Prognostic impact of genetic testing in dilated cardiomyopathy in a sample of the Brazilian population

• Grant number: 25/03459-1
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: June 01, 2025
• End date: May 31, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: José Eduardo Krieger
• Grantee: Leonardo Cedro Machado
• Host Institution: Instituto do Coração Professor Euryclides de Jesus Zerbini (INCOR). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Introduction: Dilated cardiomyopathy (DCM) can have a pathogenic or likely pathogenic genetic variant in up to 40% of cases. Studies show different prognoses related to the identified genetic variant. Current guidelines recommend genetic evaluation and counseling for individuals with DCM, as well as cascade screening for first-degree relatives, providing an opportunity for early diagnosis and treatment.Justification: Prognostic information is extremely important for the therapeutic planning of the patient, as it can influence outcomes and follow-up. Genetic analysis is a potential prognostic marker in heart failure.Objectives: To determine the prognosis of patients based on genetic test results, both concerning the presence or absence of pathogenic and/or likely pathogenic variants, as well as regarding the different variants identified in genes related to DCM.Methods: An observational, retrospective study will evaluate the prognosis of patients with DCM who underwent genetic testing through the MAPA GENOMA BRASIL - PROADI-SUS program, by assessing survival free of death, hospitalization, heart transplant, malignant ventricular arrhythmias, and advanced heart failure.