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

Research output: Contribution to journal › Article › peer-review

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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10.1023/B:BOLI.0000045711.89888.5e

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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

@article{04b4282d676f464397f8a432891cbd6f,

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",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "6",

}

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.

UR - https://www.scopus.com/pages/publications/7244245553

UR - https://www.scopus.com/pages/publications/7244245553#tab=citedBy

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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