ISSN : 2146-3123
E-ISSN : 2146-3131

The Prevalence of Fabry Disease Among Turkish Patients with Non-obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study
Hasan Ali Barman1, Baris Ikitimur2, Burcak Kilickiran Avci2, Eser Durmaz2, Adem Atici3, Serkan Aslan4, Serdar Ceylaner5, Hakan Karpuz2
1Cardiology Department, Okmeydani Training ve Research Hospital, Darulaceze street No:25, 34384, Okmeydani, Istanbul, Turkey
2Cardiology Department, Istanbul University Cerrahpasa School of Medicine, Cerrahpasa street No:53, 34096 Fatih, Istanbul, Turkey
3Cardiology Department, Istanbul Gaziosmanpasa Taksim Training and Research Hospital, Osmanbey street, Gaziosmanpasa, Istanbul, Turkey
4Department of Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training Research Hospital, Istanbul, Turkey
5Intergen genetic center, Ankara, Turkey
DOI : 10.4274/balkanmedj.galenos.2019.2019.5.125


Background: Fabry disease(FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme(AGE). Cardiac involvement is present in more than 60% of adult Fabry cases, with hypertrophic cardiomyopathy(HCM) without left ventricular outflow tract(LVOT)  obstruction being the most common phenotype. The aim of the study was to screen adult patients with HCM without LVOT.
Methods: A total of 80 patients between age of  18-65 years,  referred to a tertiary center for trans-thoracic echocardiography for various clinical indications were investigated for the presence of idiopathic left ventricular hypertrophy(LVH) without resting or dynamic LVOT obstruction. Plasma AGE  activity and alpha-galactosidase GLA gene mutations were investigated.
Results: The mean age was 41.5±12.7 years and 66.25% of the patients were males. The mean echocardiographic parameters were as follows:  left ventricular(LV) ejection fraction  60.7 ± 7.4%, interventricular septum thickness 18.2 ± 4.4 mm, LV posterior wall  13.5 ± 2.1 mm, LV end-diastolic diameter  47.4 ± 6.2 mm, LV end-systolic diameter 27.8 ± 6.5 mm, LV mass index 171.05 ± 48.5 g/m². Hemizygous mutations associated with FD were detected in two male patients ( 2.50 % of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln).
Conclusion: In a highly selected population of patients with unexplained LVH on echocardiography, FD has an unexpectedly high prevalence. FD should be included in the differential diagnosis of idiopathic LVH without LVOT obstruction. The cardiologist may have an essential role in the screening and diagnosis of Fabry disease because of the high frequency of cardiac involvement and LVH.

Keywords : hypertrophic cardiomyopathy, echocardiography, Fabry disease.
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