Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly
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 h...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-06-01
|
| Series: | Frontiers in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1483390/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849332040974991360 |
|---|---|
| author | Olga S. Chumakova Olga S. Chumakova Olga A. Drobyazko Elena A. Stepanova Alexander A. Pushkov Kirill V. Savostyanov Dmitry A. Zateyshchikov Dmitry A. Zateyshchikov |
| author_facet | Olga S. Chumakova Olga S. Chumakova Olga A. Drobyazko Elena A. Stepanova Alexander A. Pushkov Kirill V. Savostyanov Dmitry A. Zateyshchikov Dmitry A. Zateyshchikov |
| author_sort | Olga S. Chumakova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7310687625a64189a046bcc3b3497cc8 |
| institution | Kabale University |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-7310687625a64189a046bcc3b3497cc82025-08-20T03:46:20ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-06-011210.3389/fcvm.2025.14833901483390Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderlyOlga S. Chumakova0Olga S. Chumakova1Olga A. Drobyazko2Elena A. Stepanova3Alexander A. Pushkov4Kirill V. Savostyanov5Dmitry A. Zateyshchikov6Dmitry A. Zateyshchikov7Cardiological Department, Moscow City Clinical Hospital No. 17, Moscow, RussiaFederal Research and Clinical Center of Specialized Medical Care and Medical Technologies FMBA of Russia, Moscow, RussiaFederal Research and Clinical Center of Specialized Medical Care and Medical Technologies FMBA of Russia, Moscow, RussiaPathological Anatomy Department, Federal 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, RussiaGenetic Laboratory, National Medical Research Center for Children’s Health of the Russian Federation Ministry of Health, Moscow, RussiaGenetic Laboratory, National Medical Research Center for Children’s Health of the Russian Federation Ministry of Health, Moscow, RussiaCardiological Department, Moscow City Clinical Hospital No. 17, Moscow, RussiaFederal Research and Clinical Center of Specialized Medical Care and Medical Technologies FMBA of Russia, Moscow, RussiaHypertrophic 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.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1483390/fullhypertrophic cardiomyopathyelderlyphenocopiesamyloidosisFabry diseasedesminopathy |
| spellingShingle | Olga S. Chumakova Olga S. Chumakova Olga A. Drobyazko Elena A. Stepanova Alexander A. Pushkov Kirill V. Savostyanov Dmitry A. Zateyshchikov Dmitry A. Zateyshchikov Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly Frontiers in Cardiovascular Medicine hypertrophic cardiomyopathy elderly phenocopies amyloidosis Fabry disease desminopathy |
| title | Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly |
| title_full | Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly |
| title_fullStr | Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly |
| title_full_unstemmed | Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly |
| title_short | Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly |
| title_sort | case series genetic mimics of hypertrophic cardiomyopathy in elderly |
| topic | hypertrophic cardiomyopathy elderly phenocopies amyloidosis Fabry disease desminopathy |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1483390/full |
| work_keys_str_mv | AT olgaschumakova caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly AT olgaschumakova caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly AT olgaadrobyazko caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly AT elenaastepanova caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly AT alexanderapushkov caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly AT kirillvsavostyanov caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly AT dmitryazateyshchikov caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly AT dmitryazateyshchikov caseseriesgeneticmimicsofhypertrophiccardiomyopathyinelderly |