Present Status of Brugada Syndrome: JACC State-of-the-Art Review
J Brugada, O Campuzano, E Arbelo… - Journal of the American …, 2018 - jacc.org
The Brugada syndrome is an inherited disorder associated with risk of ventricular fibrillation
and sudden cardiac death in a structurally normal heart. Diagnosis is based on a …
and sudden cardiac death in a structurally normal heart. Diagnosis is based on a …
[HTML][HTML] Sudden cardiac death and arrhythmias
NT Srinivasan, RJ Schilling - Arrhythmia & electrophysiology …, 2018 - ncbi.nlm.nih.gov
Sudden cardiac death (SCD) and arrhythmia represent a major worldwide public health
problem, accounting for 15–20% of all deaths. Early resuscitation and defibrillation remains …
problem, accounting for 15–20% of all deaths. Early resuscitation and defibrillation remains …
Cardiac channelopathies and sudden death: recent clinical and genetic advances
A Fernández-Falgueras, G Sarquella-Brugada… - Biology, 2017 - mdpi.com
Sudden cardiac death poses a unique challenge to clinicians because it may be the only
symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden …
symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden …
[HTML][HTML] The economic burden of heart conditions in Brazil
B Stevens, L Pezzullo, L Verdian… - Arquivos brasileiros de …, 2018 - SciELO Brasil
Background: Heart conditions impose physical, social, financial and health-related quality of
life limitations on individuals in Brazil. Objectives: This study assessed the economic burden …
life limitations on individuals in Brazil. Objectives: This study assessed the economic burden …
Brugada syndrome: clinical and genetic findings
G Sarquella-Brugada, O Campuzano, E Arbelo… - Genetics in …, 2016 - nature.com
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and
sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada …
sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada …
Calcium channels in the heart: disease states and drugs
K Shah, S Seeley, C Schulz, J Fisher, S Gururaja Rao - Cells, 2022 - mdpi.com
Calcium ions are the major signaling ions in the cells. They regulate muscle contraction,
neurotransmitter secretion, cell growth and migration, and the activity of several proteins …
neurotransmitter secretion, cell growth and migration, and the activity of several proteins …
Next-generation sequencing gene panels in Inheritable cardiomyopathies and channelopathies: prevalence of pathogenic variants and variants of unknown …
C Mazzaccara, R Lombardi, B Mirra, F Barretta… - Biomolecules, 2022 - mdpi.com
The diffusion of next-generation sequencing (NGS)-based approaches allows for the
identification of pathogenic mutations of cardiomyopathies and channelopathies in more …
identification of pathogenic mutations of cardiomyopathies and channelopathies in more …
The role of mitochondrial DNA mutations in cardiovascular diseases
SA Dabravolski, VA Khotina, VN Sukhorukov… - International Journal of …, 2022 - mdpi.com
Cardiovascular diseases (CVD) are one of the leading causes of morbidity and mortality
worldwide. mtDNA (mitochondrial DNA) mutations are known to participate in the …
worldwide. mtDNA (mitochondrial DNA) mutations are known to participate in the …
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes
Technical advances in generating and phenotyping cardiomyocytes from human pluripotent
stem cells (hPSC-CMs) are now driving their wider acceptance as in vitro models to …
stem cells (hPSC-CMs) are now driving their wider acceptance as in vitro models to …
[HTML][HTML] Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
In many SCD cases, in particular in pediatric age, autopsy can be completely negative and
then a post-mortem genetic testing (molecular autopsy) is indicated. In NGS era finding …
then a post-mortem genetic testing (molecular autopsy) is indicated. In NGS era finding …