Name of disease:

ICD-10 diagnosis code:

Causes:

• The most frequently identified biochemical abnormalities are deficiencies in NADH-coenzyme Q (CoQ) reductase (complex I) and cytochrome-c oxidase (complex IV). These genes are responsible for encoding subunits of the electron transport chain complexes or encoding ancillary proteins needed for the assembly transport and function of the electron transport chain complexes or control activities of the mitochondria or encoding proteins that synthesize cardiolipin an integral part of the inner mitochondrial membrane.
• Because the heart is a muscle with high energy demands most patients with mitochondrial disease are susceptible to cardiac involvement.

Mode of inheritance:

Prevalence:

Diagnosis:

• Clinical recognition
• Biochemical screening
• Histopathological studies
• Functional assays
• Molecular genetic testing
• Systematic screening for all targeted organs e.g.:
  - Neuroimaging
  - Hearing assessment
  - Ophthalmologic examination
  - Liver function test
  - Serum creatinine phosphokinase
• Fresh skeletal muscle biopsy
• Cardiac muscle biopsy

Age of onset:

Common signs and symptoms:

• Hypertrophic and dilated cardiomyopathy
• Left ventricular myocardial noncompaction
• From no symptoms to devastating multisystem disease
• Heart failure
• Ventricular tachyarrhythmia
• Sudden cardiac death

Available treatment (medicinal and non-medicinal):

• Treatment remains largely symptomatic and does not significantly alter the course of the disease.
• The only mitochondrial cardiomyopathies with an effective and specific metabolic treatment are those caused by CoQ10 deficiency. The CoQ10 supplement for patients with CoQ10 deficiency results in restoring the electron flow and a dramatic improvement in clinical manifestations associated with CoQ10 deficiency.
• Heart transplantation might be successful when clinical expression is limited to the myocardium or manifestations outside the heart are mild and appear non-progressive.

Disease management tips:

• Exercise is one of the few proven methods for improving mitochondrial functioning and decreasing the burden of unhealthy mitochondria.
• Exercise regimens should be supervised by a therapist trainer or kinesiologist.

References:

• https://www.icd10data.com/ICD10CM/Codes/G00-G99/G70-G73/G71-/G71.3
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783139/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9655095/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561461/
• https://www.frontiersin.org/articles/10.3389/fcvm.2016.00025/full