NCT06546137

National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 600 (estimated)
• Sponsor: Hospital do Coracao · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are: Which genes are most commonly affected? What is the frequency of these genetic alterations in our population? Participants will be interviewed in routine medical care visits and their DNA will be sequenced.

Conditions

• Cardiomyopathy, Hypertrophic
• Cardiomyopathy, Dilated
• Cardiomyopathy Restrictive
• Arrhythmogenic Right Ventricular Dysplasia
• Non-Compaction Cardiomyopathy
• Familial Hypercholesterolemia
• Marfan Syndrome
• Ehlers-Danlos Syndrome, Vascular Type
• Loeys-Dietz Syndrome
• Long QT Syndrome
• Short Qt Syndrome
• Brugada Syndrome
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Sudden Cardiac Death

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	whole genome sequencing	whole genome sequencing of genomic DNA extracted from buccal swab

Timeline

• Start date: 2025-04-30
• Primary completion: 2026-08-31
• Completion: 2026-08-31
• First posted: 2024-08-09
• Last updated: 2025-12-30

Locations

27 sites across 1 country: Brazil