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. 2020 Jan;23(2):79-85.
doi: 10.14744/AnatolJCardiol.2019.84782.

Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey

Hasan Ali Barman  1 , Sevgi Özcan  1 , Adem Atıcı  2 , Caner Özgökçe  1 , Ahmet Öztürk  1 , Ayşegül Ezgi Kafalı  3 , Nafiye Emel Çakar  4 , Mustafa Emir Tavşanlı  5 , Mehmet Küçük  3 , Irfan Şahin  6 , Ertuğrul Okuyan  1
Affiliations

Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey

Hasan Ali Barman et al. Anatol J Cardiol. 2020 Jan.

Abstract

Objective: Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism which arises due to deficient or absent activity of lysosomal α-galactosidase A (α-Gal A). This may be associated with increased left ventricular (LV) wall thickness and may mimic the morphological features of hypertrophic cardiomyopathy. The purpose of this study was to define the ratio of occurrence of FD to the manifestation of unexplained left ventricular hypertrophy (LVH).

Methods: We studied a prospectively assembled a consecutive cohort of 190 patients with unexplained LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness of 13 mm or greater. All patients were tested for mutations in the GLA gene.

Results: The majority of patients were male (n=119, 63%) and the mean patient age was 47.2±115 years. In 190 patients diagnosed with LVH, we identified 2 patients (1.05%) with documented GLA mutations [c.427G>A (p.A143T)(p.Ala143Thr)] and [c.937G>T (p.D313Y)(p.Asp313Tyr)]. After the family screening, 3 additional patients with FD were identified in 2 families, including 5 individuals who are now receiving enzyme replacement therapy.

Conclusion: We identified 2 index patients with FD and unexplained LVH. Cardiologists should, therefore, be aware of FD in cases of unexplained LVH. Family screening is crucial for the earlier identification of unaffected new patients who may benefit from enzyme replacement therapy.

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Conflict of interest statement

Conflict of interest: None declared.

Figures

Figure 1
Figure 1
The electrocardiogram demonstrated left ventricular hypertrophy (a). Transthoracic echocardiography showed concentric LVH (maximal wall thickness 20 mm) with normal systolic function and right ventricular wall thickening (b). Grade I diastolic dysfunction was noted (c) and global longitudinal strain was diffusely abnormal (d), with an overall value of -9.7%. Cardiac magnetic resonance imaging demonstrated thickening of the interventricular septum and posterior wall (e) and delayed gadolinium cardiac enhancement in a patchy distribution (arrow) (e, f)
Figure 2
Figure 2
On electrocardiography, this 58-year-old woman showed normal sinus rhythm (a). Transthoracic echocardiography demonstrated left ventricular hypertrophy with a maximum septal wall thickness of 13 mm (b). The patient had diastolic dysfunction (grade I) and showed low systolic tissue Doppler velocities in the basal segment of the septum (6.8 cm/s) (c). Global longitudinal strain (d) was reduced (-10.5%) with a preserved left ventricular ejection fraction (60%)
See this image and copyright information in PMC

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