A5024435218- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- ECG Monitoring and Analysis
- Receptor Mechanisms and Signaling
- Phonocardiography and Auscultation Techniques
- Glycosylation and Glycoproteins Research
- Viral Infections and Immunology Research
- Galectins and Cancer Biology
- Sphingolipid Metabolism and Signaling
- Eicosanoids and Hypertension Pharmacology
- Computational Drug Discovery Methods
- Neurofibromatosis and Schwannoma Cases
- Mitochondrial Function and Pathology
- Analog and Mixed-Signal Circuit Design
- Hippo pathway signaling and YAP/TAZ
- Lipid Membrane Structure and Behavior
- Heart Rate Variability and Autonomic Control
- Cardiovascular Effects of Exercise
- Cardiac Fibrosis and Remodeling
IRCCS Policlinico San Donato
2019-2022
University of Milan
2020
Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene date, genotype-phenotype relationship poorly understood and remains uncertain. This study aimed elucidate correlation BrS.Brugada probands deemed at high future arrhythmic events underwent genetic testing phenotype characterization by means epicardial...
The Brugada syndrome (BrS) is an inherited disease associated with increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because NaV1.8 protein expressed more both central and peripheral nervous systems than heart, SCN10A gene not included diagnostic arrhythmia/sudden death panels vast majority cardiogenetics centres.Clinical characteristics were assessed patients harboring either SCN5A or novel variants. Genetic testing was...
In this case series, we report for the first time a family in which inherited nonsense mutation [c. 3946C>T (p.Arg1316*)] SCN5A gene segregates association with Brugada syndrome (BrS). Moreover, also report, time, frameshift [c.7686delG (p.Ile2563fsX40)] NF1 gene, as well its Type 1 Neurofibromatosis (NF1), characterized by pigmentary lesions (café au lait spots, Lisch nodules, freckling) and cutaneous neurofibromas. Both of these mutations associated phenotypes were discovered same family....
Cardiac fibrosis is a key physiological response to cardiac tissue injury protect the heart from wall rupture. However, its progression increases stiffness, eventually causing decrease in contractility. Unfortunately, date, no efficient antifibrotic therapies are available clinic. This primarily due complexity of process, which involves several cell types and signaling pathways. For instance, transforming growth factor beta (TGF-β) pathway has been recognized be vital for myofibroblasts...
OPINION article Front. Cardiovasc. Med., 11 May 2021Sec. Cardiac Rhythmology https://doi.org/10.3389/fcvm.2021.688875
Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients the majority cases, due current lack understanding about effect specific variants. Additionally, family history sudden death generally arrhythmic risk stratification. We sought demonstrate usefulness genetic and diagnosis The was collected a proband who presented with personal aborted cardiac arrest whom novel variant SCN5A gene found. Living members underwent ajmaline testing,...
Brugada Syndrome (BrS) is an inherited arrhythmogenic disorder with increased risk of sudden cardiac death. Recent evidence suggests that BrS should be considered as oligogenic or polygenic condition. Mutations in genes associated are found about one-third patients and they mainly disrupt the sodium channel NaV1.5, which main cause disease. However, voltage-gated channel's activity could impacted by post-translational modifications such sialylation, but their role remains unknown. Thus, we...
Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main source(s): RICERCA CORRENTE, Italian Ministry Health Background Brugada syndrome (BrS) is a cardiac arrhythmia associated with an increased risk sudden death (SCD). BrS considered genetic disorder, and the most commonly mutated gene SCN5A, which encodes alpha subunit voltage-gated sodium channel (NaV1.5). Mutations SCN5A generally cause impairment NaV1.5 function, resulting in alteration...
Brugada syndrome (BrS) is a cardiac arrhythmia associated with higher risk of SCD. BrS considered genetic disorder, and the most commonly mutated gene SCN5A, encoding alpha subunit voltage-gated sodium channel (NaV1.5). Mutations SCN5A usually lead to impairment NaV1.5 functionality, which main mechanism disease. However, mutations are responsible for only 30% cases. Therefore, it conceivable that other mechanisms such as post-translational modifications (PTMs) affect activity. Among others,...