Article
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Journal of inherited metabolic disease - 1 Jan 2004
Venditti C P, Harris M C, Huff D, Peterside I, Munson D, Weber H S, Rome J, Kaye E M, Shanske S, Sacconi S, Tay S, DiMauro S, Berry G T
Abstract excerpt
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.
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