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NCT Number: NCT06546137

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

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.

Recruiting

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Key information

Conditions

Cardiomyopathy, Hypertrophic Abnormalities, Multiple Aneurysm Aortic Aneurysm Aortic Diseases Aortic Dissection Aortic Stenosis, Subvalvular Aortic Valve Disease Aortic Valve Stenosis Arrhythmias, Cardiac Arrhythmogenic Right Ventricular Dysplasia Bone Diseases Bone Diseases, Developmental Brugada Syndrome Cardiac Conduction System Disease Cardiomegaly Cardiomyopathies Cardiomyopathy Restrictive Cardiomyopathy, Dilated Cardiomyopathy, Restrictive Cardiovascular Abnormalities Cardiovascular Diseases Catecholaminergic Polymorphic Ventricular Tachycardia Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Craniofacial Abnormalities Death Death, Sudden Death, Sudden, Cardiac Dissection, Blood Vessel Dyslipidemias Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Type IV Ehlers-Danlos Syndrome, Vascular Type Familial Hypercholesterolemia Genetic Diseases, Inborn Heart Arrest Heart Defects, Congenital Heart Diseases Heart Valve Diseases Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Laminopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Loeys-Dietz Syndrome Long QT Syndrome Marfan Syndrome Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Abnormalities Musculoskeletal Diseases Non-Compaction Cardiomyopathy Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Polymorphic Catecholaminergic Ventricular Tachycardia Short Qt Syndrome Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Sudden Cardiac Death Tachycardia Tachycardia, Ventricular Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Centro de Pesquisa Silvestre Santé, Rio Branco, Acre, Brazil

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Whole genome sequencing

Diagnostic Test

whole genome sequencing of genomic DNA extracted from buccal swab

Primary outcomes

  1. Diagnostic yield

    Time frame: 30 months after study start date

    Percentage of participants with pathogenic or likely pathogenic variants

  2. Genetic diversity

    Time frame: 30 months after study start date

    Determine genes that cause hereditary cardiovascular diseases in Brazil

  3. Variant frequency

    Time frame: 30 months after study start date

    Determine the frequency of disease-causing and benign variants in the Brazilian population

Study contacts

Contact information is provided by the study sponsor or research team.

Adriana Bastos Carvalho, MD PhD

CONTACT

[email protected]

+552130372105

Sponsors and collaborators

Lead sponsor

Hospital do Coracao

Other

Collaborators

  • Instituto Nacional de Cardiologia de Laranjeiras
  • Universidade Federal do Rio de Janeiro

Registry information

Acronym: RENOMICA-Hcor

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Aug 9, 2024
Registry last updated
May 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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