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Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report
Peripartum cardiomyopathy (PPCM) is characterized by development of left ventricular systolic dysfunction and heart failure that occurs towards the end of pregnancy or in the postpartum period in the absence of structural heart disease. A complex interplay of pathophysiological mechanisms likely con...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118298/ https://www.ncbi.nlm.nih.gov/pubmed/32257832 http://dx.doi.org/10.1016/j.crwh.2020.e00196 |
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author | Rajapreyar, Indranee Sinkey, Rachel Pamboukian, Salpy V. Tita, Alan |
author_facet | Rajapreyar, Indranee Sinkey, Rachel Pamboukian, Salpy V. Tita, Alan |
author_sort | Rajapreyar, Indranee |
collection | PubMed |
description | Peripartum cardiomyopathy (PPCM) is characterized by development of left ventricular systolic dysfunction and heart failure that occurs towards the end of pregnancy or in the postpartum period in the absence of structural heart disease. A complex interplay of pathophysiological mechanisms likely contributes to the PPCM phenotype. Mutations in the mitochondrial thioredoxin reductase gene (TXNRD2) have been identified as a cause of dilated cardiomyopathy. We report a case of a shared, inherited genetic mutation in the TXNRD2 gene in a mother with PPCM and her infant son who died of dilated cardiomyopathy. |
format | Online Article Text |
id | pubmed-7118298 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-71182982020-04-06 Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report Rajapreyar, Indranee Sinkey, Rachel Pamboukian, Salpy V. Tita, Alan Case Rep Womens Health Article Peripartum cardiomyopathy (PPCM) is characterized by development of left ventricular systolic dysfunction and heart failure that occurs towards the end of pregnancy or in the postpartum period in the absence of structural heart disease. A complex interplay of pathophysiological mechanisms likely contributes to the PPCM phenotype. Mutations in the mitochondrial thioredoxin reductase gene (TXNRD2) have been identified as a cause of dilated cardiomyopathy. We report a case of a shared, inherited genetic mutation in the TXNRD2 gene in a mother with PPCM and her infant son who died of dilated cardiomyopathy. Elsevier 2020-03-26 /pmc/articles/PMC7118298/ /pubmed/32257832 http://dx.doi.org/10.1016/j.crwh.2020.e00196 Text en © 2020 The Authors. Published by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Article Rajapreyar, Indranee Sinkey, Rachel Pamboukian, Salpy V. Tita, Alan Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report |
title | Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report |
title_full | Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report |
title_fullStr | Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report |
title_full_unstemmed | Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report |
title_short | Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report |
title_sort | did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? a case report |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118298/ https://www.ncbi.nlm.nih.gov/pubmed/32257832 http://dx.doi.org/10.1016/j.crwh.2020.e00196 |
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