Overview
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation is a very rare condition caused by changes (mutations) in the DNA found inside mitochondria — the tiny energy-producing structures in nearly every cell of your body. Because mitochondria are responsible for generating the energy that cells need to function, mutations in mitochondrial DNA can affect organs that require a lot of energy, especially the heart and kidneys. In this condition, the heart muscle becomes abnormally thick (hypertrophic cardiomyopathy), which makes it harder for the heart to pump blood efficiently. At the same time, the kidneys may develop structural or functional problems (kidney anomalies), which can affect how well the body filters waste and maintains fluid balance. Symptoms can include shortness of breath, fatigue, chest pain, irregular heartbeat, swelling in the legs or ankles, and signs of kidney dysfunction such as changes in urine output or elevated blood pressure. There is currently no cure for this disease. Treatment focuses on managing symptoms and protecting heart and kidney function. Medications may be used to control heart rhythm, reduce the workload on the heart, and manage blood pressure. In severe cases, procedures or devices such as implantable defibrillators may be needed. Kidney problems may require their own set of treatments, including medications or, in advanced cases, dialysis. Because this is a mitochondrial disorder, a team of specialists is usually involved in care.
Also known as:
Key symptoms:
Thickened heart muscleShortness of breath, especially with activityFatigue and low energyChest pain or discomfortIrregular or rapid heartbeat (palpitations)Fainting or near-fainting episodesSwelling in the legs, ankles, or feetKidney problems or abnormal kidney structureHigh blood pressureChanges in urine outputExercise intoleranceDizziness or lightheadednessHearing loss (sometimes seen in mitochondrial diseases)Muscle weakness
Clinical phenotype terms (20)— hover any for plain English
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 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation.
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Specialists
View all specialists →No specialists are currently listed for Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation.
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 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation.
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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 DNA mutation is causing this condition in my family?,How severe is the heart thickening, and what is the current risk for dangerous heart rhythms?,How are my kidneys functioning right now, and what should I watch for?,Are there any medications or supplements I should take — or avoid — because of the mitochondrial issue?,Should other family members (especially on the maternal side) be tested?,What activity restrictions do I need to follow, and are there safe forms of exercise?,Are there any clinical trials or emerging treatments I should know about?
Common questions about Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
What is Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation?
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation is a very rare condition caused by changes (mutations) in the DNA found inside mitochondria — the tiny energy-producing structures in nearly every cell of your body. Because mitochondria are responsible for generating the energy that cells need to function, mutations in mitochondrial DNA can affect organs that require a lot of energy, especially the heart and kidneys. In this condition, the heart muscle becomes abnormally thick (hypertrophic cardiomyopathy), which makes it harder for the heart to pump blood ef
How is Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation inherited?
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation follows a mitochondrial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.