The MOGE (S) classification of cardiomyopathy for clinicians

E Arbustini, N Narula, L Tavazzi, A Serio… - Journal of the American …, 2014 - jacc.org
Most cardiomyopathies are familial diseases. Cascade family screening identifies
asymptomatic patients and family members with early traits of disease. The inheritance is …

Genome editing in induced pluripotent stem cells using CRISPR/Cas9

R Ben Jehuda, Y Shemer, O Binah - Stem Cell Reviews and Reports, 2018 - Springer
The development of the reprogramming technology led to generation of induced Pluripotent
Stem Cells (iPSC) from a variety of somatic cells. Ever since, fast growing knowledge of …

Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome

D Hu, H Barajas-Martínez, R Pfeiffer, F Dezi… - Journal of the American …, 2014 - jacc.org
Background: BrS is an inherited sudden cardiac death syndrome. Less than 35% of BrS
probands have genetically identified pathogenic variants. Recent evidence has implicated …

Genetic advances in sarcomeric cardiomyopathies: state of the art

CY Ho, P Charron, P Richard, F Girolami… - Cardiovascular …, 2015 - academic.oup.com
Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere
mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also …

Molecular pathophysiology of congenital long QT syndrome

MS Bohnen, G Peng, SH Robey… - Physiological …, 2017 - journals.physiology.org
Ion channels represent the molecular entities that give rise to the cardiac action potential,
the fundamental cellular electrical event in the heart. The concerted function of these …

Arrhythmogenic right ventricular cardiomyopathy: clinical course and predictors of arrhythmic risk

A Mazzanti, K Ng, A Faragli, R Maragna… - Journal of the American …, 2016 - jacc.org
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a leading cause of
sudden cardiac death, but its progression over time and predictors of arrhythmias are still …

Inherited cardiomyopathies

JA Towbin - Circulation Journal, 2014 - jstage.jst.go.jp
Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity and
mortality. A significant percentage of patients with cardiomyopathies have genetic-based …

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 …

Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient

W Wang, CA James, H Calkins - Ep Europace, 2019 - academic.oup.com
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare inherited
heart muscle disease characterized by ventricular tachyarrhythmia, predominant right …

Sudden cardiac death

VP Kuriachan, GL Sumner, LB Mitchell - Current problems in cardiology, 2015 - Elsevier
Abstract Sudden death accounts for 300,000-400,000 deaths annually in the United States.
Most sudden deaths are cardiac, and most sudden cardiac deaths are related to arrhythmias …