ArticleESC heart failure2022
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.
Article in ESC heart failure, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Staging of Fabry cardiomyopathy in clinical practice: an algorithm proposal.International journal of cardiology. Heart & vasculature · 2026Article
- Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.Biomedicines · 2025Article
- Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.Orphanet journal of rare diseases · 2025Article
- Heart failure in two male patients with late-onset Fabry mutation (IVS4 + 919G > A).ESC heart failure · 2025Article
- Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study.ESC heart failure · 2024Article
- The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.Journal of clinical medicine · 2024Article
- Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy.Arquivos brasileiros de cardiologia · 2024Article
- Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2023Review
- Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.ESC heart failure · 2022Article
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsFabry disease (FD) is a rare X-linked genetic disorder caused by α-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
resultsConsecutive 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
conclusionsWe 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.
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