Brunet-Garcia, L;
Odori, A;
Fell, H;
Field, E;
Roberts, AM;
Starling, L;
Kaski, JP;
(2022)
Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?
JACC: Case Reports
, 4
(5)
pp. 287-293.
10.1016/j.jaccas.2022.01.013.
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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.)
| Type: | Article |
|---|---|
| Title: | Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis? |
| Location: | Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jaccas.2022.01.013 |
| Publisher version: | https://doi.org/10.1016/j.jaccas.2022.01.013 |
| Language: | English |
| Additional information: | © 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/). |
| Keywords: | aortic dilatation; cardiomyopathy; HCN4; noncompaction; sinus bradycardia; sinus node dysfunction |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10149752 |
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