A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency

Alexander A C Leung,Justin A Ezekowitz,Alexander K C Leung,Alicia K Chan

doi:10.1155/2009/183125

Alexander A C Leung, Justin A Ezekowitz + Show 2 more

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https://doi.org/10.1155/2009/183125

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Abstract

3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy. In 1994, a case of dilated cardiomyopathy and fatal arrhythmia was reported in a 7-month-old infant. We report a case of dilated cardiomyopathy in association with HMG CoA lyase deficiency in a 23-year-old man with the acute presentation of heart failure. To our knowledge, this is the first case reported in an adult.

Highlights

Described in 1976, 3-hydroxy-3-methylglutaryl-coenzyme A (HMG 3-hydroxy-3-methylglutaryl-coenzyme A CMR (CoA)) lyase deficiency is a rare autosomal recessively inherited inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in attacks of metabolic acidosis, hypoglycemia, and a characteristic pattern of elevated urinary organic acids: 3-hydroxy-3-methylglutaric, 3-methylgutaconic, 3methylglutaric, and 3-hydroxyisovaleric acids
It has been previously reported that a 7-month old boy with hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency manifested a fatal arrhythmia associated with a dilated cardiomyopathy [2]
Myocarditis was excluded using CMR [3, 4]. We postulate that his cardiomyopathy resulted from impaired ketogenesis, intracellular fatty acid accumulation, and secondary carnitine deficiency