Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?

HCN4 mutations have been reported in association with sick sinus syndrome. A more complex phenotype, including noncompaction cardiomyopathy and aortic dilatation, has recently emerged. We report 3 family members with the pathogenic p.Gly482Arg variant, emphasizing the importance of considering HCN4...

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Detalles Bibliográficos
Autores principales: Brunet-Garcia, Laia, Odori, Alessia, Fell, Hannah, Field, Ella, Roberts, Angharad M., Starling, Luke, Kaski, Juan Pablo, Cervi, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897149/
https://www.ncbi.nlm.nih.gov/pubmed/35257104
http://dx.doi.org/10.1016/j.jaccas.2022.01.013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897149/
https://www.ncbi.nlm.nih.gov/pubmed/35257104
http://dx.doi.org/10.1016/j.jaccas.2022.01.013

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