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

15 Citations (Scopus)

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

Fingerprint

Cytochrome-c Oxidase Deficiency
Hypertrophic Cardiomyopathy
Cardiomyopathies
Pulmonary Hypertension
Hypertrophy
Shock
Oxidoreductases
Fetus
Phenotype
Pregnancy

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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, Gerard T. / Congenital cardiomyopathy and pulmonary hypertension : Another fatal variant of cytochrome-c oxidase deficiency. In: Journal of Inherited Metabolic Disease. 2004 ; Vol. 27, No. 6. pp. 735-739.
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Venditti, CP, Harris, MC, Huff, D, Peterside, I, Munson, D, Weber, HS, Rome, J, Kaye, EM, Shanske, S, Sacconi, S, Tay, S, DiMauro, S & Berry, GT 2004, 'Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency', Journal of Inherited Metabolic Disease, vol. 27, no. 6, pp. 735-739. https://doi.org/10.1023/B:BOLI.0000045711.89888.5e

Congenital cardiomyopathy and pulmonary hypertension : Another fatal variant of cytochrome-c oxidase deficiency. / 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, Gerard T.

In: Journal of Inherited Metabolic Disease, Vol. 27, No. 6, 10.11.2004, p. 735-739.

Research output: Contribution to journalArticle

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AU - Weber, H. S.

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AU - Kaye, E. M.

AU - Shanske, S.

AU - Sacconi, S.

AU - Tay, S.

AU - DiMauro, S.

AU - Berry, Gerard T.

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