Overview
Maternally-inherited mitochondrial hypertrophic cardiomyopathy is a rare heart condition caused by changes (mutations) in mitochondrial DNA — the genetic material found in the energy-producing parts of your cells called mitochondria. Because mitochondrial DNA is passed down only from mothers to their children, this condition follows a maternal inheritance pattern, meaning an affected mother will pass it to all of her children, but an affected father will not pass it on. In this condition, the walls of the heart — especially the left ventricle — become abnormally thick (hypertrophied). This thickening makes it harder for the heart to pump blood efficiently and can lead to symptoms such as shortness of breath, chest pain, fatigue, dizziness, fainting, and irregular heartbeats (arrhythmias). Because mitochondria are the powerhouses of cells, organs with high energy demands like the heart are especially vulnerable when mitochondrial function is impaired. Note: This entry has been marked as 'OBSOLETE' in Orphanet, meaning it may have been reclassified or merged into a broader category of mitochondrial cardiomyopathies. Patients and families should discuss the most current classification with their geneticist. Treatment is generally supportive and focuses on managing heart symptoms, monitoring for dangerous heart rhythms, and addressing any other organ involvement that may occur with mitochondrial disease. There is currently no cure, but medications and lifestyle adjustments can help manage symptoms and improve quality of life.
Key symptoms:
Thickening of the heart muscleShortness of breath, especially during exerciseChest pain or tightnessFatigue and low energyDizziness or lightheadednessFainting or near-fainting episodesIrregular or rapid heartbeat (palpitations)Exercise intoleranceSwelling in the legs or anklesHearing loss (sometimes associated with mitochondrial disease)Muscle weaknessDifficulty breathing when lying flat
Mitochondrial
Passed from mother to child through the energy-producing parts of the cell
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific mitochondrial mutation do I have, and what does it mean for my heart and other organs?,How often should I have heart imaging and rhythm monitoring?,Are there any physical activities I should avoid, and what level of exercise is safe for me?,Should my family members on my mother's side be tested for this condition?,Am I at risk for sudden cardiac death, and should I consider an implantable defibrillator?,Are there any supplements or medications that might help support my mitochondrial function?,Are there any clinical trials or new treatments I should know about?
Common questions about OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy
What is OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy?
Maternally-inherited mitochondrial hypertrophic cardiomyopathy is a rare heart condition caused by changes (mutations) in mitochondrial DNA — the genetic material found in the energy-producing parts of your cells called mitochondria. Because mitochondrial DNA is passed down only from mothers to their children, this condition follows a maternal inheritance pattern, meaning an affected mother will pass it to all of her children, but an affected father will not pass it on. In this condition, the walls of the heart — especially the left ventricle — become abnormally thick (hypertrophied). This th
How is OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy inherited?
OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy follows a mitochondrial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.