Predictors of genetic positivity in dilated cardiomiopathy in a sample of the Brazilian population.

• Grant number: 25/03184-2
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: April 01, 2025
• End date: March 31, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: José Eduardo Krieger
• Grantee: Eduardo Kilian Lucena
• 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 (P) or likely pathogenic (LP) genetic variant identified in up to 40% of cases. Current guidelines recommend genetic evaluation and counseling for individuals with DCM, as well as cascade screening for first-degree relatives in cases where one or more variants are identified, providing an opportunity for early diagnosis and treatment.Justification: Financial cost is a limiting factor for the routine use of genetic testing. In this context, identifying factors that may enhance the yield of genetic testing can contribute to cost-effectiveness in clinical practice.Objective: To identify predictors of the identification of P/LP variants (positivity) from genetic testing in DCM within a Brazilian population through a retrospective evaluation of a cohort of patients with DCM who underwent exome sequencing.Methods: This is an observational, retrospective study that will assess clinical, laboratory, and complementary examination characteristics of patients with DCM who underwent genetic testing through the MAPA GENOMA BRASIL - PROADI-SUS program.