).
- Muscle weakening, leading to conditions like ACM, ARVC, LVNC, or DCM.
What this means for your care: Because DSP variants can cause heart rhythm issues even before the muscle weakens, regular monitoring and specialized care, including the potential for a protective ICD, are essential.
Beyond the Heart
Since desmoplakin is also found in other tissues, some people with the DSP variant may notice physical traits like:
- Unusually curly or sparse hair.
- Thickened skin on the palms or soles of the feet.
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 DSP 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 DSP 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 DSP Cardiomyopathy Facebook community to ask questions, share experiences, and hear from others walking a similar path.
Why Specialized Care Matters
Because DSP 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 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.
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 DSP 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