Epidemiology of the inherited cardiomyopathies

WJ McKenna, DP Judge - Nature Reviews Cardiology, 2021 - nature.com
In the absence of contemporary, population-based epidemiological studies, estimates of the
incidence and prevalence of the inherited cardiomyopathies have been derived from …

Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association

AP Landstrom, JJ Kim, BD Gelb, BM Helm… - Circulation: Genomic …, 2021 - Am Heart Assoc
Genetic diseases that affect the cardiovascular system are relatively common and include
cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and …

International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the clinical genome resource framework

CA James, JDH Jongbloed… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited
disease characterized by ventricular arrhythmias and progressive ventricular dysfunction …

The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy

CA James, P Syrris, JP Van Tintelen… - European heart …, 2020 - academic.oup.com
Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by
frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden …

Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype

JM Bliley, MCSC Vermeer, RM Duffy, I Batalov… - Science Translational …, 2021 - science.org
The role that mechanical forces play in shaping the structure and function of the heart is
critical to understanding heart formation and the etiology of disease but is challenging to …

Frequency, penetrance, and variable expressivity of dilated cardiomyopathy–associated putative pathogenic gene variants in UK Biobank participants

RA Shah, B Asatryan, G Sharaf Dabbagh, N Aung… - Circulation, 2022 - Am Heart Assoc
Background: There is a paucity of data regarding the phenotype of dilated cardiomyopathy
(DCM) gene variants in the general population. We aimed to determine the frequency and …

Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population

M Bourfiss, M Van Vugt, AI Alasiri… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Pathogenic and likely pathogenic variants associated with arrhythmogenic
right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic …

Arrhythmogenic cardiomyopathy: pathogenesis, pro-arrhythmic remodelling, and novel approaches for risk stratification and therapy

SM van der Voorn, ASJM Te Riele… - Cardiovascular …, 2020 - academic.oup.com
Arrhythmogenic cardiomyopathy (ACM) is a life-threatening cardiac disease caused by
mutations in genes predominantly encoding for desmosomal proteins that lead to alterations …

Epidemiology of cardiomyopathies and incident heart failure in a population-based cohort study

JRW Brownrigg, V Leo, J Rose, E Low, S Richards… - Heart, 2022 - heart.bmj.com
Aims The population prevalence of cardiomyopathies and the natural history of symptomatic
heart failure (HF) and arrhythmia across cardiomyopathy phenotypes is poorly understood …

A RE-AIM framework analysis of DNA-based population screening: using implementation science to translate research into practice in a healthcare system

LK Jones, NT Strande, EM Calvo, J Chen… - Frontiers in …, 2022 - frontiersin.org
Introduction: DNA-based population screening has been proposed as a public health
solution to identify individuals at risk for serious health conditions who otherwise may not …