Caracterización clínica y genética de los pacientes pediátricos con miocardiopatía atendidos en una institución cardiovascular de la ciudad de Bogotá entre enero de 2015 y junio de 2021

Abstract

Introduction: Cardiomyopathies are a heterogeneous group of entities that compromise the function and structure of the heart muscle, generating myocardial dysfunction, heart failure and even sudden death. The Latin American literature is limited in terms of the genetic etiology of cardiomyopathies in children, which limits the implementation of promotion and prevention measures in patients and their families. Methods: In order to describe the clinical and genetic characteristics involved in the diagnosis of cardiomyopathy, a case series study was carried out, which included patients from 0 to 18 years old with a diagnosis of cardiomyopathy. Results: Dilated cardiomyopathy (DCM) was identified as the most frequent type (37.1%), followed by hypertrophic cardiomyopathy (HCM), which represents 20% of all patients. Systodiastolic dysfunction was present in 30.6%, with 57.5% requiring general hospitalization, 29.2% in the intensive care unit, and 7.14% receiving a heart transplant. Family history was documented in 19.7% of the patients, six cases of consanguinity in the first degree. The predominant manifestations were dyspnea, cyanosis and cough. 35.5% of the children were asymptomatic. Of the total number of patients, only 40.3% underwent a molecular study that showed pathogenic and probably pathogenic variants for the MYH7, MYL2, TNNI3, and TPM genes. Conclusion: The importance of performing molecular genetic studies in all pediatric patients diagnosed with cardiomyopathy is reaffirmed. This retrospective study suggests that 1 in 6 children may have a pathogenic or probably pathogenic variant.