ZEMANEK, David, Jaroslav JANUSKA, Tomáš HONEK, Karol CURILA, Milos KUBANEK, Stepanka SINDELAROVA, Lucie ZAHALKOVA, Petr KLOFAC, Eliska LASTUVKOVA, Eva LICHNEROVA, Renata AIGLOVA, Jan LHOTSKY, Jiri VONDRAK, Gabriela DOSTALOVA, Milos TABORSKY, David KASPER and Ales LINHART. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. ESC Heart Failure. San Francisco: Wiley Periodicals, 2022, vol. 9, No 6, p. 4160-4166. ISSN 2055-5822. Available from: https://dx.doi.org/10.1002/ehf2.14135. |
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@article{2249636, author = {Zemanek, David and Januska, Jaroslav and Honek, Tomáš and Curila, Karol and Kubanek, Milos and Sindelarova, Stepanka and Zahalkova, Lucie and Klofac, Petr and Lastuvkova, Eliska and Lichnerova, Eva and Aiglova, Renata and Lhotsky, Jan and Vondrak, Jiri and Dostalova, Gabriela and Taborsky, Milos and Kasper, David and Linhart, Ales}, article_location = {San Francisco}, article_number = {6}, doi = {http://dx.doi.org/10.1002/ehf2.14135}, keywords = {Fabry disease; Hypertrophic cardiomyopathy; Screening; Alpha-galactosidase; Lyso-Gb(3); Genetic testing}, language = {eng}, issn = {2055-5822}, journal = {ESC Heart Failure}, title = {Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic}, url = {https://onlinelibrary.wiley.com/doi/10.1002/ehf2.14135}, volume = {9}, year = {2022} }
TY - JOUR ID - 2249636 AU - Zemanek, David - Januska, Jaroslav - Honek, Tomáš - Curila, Karol - Kubanek, Milos - Sindelarova, Stepanka - Zahalkova, Lucie - Klofac, Petr - Lastuvkova, Eliska - Lichnerova, Eva - Aiglova, Renata - Lhotsky, Jan - Vondrak, Jiri - Dostalova, Gabriela - Taborsky, Milos - Kasper, David - Linhart, Ales PY - 2022 TI - Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic JF - ESC Heart Failure VL - 9 IS - 6 SP - 4160-4166 EP - 4160-4166 PB - Wiley Periodicals SN - 20555822 KW - Fabry disease KW - Hypertrophic cardiomyopathy KW - Screening KW - Alpha-galactosidase KW - Lyso-Gb(3) KW - Genetic testing UR - https://onlinelibrary.wiley.com/doi/10.1002/ehf2.14135 N2 - Aims Fabry disease (FD) is a rare X-linked genetic disorder caused by a-galactosidase A (AGALA) deficiency. Whereas 'classic' variant has multisystemic manifestation, the more recently described 'later-onset' variant is characterized by predominant cardiac involvement that often mimics hypertrophic cardiomyopathy (HCM). Methods and results Consecutive unrelated patients with HCM were screened for FD in 16 (out of 17) cardiac centres in the Czech Republic covering specialized cardiology care from June 2017 to December 2018. AGALA activity and globotriaosylsphingosine (lyso-Gb(3)) levels were measured in all subjects using the dry blood spot method. FD was suspected in male patients with AGALA activity <1.2 mu mol/h/L and in females with either low AGALA activity or lyso-Gb(3) > 3.5 ng/mL. Positive screening results were confirmed by genetic testing. We evaluated 589 patients (390 males, 66%) with HCM (mean maximal myocardial thickness 19.1 +/- 4.3 mm). The average age was 58.4 +/- 14.7 years. In total, 17 patients (11 males, 6 females) had a positive screening result, and subsequently, six of them (four males and two females) had a genetically confirmed pathogenic GLA mutation (total prevalence of 1.02%). Five of these patients were carrying the p.N215S mutation known to cause a typical later-onset cardiac FD. Conclusions We confirmed the prevalence of FD repeatedly reported in previous screening programmes (approximately 1% irrespective of gender) in a non-selected HCM population in Central Europe. Our findings advocate a routine screening for FD in all adult patients with HCM phenotype including both genders. The dry blood spot method used led to identification of clearly pathogenic variants. ER -
ZEMANEK, David, Jaroslav JANUSKA, Tomáš HONEK, Karol CURILA, Milos KUBANEK, Stepanka SINDELAROVA, Lucie ZAHALKOVA, Petr KLOFAC, Eliska LASTUVKOVA, Eva LICHNEROVA, Renata AIGLOVA, Jan LHOTSKY, Jiri VONDRAK, Gabriela DOSTALOVA, Milos TABORSKY, David KASPER and Ales LINHART. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. \textit{ESC Heart Failure}. San Francisco: Wiley Periodicals, 2022, vol.~9, No~6, p.~4160-4166. ISSN~2055-5822. Available from: https://dx.doi.org/10.1002/ehf2.14135.
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