Arrhythmogenic Right Ventricular Dysplasia, Brugada Syndrome, Cardiomyopathy, Dilated, Cardiomyopathy, Hypertrophic, Cardiomyopathy Restrictive, Catecholaminergic Polymorphic Ventricular Tachycardia, Ehlers-Danlos Syndrome, Vascular Type, Familial Hypercholesterolemia, Loeys-Dietz Syndrome, Long QT Syndrome, Marfan Syndrome, Non-Compaction Cardiomyopathy, Short Qt Syndrome, Sudden Cardiac Death
Conditions
Keywords
hereditary cardiovascular diseases, whole genome sequencing
Brief 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.
Interventions
DIAGNOSTIC_TESTwhole genome sequencing
whole genome sequencing of genomic DNA extracted from buccal swab
Sponsors
Hospital do Coracao
Instituto Nacional de Cardiologia de Laranjeiras
Universidade Federal do Rio de Janeiro
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnostic yield | 30 months after study start date | Percentage of participants with pathogenic or likely pathogenic variants |
| Genetic diversity | 30 months after study start date | Determine genes that cause hereditary cardiovascular diseases in Brazil |
| Variant frequency | 30 months after study start date | Determine the frequency of disease-causing and benign variants in the Brazilian population |
Countries
Brazil
Contacts
CONTACTAdriana Bastos Carvalho, MD PhD
Outcome results
None listed