Publications by authors named "Flavio Mastrocinque"
Article Synopsis
- Patients with Brugada syndrome (BrS) face dangerous heart rhythm issues, and diagnosing it can be tricky due to atypical ECG patterns and the limited detectability of genetic markers like SCN5A variants.
- A study screened plasma from 50 BrS patients and found that 90% had anti-NaV1.5 autoantibodies, which were absent in 94% of control participants, indicating these autoantibodies could be a reliable diagnostic tool.
- The presence of these autoantibodies not only affects sodium current density but also induces Brugada-like ECG changes in experimental models, suggesting an autoimmune aspect to BrS that should be considered along with genetic factors.
Brugada Syndrome (BrS) is a genetic heart condition linked to sudden cardiac death. Though the gene is primarily associated with BrS, there is a lack of comprehensive studies exploring the connection between mutation locations and the clinical presentations of the syndrome. This study aimed to address this gap and gain further understanding of the syndrome.
View Article and Find Full Text PDFBrugada Syndrome (BrS) is a rare inherited cardiac arrhythmia causing potentially fatal ventricular tachycardia or fibrillation, mainly occurring during rest or sleep in young individuals without heart structural issues. It increases the risk of sudden cardiac death, and its characteristic feature is an abnormal ST segment elevation on the ECG. While BrS has diverse genetic origins, a subset of cases can be conducted to mutations in the gene, which encodes for the Nav1.
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