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In-hospital mortality and risk factors in critically ill patients with hypertrophic cardiomyopathy.
J Cardiol
January 2025
Department of Cardiology, St. Luke's University Health Network, Bethlehem, PA, USA. Electronic address:
Background: Hypertrophic cardiomyopathy (HCM) is a common genetic disease with estimated prevalence of 0.2-0.5 %.
View Article and Find Full Text PDFBackground: Disopyramide is used to treat heart failure symptoms in patients with obstructive hypertrophic cardiomyopathy (HCM) with known medium-term efficacy and safety, while long-term outcomes are unknown.
Methods And Results: A total of 92 consecutive patients with symptomatic obstructive HCM with peak left ventricular outflow tract gradients of ≥30 mm Hg at rest or with provocation who were maintained on disopyramide for ≥5 years at 2 dedicated HCM centers were included: 92 patients; mean age, 62.5 years; 54% women; treated with disopyramide for median 7.
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Mol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
Medicare Coverage and Patient Out-of-Pocket Costs for Mavacamten.
Circ Cardiovasc Qual Outcomes
January 2025
Division of Cardiovascular Medicine, Department of Internal Medicine, Lahey Hospital and Medical Center, Burlington, MA (S.S.D.).
Etiology and Phenotypes of Cardiomyopathy in Southern Africa: The IMHOTEP Multicenter Pilot Study.
JACC Adv
December 2024
Department of Medicine, The Cardiac Clinic, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
Background: Cardiomyopathies are an important cause of heart failure in Africa yet there are limited data on etiology and clinical phenotypes.
Objectives: The IMHOTEP (African Cardiomyopathy and Myocarditis Registry Program) was designed to systematically collect data on individuals diagnosed with cardiomyopathy living in Africa.
Methods: In this multicenter pilot study, patients (age ≥13 years) were eligible for inclusion if they had a diagnosis of cardiomyopathy or myocarditis.
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