2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of …

Authors/Task Force Members, SG Priori… - Ep …, 2015 - academic.oup.com
The present document has been conceived as the European update to the American
College of Cardiology (ACC)/American Heart Association (AHA)/ESC 2006 Guidelines for …

The clinical use of stress echocardiography in non-ischaemic heart disease: recommendations from the European Association of Cardiovascular Imaging and the …

P Lancellotti, PA Pellikka, W Budts… - European Heart …, 2016 - academic.oup.com
A unique and highly versatile technique, stress echocardiography (SE) is increasingly
recognized for its utility in the evaluation of non-ischaemic heart disease. SE allows for …

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 …

Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs

C Kim, J Wong, J Wen, S Wang, C Wang, S Spiering… - Nature, 2013 - nature.com
Cellular reprogramming of somatic cells to patient-specific induced pluripotent stem cells
(iPSCs) enables in vitro modelling of human genetic disorders for pathogenic investigations …

Epigenetics and metabolism

ST Keating, A El-Osta - Circulation research, 2015 - Am Heart Assoc
The molecular signatures of epigenetic regulation and chromatin architectures are
fundamental to genetically determined biological processes. Covalent and post-translational …

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 …

The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy

SN Chen, P Gurha, R Lombardi, A Ruggiero… - Circulation …, 2014 - Am Heart Assoc
Rationale: Mutations in the intercalated disc proteins, such as plakophilin 2 (PKP2), cause
arrhythmogenic cardiomyopathy (AC). AC is characterized by the replacement of cardiac …

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 …

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 …