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. 2017 Mar 13;4(1):e000567.
doi: 10.1136/openhrt-2016-000567. eCollection 2017.

Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study

Anne-Louise Savary  1 , Remy Morello  2 , Carole Brasse-Lagnel  3 , Paul Milliez  1 , Soumeya Bekri  3 , Fabien Labombarda  1
Affiliations

Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study

Anne-Louise Savary et al. Open Heart. .

Abstract

Background: Cardiac complications in Fabry disease are frequent and dominated by a high frequency of left ventricular hypertrophy; therefore, cardiologists may have an essential role in screening for this disease. Providing cardiologists with targeted information on Fabry disease would be valuable and could reduce both diagnostic and therapeutic delays. The aim of this study was to evaluate the efficiency of such strategy for Fabry screening.

Methods: We conducted a before-after control-impact study by comparing observations made before and after targeted information on Fabry disease among cardiologists. The information on Fabry disease consisted of (1) an educational booklet, (2) oral information and (3) screening kits. The programme was evaluated at the end of a 12-month study period.

Results: Forty-two cardiologists participated to this study. None of them had conducted screening test and new diagnostic for Fabry disease in the 3 years prior the information. After the information, screening with dried blood spots was performed in 55 patients (ranged 18-77 years, men: 39) with cardiac monitoring for supposed sarcomeric hypertrophic cardiomyopathy (n=41) or unexplained left ventricular hypertrophy (n=14) from January 2015 to January 2016. Two new cases of Fabry disease were diagnosed (3.4%) in two men (ages 58 and 51 years). The information was deemed relevant in both content and structure and was deemed useful for everyday practice.

Conclusion: Cardiologists valued the targeted information on Fabry disease. This information had a direct clinical impact by allowing the diagnosis of two new families with Fabry disease.

Keywords: Fabry disease; Hypertrophic cardiomyopathy; hereditary cardiomyopathy; left ventricular hypertrophy.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Hypertrophic cardiomyopathy (transthoracic echocardiogram). (A) Asymmetric diffuse LVH; (B) moderate and asymmetric LVH with systolic anterior motion of the mitral valve. LVH, left ventricular hypertrophy.
Figure 2
Figure 2
Prevalence of Fabry disease in hypertrophic cardiomyopathy populations. Dotted line represents the frequency of Fabry disease in our population.
See this image and copyright information in PMC

References

    1. Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008;372:1427–35. 10.1016/S0140-6736(08)61589-5 - DOI - PubMed
    1. Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in fabry disease. J Inherit Metab Dis 2001;24:75–83. - PubMed
    1. Yousef Z, Elliott PM, Cecchi F, et al. Left ventricular hypertrophy in fabry disease: a practical approach to diagnosis. Eur Heart J 2013;34:802–8. 10.1093/eurheartj/ehs166 - DOI - PMC - PubMed
    1. Weidemann F, Linhart A, Monserrat L, et al. Cardiac challenges in patients with fabry disease. Int J Cardiol 2010;141:3–10. 10.1016/j.ijcard.2009.08.002 - DOI - PubMed
    1. Thomas AS, Mehta AB. Difficulties and barriers in diagnosing fabry disease: what can be learnt from the literature? Expert Opin Med Diagn 2013;7:589–99. 10.1517/17530059.2013.846322 - DOI - PubMed

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