Results 81 to 90 of about 168,529 (313)

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat   +2 more
wiley   +1 more source

Higher Hospitalization Rate and Impaired Quality of Life in the Presence of Severe Tricuspid Regurgitation in Patients With Newly Diagnosed Atrial Fibrillation: Is the Risk Real?

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Sanghamitra Mohanty, Andrea Natale
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Continuous T-wave alternans monitoring to predict impending life-threatening cardiac arrhythmias during emergent coronary reperfusion therapy in patients with acute coronary syndrome [PDF]

open access: bronze, 2011
Nobuhiro Takasugi   +11 more
openalex   +1 more source

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

open access: yesAmerican 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   +10 more
wiley   +1 more source

Continuous electrocardiogram monitoring in porcine model of myocardial ischemia reperfusion

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Wearable technology for continuous electrocardiogram monitoring can be utilized in porcine models of disease. Abstract As cardiovascular disease is the leading cause of global mortality, innovative animal models are vital to demonstrating the translational value of experimental discoveries. Investigations focused on myocardial remodeling after ischemia
Nathaniel Hyams   +8 more
wiley   +1 more source

Cardiac resynchronization therapy in heart failure based on Strauss criteria for left bundle branch block

open access: yesESC Heart Failure
Aims The left bundle branch block (LBBB) is a strong predictor of response to cardiac resynchronization therapy (CRT). However, a significant number of patients do not respond to the treatment.
Athanasios Saplaouras   +17 more
doaj   +1 more source

Home - About - Disclaimer - Privacy