Key result
Medical therapy improves LVEF to 42% in a teen with dilated cardiomyopathy and L2HGA.
Why the study?
The clinical presentation and anatomical progression of L-2 hydroxyglutaric aciduria are highly variable, complicating treatment decisions and necessitating personalized approaches and risk scoring.
Case Report (n=1)
No
Answers are grounded in this paper and cite their sources.
This case highlights a potential novel association between L-2 hydroxyglutaric aciduria and dilated cardiomyopathy with severe right atrial dilatation.
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Işıkay et al. (2013) conducted a case report in Dilated cardiomyopathy and L-2 hydroxyglutaric aciduria (n=1). Heart failure therapy, L-carnitine, and riboflavin was evaluated on Clinical status and ejection fraction. A 16-year-old male with dilated cardiomyopathy and L-2 hydroxyglutaric aciduria showed significant clinical improvement and an increase in ejection fraction from 31% to 42% after three weeks of medical therapy.
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