Results 71 to 80 of about 261,307 (299)

Gene Transfer of Engineered Calmodulin Alleviates Ventricular Arrhythmias in a Calsequestrin-Associated Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia [PDF]

, 2018
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic syndrome characterized by sudden death. There are several genetic forms of CPVT associated with mutations in genes encoding the cardiac ryanodine receptor (RyR2 ...
Belevych, Andriy E, Bonilla, Ingrid, Davis, Jonathan P, Gy\uf6rke, S\ue1ndor, Ho, Hsiang-Ting, Knollmann, Bjorn C, Liu, Bin, Priori, Silvia G, Radwa\u144ski, Przemys\u142aw B, Shettigar, Vikram, Tikunova, Svetlana B, Volpe, Pompeo, Walton, Shane D   +12 more
core   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Malignant ventricular arrhythmias induction by programmed electrical stimulation of the right ventricular outflow tract only during type 1 brugada ECG maximization [PDF]

, 2016
OBJECTIVE: The role of electrophysiology study in Brugada syndrome (BS) sudden cardiac death risk stratification remains controversial and seems to depend on the phenotypic expression of the channelopathy.
ALESSANDRI, Nicola, DE ANGELIS, STEFANO, DEI GIUDICI, ANGELA, NGUYEN, BICH LIEN, SERGIACOMI, ROBERTA, TERSIGNI, FLAVIA, TUFANO, Fabrizio, URCIUOLI, FEDERICA   +7 more
core  

SUDDEN UNEXPLAINED JUVENILE DEATH AND THE ROLE OF MEDICOLEGAL INVESTIGATION: UPDATE ON MOLECULAR AUTOPSY [PDF]

, 2012
In the past few years, contributions of molecular biology assays to the investigation of sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sud-den arrhythmic death, opening the way to preventive action on victims ...
ARGO, Antonina, AVERNA, Letizia, PROCACCIANTI, Paolo, SORTINO, Cettina, ZERBO, Stefania   +4 more
core   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Primary prevention of sudden cardiac death in adults with transposition of the great arteries: A review of implantable cardioverter-defibrillator placement [PDF]

, 2015
Transposition of the great arteries encompasses a set of structural congenital cardiac lesions that has in common ventriculoarterial discordance. Primarily because of advances in medical and surgical care, an increasing number of children born with this ...
Cedars, Ari M, Sodhi, Sandeep S
core   +3 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Sudden Cardiac Death As a Mystery of The Sports World - Current Insight Into Risk Factors, Diagnosis and Management of The Most Common Underlying Causes

Quality in Sport
Introduction and aim of the study: With the growing popularity of physical activity, sudden cardiac death has become a significant concern among both professional and recreational athletes.
Jakub Kędzia, Joanna Duda, Kinga Racisz, Paweł Racisz, Alicja Obcowska, Aleksandra Walendzik   +5 more
doaj   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Life-saving automated external defibrillation in a teenager: a case report [PDF]

, 2007
Background Adolescent sudden death during sport participation is commonly due to cardiac causes. Survival is more likely when an automated external defibrillator (AED) is used soon after collapse. Case presentation We describe a case of sudden death in a
Corsino Rey, Antonio Rodríguez-Nuñez, Alberto Medina, Juan Mayordomo, D Atkins, A Rodríguez-Núñez, BJ Maron, BJ Maron, B König, E Salib, RJ Myerburg, Physician and Sports Medicine, RM Campbell, F Marcus, W Haverkamp, JH Indik, MT Tome Esteban   +16 more
core   +2 more sources