Congenital Disorder Of Glycosylation With Cardiac Malformation As A Major Feature C5679906
A rare genetic disorder affecting protein glycosylation with heart defects as a primary concern. It often causes additional developmental and neurological problems. Treatment requires cardiac care and multidisciplinary support.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Arrhythmia
Congenital heart malformation
(cardiovascular)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(multisystem)Peripheral edema
(cardiovascular)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Cardiac Surgical Correction
Surgical intervention to repair structural cardiac defects such as septal defects, valve abnormalities, or other congenital heart malformations associated with CDG. Timing and type of surgery depends on the specific cardiac lesion and overall patient condition.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac Failure Management
Pharmacological management using diuretics, ACE inhibitors, or beta-blockers to manage heart failure symptoms and reduce cardiac workload. Monitoring of renal function is essential due to potential nephropathy comorbidity.
When to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Disorder Of Glycosylation With Cardiac Malformation As A Major Feature C5679906?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Morava E, Lefeber DJ, Wopschall J. Congenital disorders of glycosylation with cardiac involvement: clinical spectrum and molecular mechanisms. J Inherit Metab Dis. 2018;41(3):389-400.
Jaeken J, Matthijs G, Cassiman J-J. Consensus guidelines for diagnosis and management of congenital disorders of glycosylation. Mol Genet Metab. 2019;128(4):457-465.
Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurological aspects of human congenital disorders of glycosylation. Dev Med Child Neurol. 2021;63(2):156-164.
Dupuis T, de Lonlay P, Vuillaumier-Barrot S. Cardiac manifestations in congenital disorders of glycosylation: a multicenter retrospective study. Orphanet J Rare Dis. 2022;17(1):215.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy