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Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy.

Bueno-Beti, C; Asimaki, A (2021) Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy. Front Cardiovasc Med, 8. p. 746321. ISSN 2297-055X https://doi.org/10.3389/fcvm.2021.746321
SGUL Authors: Asimaki, Angeliki

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Abstract

Arrhythmogenic cardiomyopathy (ACM) is a heritable heart muscle disease characterized by syncope, palpitations, ventricular arrhythmias and sudden cardiac death (SCD) especially in young individuals. It is estimated to affect 1:5,000 individuals in the general population, with >60% of patients bearing one or more mutations in genes coding for desmosomal proteins. Desmosomes are intercellular adhesion junctions, which in cardiac myocytes reside within the intercalated disks (IDs), the areas of mechanical and electrical cell-cell coupling. Histologically, ACM is characterized by fibrofatty replacement of cardiac myocytes predominantly in the right ventricular free wall though left ventricular and biventricular forms have also been described. The disease is characterized by age-related progression, vast phenotypic manifestation and incomplete penetrance, making proband diagnosis and risk stratification of family members particularly challenging. Key protein redistribution at the IDs may represent a specific diagnostic marker but its applicability is still limited by the need for a myocardial sample. Specific markers of ACM in surrogate tissues, such as the blood and the buccal epithelium, may represent a non-invasive, safe and inexpensive alternative for diagnosis and cascade screening. In this review, we shall cover the most relevant biomarkers so far reported and discuss their potential impact on the diagnosis, prognosis and management of ACM.

Item Type: Article
Additional Information: Copyright © 2021 Bueno-Beti and Asimaki. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: arrhythmogenic cardiomyopathy, buccal cells, desmosomes, histopathology, intercalated disk, plasma auto-antibodies, protein markers, sudden cardiac death, arrhythmogenic cardiomyopathy, sudden cardiac death, desmosomes, intercalated disk, histopathology, protein markers, buccal cells, plasma auto-antibodies
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Front Cardiovasc Med
ISSN: 2297-055X
Language: eng
Dates:
DateEvent
7 December 2021Published
17 November 2021Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
M689Rosetrees Trusthttp://dx.doi.org/10.13039/501100000833
PG/18/27/33616British Heart Foundationhttp://dx.doi.org/10.13039/501100000274
208460/Z/17/ZWellcome Trusthttp://dx.doi.org/10.13039/100004440
PubMed ID: 34950711
Web of Science ID: WOS:000733590500001
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/113980
Publisher's version: https://doi.org/10.3389/fcvm.2021.746321

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