Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency

C. P. Venditti, M. C. Harris, D. Huff, I. Peterside, D. Munson, H. S. Weber, J. Rome, E. M. Kaye, S. Shanske, S. Sacconi, S. Tay, S. DiMauro, Gerard T. Berry

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)735-739
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number6
DOIs
StatePublished - Nov 10 2004

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    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. (2004). Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency. Journal of Inherited Metabolic Disease, 27(6), 735-739. https://doi.org/10.1023/B:BOLI.0000045711.89888.5e