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

David ZemánekJaroslav JanuškaTomáš HoněkKarol ČurilaMiloš KubánekŠtěpánka ŠindelářováLucie ZahálkováPetr KlofáčEliška LaštůvkováEva LichnerováRenata AiglováJan LhotskýJiří VondrákGabriela DostálováMiloš TáborskýDavid KasperAleš Linhart

Published in: ESC heart failure (2022)

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.

Keyphrases

hypertrophic cardiomyopathy
left ventricular
risk factors
gene expression
heart failure
mental health
clinical practice
dna methylation
replacement therapy
atrial fibrillation
genome wide