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Transthoracic Speckle Tracking Echocardiography for the Quantitative Assessment of Left Ventricular Myocardial Deformation
Published on: October 20, 2016
Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking
Lu Tang1, Xuejie Li1, Nianwei Zhou1
1Department of Echocardiography, Zhongshan Hospital, Shanghai Institute of Cardiovascular Diseases, Shanghai Institute of Medical Imaging, Fudan University, Shanghai, China.
Insights
PRKAG2 syndrome, a rare heart condition, can be distinguished from hypertrophic cardiomyopathy (HCM) by identifying bradycardia (slow heart rate) and preserved global longitudinal strain (GLS). This aids in timely and appropriate treatment decisions.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- PRKAG2 syndrome, characterized by left ventricular hypertrophy (LVH), ventricular preexcitation, and sudden cardiac death, is often misdiagnosed as sarcomeric hypertrophic cardiomyopathy (HCM).
- This misdiagnosis can lead to delayed treatment for PRKAG2 patients, potentially causing adverse outcomes.
- Identifying differentiating factors is crucial for accurate diagnosis and timely management.
Purpose of the Study:
- To identify echocardiographic parameters that can differentiate PRKAG2 syndrome from sarcomeric HCM.
- To improve diagnostic accuracy and facilitate earlier treatment for PRKAG2 syndrome.
Main Methods:
- Echocardiographic parameters, including three-dimensional speckle tracking echocardiography (3D STE) derived left ventricular strains, were evaluated in 9 PRKAG2 patients, 41 HCM patients, and 202 healthy volunteers.
- Receiver operating characteristic (ROC) curve analysis was employed to assess the diagnostic potential of various clinical and echocardiographic parameters.
Main Results:
- PRKAG2 patients exhibited significantly lower heart rates (HR) compared to both healthy individuals and HCM patients.
- The PRKAG2 group showed significantly higher global longitudinal strain (GLS) absolute values than the HCM group.
- A combination of HR and GLS demonstrated high diagnostic potential (AUC=0.911) for differentiating PRKAG2 syndrome from sarcomeric HCM, with 100% specificity.
Conclusions:
- PRKAG2 syndrome is associated with deteriorated left ventricular diastolic function and preserved systolic function.
- Bradycardia and preserved GLS are key indicators for distinguishing PRKAG2 syndrome from sarcomeric HCM.
- These findings can guide clinical decision-making and improve patient outcomes.
Background:
PRKAG2 syndrome is a rare disease characterized as left ventricular hypertrophy (LVH), ventricular preexcitation syndrome, and sudden cardiac death. Its natural course, treatment, and prognosis were significantly different from sarcomeric hypertrophic cardiomyopathy (HCM). However, it is often clinically misdiagnosed as sarcomeric HCM. PRKAG2 patients tend to experience delayed treatment. The delay may lead to adverse outcomes. This study aimed to identify the echocardiographic parameters which can differentiate PRKAG2 syndrome from sarcomeric HCM.
Methods:
Nine PRKAG2 patients with LVH, 41 HCM patients with sarcomere gene mutations, and 202 healthy volunteers were enrolled. Clinical characteristics, conventional echocardiography, and three-dimensional images were recorded, and reviewed by an attending cardiologist. We evaluated the parameters of left ventricular strains from three-dimensional speckle tracking echocardiography (3D STE) by TomTec software. Receiver operating characteristic (ROC) curves analysis was used to assess clinical and echocardiographic parameters' differential diagnosis potential.
Results:
The heart rate (HR) of the PRKAG2 group was significantly lower than both the healthy group (53.11 ± 10.14 vs. 69.22 ± 10.48 bpm, P < 0.001) and the sarcomeric HCM group (53.11 ± 10.14 vs. 67.23 ± 10.32 bpm, P = 0.001). The PRKAG2 group had similar interventricular septal thickness (IVS), posterior wall thickness (PWT), and maximum wall thickness (MWT) to the HCM group (P > 0.05). The absolute value of GLS in the PRKAG2 group was significantly higher than HCM patients (-18.92 ± 4.98 vs. -13.43 ± 4.30%, P = 0.004). SV calculated from EDV and ESV in PRKAG2 syndrome showed a higher value than sarcomeric HCM (61.83 ± 13.52 vs. 44.96 ± 17.53%, P = 0.020). The area under the ROC curve (AUC) for HR + GLS was 0.911 (0.803 -1). For HR + GLS, the sensitivity and specificity of the best cut-off value (0.114) were 69.0% and 100%, respectively.
Conclusions:
PRKAG2 patients present deteriorated LV diastolic function and preserved LV systolic function. Bradycardia and preserved GLS are useful to identify PRKAG2 syndrome from sarcomeric HCM, which may be beneficial for clinical decision-making.
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