Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy

AJ Marian, E Braunwald - Circulation research, 2017 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

R Walsh, JA Offerhaus, R Tadros… - Nature Reviews …, 2022 - nature.com
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …

Evaluating the clinical validity of hypertrophic cardiomyopathy genes

J Ingles, J Goldstein, C Thaxton… - Circulation: Genomic …, 2019 - Am Heart Assoc
Background: Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a
significant opportunity to improve care. Recent trends to increase gene panel sizes often …

Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

MG Levin, NL Tsao, P Singhal, C Liu, HMT Vy… - Nature …, 2022 - nature.com
Heart failure is a leading cause of cardiovascular morbidity and mortality. However, the
contribution of common genetic variation to heart failure risk has not been fully elucidated …

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

LR Lopes, S Garcia-Hernández… - European heart …, 2021 - academic.oup.com
Aims The aim of this study was to determine the frequency of heterozygous truncating
ALPK3 variants (ALPK3 tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm …

Regulated cell death pathways in cardiomyopathy

S Sheng, J Li, X Hu, Y Wang - Acta Pharmacologica Sinica, 2023 - nature.com
Heart disease is a worldwide health menace. Both intractable primary and secondary
cardiomyopathies contribute to malignant cardiac dysfunction and mortality. One of the key …

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

U Esslinger, S Garnier, A Korniat, C Proust… - PloS one, 2017 - journals.plos.org
Aims Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong
familial component. We performed an exome-wide array-based association study (EWAS) to …

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 …

Contemporary insights into the genetics of hypertrophic cardiomyopathy: toward a new era in clinical testing?

F Mazzarotto, I Olivotto, B Boschi… - Journal of the …, 2020 - Am Heart Assoc
Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique,
supported by 30 years of research into its genetic etiology. Although pathogenic variants are …

A comparison of whole genome sequencing to multigene panel testing in hypertrophic cardiomyopathy patients

AL Cirino, NK Lakdawala, B McDonough… - Circulation …, 2017 - Am Heart Assoc
Background—As DNA sequencing costs decline, genetic testing options have expanded.
Whole exome sequencing and whole genome sequencing (WGS) are entering clinical use …