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| ID | Type | Description | Link |
|---|---|---|---|
| PE00000015 | Other Grant/Funding Number | National Recovery and Resilience Plan (NRRP) |
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The goal of this observational study is to evaluate if there are differences in DNA methylation of peripheral blood in patients with Brugada syndrome and healthy subjects. The main question it aims to answer is:
Does DNA methylation changes distinguish Brugada patients from healthy controls?
Does DNA methylation changes distinguish Brugada patients with high versus low risk of sudden cardiac death?
The Investigators will enroll 10 patients with Brugada syndrome and 10 age and sex matched healthy controls. We will collect 5 mL of peripheral blood and will analyze genome-wide DNA methylation via EPIC array platform. Bioinformatic algorithms and network analysis will be applied to identify possible diagnostic and predictive biomarkers.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Healthy subjects | The control group consisted of unrelated age- and sex-matched healthy subjects as volunteer blood donors with no evidence of any ECG abnormalities, inherited arrhythmia, genetic cardiomyopathy, and no history of ventricular arrhythmia, unexplained syncope, unexplained sudden cardiac arrest/ death. | ||
| Brugada patients | Brugada syndrome was confirmed when the 12-lead ECG showed ST-segment elevation with a type-1 morphology of ≥2 mm in ≥1 right precordial lead either spontaneously or after a provocative drug test (intravenous administration of a Class I antiarrhythmic) in the absence of any structural heart disease. |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of differentially methylated genes as assessed by EPIC microarray | We will compare the methylation profiles of patients and controls in order to obtain a panel of differentially methylated genes. | 3 months |
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic performance of differentially methylated regions predicting the risk of sudden cardiac death | We will perform a subgroup analysis of Brugada patients (high vs. low risk of sudden cardiac death). ROC curve analysis will be performed to identify which differentially methylated genese may be useful to predict the risk of sudden cardiac death. | 6 months |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with Brugada syndrome attended the Cardiology Dept. at University of Campania "L. Vanvitelli", Monaldi Hospital (Naples, Italy). The control group consisted of unrelated age- and sex-matched healthy subjects as volunteer blood donors attending the U.O.C. Divisione di Immunologia Clinica, Immunoematologia, Medicina Trasfusionale at University of Campania "L. Vanvitelli" (Naples, Italy).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Giuditta Benincasa, PhD | Contact | 0815667916 | giuditta.benincasa@unicampania.it |
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| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39725721 | Background | Benincasa G, Pepin ME, Russo V, Cacciatore F, D'Alto M, Argiento P, Romeo E, Chiappetti R, Laezza N, Wende AR, Schiattarella GG, Coscioni E, La Montagna A, Amarelli C, Maiello C, Golino P, Condorelli G, Napoli C. High-resolution DNA methylation changes reveal biomarkers of heart failure with preserved ejection fraction versus reduced ejection fraction. Basic Res Cardiol. 2025 Apr;120(2):347-361. doi: 10.1007/s00395-024-01093-7. Epub 2024 Dec 27. |
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| ID | Term |
|---|---|
| D053840 | Brugada Syndrome |
| D016757 | Death, Sudden, Cardiac |
| ID | Term |
|---|---|
| D001145 | Arrhythmias, Cardiac |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D000075224 | Cardiac Conduction System Disease |
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Peripheral blood
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006323 | Heart Arrest |
| D003645 | Death, Sudden |
| D003643 | Death |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |