Abstract
Propionic acidemia is an autosomal recessive disorder that is due to deficiency in the enzyme propionyl-CoA carboxylase. Cardiomyopathy is a well-known phenomenon in propionic acidemia that it may rapidly progress to death. Here we describe a case of propionic acidemia in a 27-year-old man who developed adult-onset secondary dilated cardiomyopathy. In early infancy he was diagnosed with propionic acidemia and was later noted to have mild mental retardation, mild renal failure, and optic nerve atrophy. Although he was in good energy status with a low-protein diet and carnitine supplementation, he was admitted to our university hospital with decompensate heart failure, which resulted in low-output cardiac syndrome with massive mitral regurgitation and left ventricular dyssynchrony. Cardiac resynchronization therapy (CRT) and continuous hemodiafiltration followed by hemodialysis (HD) dramatically improved his clinical status.
Highlights
Propionic acidemia is a relatively rare autosomal recessive disorder characterized by an accumulation of propio-How to cite this paper: Kimura, M., et al (2014) Successful Treatment of Cardiac Failure Due to Cardiomyopathy in Propionic Acidemia by Cardiac Resynchronization Therapy and Hemodialysis in a Young Adult
A recent survey of propionic acidemia complications found that cardiomyopathy occurred in 10 of 54 (19%) patients with propionic acidemia, aged 2 - 33 years old [3]
Propionic acidemia was listed as the cause of death in 70% of the deceased patients, a finding indicative of significant morbidity and mortality in this population
Summary
How to cite this paper: Kimura, M., et al (2014) Successful Treatment of Cardiac Failure Due to Cardiomyopathy in Propionic Acidemia by Cardiac Resynchronization Therapy and Hemodialysis in a Young Adult. We describe the case of a young adult with propionic acidemia complicated by severe heart failure and renal dysfunction who was treated successfully by combination therapy CRT and HD. This combined approach may be a viable option for patients with metabolic disorders such as propionic acidemia complicated advanced secondary cardiomyopathy and renal failure
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