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Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report
BACKGROUND: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are pr...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140951/ https://www.ncbi.nlm.nih.gov/pubmed/34021826 http://dx.doi.org/10.1186/s43044-021-00165-6 |
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author | Das, Soumi Seth, Sandeep |
author_facet | Das, Soumi Seth, Sandeep |
author_sort | Das, Soumi |
collection | PubMed |
description | BACKGROUND: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are present in a large number of genes. In the present study, we report a case of the early age of onset of DCM associated with a pathogenic variant in the RBM20 gene in a patient from India. CASE PRESENTATION: A 19-year-old Indian male diagnosed with DCM was suggested for heart transplantation. His ECG showed LBBB and echocardiography showed an ejection fraction of 14%. He had a sudden cardiac death. A detailed family history revealed it to be a case of familial DCM. Genetic screening identified the c.1900C>T variant in the RBM20 gene which led to a missense variant of amino acid 634 (p.Arg634Trp). CONCLUSION: To the best of our knowledge, the variant p.Arg634Trp has been earlier reported in the Western population, but this is the first case of p.Arg634Trp in an Indian patient. The variant has been reported to be pathogenic at an early age of onset; therefore, close clinical follow-up should be done for the family members caring for the variant. |
format | Online Article Text |
id | pubmed-8140951 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-81409512021-06-07 Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report Das, Soumi Seth, Sandeep Egypt Heart J Case Report BACKGROUND: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are present in a large number of genes. In the present study, we report a case of the early age of onset of DCM associated with a pathogenic variant in the RBM20 gene in a patient from India. CASE PRESENTATION: A 19-year-old Indian male diagnosed with DCM was suggested for heart transplantation. His ECG showed LBBB and echocardiography showed an ejection fraction of 14%. He had a sudden cardiac death. A detailed family history revealed it to be a case of familial DCM. Genetic screening identified the c.1900C>T variant in the RBM20 gene which led to a missense variant of amino acid 634 (p.Arg634Trp). CONCLUSION: To the best of our knowledge, the variant p.Arg634Trp has been earlier reported in the Western population, but this is the first case of p.Arg634Trp in an Indian patient. The variant has been reported to be pathogenic at an early age of onset; therefore, close clinical follow-up should be done for the family members caring for the variant. Springer Berlin Heidelberg 2021-05-22 /pmc/articles/PMC8140951/ /pubmed/34021826 http://dx.doi.org/10.1186/s43044-021-00165-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Case Report Das, Soumi Seth, Sandeep Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report |
title | Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report |
title_full | Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report |
title_fullStr | Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report |
title_full_unstemmed | Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report |
title_short | Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report |
title_sort | familial dilated cardiomyopathy with rbm20 mutation in an indian patient: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140951/ https://www.ncbi.nlm.nih.gov/pubmed/34021826 http://dx.doi.org/10.1186/s43044-021-00165-6 |
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