A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?

BACKGROUND: Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic t...

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Autores principales: Yu, Bo, Shi, Kun, Wen, Yang, Yang, Yanfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10149031/
https://www.ncbi.nlm.nih.gov/pubmed/37120586
http://dx.doi.org/10.1186/s12872-023-03132-y
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author Yu, Bo
Shi, Kun
Wen, Yang
Yang, Yanfeng
author_facet Yu, Bo
Shi, Kun
Wen, Yang
Yang, Yanfeng
author_sort Yu, Bo
collection PubMed
description BACKGROUND: Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic telangiectasia (HHT2), and there’s no NVM reported to be associated with ACVRL1 mutation. CASE PRESENTATION: This is a rare case diagnosed as iRVNC and pulmonary hypertention with ACVRL1 mutation detected. CONCLUSION: iRVNC in this case may be due to ACVRL1 mutation, secondary to pulmonary hypertention and right ventricular failure caused by ACVRL1 mutation, or they happened in the same case coincidently. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12872-023-03132-y.
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spelling pubmed-101490312023-05-01 A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium? Yu, Bo Shi, Kun Wen, Yang Yang, Yanfeng BMC Cardiovasc Disord Case Report BACKGROUND: Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic telangiectasia (HHT2), and there’s no NVM reported to be associated with ACVRL1 mutation. CASE PRESENTATION: This is a rare case diagnosed as iRVNC and pulmonary hypertention with ACVRL1 mutation detected. CONCLUSION: iRVNC in this case may be due to ACVRL1 mutation, secondary to pulmonary hypertention and right ventricular failure caused by ACVRL1 mutation, or they happened in the same case coincidently. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12872-023-03132-y. BioMed Central 2023-04-29 /pmc/articles/PMC10149031/ /pubmed/37120586 http://dx.doi.org/10.1186/s12872-023-03132-y Text en © The Author(s) 2023 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/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Yu, Bo
Shi, Kun
Wen, Yang
Yang, Yanfeng
A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
title A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
title_full A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
title_fullStr A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
title_full_unstemmed A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
title_short A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
title_sort case report of isolated right ventricular noncompaction with mutation of acvrl1: a new cause of noncompaction of ventricular myocardium?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10149031/
https://www.ncbi.nlm.nih.gov/pubmed/37120586
http://dx.doi.org/10.1186/s12872-023-03132-y
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