Echocardiographic features of Fabry cardiomyopathy—Comparison with hypertrophy‐matched sarcomeric hypertrophic cardiomyopathy

Militaru, Sebastian; Jurcuţ, Ruxandra; Adam, Robert; Roşca, Monica; Ginghină, Carmen; Popescu, Bogdan A

doi:10.1111/echo.14508

Cited by 11 publications

(8 citation statements)

References 29 publications

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“…A previous work by Militaru et al . 20 showed a larger impairment of RV-FWS in 20 FC patients vs. 20 HCM patients with similar age and degree of LVH. The present study extended these findings in a larger and more homogenous population (only patients with genetically-proven, non-obstructive HCM were selected) and using a different post-processing software for strain measurements.…”

Section: Discussionmentioning

confidence: 80%

Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Meucci

Lillo

Lombardo

et al. 2022

European Heart Journal - Cardiovascular Imaging

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Aims To perform a comparative analysis of right ventricle (RV) myocardial mechanics, assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry disease and patients with sarcomeric disease. Methods and results Patients with Fabry cardiomyopathy (FC) (n = 28) were compared with patients with sarcomeric hypertrophic cardiomyopathy (HCM), matched for degree of left ventricle hypertrophy (LVH) and demographic characteristics (n = 112). In addition, patients with Fabry disease and no LVH [phenotype-negative carriers of pathogenic α-galactosidase gene mutations (GLA LVH-)] (n = 28) were compared with age and sex-matched carriers of sarcomeric gene mutations without LVH [Phenotype-negative carriers of pathogenic sarcomeric gene mutations (Sarc LVH-)] (n = 56). Standard echocardiography and 2D-STE were performed in all participants. Despite a subtle impairment of RV global longitudinal strain (RV-GLS) was common in both groups, patients with FC showed a more prominent reduction of RV free wall longitudinal strain (RV-FWS) and lower values of difference between RV-FWS and RV-GLS (ΔRV strain), in comparison to individuals with HCM (P < 0.001 and P = 0.002, respectively). RV-FWS and ΔRV strain demonstrated an independent and additive value in discriminating FC from HCM, over the presence of symmetric LVH, systolic anterior motion of the mitral valve and RV hypertrophy. Similar results were found in GLA LVH- patients: they had worse RV-FWS and lower values of ΔRV strain as compared to Sarc LVH- patients (both P < 0.001). Conclusion Patients with FC show a specific pattern of RV myocardial mechanics, characterized by a larger impairment of RV-FWS and lower ΔRV strain in comparison to patients with HCM, which may be helpful in the differential diagnosis between these two diseases.

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Section: Discussionmentioning

confidence: 80%

Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Meucci

Lillo

Lombardo

et al. 2022

European Heart Journal - Cardiovascular Imaging

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“…General HCM patients had worse GLS compared with healthy individuals [ 14 ]. Recently, STE has been reported to be a non-Doppler-oriented and angle-independent technique that helped detect different causes of LVH [ 15 – 17 ]. However, few articles focused on the STE parameters in PRKAG2 syndrome because of the low prevalence.…”

Section: Discussionmentioning

confidence: 99%

Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy

Lü

Zhou

et al. 2022

Cardiovasc Ultrasound

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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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“…The viscoelastic load is length-independent and dominates the early diastolic restoring force [62] ; however, most compounds in recovering passive tension are involved in the contraction filament-events. Muscle tension continues to rise slowly in this secondary phase [70] . This slow increase the muscle tension, raising its Ca 2+ depending on the rapid lengthening of cardiac muscle (Figure 12).…”

Section: The Instantaneous Energy Consumption In the Muscle Fiber Tol...mentioning

confidence: 96%

Mechanical stress concealed force enhancement and ionic transient membrane potential and metabolism in akinesia of stress cardiomyopathy

Chen

Wang

Yang

et al. 2022

Preprint

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Stress cardiomyopathy is a unique heart syndrome that is characterized by reversible left ventricular apical wall motion abnormalities and is commonly known as Takotsubo syndrome. In transient left ventricular apical ballooning, myocardium lengthening stress is in a high energy-demand state. The increased passive tension and force enhancement conducted asynergically are associated with severe hypokinesis on the ventricular wall and reduced the blood ejection fraction. Ventricular myocardial deformation and global longitudinal strain have significant mechanotemporal alteration characteristics. Membrane potential dominant mechanisms related to akinesia are considered from multiple effects of variation of calcium transients, myocardium metabolism, which is relative to the ST segment lift in an ECG, and in the weakness of contraction of the ventricular muscle. Ventricular filling, not pressure,-determine the strengthening from stretching; thus, in stress cardiomyopathy, ventricular apical ballooning (takotsubo-shaped ventricle) strengthens the mechanical stress on the wall. Muscle fiber tolerance of lengthening is a high energy consumption process. Ventricular apical akinesia further aggravates passive tension. Depleted ATP and high inorganic phosphate inhibit Ca 2+-activated development, terminates the crossbridge detachment process in its early stage, and facilitates the occurrence of myogenic force enhancement. Comprehensive analysis of the above mechanisms, in lengthening stress, increased cardiac fibers energy demand, and Ca 2+ transient variation interruption of the diastolic cycle, delayed the onset of systole and aggravated the occurrence of apical ballooning in stress cardiomyopathy.

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Echocardiographic features of Fabry cardiomyopathy—Comparison with hypertrophy‐matched sarcomeric hypertrophic cardiomyopathy

Cited by 11 publications

References 29 publications

Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy

Mechanical stress concealed force enhancement and ionic transient membrane potential and metabolism in akinesia of stress cardiomyopathy

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