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Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome‐ c oxidase deficiency
Author(s) -
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.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000045711.89888.5e
Subject(s) - medicine , pulmonary hypertension , hypertrophic cardiomyopathy , cytochrome c oxidase , fetus , pathophysiology , cardiomyopathy , cardiology , endocrinology , heart failure , pregnancy , mitochondrion , biology , genetics
Summary: 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.