Cardiac manifestations in oxidative phosphorylation disorders of childhood.
OBJECTIVE
To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosphorylation (OXPHOS) disorders.


METHODS
Retrospective review of clinical and laboratory records of all patients with definitive OXPHOS disorders diagnosed and treated at the Royal Children's Hospital in Melbourne between 1984 and 2005.


RESULTS
Of a total of 89 patients (male:female ratio 1.5:1) 29 (33%) had cardiac involvement: 9 as presenting symptoms, 9 developing on follow-up, and 11 with subclinical cardiac findings. Leigh or Leigh-like syndrome and complex I and combined complex I, III, and IV deficiencies were the most common clinical and laboratory diagnoses, respectively. Clinically symptomatic patients had hypertrophic cardiomyopathy (5 patients), dilated cardiomyopathy (4 patients), combined ventricular hypertrophy and systolic dysfunction (3 patients), and left ventricular noncompaction (3 patients) at first assessment. A change in the type of cardiomyopathy was noted on follow-up in 2 patients. Conduction and rhythm abnormalities were present in 7 symptomatic patients.


CONCLUSIONS
Cardiac assessment in children with OXPHOS disorders may reveal subclinical abnormalities of cardiac function. Patients who present with primary cardiac features have a poor prognosis. OXPHOS disorders should be considered in the differential diagnosis of children presenting with otherwise unexplained cardiomyopathy.
Yaplito-Lee
J
J
Metabolic Service, Genetic Health Services Victoria, Royal Children's Hospital Melbourne, Australia.
Weintraub
R
R
Jamsen
K
K
Chow
C W
CW
Thorburn
D R
DR
Boneh
A
A
D000293:Adolescent; D017668:Age of Onset; D015984:Causality; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D015897:Comorbidity; D005260:Female; D005500:Follow-Up Studies; D006331:Heart Diseases / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D028361:Mitochondrial Diseases / Q000145:classification / Q000453:epidemiology*; D015995:Prevalence; D012189:Retrospective Studies; D017678:Sex Distribution; D016019:Survival Analysis; D014739:Victoria / Q000453:epidemiology