Key result
Right ventricular endomyocardial biopsy revealed pronounced glycogen accumulation and extensive myofiber vacuolization in all 18 PRKAG2 cardiomyopathy patients, which were absent in 11 controls.
Why the study?
Histopathological features of PRKAG2 cardiomyopathy have been reported only in a fragmentary manner, and systematic evaluation of its cardiac pathological features and diagnostic potential was needed.
Does histopathological and ultrastructural analysis of endomyocardial biopsy samples identify distinct features of PRKAG2 cardiomyopathy compared to controls?
Population
18 patients with PRKAG2 cardiomyopathy and 11 heart transplant recipients as controls
Comparison
PRKAG2 cardiomyopathy vs heart transplant recipient controls
Design
Observational, cross-sectional, case-control study
Authors
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Biopsy histology may raise PRKAG2 suspicion when genetics unavailable; leaves open diagnostic replacement of sequencing pending prospective validation.
Case-Control (n=29)
Does histopathological and ultrastructural analysis of endomyocardial biopsy samples identify distinct features of PRKAG2 cardiomyopathy compared to controls?
Histological and ultrastructural examination of right ventricular endomyocardial biopsy samples reveals distinct features, such as pronounced glycogen accumulation and extensive vacuolization, that strongly suggest PRKAG2 cardiomyopathy.
Honorato-Sampaio et al. (2026) conducted a case-control in PRKAG2 cardiomyopathy (n=29). PRKAG2 cardiomyopathy vs. Heart transplant recipients was evaluated on Cardiac pathological features (histological and ultrastructural). Right ventricular endomyocardial biopsy revealed pronounced glycogen accumulation and extensive myofiber vacuolization in all 18 PRKAG2 cardiomyopathy patients, which were absent in 11 controls.
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