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Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography

José Luiz Barros Pena1,2, Fabricio Junqueira de Melo1, Wander Costa Santos1

  • 1Faculdade de Ciências Médicas de Minas Gerais - Pós-Graduação, Belo Horizonte, MG - Brasil.

Arquivos Brasileiros De Cardiologia
|November 23, 2022
PubMed

Insights

PRKAG2 syndrome often affects the right ventricle (RV). Echocardiography, including 2D and 3D imaging, effectively detects RV abnormalities and systolic dysfunction in this rare inherited cardiomyopathy.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • PRKAG2 syndrome is a rare, early-onset, autosomal dominant inherited cardiac condition.
  • Right ventricle (RV) involvement is a key feature of this cardiomyopathy.
  • Understanding RV function is crucial for managing PRKAG2 syndrome.

Purpose of the Study:

  • To characterize right ventricle (RV) echocardiographic findings in PRKAG2 syndrome using 2D and 3D modalities.
  • To assess myocardial deformation indices and RV function.
  • To determine if echocardiography can identify specific RV changes indicative of the syndrome.

Main Methods:

  • Thirty patients with genetically confirmed PRKAG2 mutations underwent comprehensive echocardiography.
  • Two-dimensional (2D) and three-dimensional (3D) imaging focused on the RV.
  • Analysis included myocardial deformation indices such as RV longitudinal strain and 3D ejection fraction.

Main Results:

  • Significant RV abnormalities were detected in PRKAG2 syndrome patients.
  • Mean RV 3D ejection fraction was reduced (42.6%), with 56.7% below normal limits.
  • Positive correlations were observed between RV 3D ejection fraction and RV longitudinal strain, particularly in patients without pacemakers.

Conclusions:

  • Right ventricle (RV) involvement is common in PRKAG2 syndrome.
  • Echocardiography, especially with advanced techniques like 2D and 3D strain analysis, is valuable for detecting RV myocardial abnormalities.
  • These echocardiographic parameters serve as reliable indicators of RV systolic dysfunction in PRKAG2 syndrome.
Abstract

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