Overview
Congenital disorder of glycosylation with dilated cardiomyopathy is an extremely rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins. This process, known as glycosylation, is essential for many proteins to work properly throughout the body. When glycosylation does not work correctly, it can affect multiple organs, but in this particular form, the heart is especially impacted. The hallmark feature is dilated cardiomyopathy, a condition where the heart muscle becomes stretched and weakened, making it harder for the heart to pump blood effectively. Patients with this condition may show signs of heart failure early in life, including difficulty breathing, poor feeding, failure to thrive, and fatigue. Because glycosylation affects many body systems, patients may also experience developmental delays, low muscle tone, liver problems, and other multi-system symptoms depending on the specific genetic cause. Treatment is currently focused on managing symptoms, particularly supporting heart function with medications used for heart failure. In severe cases, heart transplantation may be considered. There is no cure at this time, and management requires a team of specialists working together. Research into targeted therapies, including potential sugar supplementation strategies for certain subtypes, is ongoing but still limited for this specific form of the disease.
Also known as:
Key symptoms:
Enlarged and weakened heart (dilated cardiomyopathy)Heart failure symptoms such as shortness of breathPoor feeding in infancyFailure to thrive or poor weight gainLow muscle tone (floppiness)Developmental delaysFatigue and low energySwelling in the legs or abdomen from fluid buildupLiver problemsRecurrent infectionsAbnormal blood clottingSeizures in some casesLow blood sugar episodes
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 Congenital disorder of glycosylation with dilated cardiomyopathy.
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Specialists
View all specialists →No specialists are currently listed for Congenital disorder of glycosylation with dilated 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 Congenital disorder of glycosylation with dilated cardiomyopathy.
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2 articlesCaregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene is causing my child's condition, and what does that mean for their outlook?,How severe is my child's heart involvement right now, and how will you monitor it over time?,Are there any targeted treatments or clinical trials available for our specific type of CDG?,What signs of worsening should I watch for at home, and when should I go to the emergency room?,Will my child need a heart transplant, and when would that be considered?,What is the chance of having another child with this condition, and is prenatal testing available?,What developmental support services should we set up for my child?
Common questions about Congenital disorder of glycosylation with dilated cardiomyopathy
What is Congenital disorder of glycosylation with dilated cardiomyopathy?
Congenital disorder of glycosylation with dilated cardiomyopathy is an extremely rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins. This process, known as glycosylation, is essential for many proteins to work properly throughout the body. When glycosylation does not work correctly, it can affect multiple organs, but in this particular form, the heart is especially impacted. The hallmark feature is dilated cardiomyopathy, a condition where the heart muscle becomes stretched and weakened, making it harder for the heart to pump blood effec
How is Congenital disorder of glycosylation with dilated cardiomyopathy inherited?
Congenital disorder of glycosylation with dilated cardiomyopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital disorder of glycosylation with dilated cardiomyopathy typically begin?
Typical onset of Congenital disorder of glycosylation with dilated cardiomyopathy is infantile. Age of onset can vary across affected individuals.