Evidence map›Paper›PMID 41589097›Full record

ArticleOxford medical case reports2026

Successful heart transplantation in a patient with glycogen storage disease.

Hannaneh Yousefi-Koma, Babak Sharif-Kashani, Zargham-Hossein Ahmadi, Mohammadreza Taban Sadeghi, Alireza Jahangirifard, Leila Saliminejad, Shadi Shafaghi, Farah Naghashzadeh

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Oxford medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Hannaneh Yousefi-KomaLung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413, Iran.ORCID https://orcid.org/0000-0001-7498-301X
Babak Sharif-KashaniLung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413, Iran.
Zargham-Hossein AhmadiLung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413, Iran.
Mohammadreza Taban SadeghiCardiovascular Research Center, Tabriz University of Medical Sciences, Golgasht St., Tabriz 5165665931, Iran.
Alireza JahangirifardLung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413, Iran.
Leila SaliminejadLung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413, Iran.
Shadi ShafaghiLung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413, Iran.
Farah NaghashzadehLung Transplantation Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Masih Daneshvari Hospital, Postal box: 19575154, Daar-Abad, Niavaran, Tehran 1959644413, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

cardiomyopathyglycogen storage diseasesheart failureheart transplantationpolyglucosan body myopathyRBCK1

Identifiers

PMID41589097
PMCPMC12832016

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.