Prevalence of Fabry Disease Among Turkish Patients with Non-obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study

  Cardiology

  hasan ali barman

Now published in Balkan Medical Journal doi: 10.4274/balkanmedj.galenos.2019.2019.5.125

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Abstract

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. Aims: The aim of the study was to screen adult patients with HCM without LVOT. Study Design: Prospective screening study 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. Mutations associated with FD were detected in three male patients ( 3.75 % of the screened population): p.R112C(c.334C>T), p.D313Y(c.937G>T), p.R301Q(c.902>A). 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.

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