A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing in...

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Detalles Bibliográficos
Autores principales: McKinney, Lauren M., Clark, Mariah C., Ellis, Alexander R., Schrier Vergano, Samantha A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10157145/
https://www.ncbi.nlm.nih.gov/pubmed/37152704
http://dx.doi.org/10.1016/j.jaccas.2023.101837
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author McKinney, Lauren M.
Clark, Mariah C.
Ellis, Alexander R.
Schrier Vergano, Samantha A.
author_facet McKinney, Lauren M.
Clark, Mariah C.
Ellis, Alexander R.
Schrier Vergano, Samantha A.
author_sort McKinney, Lauren M.
collection PubMed
description This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (Level of Difficulty: Advanced.)
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spelling pubmed-101571452023-05-05 A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia McKinney, Lauren M. Clark, Mariah C. Ellis, Alexander R. Schrier Vergano, Samantha A. JACC Case Rep Case Report This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (Level of Difficulty: Advanced.) Elsevier 2023-04-19 /pmc/articles/PMC10157145/ /pubmed/37152704 http://dx.doi.org/10.1016/j.jaccas.2023.101837 Text en © 2023 The Authors https://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 Case Report
McKinney, Lauren M.
Clark, Mariah C.
Ellis, Alexander R.
Schrier Vergano, Samantha A.
A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia
title A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia
title_full A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia
title_fullStr A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia
title_full_unstemmed A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia
title_short A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia
title_sort genetic etiology identified for a form of familial polyvalvular dysplasia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10157145/
https://www.ncbi.nlm.nih.gov/pubmed/37152704
http://dx.doi.org/10.1016/j.jaccas.2023.101837
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