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RecruitingNCT06546137

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

Sponsor

Hospital do Coracao

Enrollment

1,211 participants

Start Date

Apr 30, 2025

Study Type

OBSERVATIONAL

Conditions

Sudden Cardiac DeathArrhythmogenic Right Ventricular DysplasiaCardiomyopathy, DilatedCardiomyopathy, HypertrophicLong QT SyndromeBrugada SyndromeCatecholaminergic Polymorphic Ventricular TachycardiaFamilial HypercholesterolemiaMarfan SyndromeLoeys-Dietz SyndromeCardiomyopathy RestrictiveNon-Compaction CardiomyopathyEhlers-Danlos Syndrome, Vascular TypeShort Qt Syndrome

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.

Eligibility

Inclusion Criteria4

  • 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 Criteria2

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

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Interventions

DIAGNOSTIC_TESTwhole genome sequencing

whole genome sequencing of genomic DNA extracted from buccal swab

Locations(27)

Centro de Pesquisa Silvestre Santé

Rio Branco, Acre, Brazil

Centro de Pesquisas Clínicas Dr. Marco Mota

Maceió, Alagoas, Brazil

Hospital Universitário da Unifap

Macapá, Amapá, Brazil

Hospital de Messejana Dr. Carlos Alberto Studart Gomes

Fortaleza, Ceará, Brazil

Hospital Evangélico de Vila Velha

Vila Velha, Espírito Santo, Brazil

Hospital Universitário Professor Edgard Santos

Salvador, Estado de Bahia, Brazil

Hospital Ana Nery - HAN/SESAB

Salvador, Estado de Bahia, Brazil

Instituto de Cardiologia e Transplantes do Distrito Federal

Brasília, Federal District, Brazil

Hospital das Clínicas da Universidade Federal de Goiás - HC-UFG

Goiânia, Goiás, Brazil

Hospital Felicio Rocho - HFR

Belo Horizonte, Minas Gerais, Brazil

Liga Mineira de Ressuscitação Cardiopulmonar

Belo Horizonte, Minas Gerais, Brazil

Santa Casa de Misericórdia de Montes Claros

Montes Claros, Minas Gerais, Brazil

Health & Care

Belém, Pará, Brazil

Hospital Universitário Pedro Ernesto - UERJ

Rio de Janeiro, Rio de Janeiro, Brazil

Instituto de Puericultura e Pediatria Martagão Gesteira

Rio de Janeiro, Rio de Janeiro, Brazil

Hospital Universitário Clementino Fraga Filho - UFRJ

Rio de Janeiro, Rio de Janeiro, Brazil

Instituto Nacional de Cardiologia

Rio de Janeiro, Rio de Janeiro, Brazil

Hospital Universitário Onofre Lopes - UFRN

Natal, Rio Grande do Norte, Brazil

Hospital das Clínicas de Porto Alegre - UFRGS

Porto Alegre, Rio Grande do Sul, Brazil

Instituto de Cardiologia - Fundação Universitária de Cardiologia de Porto Alegre - IC-FUC

Porto Alegre, Rio Grande do Sul, Brazil

Instituto de Pesquisa e Ensino em Saúde - IPES

Porto Velho, Rondônia, Brazil

Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda

Joinville, Santa Catarina, Brazil

Hospital Universitário São Francisco na Providência de Deus, USF-SP

Bragança Paulista, São Paulo, Brazil

Instituto PENSI

Consolação, São Paulo, Brazil

Hospital Universitário da Universidade Federal de São Carlos

São Carlos, São Paulo, Brazil

Hospital do Coracao

São Paulo, São Paulo, Brazil

Universidade Federal do Tocantins

Palmas, Tocantins, Brazil

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