Palmas

Researchers are conducting an observational study to create a registry of Brazilian patients with hereditary cardiovascular diseases by combining clinical data with genomic information. The study aims to identify which genes are most commonly affected and determine the frequency of these genetic changes in the population. Participants have hereditary cardiovascular conditions such as various types of cardiomyopathy, familial hypercholesterolemia, Marfan syndrome, and other related syndromes. Participants undergo whole genome sequencing using DNA collected from a buccal swab to analyze their genetic makeup. This sequencing serves as a diagnostic test to explore genetic diversity and variant frequency related to their conditions. The genetic information is collected as part of routine medical care visits at multiple centers within Brazil's Unified Health System. During the study, participants will be interviewed and provide clinical information for the registry. Researchers will measure outcomes including diagnostic yield, genetic diversity, and variant frequency 30 months after the study start. Participants must consent to genetic counseling and provide informed consent. The study focuses on collecting detailed clinical and genomic data to better understand hereditary cardiovascular diseases in Brazil.