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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFAssociation of Epicardial Adipose Tissue and Ventricular Arrhythmias in Patients With Nonischemic Cardiomyopathy.
JACC Adv
December 2024
Department of Medicine (Cardiovascular Division), Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA.
Background: Risk stratification for sudden cardiac death (SCD) in patients with nonischemic cardiomyopathy (NICM) remains challenging.
Objectives: This study aimed to investigate the impact of epicardial adipose tissue (EAT) on SCD in NICM patients.
Methods: Our study cohort included 173 consecutive patients (age 53 ± 14 years, 73% men) scheduled for primary prevention implantable cardioverter-defibrillators (ICDs) implantation who underwent preimplant cardiovascular magnetic resonance.
Lifting the Burden of Sudden Cardiac Arrest Through International Collaboration: The PARQ Project (EU-COST Action).
JACC Adv
December 2024
Department of Clinical and Experimental Cardiology, Amsterdam University Medical Center, University of Amsterdam Amsterdam, the Netherlands.
Global Health Inequities in Electrophysiology Care: A State-of-the-Art Review.
JACC Adv
December 2024
Division of Cardiology, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
This state-of-the-art review examines disparities in the diagnosis, management, and outcomes of cardiac arrhythmias globally. These arrhythmias include atrial fibrillation, ventricular tachyarrhythmias underlying sudden cardiac death, and bradyarrhythmias associated with sinus node and atrioventricular node disease. Arrhythmias in low- and middle-income countries often result in higher mortality rates due to complex and poorly documented risk factors, lack of clinical expertise among health care personnel, lack of sufficient infrastructure, and challenges in access to care.
View Article and Find Full Text PDFBackground: The association between corrected QT (QTc) interval and life-threatening cardiac events in patients with hypertrophic cardiomyopathy (HCM) remains unclear. This study sought to investigate whether the prolonged QTc was associated with HCM-related death in patients with HCM.
Methods: We included 445 patients with HCM (mean age 51 ± 16 years, 67% men).
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