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Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey [Anatol J Cardiol]
Anatol J Cardiol. 2020; 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 Barman1, Sevgi Özcan1, Adem Atıcı2, Caner Özgökçe1, Ahmet Öztürk1, Ayşegül Ezgi Kafalı3, Nafiye Emel Çakar4, Mustafa Emir Tavşanlı5, Mehmet Küçük3, Irfan Şahin6, Ertuğrul Okuyan1
1Department of Cardiology, Okmeydanı Training and Research Hospital; İstanbul-Turkey
2Department of Internal Diseases, Okmeydanı Training and Research Hospital; İstanbul-Turkey
3Department of Child Health and Diseases Metabolism Unit, Okmeydanı Training and Research Hospital; İstanbul-Turkey
4Department of Neurology, Okmeydanı Training and Research Hospital; İstanbul-Turkey
5Department of Cardiology, İstanbul Gaziosmanpaşa Taksim Training and Research Hospital; İstanbul-Turkey
6Department of Cardiology, Bağcılar Training and Research Hospital; İstanbul-Turkey

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±15 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.

Keywords: hypertrophic cardiomyopathy, echocardiography, Fabry disease


Hasan Ali Barman, Sevgi Özcan, Adem Atıcı, Caner Özgökçe, Ahmet Öztürk, Ayşegül Ezgi Kafalı, Nafiye Emel Çakar, Mustafa Emir Tavşanlı, Mehmet Küçük, Irfan Şahin, Ertuğrul Okuyan. Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey. Anatol J Cardiol. 2020; 23(2): 79-85

Corresponding Author: Hasan Ali Barman, Türkiye


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