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

Laia Brunet-Garcia; Alessia Odori; Hannah Fell; Ella Field; Angharad M Roberts; Luke Starling; Juan Pablo Kaski; Elena Cervi

doi:10.1016/j.jaccas.2022.01.013

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

JACC Case Rep. 2022 Mar 2;4(5):287-293. doi: 10.1016/j.jaccas.2022.01.013.

Authors

Laia Brunet-Garcia^{1

2}, Alessia Odori¹, Hannah Fell¹, Ella Field¹, Angharad M Roberts^{1

3}, Luke Starling¹, Juan Pablo Kaski^{1

4}, Elena Cervi^{1

4}

Affiliations

¹ Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom.
² Paediatric Cardiology, Consorci Sanitari del Maresme, Hospital de Mataró, Barcelona, Spain.
³ National Heart and Lung Institute, Imperial College London. London, United Kingdom.
⁴ Institute of Cardiovascular Science, University College London, London, United Kingdom.

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.).

Keywords: ARB, angiotensin receptor blocker; ECG, electrocardiography; HCN4; HCN4, hyperpolarization-activated cyclic nucleotide-gated channel 4; ICD, implantable cardioverter-defibrillator; LV, left ventricle; MVP, mitral valve prolapse; NCC, noncompaction cardiomyopathy; aortic dilatation; cardiomyopathy; noncompaction; sinus bradycardia; sinus node dysfunction.

Publication types

Case Reports