The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey

Overview

Journal Anatol J Cardiol

Publisher Kare Publishing

Specialty Cardiology & Vascular Diseases

Date 2023 Mar 30

PMID 36995061

Authors

Ebru Ozpelit

Yuksel Cavusoglu

Hikmet Yorgun

Emir Ozgur Baris Okcun

Rabia Eker Akilli

Ahmet Celik

Necip Ermis

Demet Menekse Gerede Uludag

Gokhan Kahveci

Sefika Uslu Cil

Erkan Erfidan

Omac Tufekcioglu

Affiliations

Soon will be listed here.

Abstract

Background: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis.

Methods: This national, multicenter, cross-sectional, single-arm, observational registry study was conducted in adult patients with a clinical echocardiographic diagnosis of left ventricular hypertrophy and/or the presence of prominent papillary muscle. In both genders, genetic analysis was performed by DNA Sanger sequence analysis.

Results: A total of 406 patients with left ventricular hypertrophy of unknown origin were included. Of the patients, 19.5% had decreased enzyme activity (≤2.5 nmol/mL/h). Although genetic analysis revealed GLA (galactosidase alpha) gene mutation in only 2 patients (0.5%), these patients were considered to have probable but not 'definite Fabry disease' due to normal lyso Gb3 levels and gene mutations categorized as variants of unknown significance.

Conclusion: The prevalence of Fabry disease varies according to the characteristics of the population screened and the definition of the disease used in these trials. From cardiology perspective, left ventricular hypertrophy is the major reason to consider screening for Fabry disease. Enzyme testing, genetic analysis, substrate analysis, histopathological examination, and family screening should be performed, when necessary, for a definite diagnosis of Fabry disease. The results of this study underline the importance of the comprehensive use of these diagnostic tools to reach a definite diagnosis. The diagnosis and management of Fabry disease should not be based solely on the results of the screening tests.

Citing Articles

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PMID: 39411176 PMC: 11475249. DOI: 10.3389/fcvm.2024.1458705.

Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy.

Akhan O, Kis M, Guzel T, Zoghi M Arq Bras Cardiol. 2024; 121(1):e20230229.

PMID: 38324858 PMC: 11098584. DOI: 10.36660/abc.20230229.

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