CASE REPORT article
Front. Cardiovasc. Med.
Sec. General Cardiovascular Medicine
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1483390
This article is part of the Research TopicCase Reports in General Cardiovascular Medicine: 2024View all 10 articles
Genetic Mimics of Hypertrophic Cardiomyopathy in Elderly: Case Series and Review
Provisionally accepted
Olga S. Chumakova1,2*
Olga A. Drobyazko2
Elena A. Stepanova3
Alexander A. Pushkov4Kirill V. Savostyanov4
Dmitry A. Zateyshchikov1,2- 1Moscow City Clinical Hospital No.17, Moscow, Russia
- 2Federal Research and Clinical Center of Specialized Medical Care and Medical Technologies FMBA of Russia, Moscow, Russia
- 3Federal State Budgetary Educational Institution of Further Professional Education "Russian Medical Academy of Continuous Professional Education"of the Ministry of Healthcare of the Russian Federation, Moscow, Russia
- 4National Medical Research Center for Children's Health of the Russian Federation Ministry of Health, Moscow, Russia
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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.
Keywords: Hypertrophic Cardiomyopathy, Elderly, Phenocopies, diagnostics, case series
Received: 19 Aug 2024; Accepted: 23 May 2025.
Copyright: © 2025 Chumakova, Drobyazko, Stepanova, Pushkov, Savostyanov and Zateyshchikov. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Olga S. Chumakova, Moscow City Clinical Hospital No.17, Moscow, Russia
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