Overview
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease is a very rare and severe condition that affects newborns. It is sometimes called congenital glycogen storage cardiomyopathy or, in some forms, Danon disease (when caused by LAMP2 gene changes) or PRKAG2 cardiomyopathy. In this disease, the body cannot properly break down or store a sugar called glycogen. As a result, glycogen builds up inside heart muscle cells, causing the heart walls to become abnormally thick. This thickening is called hypertrophic cardiomyopathy, and it makes it very hard for the heart to pump blood effectively. Babies born with this condition typically show signs of heart failure very early in life, sometimes within hours or days of birth. The heart becomes so enlarged and stiff that it cannot keep up with the body's needs. Symptoms include rapid breathing, poor feeding, low oxygen levels, and a bluish skin color. The condition can also affect the liver and muscles in some forms. Unfortunately, this disease is often fatal in the newborn or early infant period, and there is currently no cure. Treatment focuses on supporting the heart and other organs for as long as possible. In some specific forms caused by enzyme deficiencies, enzyme replacement therapy may be tried, but outcomes remain very poor. Heart transplant has been considered in rare cases. Research into gene therapy and other targeted treatments is ongoing.
Also known as:
Key symptoms:
Abnormally thick heart walls (hypertrophic cardiomyopathy)Heart failure in the newborn periodRapid or labored breathingPoor feeding and difficulty gaining weightBluish skin color (cyanosis) due to low oxygenExtreme tiredness and low energyEnlarged heart visible on chest X-ray or ultrasoundLow blood pressureAbnormal heart rhythms (arrhythmias)Enlarged liver (hepatomegaly) in some formsMuscle weakness in some formsSwelling of the body (edema)
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease.
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Specialists
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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
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene or enzyme deficiency is causing my baby's condition, and how does that affect treatment options?,Is my baby a candidate for enzyme replacement therapy, and what results can we realistically expect?,Should we consider a heart transplant evaluation, and what would that process involve?,What does palliative care look like for my baby, and how can we ensure the best quality of life?,What is the risk that a future child would have the same condition, and should we pursue genetic testing for other family members?,Are there any clinical trials or experimental treatments we should know about?,What support services are available for our family during this time?
Common questions about Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
What is Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease?
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease is a very rare and severe condition that affects newborns. It is sometimes called congenital glycogen storage cardiomyopathy or, in some forms, Danon disease (when caused by LAMP2 gene changes) or PRKAG2 cardiomyopathy. In this disease, the body cannot properly break down or store a sugar called glycogen. As a result, glycogen builds up inside heart muscle cells, causing the heart walls to become abnormally thick. This thickening is called hypertrophic cardiomyopathy, and it makes it very hard for the heart to pump bl
At what age does Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease typically begin?
Typical onset of Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease is neonatal. Age of onset can vary across affected individuals.