Living with Fatal infantile encephalocardiomyopathy
A very rare mitochondrial disease of newborns and infants that affects the brain, heart and muscles.
Understanding Fatal infantile encephalocardiomyopathy
It affects the brain, heart and muscles (cardioencephalomyopathy). Mitochondria are the energy centers of cells. It is seen in newborns and infants.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes problems of the heart, brain and muscles.
- Heart muscle disease
- Brain and muscle disease
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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 genes cause it. GARD lists autosomal recessive and mitochondrial inheritance but doesn't name a gene.
Also known as: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile cox deficiency; fatal infantile cytochrome c oxidase deficiency
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Fatal infantile encephalocardiomyopathy.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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