Overview
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency is a very rare and severe heart condition that affects babies, typically appearing in the first months of life. Note that this disease entry has been marked as 'obsolete' in medical databases, meaning it has been reclassified or merged into broader categories of mitochondrial complex I deficiency disorders. In this condition, the heart muscle becomes abnormally thick (hypertrophic cardiomyopathy), which makes it harder for the heart to pump blood effectively. The root cause is a problem with complex I, which is a key part of the energy-producing machinery inside cells called mitochondria. When complex I does not work properly, cells — especially those in energy-demanding organs like the heart — cannot make enough energy to function normally. Babies with this condition typically develop signs of heart failure early in life, including difficulty breathing, poor feeding, and failure to thrive. The disease progresses rapidly and is unfortunately associated with a very poor outcome. Treatment is mainly supportive, focusing on managing heart failure symptoms and providing nutritional support. There are currently no curative treatments available, though research into mitochondrial diseases continues to advance.
Also known as:
Key symptoms:
Thickened heart muscle (hypertrophic cardiomyopathy)Difficulty breathingPoor feedingFailure to gain weight and growExtreme tiredness and low energyRapid heartbeatBluish skin color (cyanosis)Swelling in the legs or abdomenLow muscle tone (floppiness)Lactic acidosis (buildup of acid in the blood)Liver problemsDevelopmental delays
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I 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 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency.
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 is the specific genetic cause of my baby's condition, and does it affect how the disease might progress?,Are there any supplements or medications that might help support my baby's heart or mitochondrial function?,What signs should I watch for that would mean I need to bring my baby to the emergency room?,Are there any clinical trials or experimental treatments available for this condition?,What palliative care and family support services are available to us?,What does this diagnosis mean for future pregnancies — what are the chances of having another affected child?,Can you refer us to a center that specializes in mitochondrial diseases?
Common questions about OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
What is OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency?
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency is a very rare and severe heart condition that affects babies, typically appearing in the first months of life. Note that this disease entry has been marked as 'obsolete' in medical databases, meaning it has been reclassified or merged into broader categories of mitochondrial complex I deficiency disorders. In this condition, the heart muscle becomes abnormally thick (hypertrophic cardiomyopathy), which makes it harder for the heart to pump blood effectively. The root cause is a problem with complex I, which
At what age does OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency typically begin?
Typical onset of OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency is infantile. Age of onset can vary across affected individuals.