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

doi:10.1023/B:BOLI.0000045711.89888.5e

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

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16 Scopus citations

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 language	English (US)
Pages (from-to)	735-739
Number of pages	5
Journal	Journal of Inherited Metabolic Disease
Volume	27
Issue number	6
DOIs	https://doi.org/10.1023/B:BOLI.0000045711.89888.5e
State	Published - 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

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title = "Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency",

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.",

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

note = "Funding Information: This work was supported by National Institutes of Health grants PO1HD32062 and NS11766, and by a grant from the Muscular Dystrophy Association.",

year = "2004",

doi = "10.1023/B:BOLI.0000045711.89888.5e",

language = "English (US)",

volume = "27",

pages = "735--739",

journal = "Journal of Inherited Metabolic Disease",

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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

TY - JOUR

T1 - Congenital cardiomyopathy and pulmonary hypertension

T2 - Another fatal variant of cytochrome-c oxidase deficiency

AU - Venditti, C. P.

AU - Harris, M. C.

AU - Huff, D.

AU - Peterside, I.

AU - Munson, D.

AU - Weber, H. S.

AU - Rome, J.

AU - Kaye, E. M.

AU - Shanske, S.

AU - Sacconi, S.

AU - Tay, S.

AU - DiMauro, S.

AU - Berry, Gerard T.

N1 - Funding Information: This work was supported by National Institutes of Health grants PO1HD32062 and NS11766, and by a grant from the Muscular Dystrophy Association.

PY - 2004

Y1 - 2004

N2 - 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.

AB - 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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U2 - 10.1023/B:BOLI.0000045711.89888.5e

DO - 10.1023/B:BOLI.0000045711.89888.5e

M3 - Article

C2 - 15505378

AN - SCOPUS:7244245553

SN - 0141-8955

VL - 27

SP - 735

EP - 739

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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