Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic heterogeneity. Moreover, most patients do not carry such variants. We report a genome-wide association study of 2,780 cases and 47,48...

Full description

Bibliographic Details
Main Authors:	Harper, AR, Goel, A, Grace, C, Thomson, KL, Petersen, SE, Xu, X, Waring, A, Ormondroyd, E, Kramer, CM, Ho, CY, Neubauer, S, HCMR Investigators, Tadros, R, Ware, JS, Bezzina, CR, Farrall, M, Watkins, H
Format:	Journal article
Language:	English
Published:	Springer Nature 2021

Similar Items

Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
by: Waring, A, et al.
Published: (2020)

A Re-evaluation of the South Asian MYBPC3Δ25 Intronic Deletion in Hypertrophic Cardiomyopathy
by: Harper, AR, et al.
Published: (2020)

Genome-wide analysis of left ventricular maximum wall thickness in the UK biobank cohort reveals a shared genetic background with hypertrophic cardiomyopathy
by: Aung, N, et al.
Published: (2023)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
by: Hudsmith, L, et al.
Published: (2006)

Impaired left ventricular energy metabolism in hypertrophic cardiomyopathy is not due to fibrosis.
by: Petersen, SE, et al.
Published: (2009)

Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM Registry
by: Neubauer, S, et al.
Published: (2019)

Correlates of myocardial fibrosis in hypertrophic cardiomyopathy
by: Kramer, CM, et al.
Published: (2018)

Progression of myocardial fibrosis in hypertrophic cardiomyopathy: mechanisms and clinical implications
by: Raman, B, et al.
Published: (2018)

Further refining risk in hypertrophic cardiomyopathy with late gadolinium enhancement by CMR
by: Kramer, C, et al.
Published: (2018)

Distinct ECG phenotypes identified in hypertrophic cardiomyopathy using machine learning associate with arrhythmic risk markers
by: Lyon, A, et al.
Published: (2018)

Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers
by: Aurore Lyon, et al.
Published: (2018-03-01)

Evidence for microvascular dysfunction in hypertrophic cardiomyopathy: New insights from multiparametric MRI
by: Petersen, S, et al.
Published: (2007)

Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study
by: Raman, B, et al.
Published: (2021)

Sudden death in hypertrophic cardiomyopathy.
by: Watkins, H
Published: (2000)

The genetic architecture of hypertrophic cardiomyopathy
by: Harper, AR
Published: (2020)

Myocardial dysfunction in hypertrophic cardiomyopathy.
by: Ashrafian, H, et al.
Published: (2001)

Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study
by: Betty Raman, et al.
Published: (2021-10-01)

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
by: Thomson, K, et al.
Published: (2018)

Is DNA testing for hypertrophic cardiomyopathy cost-effective?
by: Wordsworth, S, et al.
Published: (2006)

Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM registry
by: Neubauer, S, et al.
Published: (2019)

Left and right ventricular tissue velocities are reduced in hypertrophic cardiomyopathy but not in athlete's heart
by: Petersen, SE, et al.
Published: (2008)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
by: Ashrafian, H, et al.
Published: (2005)

Evaluation of Clinical Diagnostic Potential of Next Generation Sequencing using Hypertrophic Cardiomyopathy as a Model
by: Taylor, J, et al.
Published: (2010)

Evidence for microvascular dysfunction in hypertrophic cardiomyopathy: new insights from multiparametric magnetic resonance imaging.
by: Petersen, SE, et al.
Published: (2007)

Obesity-related ventricular remodelling is exacerbated in dilated and hypertrophic cardiomyopathy
by: Rayner, JJ, et al.
Published: (2020)

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
by: Walsh, R, et al.
Published: (2019)

The genetics of hypertrophic cardiomyopathy: Teare redux.
by: Watkins, H, et al.
Published: (2008)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
by: Wordsworth, S, et al.
Published: (2010)

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
by: Wordsworth, S, et al.
Published: (2010)

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
by: Watkins, H
Published: (2003)

Discrepancy between pathological progression and clinical stability in a young patient with hypertrophic cardiomyopathy
by: Raman, B, et al.
Published: (2018)

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
by: Walsh, R, et al.
Published: (2017)

Identification of myocardial disarray in patients with hypertrophic cardiomyopathy and ventricular arrhythmias
by: Ariga, R, et al.
Published: (2019)

Cardiac Steatosis Detected in Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and Aortic Stenosis
by: Suttie, J, et al.
Published: (2011)

Linked genetic modifiers in hypertrophic cardiomyopathy
by: Ektisham, J, et al.
Published: (2004)

Diffusion tensor magnetic resonance imaging of myocardial disarray in hypertrophic cardiomyopathy
by: Ariga, R, et al.
Published: (2018)

Assigning a causal role to genetic variants in hypertrophic cardiomyopathy.
by: Watkins, H
Published: (2013)

Hypertrophic cardiomyopathy: from molecular and genetic mechanisms to clinical management
by: Watkins, H
Published: (2001)

Non-invasive imaging of myocardial disarray associates with ventricular arrhythmia in hypertrophic cardiomyopathy
by: Ariga, R, et al.
Published: (2017)

ACUTE DERANGEMENT OF CARDIAC ENERGY METABOLISM AND OXYGENATION DURING STRESS IN HYPERTROPHIC CARDIOMYOPATHY-A POTENTIAL MECHANISM FOR SUDDEN CARDIAC DEATH
by: Dass, S, et al.
Published: (2012)