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.

Základní údaje

Originální název

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

Autoři

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30201 Cardiac and Cardiovascular systems

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.800

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/22:00128280

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

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

Štítky

14110115, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 25. 1. 2023 14:35, Mgr. Tereza Miškechová

Anotace

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 a Ales LINHART. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. ESC Heart Failure. San Francisco: Wiley Periodicals, 2022, roč. 9, č. 6, s. 4160-4166. ISSN 2055-5822. Dostupné z: https://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 = {https://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 a Ales LINHART. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. \textit{ESC Heart Failure}. San Francisco: Wiley Periodicals, 2022, roč.~9, č.~6, s.~4160-4166. ISSN~2055-5822. Dostupné z: https://doi.org/10.1002/ehf2.14135.

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