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PRKAG2 Cardiomyopathy: A Case-Control Study on the Diagnostic Yield Of Histopathology and Ultrastructural Analysis

Kinulpe Honorato-Sampaio1, Carla de Oliveira2, Stanley de Almeida Araújo3

  • 1Faculdade de Medicina, Universidade Federal do Vale do Jequitinhonha e Mucuri, Diamantina, MG - Brasil.

Arquivos Brasileiros De Cardiologia
|March 18, 2026
PubMed

Insights

Histopathological examination of PRKAG2 cardiomyopathy reveals significant cardiomyocyte enlargement and abundant cytosolic glycogen accumulation, distinguishing it from other heart conditions. These findings aid in diagnosing PRKAG2 cardiomyopathy.

Area of Science:

  • Cardiovascular Pathology
  • Molecular Cardiology
  • Genetic Heart Diseases

Background:

  • Histopathological data on PRKAG2 cardiomyopathy are currently fragmented.
  • Understanding PRKAG2 cardiomyopathy's cardiac pathology is crucial for diagnosis and management.

Purpose of the Study:

  • To systematically evaluate cardiac pathological features in a large cohort of PRKAG2 cardiomyopathy patients.
  • To compare the diagnostic utility of histopathology with genetic sequencing for PRKAG2 cardiomyopathy.

Main Methods:

  • Observational, cross-sectional, case-control study.
  • Endomyocardial biopsies analyzed via H&E, PAS, Masson's trichrome staining, and transmission electron microscopy.
  • Comparison between 18 PRKAG2 cardiomyopathy patients and 11 heart transplant controls.

Main Results:

  • PRKAG2 cardiomyopathy hearts showed cardiomyocyte enlargement, vacuolization, minimal fibrosis, and no inflammation.
  • Transmission electron microscopy revealed extensive cytosolic glycogen accumulation, primarily perinuclear.
  • Glycogen accumulation was consistently present in PRKAG2 patients and absent in controls.

Conclusions:

  • Histological and ultrastructural analysis of endomyocardial biopsies reveals distinct features of PRKAG2 cardiomyopathy.
  • These findings aid in the pathological diagnosis of PRKAG2 cardiomyopathy.
  • Histopathology offers valuable diagnostic insights complementing genetic testing.
Abstract

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