[HTML][HTML] Overview of the muscle cytoskeleton

CA Henderson, CG Gomez, SM Novak… - Comprehensive …, 2017 - ncbi.nlm.nih.gov
Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Arrhythmogenic right ventricular cardiomyopathy

C Basso, D Corrado, FI Marcus, A Nava, G Thiene - The Lancet, 2009 - thelancet.com
Arrhythmogenic right ventricular cardiomyopathy is a rare inherited heart-muscle disease
that is a cause of sudden death in young people and athletes. Causative mutations in genes …

Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members

JA Groeneweg, A Bhonsale, CA James… - Circulation …, 2015 - Am Heart Assoc
Background—Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a
progressive cardiomyopathy. We aimed to define long-term outcome in a transatlantic cohort …

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership …

MJ Ackerman, SG Priori, S Willems, C Berul… - Europace, 2011 - academic.oup.com
1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

M Cerrone, X Lin, M Zhang, E Agullo-Pascual… - Circulation, 2014 - Am Heart Assoc
Background—Brugada syndrome (BrS) primarily associates with the loss of sodium channel
function. Previous studies showed features consistent with sodium current (I Na) deficit in …

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial …

P Charron, M Arad, E Arbustini, C Basso… - European heart …, 2010 - academic.oup.com
Advances in molecular genetics present new opportunities and challenges for cardiologists
who manage patients and families with cardiomyopathies. The aims of this position …

Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease …

S Sen-Chowdhry, P Syrris, D Ward, A Asimaki… - Circulation, 2007 - Am Heart Assoc
Background—According to clinical-pathological correlation studies, the natural history of
arrhythmogenic right ventricular dysplasia/cardiomyopathy is purported to progress from …

Cardiac mechano-gated ion channels and arrhythmias

R Peyronnet, JM Nerbonne, P Kohl - Circulation research, 2016 - Am Heart Assoc
Mechanical forces will have been omnipresent since the origin of life, and living organisms
have evolved mechanisms to sense, interpret, and respond to mechanical stimuli. The …

Prognostic prediction of genotype vs phenotype in genetic cardiomyopathies

A Paldino, M Dal Ferro, D Stolfo, I Gandin… - Journal of the American …, 2022 - jacc.org
Background Diverse genetic backgrounds often lead to phenotypic heterogeneity in
cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on …

Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene–related arrhythmogenic right ventricular …

I Rigato, B Bauce, A Rampazzo, A Zorzi… - Circulation …, 2013 - Am Heart Assoc
Background—Mutations in genes encoding for desmosomal proteins are the most common
cause of arrhythmogenic right ventricular cardiomyopathy (ARVC). We assessed the value …