Living with Maternally-inherited cardiomyopathy and hearing loss
A rare mitochondrial condition with hearing loss and heart muscle thickening, often with muscle and coordination problems.
Understanding Maternally-inherited cardiomyopathy and hearing loss
It combines worsening hearing loss from the inner ear with thickened heart muscle. Most people also have brain and muscle symptoms like poor coordination, slurred speech, and muscle weakness. Signs vary and start in childhood or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from the inner ear
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Poor coordination (ataxia) and slurred speech
- Muscle weakness
- Weak eye movement muscles
- Trouble exercising (exercise intolerance)
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 MT-TK 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, United Mitochondrial Disease Foundation and MitoAction 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, 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 Children's Cardiomyopathy 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 the MT-TK gene cause this condition. It is mitochondrial inheritance, meaning it is passed from mother to children through the mitochondria in egg cells.
Also known as: maternally inherited cardiomyopathy and deafness; maternally inherited cardiomyopathy and hearing loss syndrome; maternally-inherited cardiomyopathy and deafness; mitochondrial dna-related cardiomyopathy and hearing loss; mtdna-related cardiomyopathy and deafness; mtdna-related cardiomyopathy and hearing loss
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Maternally-inherited cardiomyopathy and hearing loss.
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