TITLE:
Successful Treatment of Cardiac Failure Due to Cardiomyopathy in Propionic Acidemia by Cardiac Resynchronization Therapy and Hemodialysis in a Young Adult
AUTHORS:
Masato Kimura, Yuji Wakayama, Osamu Sakamoto, Kengo Kawano, Toshihiro Ohura, Shigeo Kure
KEYWORDS:
Propionic Acidemia; Cardiomyopathy; Cardiac Resynchronization Therapy; Hemodialysis
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.4 No.1,
March
14,
2014
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.