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Table 1 Baseline and follow-up assessment of patients diagnosed with Primary Mitochondrial Disorders

From: Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

Family history • Pattern of transmission (autosomal, X-linked, matrilineal)
• Recurrence of distinctive features:
- Myopathy
- Mental retardation/epilepsy
- Precocious death/stillbirth
- Diabetes
- Hearing loss
- Cardiovascular diseases
- Short stature
- Ocular involvement.
Clinical examination • Auxological parameters (weight, length/stature, cranial circumference)
• Vital parameters (blood pressure, heart rate, respiratory rate, oxygen saturation)
• Assessment of neurological status and cognitive development
Specialist evaluations • Audiological screening
• Ophthalmologic screening in order to exclude:
- retinitis
- cataract
- optic nerve atrophy
- progressive loss of vision
Cardiologic evaluation • Clinical examination
• 12-lead ECG and transthoracic echocardiograph
Brain Magnetic Resonance • Common findings:
- Leigh syndrome
- Focal hypodense lesions
- Cortical and cerebellar atrophy
- White matter hyperintensity
- Basal ganglia involvement
- Agenesis/hypoplasia of the corpus callosum
Brain MR spectroscopy Abnormal accumulation of lactate in the parenchyma and cerebrospinal fluid
Laboratory investigation • Complete blood count
• Liver and renal functional tests
• Blood fasting glucose
• Blood gas analysis
• Plasma lactate levels
• Creatine phosphokinase (CPK)
• Plasma amino acids
• Urine amino and organic acids
• Redox status
• Acylcarnitine profiles