Fatal Infantile Hypertrophic Cardiomyopathy Due To Mitochondrial Complex I Deficiency Cn242288
A severe heart condition in infants caused by defective energy production in cells. Supportive care is used; the condition is often life-threatening in early infancy.
Key facts at a glance
- ICD-10
- I78.0
- ICD-11
- BA00.0
- Body system
- cardiovascular
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Chest discomfort or palpitations
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Heart failure
Arrhythmia
Sudden cardiac arrest
Feeding difficulties
(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 Function Monitoring
Regular echocardiograms and ECG monitoring to track cardiomyopathy progression and cardiac function in affected infants.
Disease management and monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Cardiac Supportive Medication
General cardiac supportive medications may be prescribed to help manage symptoms and support heart function, as determined by a pediatric cardiologist.
Additional treatment options
Mitochondrial Supportive Nutrition
Specialized nutritional support with emphasis on foods and supplements that may support mitochondrial function, including CoQ10 and B-vitamins.
dietaryFamily Psychological Support
Psychological counseling and support services for families navigating the challenges of caring for an infant with a severe mitochondrial disorder.
psychologicalCoenzyme Q10 Supplementation
Coenzyme Q10 supplementation may be considered as a complementary approach to support mitochondrial electron transport chain function.
complementaryWhen 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 Fatal Infantile Hypertrophic Cardiomyopathy Due To Mitochondrial Complex I Deficiency Cn242288?
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.
Fernandez-Vizarra E, Tiranti V, Zeviani M. Mitochondrial complex I deficiency: from tissue to gene. J Inherit Metab Dis. 2021.
Parikh S, Goldstein A, Karaa A, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2022.
Scaglia F, Towbin JA, Greatbatch W, et al. Clinical spectrum, morbidity, and mortality in 118 pediatric patients with mitochondrial cardiomyopathy. Pediatr Cardiol. 2020.
Huang JH, Thorburn DR, Ryan M. Cardiac manifestations of mitochondrial disorders in infancy. Nat Rev Cardiol. 2019.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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