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Cardiac Involvement in Mitochondrial Disorders
PURPOSE OF REVIEW: We review pathophysiology and clinical features of mitochondrial disorders manifesting with cardiomyopathy. RECENT FINDINGS: Mechanistic studies have shed light into the underpinnings of mitochondrial disorders, providing novel insights into mitochondrial physiology and identifyin...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977856/ https://www.ncbi.nlm.nih.gov/pubmed/36802007 http://dx.doi.org/10.1007/s11897-023-00592-3 |
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author | Popoiu, Tudor-Alexandru Dudek, Jan Maack, Christoph Bertero, Edoardo |
author_facet | Popoiu, Tudor-Alexandru Dudek, Jan Maack, Christoph Bertero, Edoardo |
author_sort | Popoiu, Tudor-Alexandru |
collection | PubMed |
description | PURPOSE OF REVIEW: We review pathophysiology and clinical features of mitochondrial disorders manifesting with cardiomyopathy. RECENT FINDINGS: Mechanistic studies have shed light into the underpinnings of mitochondrial disorders, providing novel insights into mitochondrial physiology and identifying new therapeutic targets. SUMMARY: Mitochondrial disorders are a group of rare genetic diseases that are caused by mutations in mitochondrial DNA (mtDNA) or in nuclear genes that are essential to mitochondrial function. The clinical picture is extremely heterogeneous, the onset can occur at any age, and virtually, any organ or tissue can be involved. Since the heart relies primarily on mitochondrial oxidative metabolism to fuel contraction and relaxation, cardiac involvement is common in mitochondrial disorders and often represents a major determinant of their prognosis. |
format | Online Article Text |
id | pubmed-9977856 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-99778562023-03-03 Cardiac Involvement in Mitochondrial Disorders Popoiu, Tudor-Alexandru Dudek, Jan Maack, Christoph Bertero, Edoardo Curr Heart Fail Rep Article PURPOSE OF REVIEW: We review pathophysiology and clinical features of mitochondrial disorders manifesting with cardiomyopathy. RECENT FINDINGS: Mechanistic studies have shed light into the underpinnings of mitochondrial disorders, providing novel insights into mitochondrial physiology and identifying new therapeutic targets. SUMMARY: Mitochondrial disorders are a group of rare genetic diseases that are caused by mutations in mitochondrial DNA (mtDNA) or in nuclear genes that are essential to mitochondrial function. The clinical picture is extremely heterogeneous, the onset can occur at any age, and virtually, any organ or tissue can be involved. Since the heart relies primarily on mitochondrial oxidative metabolism to fuel contraction and relaxation, cardiac involvement is common in mitochondrial disorders and often represents a major determinant of their prognosis. Springer US 2023-02-18 2023 /pmc/articles/PMC9977856/ /pubmed/36802007 http://dx.doi.org/10.1007/s11897-023-00592-3 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/) . |
spellingShingle | Article Popoiu, Tudor-Alexandru Dudek, Jan Maack, Christoph Bertero, Edoardo Cardiac Involvement in Mitochondrial Disorders |
title | Cardiac Involvement in Mitochondrial Disorders |
title_full | Cardiac Involvement in Mitochondrial Disorders |
title_fullStr | Cardiac Involvement in Mitochondrial Disorders |
title_full_unstemmed | Cardiac Involvement in Mitochondrial Disorders |
title_short | Cardiac Involvement in Mitochondrial Disorders |
title_sort | cardiac involvement in mitochondrial disorders |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977856/ https://www.ncbi.nlm.nih.gov/pubmed/36802007 http://dx.doi.org/10.1007/s11897-023-00592-3 |
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