Living with Dilated cardiomyopathy 1J
An extremely rare inherited condition with hearing loss from childhood and heart muscle weakness later in life.
Understanding Dilated cardiomyopathy 1J
It has been described in two families. Moderate to severe hearing loss appears in childhood. Later in life, the heart muscle stretches and thins (dilated cardiomyopathy), which generally progresses to heart failure. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Stretched, thinned heart muscle (dilated cardiomyopathy)
- Heart failure
- Repeated middle ear infections
- Abnormal heart pumping
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 genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in EYA4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); 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
Changes in the EYA4 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; cardiomyopathy, dilated, type 1j; cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant; cmd1j; dilated cardiomyopathy type 1j; eya4 familial dilated cardiomyopathy
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 Dilated cardiomyopathy 1J.
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