Cargando…

A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM), a genetically and clinically heterogeneous cardiomyopathy, is commonly caused by mutations in the MYBPC3 gene or other various sarcomeric genes. HCM patients carrying sarcomeric gene mutations may experience an asymptomatic period at early stage but still possess a...

Descripción completa

Detalles Bibliográficos
Autores principales: Ni, Erru, Wang, Tao, Zhang, Xuan, Xie, Huabin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375074/
https://www.ncbi.nlm.nih.gov/pubmed/37271167
http://dx.doi.org/10.1002/ehf2.14424
_version_ 1785078950016319488
author Ni, Erru
Wang, Tao
Zhang, Xuan
Xie, Huabin
author_facet Ni, Erru
Wang, Tao
Zhang, Xuan
Xie, Huabin
author_sort Ni, Erru
collection PubMed
description Hypertrophic cardiomyopathy (HCM), a genetically and clinically heterogeneous cardiomyopathy, is commonly caused by mutations in the MYBPC3 gene or other various sarcomeric genes. HCM patients carrying sarcomeric gene mutations may experience an asymptomatic period at early stage but still possess an escalating risk of developing adverse cardiac events including sudden cardiac death. It is crucial to determine the phenotypic and pathogenic effects of mutations in sarcomeric genes. In this study, a 65‐year‐old male was admitted with a history of chest pain, dyspnoea, and syncope and with a family history of HCM and sudden cardiac death. On admission, electrocardiogram indicated atrial fibrillation and myocardial infarction. Transthoracic echocardiography revealed left ventricular concentric hypertrophy and systolic dysfunction (48%), which were ascertained by cardiovascular magnetic resonance. With late gadolinium‐enhancement imaging, cardiovascular magnetic resonance found myocardial fibrosis on left ventricular wall. The exercise stress echocardiography test showed non‐obstructive myocardial changes. Whole‐exome sequencing analysis identified a MYBPC3 gene heterozygous nonsense variant (c.1522C>T) in the patient and one of his healthy grandnieces (18‐year‐old). The patient was diagnosed with non‐obstructive HCM, heart failure, atrial fibrillation, and so on. Medications, ICD implantation, and catheter ablation were chosen to maintain heart function. Our study provides the clinical evidence regarding the HCM pathogenicity of MYBPC3 c.1522C>T variant and highlights the significance of family genetic testing in the diagnosis and management of HCM.
format Online
Article
Text
id pubmed-10375074
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-103750742023-07-29 A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy Ni, Erru Wang, Tao Zhang, Xuan Xie, Huabin ESC Heart Fail Case Reports Hypertrophic cardiomyopathy (HCM), a genetically and clinically heterogeneous cardiomyopathy, is commonly caused by mutations in the MYBPC3 gene or other various sarcomeric genes. HCM patients carrying sarcomeric gene mutations may experience an asymptomatic period at early stage but still possess an escalating risk of developing adverse cardiac events including sudden cardiac death. It is crucial to determine the phenotypic and pathogenic effects of mutations in sarcomeric genes. In this study, a 65‐year‐old male was admitted with a history of chest pain, dyspnoea, and syncope and with a family history of HCM and sudden cardiac death. On admission, electrocardiogram indicated atrial fibrillation and myocardial infarction. Transthoracic echocardiography revealed left ventricular concentric hypertrophy and systolic dysfunction (48%), which were ascertained by cardiovascular magnetic resonance. With late gadolinium‐enhancement imaging, cardiovascular magnetic resonance found myocardial fibrosis on left ventricular wall. The exercise stress echocardiography test showed non‐obstructive myocardial changes. Whole‐exome sequencing analysis identified a MYBPC3 gene heterozygous nonsense variant (c.1522C>T) in the patient and one of his healthy grandnieces (18‐year‐old). The patient was diagnosed with non‐obstructive HCM, heart failure, atrial fibrillation, and so on. Medications, ICD implantation, and catheter ablation were chosen to maintain heart function. Our study provides the clinical evidence regarding the HCM pathogenicity of MYBPC3 c.1522C>T variant and highlights the significance of family genetic testing in the diagnosis and management of HCM. John Wiley and Sons Inc. 2023-06-04 /pmc/articles/PMC10375074/ /pubmed/37271167 http://dx.doi.org/10.1002/ehf2.14424 Text en © 2023 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Ni, Erru
Wang, Tao
Zhang, Xuan
Xie, Huabin
A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
title A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
title_full A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
title_fullStr A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
title_full_unstemmed A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
title_short A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
title_sort pathogenic nonsense mutation (c.1522c>t) of the mybpc3 gene is implicated with hypertrophic cardiomyopathy
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375074/
https://www.ncbi.nlm.nih.gov/pubmed/37271167
http://dx.doi.org/10.1002/ehf2.14424
work_keys_str_mv AT nierru apathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy
AT wangtao apathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy
AT zhangxuan apathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy
AT xiehuabin apathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy
AT nierru pathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy
AT wangtao pathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy
AT zhangxuan pathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy
AT xiehuabin pathogenicnonsensemutationc1522ctofthemybpc3geneisimplicatedwithhypertrophiccardiomyopathy