Cargando…

Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations

BACKGROUND: Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament–associated disease is unresolved...

Descripción completa

Detalles Bibliográficos
Autores principales:	Coppini, Raffaele, Ho, Carolyn Y., Ashley, Euan, Day, Sharlene, Ferrantini, Cecilia, Girolami, Francesca, Tomberli, Benedetta, Bardi, Sara, Torricelli, Francesca, Cecchi, Franco, Mugelli, Alessandro, Poggesi, Corrado, Tardiff, Jil, Olivotto, Iacopo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier Biomedical 2014
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270453/ https://www.ncbi.nlm.nih.gov/pubmed/25524337 http://dx.doi.org/10.1016/j.jacc.2014.09.059

Ejemplares similares

Genotype-Driven Pathogenesis of Atrial Fibrillation in Hypertrophic Cardiomyopathy: The Case of Different TNNT2 Mutations
por: Pioner, Josè Manuel, et al.
Publicado: (2022)

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
por: Mazzarotto, Francesco, et al.
Publicado: (2018)

Altered Ca(2+) and Na(+) Homeostasis in Human Hypertrophic Cardiomyopathy: Implications for Arrhythmogenesis
por: Coppini, Raffaele, et al.
Publicado: (2018)

Hypertrophic cardiomyopathy: The need for randomized trials
por: Olivotto, Iacopo, et al.
Publicado: (2013)

Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models
por: Ferrantini, Cecilia, et al.
Publicado: (2017)

Regulation of intracellular Na(+) in health and disease: pathophysiological mechanisms and implications for treatment
por: Coppini, Raffaele, et al.
Publicado: (2013)

Late sodium current inhibitors to treat exercise‐induced obstruction in hypertrophic cardiomyopathy: an in vitro study in human myocardium
por: Ferrantini, Cecilia, et al.
Publicado: (2018)

T-tubule remodeling in human hypertrophic cardiomyopathy
por: Vitale, Giulia, et al.
Publicado: (2020)

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
por: Mazzarotto, Francesco, et al.
Publicado: (2020)

Electrophysiological and Contractile Effects of Disopyramide in Patients With Obstructive Hypertrophic Cardiomyopathy: A Translational Study
por: Coppini, Raffaele, et al.
Publicado: (2019)

Clinical and molecular classification of cardiomyopathies
por: Cecchi, Franco, et al.
Publicado: (2012)

Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families
por: De Gregorio, Maria Grazia, et al.
Publicado: (2020)

Real-World Use and Predictors of Response to Disopyramide in Patients with Obstructive Hypertrophic Cardiomyopathy
por: Maurizi, Niccolò, et al.
Publicado: (2023)

Paradoxical prolongation of QT interval during exercise in patients with hypertrophic cardiomyopathy: cellular mechanisms and implications for diastolic function
por: Coppini, Raffaele, et al.
Publicado: (2022)

Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy
por: Pioner, Josè Manuel, et al.
Publicado: (2020)

Pharmacological Management of Hypertrophic Cardiomyopathy: From Bench to Bedside
por: Palandri, Chiara, et al.
Publicado: (2022)

Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?
por: Jaafar, Nawel, et al.
Publicado: (2015)

Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions
por: Girolami, Francesca, et al.
Publicado: (2023)

Sex‐Related Differences in Genetic Cardiomyopathies
por: Argirò, Alessia, et al.
Publicado: (2022)

Myosin modulators: emerging approaches for the treatment of cardiomyopathies and heart failure
por: Day, Sharlene M., et al.
Publicado: (2022)

Microvascular Dysfunction in Hypertrophic Cardiomyopathy
por: Pelliccia, Francesco, et al.
Publicado: (2022)

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
por: Ho, Carolyn Y., et al.
Publicado: (2018)

INHERIT (INHibition of the renin angiotensin system in hypertrophic cardiomyopathy and the Effect on hypertrophy—a Randomised Intervention Trial with losartan)
por: Olivotto, Iacopo, et al.
Publicado: (2015)

Diagnostic and prognostic electrocardiographic features in patients with hypertrophic cardiomyopathy
por: Bernardini, Andrea, et al.
Publicado: (2023)

T-Tubular Electrical Defects Contribute to Blunted β-Adrenergic Response in Heart Failure
por: Crocini, Claudia, et al.
Publicado: (2016)

Mavacamten has a differential impact on force generation in myofibrils from rabbit psoas and human cardiac muscle
por: Scellini, Beatrice, et al.
Publicado: (2021)

Novel insights on the relationship between T-tubular defects and contractile dysfunction in a mouse model of hypertrophic cardiomyopathy
por: Crocini, C., et al.
Publicado: (2016)

Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM
por: Pioner, Josè Manuel, et al.
Publicado: (2023)

Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry
por: Canepa, Marco, et al.
Publicado: (2020)

Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications
por: Girolami, Francesca, et al.
Publicado: (2018)

R4496C RyR2 mutation impairs atrial and ventricular contractility
por: Ferrantini, Cecilia, et al.
Publicado: (2016)

Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament
por: Mason, Allison B., et al.
Publicado: (2021)

Optogenetics design of mechanistically-based stimulation patterns for cardiac defibrillation
por: Crocini, Claudia, et al.
Publicado: (2016)

Mitochondrial Energetics and Ca(2+)-Activated ATPase in Obstructive Hypertrophic Cardiomyopathy
por: Lombardi, Maria, et al.
Publicado: (2020)

Stage-specific therapy for hypertrophic cardiomyopathy
por: Argirò, Alessia, et al.
Publicado: (2023)

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics
por: Keyt, Lucas K., et al.
Publicado: (2022)

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy
por: Marston, Nicholas A, et al.
Publicado: (2021)

A Novel Method of Isolating Myofibrils From Primary Cardiomyocyte Culture Suitable for Myofibril Mechanical Study
por: Woulfe, Kathleen C., et al.
Publicado: (2019)

Inflammation across the spectrum of hypertrophic cardiac phenotypes
por: Lillo, Rosa, et al.
Publicado: (2023)

Impact of Demographic Features, Lifestyle, and Comorbidities on the Clinical Expression of Hypertrophic Cardiomyopathy
por: Finocchiaro, Gherardo, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_mab9o18ghqju5jq910rqnrq68m