Key result
Hypertrophic cardiomyopathy or left ventricular hypertrophy of unknown origin was diagnosed in 8.6% of adult patients with Fabry disease.
Why the study?
What is the occurrence and clinical characteristics of a cardiac phenotype imitating hypertrophic cardiomyopathy in adult patients with Fabry disease?
Cross-Sectional (n=187)
No
What is the occurrence and clinical characteristics of a cardiac phenotype imitating hypertrophic cardiomyopathy in adult patients with Fabry disease?
Fabry disease should be systematically excluded via genetic and biomarker screening in adult patients presenting with unexplained hypertrophic cardiomyopathy, as it accounts for a notable subset of cases and often presents with other systemic signs.
8.6% of Fabry patients show HCM-like LVH; extends cross-sectional phenotyping but leaves open prospective screening validation.
To evaluate the occurence of cardiac phenotype imitating hypertrophic cardiomyopathy (HCMP) in adult patients with Fabry disease.
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Moiseev et al. (2023) conducted a cross-sectional in Fabry disease (n=187). Fabry disease was evaluated on Frequency of hypertrophic cardiomyopathy or left ventricular hypertrophy of unknown origin. Hypertrophic cardiomyopathy or left ventricular hypertrophy of unknown origin was diagnosed in 8.6% of adult patients with Fabry disease.
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