Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy

Florio, Maria Teresa; Boccia, Filomena; Vetrano, Erica; Borrelli, Marco; Gossios, Thomas; Palmiero, Giuseppe

doi:10.3390/cardiogenetics11040025

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Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy

by

Maria Teresa Florio

¹,

Filomena Boccia

¹,

Erica Vetrano

¹,

Marco Borrelli

¹,

Thomas Gossios

² and

Giuseppe Palmiero

^3,*

¹

Division of Internal Medicine, University of Campania “Luigi Vanvitelli”, 80131 Naples, Italy

²

Laboratory of Cardiomyopathies and Inherited Cardiac Diseases, Aristotle University of Thessaloniki 1st Cardiology Department, AHEPA University Hospital, 546 21 Thessaloniki, Greece

³

Inherited and Rare Cardiovascular Disease Unit, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, 80131 Naples, Italy

^*

Author to whom correspondence should be addressed.

Cardiogenetics 2021, 11(4), 263-289; https://doi.org/10.3390/cardiogenetics11040025

Submission received: 6 May 2021 / Revised: 31 October 2021 / Accepted: 23 November 2021 / Published: 8 December 2021

(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)

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Abstract

Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial disease associated with sudden cardiac death (SCD). It is most frequently caused by mutations in genes encoding desmosomal proteins. However, there is growing evidence that ACM is not exclusively a desmosome disease but rather appears to be a disease of the connexoma. Fibroadipose replacement of the right ventricle (RV) had long been the hallmark of ACM, although biventricular involvement or predominant involvement of the left ventricle (LD-ACM) is increasingly found, raising the challenge of differential diagnosis with arrhythmogenic dilated cardiomyopathy (a-DCM). A-DCM, ACM, and LD-ACM are increasingly acknowledged as a single nosological entity, the hallmark of which is electrical instability. Our aim was to analyze the complex molecular mechanisms underlying arrhythmogenic cardiomyopathies, outlining the role of inflammation and autoimmunity in disease pathophysiology. Secondly, we present the clinical tools used in the clinical diagnosis of ACM. Focusing on the challenge of defining the risk of sudden death in this clinical setting, we present available risk stratification strategies. Lastly, we summarize the role of genetics and imaging in risk stratification, guiding through the appropriate patient selection for ICD implantation.

Keywords: arrhythmogenic cardiomyopathy; Brugada syndrome; connexoma; dilated cardiomyopathy

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MDPI and ACS Style

Florio, M.T.; Boccia, F.; Vetrano, E.; Borrelli, M.; Gossios, T.; Palmiero, G. Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy. Cardiogenetics 2021, 11, 263-289. https://doi.org/10.3390/cardiogenetics11040025

AMA Style

Florio MT, Boccia F, Vetrano E, Borrelli M, Gossios T, Palmiero G. Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy. Cardiogenetics. 2021; 11(4):263-289. https://doi.org/10.3390/cardiogenetics11040025

Chicago/Turabian Style

Florio, Maria Teresa, Filomena Boccia, Erica Vetrano, Marco Borrelli, Thomas Gossios, and Giuseppe Palmiero. 2021. "Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy" Cardiogenetics 11, no. 4: 263-289. https://doi.org/10.3390/cardiogenetics11040025

APA Style

Florio, M. T., Boccia, F., Vetrano, E., Borrelli, M., Gossios, T., & Palmiero, G. (2021). Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy. Cardiogenetics, 11(4), 263-289. https://doi.org/10.3390/cardiogenetics11040025

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Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy

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