Results 41 to 50 of about 17,670 (140)

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  

Mutations and SNPs of human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese patients with Brugada syndrome [PDF]

, 2007
Background: Brugada syndrome is an inherited arrhythmogenic disease characterized by right bundle branch block pattern and ST segment elevation, leading to the change of V1 to V3 on electrocardiogram, and an increased risk of sudden cardiac death ...
Ackerman MJ, Splawski I, Makielski, Aydin A, Bahring S, Dahm S, Guenthe, Bezzina C, Veldkamp MW, van Den Ber, Brugada P and Brugada J, Chen JZ, Xie XD, Wang XX, Tao M, Sh, Furuhashi M, Uno K, Tsuchihashi K,, Huang H, Zhao J, Barrane FZ, Champa, Splawski I, Shen J, Timothy KW, Leh, Wattanasirichaigoon D, Vesely MR, D   +8 more
core   +1 more source

Acquired Genotype‐Positive Long QT Syndrome After Pediatric Heart Transplantation

Pediatric Transplantation, Volume 29, Issue 3, May 2025.
ABSTRACT Background Congenital long QT syndrome (LQTS) is rare but significant, as it carries a risk for ventricular arrhythmias and sudden cardiac death. Its diagnosis can be made clinically by serial ECGs, ambulatory ECG monitoring, and exercise stress testing; however, genetic testing is confirmatory in the majority of cases.
Nicholas V. Barresi, Jessica Sebastian, Gaurav Arora, Brian Feingold   +3 more
wiley   +1 more source

Intermittent Brugada syndrome in an anorexic adolescent girl [PDF]

, 2014
We report an anorexic adolescent girl with an intermittent Brugada syndrome. A 14-year-old anorexic girl with a body mass index (BMI) of 13.15kg/m2 was admitted in the acute state of the disease with an ST elevation in V1 and V2, suggestive of Brugada ...
Docx, Martine K.F., Gewillig, Marc, Loeys, Bart, Mertens, Luc, Proost, Dorien, Simons, Annik, Van Laer, Lut   +6 more
core   +1 more source

Mitral Annulus Disjunction Causing Ventricular Tachyarrhythmias in a Young Lady With Palpitations, Cardiac Ablation Terminated the Complaints

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT Mitral annulus disjunction (MAD) is a rare but significant cause of ventricular arrhythmias in young patients. Timely diagnosis using cardiac magnetic resonance imaging and targeted management with catheter ablation can effectively control arrhythmias, improve patient outcomes, and prevent severe complications such as sudden cardiac death.
Mohammad Hosein Nikoo, Reza Heydarzadeh, Alisina Mirzaei, Reza Golchin Vafa   +3 more
wiley   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision‐making, validated measures to assess these ...
Susan Christian, Tara Dzwiniel, Amy Baker, Barbara Biesecker, Kennedy Borle, Roya Mostafavi, Jill Slamon, Hannah Wand, Laura Yeates   +8 more
wiley   +1 more source

Citation Analysis with Medical Subject Headings (MeSH) using the Web of Knowledge: A new routine [PDF]

arXiv, 2012
Citation analysis of documents retrieved from the Medline database (at the Web of Knowledge) has been possible only on a case-by-case basis. A technique is here developed for citation analysis in batch mode using both Medical Subject Headings (MeSH) at the Web of Knowledge and the Science Citation Index at the Web of Science.
arxiv  

Electrical Storms in Brugada Syndrome: Review of Pharmacologic and Ablative Therapeutic Options [PDF]

, 2005
Electrical storm occurring in a patient with the Brugada syndrome is an exceptional but malignant and potentially lethal event. Efficient therapeutic solutions should be known and urgently applied because of the inability of usual antiarrhythmic means in
Haïssaguerre, M, Hocini, M, Maury, P
core   +2 more sources

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source