: The confirmation of a hypothesis that desmoplakin-related (DSP) cardiomyopathy could represent a distinct clinical entity from the classical, RV-dominant, form of arrhythmogenic cardiomyopathy (ACM), most frequently caused by PKP2 mutations, would without any shadow of doubt signify a turning point in the history of this disease. The concept of gene-specific diseases underneath the umbrella diagnosis of ACM would bring fundamental changes not only in the clinical, diagnostic and therapeutic approach, but also in terms of risk stratification, pushing the scientific community towards a more patient-centred view of the disease, similarly to what has already been done in other inherited arrhythmogenic disease (e.g., Long QT Syndrome; LQTS). We provide a state-of-the-art review, starting with a brief historical framework to give the necessary context and better focus the question. Then, we proceed with a novel, genotype-tophenotype-based comparison of the most important aspects of DSP-related cardiomyopathy with the classical, RV-dominant ACM: this allows us to ascertain not only that the differences between the forms exist, but are also clinically relevant and actionable, leading to the underrecognition of the atypical, DSP-related, LV-dominant forms when applying the current diagnostic criteria. These findings will usher an exciting era, in which the scientific community will try to answer a range of questions, starting from the reasons why different desmosomal mutations cause such different phenotypes.
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