Prevalence of cardiac amyloidosis and Fabry disease among adult patients with hypertrophic cardiomyopathy phenotype: data from a Russian single-center study and meta-analysis

Aim. To assess the incidence of cardiac amyloidosis and Fabry disease among adult patients with hypertrophic cardiomyopathy (HCM) phenotype in a Russian observational study and compare the results with international data based on a meta-analysis.

Material and methods. This prospective study conducted at City Clinical Hospital № 17 (Moscow) from 2009 to 2024 included 223 patients with the HCM phenotype (mean age 54±14,9 years, 55% men). All patients underwent clinical, paraclinical and genetic examinations. Phenocopy diagnoses were verified according to guidelines. Their proportion in general cohort was then compared with data from a metaanalysis of publications identified through a systematic search of PubMed for the prevalence of cardiac AL and ATTRv amyloidosis and Fabry disease among adult patients with HCM.

Results. In our cohort, the diagnosis was revised to AL amyloidosis in six (2,7%), to ATTRv amyloidosis in three (1,4%), and to Fabry disease in one (0,5%) patient. The meta-analysis included 16 studies (n=8243). No differences were found between Russian data and data from other populations. There was following overall prevalence of phenocopies, based on the meta-analysis results and taking into account the Russian cohort: AL amyloidosis — 1,8%, ATTRv amyloidosis — 1,2%, and Fabry disease — 1,2%.

Conclusion. Phenocopies account for a significant proportion of HCM phenotype causes in adults, and their prevalence in Russia is comparable to other populations. Apprehensive attitude and mandatory genetic testing can improve the detection of rare diseases imitating HCM.

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