Abstract Cardiomyopathies, myocardial diseases without other causative factors like hypertension or coronary artery disease, were once considered rare but have seen increased diagnoses due to improved imaging and clinical awareness. Recent categorizations based on predominant phenotypes, such as hypertrophic cardiomyopathy, dilated cardiomyopathy, non-dilated left ventricular cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy highlight their complexity. Phenotype characterization is challenging due to overlapping features among different cardiomyopathies, making genetic testing indispensable, offering insights into etiology, risks, and guiding treatments. Advancements […]

Abstract Cardiomyopathies constitute a heterogeneous group of diseases with varying etiologies and clinical presentation. Advances in genetic testing have made it possible to establish genotype-phenotype relationships, determine prognosis, and choose specific treatments in the pediatric population. Therefore, the objective of this review is to assist clinical reasoning and underscore the importance of etiological diagnosis in different disease phenotypes.