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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy
Rebecca Mardach1, M Anthony Verity, Stephen D Cederbaum
1Regional Metabolic Center, Kaiser Permanente Medical Group, 4700 Sunset Boulevard, Los Angeles, CA 90027, USA. rebecca.r.mardach@kp.org
Abstract:
A patient diagnosed at 9 months with a milder form of propionic acidemia was functioning at a near normal intellectual level and a normal neurological level at age 8. After 2-week history of feeling "poorly" but functioning normally, she became acutely ill and succumbed to heart failure and ventricular fibrillation in 12 h. At post-mortem the heart was hypertrophied and had low carnitine levels, despite carnitine supplementation and repeatedly normal plasma carnitine levels. The findings in this patient provide a possible mechanism for the cardiac complications that are becoming more apparent in propionic acidemia.
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