Abstract

PANTERE, HERNÁN; TUMARKIN, MARIANO; AZZATO, FRANCISCO  and  MILEI, JOSÉ. Arrhythmogenic Cardiomyopathy. Genes and Desmosomal Proteins. Rev. argent. cardiol. [online]. 2022, vol.90, n.5, pp.370-374.  Epub Sep 04, 2022. ISSN 1850-3748.  http://dx.doi.org/10.7775/rac.es.v90.i5.20564.

In 1996 this disease was introduced into the WHO classification of cardiomyopathies with the term “arrhythmogenic cardiomyopathy”. By the end of the 70s the right ventricle (RV) was identified as a substrate for the development of arrhythmias. The replacement of the myocardium by fibrofatty tissue and the hereditary nature of this condition were described in the 1980s. Later findings led to the identification of several genes involved in the production of desmosomal proteins participating in intercellular coupling, which led to defining arrhythmogenic cardiomyopathy as a desmosomal disease. Electrocardiography and echocardiography are fundamental tools, and invasive angiocardiography was used to detect dyskinesia-akinesia and right ventricular aneurysms. Endomyocardial biopsy was established as the gold standard for the diagnosis due to its ability to detect transmural replacement by fibrofatty tissue. The advent of cardiac magnetic resonance imaging (CMRI) with late gadolinium enhancement reveals morphological and functional abnormalities and tissue damage. The understanding of intercalated disc structure involved in intercellular coupling has made it possible to determine that, apart from desmosomes, several desmosomal proteins, as adherens junctions, gap junctions and ion channels are integrated into a unit known as the “ area composita”. The area composita constitutes an amalgam between supporting elements and ion channels that participate in action potential propagation, which has led to develop the concept that intercalated discs are constituted by “adhesion/ excitability nodes”. The clinical implications in the development of malignant arrhythmias are obvious.

Keywords : Arrhythmogenic Right Ventricular Dysplasia; Desmosomes; Ventricular Fibrillation.

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