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Master Thesis

The value of electrocardiogram and echocardiography to distinguish Fabry disease from sarcomeric hypertrophic cardiomyopathy

Abstract : Background: Screening for Fabry disease (FD) remains suboptimal in non-specialized centers. Aims: We aimed to evaluate the diagnostic value of electrocardiographic (ECG) scores of leg ventricular hypertrophy (LVH) and the diagnostic value of a combined ECG and echocardiographic model for FD. Methods: We retrospectively reviewed the ECG and echocardiogram of 61 patients (age: 55.6 ± 11.5 years, 57% men) with FD and LVH, and compared them to 59 patients (age: 44.8 ± 18.3 years, 66% men) with sarcomeric hypertrophic cardiomyopathy (HCM). Six ECG criteria for LVH were specifically analyzed: 1) Sokolow-Lyon index, 2) Cornell voltage index, 3) Gubner index, 4) Romhilt-Estes score, 5) Sokolow-Lyon voltage x QRS duration product and 6) Cornell voltage x QRS duration product. Results: Right Bundle Branch Block (RBBB) was more frequent in FD (54% vs. 22 %, p = 0.001). QRS duration, Gubner score, and Sokolov-Lyon product were significantly higher in FD. Maximal thickness wall (MTW) was higher in sarcomeric HCM group (21.9 ± 5.1 mm vs 15.5 ± 2.9 mm in Fabry, p < 0.001). Indexed Valsalva sinus diameter was higher in patients with FD. Ager multivariable analysis RBBB, Sokolov-Lyon product, MTW and aortic diameter were independently associated with FD. A model including these 4 parameters yielded an area under the ROC curve of 0.918 [95% Confident Interval: 0.868– 0.968] for FD. Conclusion: Our model combining easy-to-assess ECG and echocardiographic parameters may be helpful to improve screening and reduce diagnosis delay of FD.
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Submitted on : Wednesday, March 3, 2021 - 3:35:06 PM
Last modification on : Tuesday, October 19, 2021 - 11:34:51 PM

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  • HAL Id : dumas-03157969, version 1

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Nicolas Junqua. The value of electrocardiogram and echocardiography to distinguish Fabry disease from sarcomeric hypertrophic cardiomyopathy. Human health and pathology. 2020. ⟨dumas-03157969⟩

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