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

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

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Overview

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 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 details
    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

NCT06546137

Hospital do Coracao

13 May 2025

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FAQs

Learn more about clinical trials

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A clinical trial is a study designed to test specific interventions or treatments' effectiveness and safety, paving the way for new, innovative healthcare solutions.

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Participating in a clinical trial provides early access to potentially effective treatments and directly contributes to the healthcare advancements that benefit us all.

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The duration of clinical trials varies. Some trials last weeks, some years, depending on the phase and intention of the trial.

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Compensation varies per trial. Some offer payment or reimbursement for time and travel, while others may not.

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Clinical trials follow strict ethical guidelines and protocols to safeguard participants' health. They are closely monitored and safety reviewed regularly.
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