Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study.

ABSTRACT:

Aims

Left ventricular hypertrophy (LVH) is frequently detected via echocardiography in individuals with Fabry disease (FD), sometimes leading to confusion with hypertrophic cardiomyopathy (HCM) of other aetiologies. Considering this diagnosis challenge, FD should be included in the list of differential diagnosis for patients presenting with LVH. To address this concern, we conducted a prospective screening study in China, using dried blood spot (DBS) testing, to evaluate patients with unexplained LVH.

Methods

Our study was designed as a nationwide, multicentre prospective investigation. A total of 1015 patients from 55 different centres who were diagnosed with LVH by echocardiography were screened in the study from September 2022 to December 2023. Demographic information, bi

SUBMITTER: Lin Z 

PROVIDER: S-EPMC11631229 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature