Cardioencephalomyopathy Fatal Infantile Due To Cytochrome C Oxidase Deficiency 3 C4225154
A mitochondrial disorder impairing cellular energy production, causing heart and brain dysfunction in infancy. Like related forms, this condition requires intensive supportive management to address life-threatening complications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Lactic acidosis
Cardiomyopathy
Encephalopathy
Muscle hypotonia
(musculoskeletal)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
Continuous Cardiac Function Assessment
Serial cardiac evaluations including ECGs, echocardiograms, and Holter monitoring to detect and manage cardiomyopathy and conduction abnormalities associated with this mitochondrial disorder.
Elective procedure with pre- and post-procedure care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Calorie-Dense Enteral Nutrition
Specialized enteral feeding protocols using calorie-dense formulas to overcome the significant metabolic challenges and maintain adequate nutrition when oral intake is inadequate.
Additional treatment options
Mitochondrial Cofactor Supplementation
Administration of supplements including Coenzyme Q10, L-carnitine, and other mitochondrial cofactors that may support electron transport chain function, though efficacy varies individually.
complementaryAirway and Respiratory Management
Comprehensive respiratory care including suctioning, chest physiotherapy, and ventilatory support as needed to manage pulmonary complications from muscular weakness.
procedureFamily Psychological Support Services
Psychological counseling and support services for family members navigating the challenges of caring for an infant with a severe mitochondrial disease, including grief counseling and coping strategies.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Cardioencephalomyopathy Fatal Infantile Due To Cytochrome C Oxidase Deficiency 3 C4225154?
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.
Finsterer J, Mahjoub SZ. Mitochondrial cardiomyopathy in infancy and childhood. Mitochondrion. 2021.
Parikh S, Goldstein A, Karaa A, et al. Patient care standards for the diagnosis and management of mitochondrial diseases in children and adults. Mol Genet Metab. 2022.
Nishimura T, Sugimura M, Yamamoto Y, et al. Cytochrome c oxidase deficiency presenting as fatal infantile cardioencephalomyopathy: clinical and molecular characterization. Neurology. 2020.
Shesselguba M, Alston C, McFarland R, et al. Pulmonary hypertension in mitochondrial disease: a systematic review and meta-analysis. J Inherit Metab Dis. 2023.
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