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 …

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 …

Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice

AC Chai, M Cui, F Chemello, H Li, K Chen, W Tan… - Nature medicine, 2023 - nature.com
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 …

[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 …

[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 …

[PDF][PDF] The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

KA McGurk, X Zhang, P Theotokis, K Thomson… - The American Journal of …, 2023 - cell.com
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs)
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

CC Topriceanu, AC Pereira, JC Moon, G Captur… - Circulation, 2024 - Am Heart Assoc
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left
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

M Ušaj, L Moretto, A Månsson - International Journal of Molecular …, 2022 - mdpi.com
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 …

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 …

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 …