Original articleCardiac Manifestations in Oxidative Phosphorylation Disorders of Childhood
Section snippets
Methods
We conducted a retrospective review of clinical and laboratory records of all patients with definitive OXPHOS disorders diagnosed between 1984 and 2005 in the Mitochondrial Research Laboratory at the Murdoch Children Research Institute and treated at the Royal Children’s Hospital, Melbourne. The material used included biopsies taken for the investigation of a possible metabolic disease, explanted hearts at transplantation, and material collected at autopsy. The diagnosis of an OXPHOS disorder
Results
The clinical, enzymatic, and molecular findings of the whole cohort of patients are detailed in Table I. There were 89 patients, including 54 males and 35 females (male:female ratio 1.5:1). The median age at presentation of the 89 patients was 6 months (range: intrauterine to 15 years). The majority of patients had Leigh- or Leigh-like disease (27/89) and mitochondrial cytopathy (25/89), defined as a multisystemic disorder (affecting the muscular system2, central nervous system2, visual and
Discussion
Cardiac involvement in patients with OXPHOS defects has been reported in several series, with varying prevalence, type, and severity. There is some difficulty in comparing the results of the cited studies2, 3, 7, 8, 11, 12 because of the different diagnostic criteria used and possible ascertainment biases as a result of different inclusion criteria. Hence, the true prevalence of cardiac involvement in OXPHOS disorders is unclear. We believe that our systematic review of the clinical, enzymatic,
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Supported by grants and a Senior Research Fellowship (DRT) from the National Health and Medical Research Council (NHMRC) of Australia.