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.
Study Type
OBSERVATIONAL
Enrollment
600
whole genome sequencing of genomic DNA extracted from buccal swab
Centro de Pesquisa Silvestre Santé
Rio Branco, Acre, Brazil
RECRUITINGCentro de Pesquisas Clínicas Dr. Marco Mota
Maceió, Alagoas, Brazil
RECRUITINGHospital Universitário da Unifap
Macapá, Amapá, Brazil
RECRUITINGHospital de Messejana Dr. Carlos Alberto Studart Gomes
Fortaleza, Ceará, Brazil
Diagnostic yield
Percentage of participants with pathogenic or likely pathogenic variants
Time frame: 30 months after study start date
Genetic diversity
Determine genes that cause hereditary cardiovascular diseases in Brazil
Time frame: 30 months after study start date
Variant frequency
Determine the frequency of disease-causing and benign variants in the Brazilian population
Time frame: 30 months after study start date
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Hospital Universitário Professor Edgard Santos
Salvador, Estado de Bahia, Brazil
RECRUITINGHospital Ana Nery - HAN/SESAB
Salvador, Estado de Bahia, Brazil
RECRUITINGInstituto de Cardiologia e Transplantes do Distrito Federal
Brasília, Federal District, Brazil
RECRUITINGHospital das Clínicas da Universidade Federal de Goiás - HC-UFG
Goiânia, Goiás, Brazil
RECRUITINGUniversidade Ceuma
São Luís, Maranhão, Brazil
RECRUITINGHospital Felicio Rocho - HFR
Belo Horizonte, Minas Gerais, Brazil
RECRUITING...and 17 more locations