Living with Endocardial fibroelastosis
A heart condition where the inner lining of the heart thickens, mostly in young children.
Understanding Endocardial fibroelastosis
The thickening can make it harder for the heart to work well. It is most often seen in young children and rarely in adults. It can be linked to heart defects present at birth, infection, or gene changes. Symptoms are often seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff heart muscle (restrictive cardiomyopathy)
- Heart failure
- Seizures
- Trouble with thinking and learning (cognitive impairment)
- Small lower jaw (micrognathia)
- Undescended testes (cryptorchidism)
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
Specialists who may be involved include heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation
- 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 Children's Cardiomyopathy Foundation
- 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
GARD says it can be linked to heart defects at birth, infection, or gene changes. Changes in the TAZ gene cause one inherited form that runs in families.
Also known as: efe; efe - endocardial fibroelastosis; elastomyofibrosis; endomyocardial fibroelastosis
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
Broader rare-disease groups
- 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 Endocardial fibroelastosis.
Explore research for Endocardial fibroelastosis
Explore actively recruiting Endocardial fibroelastosis studies with HealthSpark.
Find actively recruiting studies for Endocardial fibroelastosis 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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