2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of …
E Arbelo, A Protonotarios, JR Gimeno… - European heart …, 2023 - academic.oup.com
• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …
off-label use of medication should be limited to situations where it is in the patient's interest …
Arrhythmias as presentation of genetic cardiomyopathy
J Lukas Laws, MC Lancaster… - Circulation …, 2022 - Am Heart Assoc
There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …
Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice
The most common form of genetic heart disease is hypertrophic cardiomyopathy (HCM),
which is caused by variants in cardiac sarcomeric genes and leads to abnormal heart …
which is caused by variants in cardiac sarcomeric genes and leads to abnormal heart …
[HTML][HTML] Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling
S Vučković, R Dinani, EE Nollet, DWD Kuster… - Stem cell research & …, 2022 - Springer
Background Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) have
emerged as a powerful tool for disease modeling, though their immature nature currently …
emerged as a powerful tool for disease modeling, though their immature nature currently …
[HTML][HTML] Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics
LK Keyt, JM Duran, QM Bui, C Chen… - Frontiers in …, 2022 - frontiersin.org
Cardiac contraction occurs due to the cyclical interaction between sarcomeric thin and thick
filament proteins within the cardiomyocyte. The thin filament consists of the proteins actin …
filament proteins within the cardiomyocyte. The thin filament consists of the proteins actin …
[PDF][PDF] The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs)
is of paramount importance with the growing availability of genetic testing. We estimated …
is of paramount importance with the growing availability of genetic testing. We estimated …
Meta-analysis of penetrance and systematic review on transition to disease in genetic hypertrophic cardiomyopathy
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left
ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants …
ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants …
[HTML][HTML] Critical evaluation of current hypotheses for the pathogenesis of hypertrophic cardiomyopathy
Hereditary hypertrophic cardiomyopathy (HCM), due to mutations in sarcomere proteins,
occurs in more than 1/500 individuals and is the leading cause of sudden cardiac death in …
occurs in more than 1/500 individuals and is the leading cause of sudden cardiac death in …
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy
L Curran, A de Marvao, P Inglese… - Circulation: Genomic …, 2023 - Am Heart Assoc
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden
cardiac death associated with heterogeneous phenotypes, but there is no systematic …
cardiac death associated with heterogeneous phenotypes, but there is no systematic …
Genetic testing yield and clinical characteristics of hypertrophic cardiomyopathy in understudied ethnic groups: insights from a New Zealand National Registry
NJ Earle, A Winbo, J Crawford, M Wheeler… - Circulation: Heart …, 2024 - Am Heart Assoc
BACKGROUND: Aotearoa/New Zealand has a multiethnic population. Patients with
hypertrophic cardiomyopathy (HCM) are enrolled in the national Cardiac Inherited Diseases …
hypertrophic cardiomyopathy (HCM) are enrolled in the national Cardiac Inherited Diseases …