Overview
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is an extremely rare genetic condition that affects the heart and energy production in cells. It is caused by mutations in the MRPL44 gene, which plays an important role in how mitochondria — the tiny power plants inside our cells — make the proteins they need to produce energy. When this gene does not work properly, the mitochondria cannot function normally, and organs that need a lot of energy, like the heart, are especially affected. The hallmark feature of this disease is hypertrophic cardiomyopathy, which means the heart muscle becomes abnormally thick, making it harder for the heart to pump blood effectively. This typically appears in infancy, often within the first months of life. Babies may show signs of heart failure, poor feeding, breathing difficulties, and failure to thrive. Because mitochondria supply energy throughout the body, other organs such as the liver and brain may also be affected, leading to additional symptoms like low muscle tone, developmental delays, and elevated lactic acid levels in the blood (lactic acidosis). There is currently no cure for this condition. Treatment focuses on managing symptoms, particularly supporting heart function and addressing metabolic imbalances. The outlook varies but can be serious, as the heart problems may progress rapidly in some infants. Early diagnosis through genetic testing and close monitoring by a team of specialists are essential for providing the best possible care.
Also known as:
Key symptoms:
Thickened heart muscle (hypertrophic cardiomyopathy)Heart failure symptoms such as rapid breathing and poor circulationPoor feeding and difficulty gaining weightFailure to thriveLow muscle tone (floppiness)Developmental delaysHigh lactic acid levels in the bloodLiver problemsFatigue and low energyBreathing difficultiesIrritability or excessive cryingBluish skin color due to poor oxygen delivery
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency.
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 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.How severe is my child's heart condition right now, and what should I watch for?,What medications or supplements might help, and what are their side effects?,How often will my child need echocardiograms and other monitoring tests?,Are there any clinical trials or emerging treatments we should know about?,Should other family members be tested for carrier status?,What is the likelihood that future children could be affected?,When should we go to the emergency room, and what should we tell the ER doctors?
Common questions about Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
What is Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency?
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is an extremely rare genetic condition that affects the heart and energy production in cells. It is caused by mutations in the MRPL44 gene, which plays an important role in how mitochondria — the tiny power plants inside our cells — make the proteins they need to produce energy. When this gene does not work properly, the mitochondria cannot function normally, and organs that need a lot of energy, like the heart, are especially affected. The hallmark feature of this disease is hypertrophic cardiomyopathy, which means the heart musc
How is Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency inherited?
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency typically begin?
Typical onset of Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is infantile. Age of onset can vary across affected individuals.