Why the study?
In elderly patients, extracardiac manifestations of rare conditions mimicking HCM may be subtle or misattributed to aging or other diseases, complicating diagnosis and underscoring the role of genetic testing.
Highlights the importance of genetic testing in elderly patients with an HCM phenotype to accurately diagnose rare syndromic mimics like amyloidosis and Fabry disease.
May support targeted genetic testing in select HCM phenotypes; leaves open prevalence and practice impact pending larger studies.
Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiac disorder, primarily driven by pathogenic nucleotide variants (PNVs) in the genes that encode sarcomeric proteins. Such PNVs cause a disruption of cardiomyocytes. Notably, up to 5% of patients with an HCM phenotype may actually have other conditions that mimic HCM. These rarer, predominately hereditary syndromic diseases can be clinically suspected through specific “red flags”. However, in elderly patients, extracardiac manifestations may be subtle or misattributed to other diseases or the aging process, complicating the clinical diagnosis. In such cases, genetic testing becomes essential for achieving an accurate diagnosis and guiding specific treatment strategies. Screening younger relatives for genetic predispositions offers additional benefits in the era of emerging novel therapeutic technologies. In this study, we present comprehensive genetic and clinical characterization of three cases of HCM mimics, including amyloidosis, Fabry disease (FD), and desminopathy caused by TTR p.V50M, GLA p.N215S, and DES p.R355* PNVs, respectively. We also provide a brief review of the literature addressing the diagnostic challenges of associated with these rare conditions.
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Чумакова et al. (2025) studied this question.
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