Aars2 Related Infant Onset Cardiomyopathy Cn381454
A genetic mitochondrial disorder affecting heart muscle development in infants. Requires specialized cardiac care and monitoring. Outlook depends on early diagnosis and intervention.
Key facts at a glance
- ICD-10
- I78.0
- ICD-11
- BA00.0
- Body system
- cardiovascular
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Severe Heart Failure
The infant develops life-threatening heart failure where the heart cannot pump blood effectively to meet the body's needs.
Seek emergency care immediately if the infant shows rapid breathing, bluish skin color, or inability to feed.
Lactic Acidosis
Buildup of lactic acid in the blood due to mitochondrial dysfunction, causing fatigue, rapid breathing, and weakness.
Seek immediate medical care if the infant shows extreme lethargy, rapid breathing, or signs of metabolic crisis.
Respiratory Distress
Difficulty breathing or rapid breathing due to heart failure and muscle weakness affecting the respiratory system.
Seek emergency care immediately if the infant has trouble breathing, breathing rapidly, or lips/face turn blue.
Dilated Cardiomyopathy
(cardiovascular)The heart chambers become enlarged and weakened, reducing the heart's ability to pump blood efficiently.
Frequency: 85-90% of patients
Failure to Thrive
(constitutional)The infant fails to gain weight and grow at the expected rate despite adequate feeding efforts.
Frequency: 80-85% of patients
Muscle Hypotonia
(neurologic)Reduced muscle tone causing the infant to appear floppy with poor head control and weak movements.
Frequency: 50-60% of patients
Developmental Delay
(neurologic)Delays in reaching normal developmental milestones such as head control, rolling over, and reaching for objects.
Frequency: 45-55% of patients
Feeding Difficulties
(gastrointestinal)The infant has trouble feeding, including weak sucking, fatigue during feeding, or poor appetite.
Frequency: 40-50% of patients
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
Disease management and monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Heart Failure Medical Management
Standard heart failure medications including ACE inhibitors, beta-blockers, and diuretics manage symptoms and slow disease progression. Careful titration based on weight and tolerance is essential in infants.
Heart Transplantation Evaluation
Children with end-stage cardiomyopathy are evaluated for cardiac transplantation as a definitive treatment option. AARS2-related cardiomyopathy may recur post-transplant.
Additional treatment options
Cardiac Function Surveillance
Regular echocardiograms, ECG monitoring, and clinical assessments track disease progression and guide treatment adjustments. Brain natriuretic peptide levels help assess heart failure severity.
monitoringActivity Restrictions
Age-appropriate physical activity limitations prevent excessive cardiac stress while allowing normal development. Swimming and contact sports are typically restricted.
lifestyleMitochondrial Supportive Care
Coenzyme Q10 and L-carnitine supplementation may support mitochondrial function though evidence for AARS2-specific benefit is limited. Multidisciplinary care addresses extra-cardiac manifestations.
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 Aars2 Related Infant Onset Cardiomyopathy Cn381454?
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.
Diodato D, Ghezzi D, Tiranti V. The mitochondrial aminoacyl-tRNA synthetases: genes and syndromes. Int J Cell Biol. 2014;2014:787956.
Götz A, Tyynismaa H, Euro L, et al. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet. 2011;88(5):635-642.
Sommerville EW, Alston CL, Pyle A, et al. Diagnosing mitochondrial disease in the next generation sequencing era: a two-tier approach. Int J Biochem Cell Biol. 2014;49:92-97.
Taylor RW, Pyle A, Griffin H, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;312(1):68-77.
Perli E, Giordano C, Pisano A, et al. The genomic landscape of mitochondrial mutations in infantile cardiomyopathy: from whole exome to targeted sequencing. Front Cardiovasc Med. 2021;8:706900.
McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol. 2010;9(8):829-840.
Lake NJ, Bird MJ, Isohanni P, Paetau A. Mitochondrial cardiomyopathy: an overview. Heart Fail Rev. 2015;20(2):193-201.
Morava E, van den Heuvel L, Hol F, et al. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006;67(10):1823-1826.
Koopman WJ, Willems PH, Smeitink JA. Monogenic mitochondrial disorders. N Engl J Med. 2012;366(12):1132-1141.
Finsterer J, Kharatkar S. Cardiac involvement in primary mitochondrial myopathies. Indian Heart J. 2016;68(5):716-719.
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 25, 2026. · Read our editorial policy