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

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. Green open access

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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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