Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine

Abstract

In childhood and adolescence, cardiomyopathies have their own characteristics and are an important cause of heart failure, arrhythmias, sudden death, and indication for heart transplantation. Diagnosis is a challenge in daily practice due to its varied clinical presentation, heterogeneous etiologies, and limited knowledge of tools related to clinical and molecular genetics. However, it is essential to recognize the different phenotypes and prioritize the search for the etiology. Recent advances in precision medicine have made molecular diagnosis accessible, which makes it possible to individualize therapeutic approaches, stratify the prognosis, and identify individuals in the family who are at risk of developing the disease. The objective of this review is to emphasize the particularities of cardiomyopathies in pediatrics and how the individualized approach impacts the therapy and prognosis of the patient. Through a systematized approach, the five-stage protocol used in our service is presented. These stages bring together clinical evaluation for determining the morphofunctional phenotype, identification of etiology, classification, establishment of prognosis, and the search for personalized therapies.