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

Recruiting

• 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

• Registration Number: NCT06546137
• Lead Sponsor: Hospital do Coracao

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-08-06
• Study First Submitted QC: 2024-08-06
• Study First Posted: 2024-08-09
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-30
• Study Start: 2025-05
• Last Update Posted: 2025-05-04
• Primary Completion: 2026-12
• Study Completion: 2026-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

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)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Diagnostic yield	30 months after study start date	Percentage of participants with pathogenic or likely pathogenic variants
Variant frequency	30 months after study start date	Determine the frequency of disease-causing and benign variants in the Brazilian population
Genetic diversity	30 months after study start date	Determine genes that cause hereditary cardiovascular diseases in Brazil

Trial Locations

Locations (23)

Centro de Pesquisa Silvestre Santé; 🇧🇷 Rio Branco, AC, Brazil

Centro de Pesquisas Clínicas Dr. Marco Mota; 🇧🇷 Maceió, Alagoas, Brazil

Hospital Ana Nery - HAN/SESAB; 🇧🇷 Salvador, BA, Brazil

Hospital de Messejana Dr. Carlos Alberto Studart Gomes; 🇧🇷 Fortaleza, CE, Brazil

Instituto de Cardiologia e Transplantes do Distrito Federal; 🇧🇷 Brasília, DF, Brazil

Hospital das Clínicas da Universidade Federal de Goiás - HC-UFG; 🇧🇷 Goiânia, GO, Brazil

Hospital Felicio Rocho - HFR; 🇧🇷 Belo Horizonte, MG, Brazil

Liga Mineira de Ressuscitação Cardiopulmonar; 🇧🇷 Belo Horizonte, MG, Brazil

Hospital Universitário Clemente de Faria - Unimontes; 🇧🇷 Montes Claros, MG, Brazil

Hospital Universitário Pedro Ernesto - UERJ; 🇧🇷 Rio de Janeiro, RJ, Brazil

Hospital Universitário Clementino Fraga Filho - UFRJ; 🇧🇷 Rio de Janeiro, RJ, Brazil

Hospital Universitário Onofre Lopes - UFRN; 🇧🇷 Natal, RN, Brazil

Instituto de Pesquisa e Ensino em Saúde - IPES; 🇧🇷 Porto Velho, RO, Brazil

Centro Oncológico de Roraima - CECOR; 🇧🇷 Boa Vista, RR, Brazil

Fundação de Integração, Desenvolvimento e Educação do Noroeste do Estado - FIDENE; 🇧🇷 Ijuí, RS, Brazil

Hospital das Clínicas de Porto Alegre - UFRGS; 🇧🇷 Porto Alegre, RS, Brazil

Instituto de Cardiologia - Fundação Universitária de Cardiologia de Porto Alegre - IC-FUC; 🇧🇷 Porto Alegre, RS, Brazil

Hospital Universitário Professor Polydoro Ernani de São Thiago - UFSC; 🇧🇷 Florianópolis, Santa Catarina, Brazil

Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda; 🇧🇷 Joinville, Santa Catarina, Brazil

Hospital Universitário da Universidade Federal de São Carlos; 🇧🇷 São Carlos, SP, Brazil

Hospital das Clínicas da Faculdade de Medicina da USP - Instituto da Criança; 🇧🇷 São Paulo, SP, Brazil

Universidade Federal do Tocantins; 🇧🇷 Palmas, TO, Brazil

Hospital do Coracao; 🇧🇷 São Paulo, SP, Brazil