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Transthoracic Speckle Tracking Echocardiography for the Quantitative Assessment of Left Ventricular Myocardial Deformation
Published on: October 20, 2016
Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography
Tomas F Cianciulli1,2, María C Saccheri1, Mario A Rísolo3
1Echocardiography Laboratory, Division of Cardiology, "Dr. Cosme Argerich" Hospital of the Government of the City of Buenos Aires, Buenos Aires, Argentina.
Insights
Mechanical dispersion (MD) was found in 76% of Fabry disease (FD) patients with left ventricular hypertrophy (LVH). This finding may aid in assessing FD patients with heart failure using strain echocardiography.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
- Cardiac dysfunction, particularly left ventricular (LV) issues, is a major cause of mortality in FD.
- Mechanical dispersion (MD) is linked to cardiac dysfunction but unstudied in FD.
Purpose of the Study:
- To determine the prevalence of mechanical dispersion (MD) in patients with Fabry disease (FD).
Main Methods:
- Echocardiographic and speckle tracking data were analyzed.
- MD was defined as the standard deviation of time-to-peak longitudinal strain in 17 LV segments (>49 ms).
- Patients were grouped by FD with and without LVH, compared to healthy controls.
Main Results:
- 89 FD patients (mean age 33.5 years) were analyzed.
- No significant difference in MD was found between FD patients without LVH and controls.
- MD was present in 76% of FD patients with LVH (mean 56 ms).
Conclusions:
- This is the first study to report MD prevalence in Fabry disease.
- MD is highly prevalent in FD patients with LVH.
- MD assessment via strain echocardiography may benefit heart failure management in FD.
Background:
Fabry disease (FD) is a rare X-linked storage disorder caused by deficiency of the lysosomal enzyme α-galactosidase A, and it typically causes multiorgan dysfunction. The main cause of death is heart disease resulting from left ventricular (LV) diastolic dysfunction, LV systolic dysfunction, severe LV hypertrophy (LVH), and sudden death. In several cardiac disorders, LV systolic dysfunction and ventricular arrhythmias are associated with mechanical dispersion (MD). MD has until now not been studied in patients with FD.
Objective:
To investigate the prevalence of MD in patients with FD.
Methods:
Complete echocardiographic data and speckle tracking echocardiographic data were collected. MD is an index of inter-segmental discoordination of contraction and is defined as the standard deviation (SD) of the time-to-peak longitudinal negative strain in 17 LV segments with a value >49 milliseconds. Patients with FD were divided into the following 2 groups: group I (patients with FD but no LVH, n = 64) and group II (patients with FD and LVH, n = 25). These groups were compared with a group of healthy subjects (group III, n = 50). Parametric variables were expressed as mean ± SD, and nonparametric variables were expressed as median and inter-quartile range. A P value <.05 was considered significant.
Results:
A total of 113 patients with FD were included in this study. Of these, 24 (21%) were excluded because of poor imaging quality or presence of comorbidities, and the final study population consisted of 89 patients (mean age of 33.5 ± 14.5 years, 64% female). Group II patients were older than group I patients (46 ± 13 years vs 27 ± 11 years, P < .0001). There was no difference in LV ejection fraction between the 3 groups. There was also no difference in MD between groups I and III (32.4 ms [26-39] vs 32 ms [26-39]). In group II, the MD in 19 patients (76%) was 56 ms (39-80).
Conclusions:
To the best of our knowledge, this is the first study to assess the prevalence of MD in patients with FD. MD was observed in 76% of patients with FD and LVH. The use of MD in strain echocardiography may be beneficial in the assessment of patients with FD who develop heart failure.
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