Results 81 to 90 of about 25,737 (250)

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Cardiology Research and Practice, 2022
Background. Brugada syndrome is a hereditary cardiac disease associated with mutations in ion channel genes. The clinical features include ventricular fibrillation, syncope, and sudden cardiac death.
Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen   +9 more
doaj   +1 more source

Atrial fibrillation and electrophysiology in transgenic mice with cardiac-restricted overexpression of FKBP12 [PDF]

, 2019
Cardiomyocyte-restricted overexpression of FK506-binding protein 12 transgenic (αMyHC-FKBP12) mice develop spontaneous atrial fibrillation (AF). The aim of the present study is to explore the mechanisms underlying the occurrence of AF in αMyHC-FKBP12 ...
Ai, Tomohiko, Chang, Po-Cheng, Chen, Hanying, Chen, Peng-Sheng, Fishbein, Michael C., Homsi, Mohamed, Li, Bai-Yan, Lin, Shien-Fong, Liu, Jijia, Liu, Ying, Maruyama, Mitsunori, Pan, Zhenwei, Rubart, Michael, Shou, Weinian, Xiao, Deyong   +14 more
core   +1 more source

Successful Isoproterenol Treatment for Ventricular Fibrillation Storm in Early Repolarization Syndrome With SCN5A Mutation

Annals of Noninvasive Electrocardiology, Volume 31, Issue 1, January 2026.
Suppression of VF storm in ERS with SCN5A mutation using isoproterenol. ABSTRACT A 58‐year‐old man experienced a ventricular fibrillation storm with prominent inferolateral J waves and was diagnosed with early repolarization syndrome. Initial coronary angiography showed no significant stenosis and the other evaluations for ventricular fibrillation were
Sung Soo Kim, Jeong Tae Byoun, Donghyeon Joo, Jum Suk Ko, Nam Ho Kim, Hyung Ki Jeong   +5 more
wiley   +1 more source

Treatment of Anxiety and Depression in a Patient with Brugada Syndrome

Case Reports in Psychiatry, 2014
Background. Brugada syndrome is rare and has been a clinically diagnosable entity since 1992. Its clinical manifestations are highly variable, and while some patients remain asymptomatic, others endure sudden cardiac death.
Jasper J. Chen, Rajbir S. Sangha
doaj   +1 more source

Diagnosi molecolare di sindrome di Brugada in un giovane atleta mediante il sequenziamento di un pannello multigenico con tecniche di nuova generazione [PDF]

, 2018
Mutations in genes driving the molecular pathways that regulate myocardial functions can predispose to many independent cardiopathies and also to sudden cardiac death (SCD) even in asymptomatic subjects. The overlapping clinical signs or symptoms or even
Buono, Pasqualina, De Simone, Antonio, D’Argenio, Valeria, Esposito, Maria V., Frisso, Giulia, Nunziato, Marcella, Salvatore, Francesco   +6 more
core   +1 more source

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Brady, Pamela Arn   +3 more
wiley   +1 more source

Brugada syndrome in childhood: a potential fatal arrhythmia not always recognised by paediatricians. A case report and review of the literature [PDF]

, 2018
We report on a youngster followed by his paediatrician from birth until 14years of age for premature beats, most likely of ventricular origin. The sudden death of his sister provoked a re-assessment of his electrocardiograms (ECG), resulting in the ...
Di Bernardo, Stefano, Meijboom, Erik, Mivelaz, Yvan, Pruvot, Etienne, Sekarski, Nicole   +4 more
core  

Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart [PDF]

, 2014
The α subunit of the cardiac voltage-gated sodium channel, Naᵥ1.5, provides the rapid sodium inward current that initiates cardiomyocyte action potentials.
Batlle, Montserrat, Beltran-Alvarez, Pedro, Brugada, Ramon, Chiva, Cristina, Chiva, Critina, Pagans, Sara, Perez-Serra, Alexandra, Perez-Villa, Felix, Pérez-Serra, Alexandra, Pérez-Villa, Félix, Sabido, Eduard, Sabidó, Eduard, Schulte, Uwe, Tarradas, Anna   +13 more
core   +1 more source

Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death

International Journal of Genomics, Volume 2026, Issue 1, 2026.
Cellular action potential is characterized by a particular sequence of depolarizing and repolarizing ion currents regulated by ion channels. Genetic mutations in these channels disrupt the essential movement of ions, such as Na+, Ca++, and K+, across the cell membrane, leading to dangerous arrhythmias and sudden cardiac death (SCD).
Mahsa Tahmasebivand, Sepideh Mehvari, Fatemeh Ghodratpour, Hamidreza Khoram Khorshid, Reza Malekzadeh, Reza Najafipour, Yasser Riazalhosseini, Mark Lathrop, Hossein Najmabadi, Kimia Kahrizi, Neetu Rawal   +10 more
wiley   +1 more source

Suspected Brugada Phenocopy Secondary to Coronary Slow Flow

Case Reports in Cardiology, 2019
Brugada syndrome (BrS) is a genetic condition that accentuates the risk of potentially lethal ventricular arrhythmias and sudden cardiac death (SCD) in a structurally normal heart. The Brugada electrocardiographic pattern may manifest separately from the
Alicia Shim, Rajeev Seecheran, Valmiki Seecheran, Sangeeta Persad, Shiva Sreenivasan, Ronald Henry, Naveen Anand Seecheran   +6 more
doaj   +1 more source