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| Name | Class |
|---|---|
| Instituto Nacional de Cardiologia de Laranjeiras | OTHER |
| Universidade Federal do Rio de Janeiro | OTHER |
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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| whole genome sequencing | Diagnostic Test | whole genome sequencing of genomic DNA extracted from buccal swab |
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic yield | Percentage of participants with pathogenic or likely pathogenic variants | 30 months after study start date |
| Genetic diversity | Determine genes that cause hereditary cardiovascular diseases in Brazil | 30 months after study start date |
| Variant frequency | Determine the frequency of disease-causing and benign variants in the Brazilian population | 30 months after study start date |
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Inclusion Criteria:
Exclusion Criteria:
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Patients under routine medical care in hospitals and clinics located in Brazil with a clinical diagnosis of an hereditary cardiovascular disease.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Adriana Bastos Carvalho, MD PhD | Contact | +552130372105 | carvalhoab@biof.ufrj.br |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centro de Pesquisa Silvestre Santé | Recruiting | Rio Branco | Acre | 69915-030 | Brazil |
Genomic data are sensitve and will not be shared for individual participants
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Saliva or cheek swabs
| Centro de Pesquisas Clínicas Dr. Marco Mota | Recruiting | Maceió | Alagoas | 57051-160 | Brazil |
|
| Hospital Universitário da Unifap | Recruiting | Macapá | Amapá | 68903-419 | Brazil |
|
| Hospital de Messejana Dr. Carlos Alberto Studart Gomes | Recruiting | Fortaleza | Ceará | 60840-285 | Brazil |
|
| Hospital Evangélico de Vila Velha | Recruiting | Vila Velha | Espírito Santo | 29118-060 | Brazil |
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| Hospital Universitário Professor Edgard Santos | Recruiting | Salvador | Estado de Bahia | 40110-060 | Brazil |
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| Hospital Ana Nery - HAN/SESAB | Recruiting | Salvador | Estado de Bahia | 40320-010 | Brazil |
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| Instituto de Cardiologia e Transplantes do Distrito Federal | Recruiting | Brasília | Federal District | 70675-731 | Brazil |
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| Hospital das Clínicas da Universidade Federal de Goiás - HC-UFG | Recruiting | Goiânia | Goiás | 74605-050 | Brazil |
|
| Hospital Felicio Rocho - HFR | Recruiting | Belo Horizonte | Minas Gerais | 30110-934 | Brazil |
|
| Liga Mineira de Ressuscitação Cardiopulmonar | Recruiting | Belo Horizonte | Minas Gerais | 30130-110 | Brazil |
|
| Santa Casa de Misericórdia de Montes Claros | Recruiting | Montes Claros | Minas Gerais | 39401-001 | Brazil |
|
| Health & Care | Recruiting | Belém | Pará | 66093-055 | Brazil |
|
| Hospital Universitário Pedro Ernesto - UERJ | Recruiting | Rio de Janeiro | Rio de Janeiro | 20551-030 | Brazil |
|
| Instituto de Puericultura e Pediatria Martagão Gesteira | Recruiting | Rio de Janeiro | Rio de Janeiro | 21941-912 | Brazil |
|
| Hospital Universitário Clementino Fraga Filho - UFRJ | Recruiting | Rio de Janeiro | Rio de Janeiro | 21941-913 | Brazil |
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| Instituto Nacional de Cardiologia | Recruiting | Rio de Janeiro | Rio de Janeiro | 22240-006 | Brazil |
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| Hospital Universitário Onofre Lopes - UFRN | Recruiting | Natal | Rio Grande do Norte | 59012-300 | Brazil |
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| Hospital das Clínicas de Porto Alegre - UFRGS | Recruiting | Porto Alegre | Rio Grande do Sul | 90035-903 | Brazil |
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| Instituto de Cardiologia - Fundação Universitária de Cardiologia de Porto Alegre - IC-FUC | Recruiting | Porto Alegre | Rio Grande do Sul | 90040-370 | Brazil |
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| Instituto de Pesquisa e Ensino em Saúde - IPES | Recruiting | Porto Velho | Rondônia | 76801-098 | Brazil |
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| Centro Multidisciplinar de Ensino Especializado e Pesquisa Ltda | Recruiting | Joinville | Santa Catarina | 89204-250 | Brazil |
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| Hospital Universitário São Francisco na Providência de Deus, USF-SP | Recruiting | Bragança Paulista | São Paulo | 12916-542 | Brazil |
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| Instituto PENSI | Recruiting | Consolação | São Paulo | 01228-200 | Brazil |
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| Hospital Universitário da Universidade Federal de São Carlos | Recruiting | São Carlos | São Paulo | 13566-448 | Brazil |
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| Hospital do Coracao | Recruiting | São Paulo | São Paulo | 04004-030 | Brazil |
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| Universidade Federal do Tocantins | Recruiting | Palmas | Tocantins | 77001-090 | Brazil |
|
| ID | Term |
|---|---|
| D002312 | Cardiomyopathy, Hypertrophic |
| D002311 | Cardiomyopathy, Dilated |
| D002313 | Cardiomyopathy, Restrictive |
| D019571 | Arrhythmogenic Right Ventricular Dysplasia |
| D006938 | Hyperlipoproteinemia Type II |
| D008382 | Marfan Syndrome |
| D000094623 | Ehlers-Danlos Syndrome, Type IV |
| D055947 | Loeys-Dietz Syndrome |
| D008133 | Long QT Syndrome |
| C580439 | Short Qt Syndrome |
| D053840 | Brugada Syndrome |
| D000098850 | Polymorphic Catecholaminergic Ventricular Tachycardia |
| D016757 | Death, Sudden, Cardiac |
| ID | Term |
|---|---|
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D001020 | Aortic Stenosis, Subvalvular |
| D001024 | Aortic Valve Stenosis |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D006332 | Cardiomegaly |
| D000083083 | Laminopathies |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D000013 | Congenital Abnormalities |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D006951 | Hyperlipoproteinemias |
| D006949 | Hyperlipidemias |
| D050171 | Dyslipidemias |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D000015 | Abnormalities, Multiple |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D000784 | Aortic Dissection |
| D000094665 | Dissection, Blood Vessel |
| D000783 | Aneurysm |
| D014652 | Vascular Diseases |
| D004535 | Ehlers-Danlos Syndrome |
| D020141 | Hemostatic Disorders |
| D006474 | Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D003095 | Collagen Diseases |
| D012871 | Skin Diseases |
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D001014 | Aortic Aneurysm |
| D001018 | Aortic Diseases |
| D001145 | Arrhythmias, Cardiac |
| D000075224 | Cardiac Conduction System Disease |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D017180 | Tachycardia, Ventricular |
| D013610 | Tachycardia |
| D006323 | Heart Arrest |
| D003645 | Death, Sudden |
| D003643 | Death |
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