REVIEW   

Minerva Medica 2021 April;112(2):269-80

DOI: 10.23736/S0026-4806.20.06782-8

Copyright © 2020 EDIZIONI MINERVA MEDICA

language: English

Differential diagnosis of arrhythmogenic cardiomyopathy: phenocopies versus disease variants

Alberto CIPRIANI ¹, Martina PERAZZOLO MARRA ¹, Riccardo BARIANI ¹, Giulia MATTESI ¹, Riccardo VIO ¹, Natascia BETTELLA ¹, Manuel DE LAZZARI ¹, Raffaella MOTTA ², Barbara BAUCE ¹, Alessandro ZORZI ¹, Domenico CORRADO ¹ ✉

¹ Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy; ² Unit of Radiology, Department of Medicine, Medical School, University of Padua, Padua, Italy

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart muscle disease caused by mutations of desmosomal genes in about 50% of patients. Affected patients may have defective non-desmosomal genes. The ACM phenotype may occur in other genetic cardiomyopathies, cardio-cutaneous syndromes or neuromuscular disorders. A sizeable proportion of patients have non-genetic diseases with clinical features resembling ACM (phenocopies). The identification of biventricular and left-dominant phenotypic variants has made differential diagnosis more difficult because of the broader spectrum of phenocopies which requires a detailed clinical study with appropriate evaluation of most prominent and discriminatory disease features. Conditions that enter into differential diagnosis of ACM include heart muscle diseases affecting the right ventricle, the left ventricle, or both. To confirm a conclusive diagnosis of ACM, these differential possibilities need to be reasonably excluded by an accurate and targeted clinical evaluation. This article reviews the clinical and imaging features of major phenocopies of ACM and provides indications for differential diagnosis. The recent etiologic classification of Arrhythmogenic Cardiomyopathies, whose common denominator is the distinctive phenotype characterized by a hypokinetic and non-dilated ventricle with a large amount of myocardial fibrosis underlying its propensity to generate ventricular arrhythmias is also addressed.

KEY WORDS: Cardiomyopathy; Differential diagnosis; Mutation