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 …
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 …
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 …
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 …
mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also …
Molecular pathophysiology of congenital long QT syndrome
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 …
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 …
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 …
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 …
cause of arrhythmogenic right ventricular cardiomyopathy (ARVC). We assessed the value …
Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare inherited
heart muscle disease characterized by ventricular tachyarrhythmia, predominant right …
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 …
Most sudden deaths are cardiac, and most sudden cardiac deaths are related to arrhythmias …