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

Hospital do Coracao

Status: Enrolling

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

Treatments: Diagnostic Test: whole genome sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT06546137

RENOMICA-Hcor

Details and patient eligibility

About

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.

Enrollment: 600 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Clinical diagnosis of a hereditary cardiovascular disease according to current clinical guidelines
• Agree to receive genetic counseling
• Sign informed consent form
• Provide the information required in the case report form

Exclusion criteria

• Signature absent from informed consent form
• Inadequate buccal swab (sample may be collected twice)