Efficiency of metabolic screening in childhood cardiomyopathies.

@article{Bonnet1998EfficiencyOM,
  title={Efficiency of metabolic screening in childhood cardiomyopathies.},
  author={Damien Bonnet and Pascale de Lonlay and Isabelle Gautier and Pierre Rustin and Agn{\`e}s R{\"o}tig and Jean Kachaner and Philippe Acar and J{\'e}rome Lebidois and Arnold Munnich and Daniel Sidi},
  journal={European heart journal},
  year={1998},
  volume={19 5},
  pages={
          790-3
        }
}
AIM To estimate the efficiency of metabolic screening in children's cardiomyopathy. METHODS AND RESULTS Blood glucose, lactate, pyruvate and ketone body, and carnitine levels were measured in 58 children referred with a cardiomyopathy of unknown origin. Organic acids, amino acids, oxidation of [1-14C] fatty acids to CO2 and dehydrogenation of [9,10(-3)H] fatty acids by lymphocytes were measured. Mitochondrial respiratory chain complex activity was measured in skeletal muscle and in… 
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The clinical manifestations and interfamilial variability of patients diagnosed with a mitochondrial cardiomyopathy out of 59 patients with mitochondrial disorders who attended the mitochondrial disease clinic at Wolfson Medical Center from 1996 to 2001 are reviewed.
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The FAOD are a group of autosomal recessive disorders associated with significant morbidity and mortality, but early diagnosis on newborn screening (NBS) and early initiation of treatment are improving outcomes.
Electrocardiography as an early cardiac screening test in children with mitochondrial disease
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Retrospective study on nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations recommends active screening with ECG in patients with mitochondrial disease even in patients without obvious cardiac manifestation.
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Given the potential tissue-specific nature of mitochondrial disease, investigation of myocardial tissue should be considered in all children with cardiomyopathy undergoing invasive cardiac procedures, and no pathogenic mtDNA mutations were identified in patients with histochemical abnormalities.
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
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Inborn errors of fatty acid oxidation should be considered in unexplained sudden death or near-miss in infants and in infants with conduction defects or ventricular tachycardia.
Lethal Cardiac Tachyarrhythmia in a Patient with Neonatal Carnitine–Acylcarnitine Translocase Deficiency
TLDR
It appears that the correction of the acute metabolic derangements in this condition may not prevent rapid progression to death, and it is speculated that the choice of anti-arrhythmic agent in this patient may paradoxically have contributed to his death.
Lethal Cardiac Tachyarrhythmia in a Patient with Neonatal Carnitine–Acylcarnitine Translocase Deficiency
TLDR
It appears that the correction of the acute metabolic derangements in this condition may not prevent rapid progression to death, and it is speculated that the choice of anti-arrhythmic agent in this patient may paradoxically have contributed to his death.
Carnitine Transporter Deficiency
TLDR
Primary carnitine deficiency must be considered in every child with emergency situation such as seizures, apnea, coma, cardiomyopathy, or episode of hypoketotic hypoglycemia, encephalopathy and Reye syndrome presentation.
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
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