Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Biventricular hypertrophy was noted at 24 weeks' gestation in a fetus with isolated cytochrome-c oxidase (COX) deficiency. Shock, caused by hypertrophic cardiomyopathy and severe pulmonary hypertension, led to the patient's death on day 6. His phenotype defines a new lethal variant of COX deficiency characterized by prenatal-onset cardiopulmonary pathophysiology.
Venditti
C P
CP
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Harris
M C
MC
Huff
D
D
Peterside
I
I
Munson
D
D
Weber
H S
HS
Rome
J
J
Kaye
E M
EM
Shanske
S
S
Sacconi
S
S
Tay
S
S
DiMauro
S
S
Berry
G T
GT
D000138:Acidosis / Q000235:genetics; D000328:Adult; D006332:Cardiomegaly / Q000151:congenital / Q000235:genetics; D009202:Cardiomyopathies / Q000151:congenital* / Q000235:genetics*; D002950:Citrate (si)-Synthase / Q000172:deficiency / Q000235:genetics; D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics*; D004452:Echocardiography; D004579:Electron Transport / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000151:congenital* / Q000235:genetics*; D007231:Infant, Newborn; D007773:Lactates / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D007773:Lactates; D002950:Citrate (si)-Synthase