Nationwide screening of Fabry disease in patients with
hypertrophic cardiomyopathy in Czech Republic

J 2022

Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic

ZEMANEK, David, Jaroslav JANUSKA, Tomáš HONEK, Karol CURILA, Milos KUBANEK et. al.

Basic information

Original name

Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic

Authors

ZEMANEK, David (203 Czech Republic), Jaroslav JANUSKA (203 Czech Republic), Tomáš HONEK (203 Czech Republic, belonging to the institution), Karol CURILA (203 Czech Republic), Milos KUBANEK (203 Czech Republic), Stepanka SINDELAROVA (203 Czech Republic), Lucie ZAHALKOVA (203 Czech Republic), Petr KLOFAC (203 Czech Republic), Eliska LASTUVKOVA (203 Czech Republic), Eva LICHNEROVA (203 Czech Republic), Renata AIGLOVA (203 Czech Republic), Jan LHOTSKY (203 Czech Republic), Jiri VONDRAK (203 Czech Republic), Gabriela DOSTALOVA (203 Czech Republic), Milos TABORSKY (203 Czech Republic), David KASPER (203 Czech Republic) and Ales LINHART (203 Czech Republic, guarantor)

Edition

ESC Heart Failure, San Francisco, Wiley Periodicals, 2022, 2055-5822

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30201 Cardiac and Cardiovascular systems

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.800

RIV identification code

RIV/00216224:14110/22:00128280

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1002/ehf2.14135

UT WoS

000852286600001

Keywords in English

Fabry disease; Hypertrophic cardiomyopathy; Screening; Alpha-galactosidase; Lyso-Gb(3); Genetic testing

Abstract

V originále

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.

Citovat

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.

@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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