Living with Dilated cardiomyopathy 1E
An inherited heart condition linked to the SCN5A gene, with an enlarged, weakened heart and rhythm problems.
Understanding Dilated cardiomyopathy 1E
People may develop an enlarged and weakened heart, which can lead to heart failure. Symptoms can include shortness of breath, tiredness, swelling in the legs and feet, an irregular heartbeat, fainting, and chest pain.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these:
- Shortness of breath
- Fatigue
- Swelling in the legs and feet
- Irregular heartbeat
- Fainting episodes
- Chest pain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
A change in the SCN5A gene causes this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: cardiomyopathy dilated with conduction defect type 2; cardiomyopathy, dilated, 1e; cardiomyopathy, dilated, type 1e; cardiomyopathy, dilated, with conduction defect 2; cardiomyopathy, dilated, with conduction disorder and arrhythmia; cdcd2
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dilated cardiomyopathy 1E.
Explore research for Dilated cardiomyopathy 1E
Explore actively recruiting Dilated cardiomyopathy 1E studies with HealthSpark.
Find actively recruiting studies for Dilated cardiomyopathy 1E with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Dilated cardiomyopathy 1E studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Dilated cardiomyopathy 1E
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Dilated cardiomyopathy 1E experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.