Oxford medical case reports · 2026
Successful heart transplantation in a patient with glycogen storage disease.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Yousefi-Koma Hannaneh, Sharif-Kashani Babak, Ahmadi Zargham-Hossein, Sadeghi Mohammadreza Taban, Jahangirifard Alireza, Saliminejad Leila, Shafaghi Shadi, Naghashzadeh Farah
Аннотация
BACKGROUND: Polyglucosan body myopathy is a type of glycogen storage disease characterized by abnormal glycogen structure formation. Progressive heart failure is the primary cause of mortality in affected patients.
CASE SUMMARY: Here, we present a rare case of an Azeri teenage boy with advanced, decompensated heart failure associated with a novel sporadic variant mutation in the RBCK1 gene, displaying a polyglucosan body myopathy phenotype. Following multidisciplinary consensus, the patient underwent successful heart transplantation, resulting in discharge two weeks post-transplantation and excellent health at a one-year follow-up.
DISCUSSION: Heart transplantation represents the ultimate treatment option for patients with advanced heart failure and increased mortality risk. It remains a viable and beneficial strategy, even for those with cardiomyopathy secondary to multi-organ diseases.
CASE SUMMARY: Here, we present a rare case of an Azeri teenage boy with advanced, decompensated heart failure associated with a novel sporadic variant mutation in the RBCK1 gene, displaying a polyglucosan body myopathy phenotype. Following multidisciplinary consensus, the patient underwent successful heart transplantation, resulting in discharge two weeks post-transplantation and excellent health at a one-year follow-up.
DISCUSSION: Heart transplantation represents the ultimate treatment option for patients with advanced heart failure and increased mortality risk. It remains a viable and beneficial strategy, even for those with cardiomyopathy secondary to multi-organ diseases.