Macapa

Researchers are developing a registry of Brazilian patients with hereditary cardiovascular diseases by combining clinical information and genetic data. The study aims to identify which genes are most commonly affected and the frequency of these genetic changes within this population. The registry will help advance understanding and healthcare for hereditary heart conditions in Brazils public health system. Participants will be interviewed during their routine medical visits, and their DNA will be collected using buccal swabs for whole genome sequencing. This observational study does not involve any treatment but focuses on gathering detailed genetic and clinical data to better characterize hereditary cardiovascular diseases. The study is planned to run for 30 months starting from April 2025. During the study, participants will provide information through interviews and give DNA samples for sequencing. Researchers will measure diagnostic yield, genetic diversity, and variant frequency over the 30 months. The study does not involve additional interventions beyond data and sample collection, and participants will continue their usual medical care throughout the study period.