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Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes enc...

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Autores principales: Andreeva, Sofiya, Chumakova, Olga, Karelkina, Elena, Lebedeva, Viktoriya, Lubimtseva, Tamara, Semenov, Andrey, Nikitin, Alexey, Speshilov, Gleb, Kozyreva, Alexandra, Sokolnikova, Polina, Zhuk, Sergey, Fomicheva, Yuliya, Moiseeva, Olga, Kostareva, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8901572/
https://www.ncbi.nlm.nih.gov/pubmed/35273634
http://dx.doi.org/10.3389/fgene.2022.743472
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author Andreeva, Sofiya
Chumakova, Olga
Karelkina, Elena
Lebedeva, Viktoriya
Lubimtseva, Tamara
Semenov, Andrey
Nikitin, Alexey
Speshilov, Gleb
Kozyreva, Alexandra
Sokolnikova, Polina
Zhuk, Sergey
Fomicheva, Yuliya
Moiseeva, Olga
Kostareva, Anna
author_facet Andreeva, Sofiya
Chumakova, Olga
Karelkina, Elena
Lebedeva, Viktoriya
Lubimtseva, Tamara
Semenov, Andrey
Nikitin, Alexey
Speshilov, Gleb
Kozyreva, Alexandra
Sokolnikova, Polina
Zhuk, Sergey
Fomicheva, Yuliya
Moiseeva, Olga
Kostareva, Anna
author_sort Andreeva, Sofiya
collection PubMed
description Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins. However, HCM is associated with rare genetic variants with limited data about its clinical course and prognosis, and existing risk prediction models are not validated for such patients’ cohorts. TRIM63 is one of the rare genes recently described as a cause of HCM with autosomal-recessive inheritance. Herein, we present two cases of HCM associated with TRIM63-compound heterozygous variants in young male sportsmen. They demonstrated progressively marked hypertrophy, advanced diastolic dysfunction, a significant degree of fibrosis detected by magnetic resonance imaging, and clear indications for implantable cardioverter-defibrillator. One of the cases includes the first description of TRIM63-HCM with extreme hypertrophy. The presented cases are discussed in light of molecular consequences that might underlie cardiac and muscle phenotype in patients with mutations of TRIM63, the master regulator of striated muscle mass.
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spelling pubmed-89015722022-03-09 Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant Andreeva, Sofiya Chumakova, Olga Karelkina, Elena Lebedeva, Viktoriya Lubimtseva, Tamara Semenov, Andrey Nikitin, Alexey Speshilov, Gleb Kozyreva, Alexandra Sokolnikova, Polina Zhuk, Sergey Fomicheva, Yuliya Moiseeva, Olga Kostareva, Anna Front Genet Genetics Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins. However, HCM is associated with rare genetic variants with limited data about its clinical course and prognosis, and existing risk prediction models are not validated for such patients’ cohorts. TRIM63 is one of the rare genes recently described as a cause of HCM with autosomal-recessive inheritance. Herein, we present two cases of HCM associated with TRIM63-compound heterozygous variants in young male sportsmen. They demonstrated progressively marked hypertrophy, advanced diastolic dysfunction, a significant degree of fibrosis detected by magnetic resonance imaging, and clear indications for implantable cardioverter-defibrillator. One of the cases includes the first description of TRIM63-HCM with extreme hypertrophy. The presented cases are discussed in light of molecular consequences that might underlie cardiac and muscle phenotype in patients with mutations of TRIM63, the master regulator of striated muscle mass. Frontiers Media S.A. 2022-02-22 /pmc/articles/PMC8901572/ /pubmed/35273634 http://dx.doi.org/10.3389/fgene.2022.743472 Text en Copyright © 2022 Andreeva, Chumakova, Karelkina, Lebedeva, Lubimtseva, Semenov, Nikitin, Speshilov, Kozyreva, Sokolnikova, Zhuk, Fomicheva, Moiseeva and Kostareva. https://creativecommons.org/licenses/by/4.0/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) and the copyright owner(s) 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.
spellingShingle Genetics
Andreeva, Sofiya
Chumakova, Olga
Karelkina, Elena
Lebedeva, Viktoriya
Lubimtseva, Tamara
Semenov, Andrey
Nikitin, Alexey
Speshilov, Gleb
Kozyreva, Alexandra
Sokolnikova, Polina
Zhuk, Sergey
Fomicheva, Yuliya
Moiseeva, Olga
Kostareva, Anna
Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
title Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
title_full Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
title_fullStr Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
title_full_unstemmed Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
title_short Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
title_sort case report: two new cases of autosomal-recessive hypertrophic cardiomyopathy associated with trim63-compound heterozygous variant
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8901572/
https://www.ncbi.nlm.nih.gov/pubmed/35273634
http://dx.doi.org/10.3389/fgene.2022.743472
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