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  5. Noncompaction cardiomyopathy, sick sinus disease, and aortic dilatation
 
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Noncompaction cardiomyopathy, sick sinus disease, and aortic dilatation
File(s)
1-s2.0-S2666084922000742-main.pdf (2.84 MB)
Published version
Author(s)
Brunet-Garcia, Laia
Odori, Alessia
Fell, Hannah
Field, Ella
Roberts, Angharad M
more
Type
Journal Article
Abstract
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 mutations when this combination of features is encountered in clinical practice. (Level of Difficulty: Advanced.)
Date Issued
2022-03-02
Date Acceptance
2022-01-14
Citation
JACC: Case Reports, 2022, 4 (5), pp.287-293
URI
http://hdl.handle.net/10044/1/114978
URL
http://dx.doi.org/10.1016/j.jaccas.2022.01.013
DOI
https://www.dx.doi.org/10.1016/j.jaccas.2022.01.013
ISSN
2666-0849
Publisher
Elsevier BV
Start Page
287
End Page
293
Journal / Book Title
JACC: Case Reports
Volume
4
Issue
5
Copyright Statement
© 2022 Published by Elsevier on behalf of the American College of Cardiology Foundation. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ) .
License URL
https://creativecommons.org/licenses/by-nc-nd/4.0/
Identifier
http://dx.doi.org/10.1016/j.jaccas.2022.01.013
Publication Status
Published
Date Publish Online
2022-03-02
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