Key result
Targeted metabolic therapy plus GDMT improves cardiac function in propionic acidemia-related dilated cardiomyopathy.
Why the study?
Adult onset propionic acidemia presenting as dilated cardiomyopathy is exceedingly rare and often misdiagnosed, leading to challenges in management.
Case Report (n=1)
Adult onset propionic acidemia can present as metabolic cardiomyopathy and cardiogenic shock, but cardiac function can improve with targeted metabolic therapy, highlighting the need for metabolic and genetic screening in young patients with seemingly idiopathic dilated cardiomyopathy.
Answers are grounded in this paper and cite their sources.
May warrant metabolic screening in young adults with dilated cardiomyopathy; extends case-level evidence for targeted therapy but remains hypothesis-generating.
BACKGROUND: Adult onset propionic acidemia (PA) is exceedingly rare, particularly when manifesting as dilated cardiomyopathy. CASE SUMMARY: A previously healthy 24-year-old man presented with cardiac dilatation and acute progressive heart failure. His condition was refractory to guideline-directed medical therapy, deteriorating to cardiogenic shock within 6 weeks. Plasma acylcarnitine profile revealed elevated propionylcarnitine and an increased propionylcarnitine-to-acetylcarnitine ratio. Urinary organic acid analysis showed elevated methylcitric acid. Whole-exome sequencing identified a homozygous mutation in the PCCA gene. A diagnosis of PA presenting as metabolic cardiomyopathy was established. Cardiac function and hemodynamics improved with targeted metabolic treatment combined with guideline-directed medical therapy. DISCUSSION: Adult onset, metabolic cardiomyopathy because of PA is prone to being overlooked or misdiagnosed as refractory idiopathic dilated cardiomyopathy, potentially leading to premature escalation to advanced heart failure therapies. Early etiologic recognition and targeted metabolic treatment are crucial in the management of such cases. TAKE-HOME MESSAGES: Metabolic and genetic screening is recommended for patients with idiopathic dilated cardiomyopathy, particularly in younger individuals. Early diagnosis and targeted intervention may preclude or delay the progression to left ventricular assist device implantation or heart transplantation in patients with dilated cardiomyopathy secondary to PA.
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Fang et al. (2026) conducted a case report in Dilated cardiomyopathy secondary to propionic acidemia (n=1). Targeted metabolic treatment and guideline-directed medical therapy was evaluated on Cardiac function and hemodynamics. Targeted metabolic treatment combined with guideline-directed medical therapy improved cardiac function and hemodynamics in a 24-year-old man with dilated cardiomyopathy secondary to propionic acidemia.
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