Mitochondrial Dna Depletion Syndrome 14b Cardioencephalomyopathic Type C6065890
A severe mitochondrial disease affecting the heart, brain, and muscles. Usually begins in early childhood with life-threatening complications. Treatment focuses on managing symptoms and organ-specific support.
Key facts at a glance
- ICD-10
- Q24.9
- ICD-11
- LA00.0
- Body system
- cardiovascular
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Chest discomfort or palpitations
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Arrhythmia
Seizures
Dyspnea
(cardiovascular)Developmental delay
(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 and Neurological Surveillance
Comprehensive monitoring including echocardiograms for cardiomyopathy, EEG for seizure activity, and developmental assessments. MRI brain imaging may be needed to evaluate encephalopathic changes. Multidisciplinary follow-up with cardiology, neurology, and genetics is essential.
Disease management and monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Anticonvulsant Therapy
Antiepileptic medications tailored to seizure type; enzyme-inducing drugs should be used cautiously as they may interfere with other medications. Levetiracetam and lamotrigine are commonly used options. Cardiac medications may be needed if cardiomyopathy develops.
Additional treatment options
Mitochondrial Supportive Nutrition
High-calorie diet with adequate protein to meet metabolic demands. Supplementation with CoQ10, L-carnitine, B vitamins, and alpha-lipoic acid may support mitochondrial function. Enteral feeding support may be necessary if oral intake is inadequate.
dietaryNeurodevelopmental Support
Early intervention services including physical, occupational, and speech therapy to maximize functional abilities and support development. Stretching and positioning programs help prevent contractures. Assistive devices may be needed as disease progresses.
physical_therapyFamily Support and Genetic Counseling
Psychological support for patients and families dealing with progressive mitochondrial disease. Genetic counseling for family planning and carrier testing. Connection with support organizations and other affected families can provide valuable resources and emotional support.
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 Mitochondrial Dna Depletion Syndrome 14b Cardioencephalomyopathic Type C6065890?
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, Schubert C, Yamamoto Y. International consensus guidelines for mitochondrial disorders: including DNA depletion syndromes. Mitochondrion. 2022.
Suomalainen A, Isohanni P, Goetz J. Mitochondrial DNA depletion syndromes: clinical phenotypes and genetic basis. J Inherit Metab Dis. 2020.
Hirano M, Emmanuele V, Quinzii CM. Cardioencephalomyopathic mitochondrial DNA depletion syndrome: clinical and genetic characterization. Neurology. 2021.
Boczonadi V, Horvath R. Mitochondrial disorders. In: Rimoin D, Pyeritz R, Korf B, editors. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. 7th ed. Academic Press; 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