Overview
Congenital disorder of glycosylation with cardiac malformation as a major feature (sometimes called CDG with heart defects) is a group of rare inherited metabolic conditions that affect how the body adds sugar chains (called glycans) to proteins and fats. These sugar chains are essential for many body functions, and when they are not made correctly, multiple organs can be affected. In this particular group of CDGs, the heart is one of the most significantly affected organs, with babies often being born with structural heart defects such as holes between heart chambers, abnormal heart valves, or other malformations of the heart. Beyond the heart, affected children may also experience developmental delays, poor growth, low muscle tone, liver problems, and abnormalities in blood clotting. The severity can vary widely depending on the specific genetic cause. Some children have mild heart defects that can be surgically corrected, while others have more complex multi-organ involvement. Treatment is largely supportive and depends on the specific symptoms each child has. Heart defects may require surgical repair or monitoring by a cardiologist. Developmental therapies, nutritional support, and management of other organ complications are important parts of care. For a very small number of CDG subtypes, specific treatments such as mannose supplementation exist, but for most forms, there is no cure and management focuses on improving quality of life and addressing individual symptoms as they arise.
Also known as:
Key symptoms:
Heart defects present at birthPoor growth and failure to thriveLow muscle tone (floppiness)Developmental delaysIntellectual disabilityLiver problemsAbnormal blood clotting or easy bleedingSeizuresFeeding difficultiesAbnormal fat distributionInverted nipplesCrossed eyes or other eye problemsSkeletal abnormalitiesRecurrent infectionsFluid retention or swelling
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 Congenital disorder of glycosylation with cardiac malformation as a major feature.
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Specialists
View all specialists →No specialists are currently listed for Congenital disorder of glycosylation with cardiac malformation as a major feature.
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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Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.What specific type of CDG does my child have, and which gene is affected?,How severe is my child's heart defect, and will surgery be needed?,What other organs should we be monitoring, and how often?,Are there any specific treatments or supplements that could help my child's particular CDG subtype?,What developmental therapies should we start, and how soon?,What are the warning signs that I should watch for at home that would require emergency care?,Is genetic counseling available for our family to understand the chance of this happening in future pregnancies?
Common questions about Congenital disorder of glycosylation with cardiac malformation as a major feature
What is Congenital disorder of glycosylation with cardiac malformation as a major feature?
Congenital disorder of glycosylation with cardiac malformation as a major feature (sometimes called CDG with heart defects) is a group of rare inherited metabolic conditions that affect how the body adds sugar chains (called glycans) to proteins and fats. These sugar chains are essential for many body functions, and when they are not made correctly, multiple organs can be affected. In this particular group of CDGs, the heart is one of the most significantly affected organs, with babies often being born with structural heart defects such as holes between heart chambers, abnormal heart valves, o
At what age does Congenital disorder of glycosylation with cardiac malformation as a major feature typically begin?
Typical onset of Congenital disorder of glycosylation with cardiac malformation as a major feature is neonatal. Age of onset can vary across affected individuals.