scholarly journals Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

2004 ◽  
Vol 36 (11) ◽  
pp. 1162-1164 ◽  
Author(s):  
Brenda Gerull ◽  
Arnd Heuser ◽  
Thomas Wichter ◽  
Matthias Paul ◽  
Craig T Basson ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Plakophilin 2 ◽  
Desmosomal Protein

scholarly journals Novel Mutation of Plakophilin-2 Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

2006 ◽  
Vol 70 (7) ◽  
pp. 933-935 ◽  
Author(s):  
Iori Nagaoka ◽  
Keiji Matsui ◽  
Takeshi Ueyama ◽  
Masashi Kanemoto ◽  
Jie Wu ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Novel Mutation ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Plakophilin 2

Restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy

2016 ◽  
Author(s):  
Perry Elliott ◽  
Kristina H. Haugaa ◽  
Pio Caso ◽  
Maja Cikes
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Restrictive Cardiomyopathy ◽  
Left Ventricular ◽  
Muscle Disease ◽  
Left Ventricular Volumes ◽  
Ventricular Cardiomyopathy ◽  
Ventricular Wall Thickness ◽  
Muscle Disorder ◽  
Desmosomal Protein

Restrictive cardiomyopathy is a heart muscle disorder characterized by increased myocardial stiffness that results in an abnormally steep rise in intraventricular pressure with small increases in volume in the presence of normal or decreased diastolic left ventricular volumes and normal ventricular wall thickness. The disease may be caused by mutations in a number of genes or myocardial infiltration. Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac muscle disease associated with sudden cardiac death, ventricular arrhythmias, and cardiac failure. It is most frequently caused by mutations in desmosomal protein genes that lead to fibrofatty replacement of cardiomyocytes, right ventricular dilatation, and aneurysm formation.

scholarly journals The Cardiac Desmosome and Arrhythmogenic Cardiomyopathies

2010 ◽  
Vol 107 (6) ◽  
pp. 700-714 ◽  
Author(s):  
Mario Delmar ◽  
William J. McKenna
Keyword(s):  
Right Ventricular ◽  
Current Knowledge ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Arrhythmogenic Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Intercalated Disc ◽  
Disease Phenotypes ◽  
Molecular Pathophysiology ◽  
Pumping Function ◽  
Desmosomal Protein

Intercellular communication is essential for proper cardiac function. Mechanical and electrical activity need to be synchronized so that the work of individual myocytes transforms into the pumping function of the organ. Mechanical continuity is provided by desmosomes and adherens junctions, while gap junctions provide a pathway for passage of ions and small molecules between cells. These complexes preferentially reside at the site of end-end contact between myocytes, within the intercalated disc. Recognition that some forms of arrhythmogenic cardiomyopathy are caused by mutations in desmosomal protein genes has galvanized interest in the biology of the desmosome and its interactions with other junctional molecules. This review presents the cellular and molecular biology of the desmosome, current knowledge on the relation of desmosomal mutations and disease phenotypes, and an overview of the molecular pathophysiology of arrhythmogenic right ventricular cardiomyopathy. Clinical experience and results from cellular and animal models provide insights into the intercalated disc as a functional unit and into the basic substrates that underlie pathogenesis and arrhythmogenesis of arrhythmogenic right ventricular cardiomyopathy.

scholarly journals Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers

Cardiology ◽  
2021 ◽  
Author(s):  
Anneli Svensson ◽  
Pyotr G. Platonov ◽  
Kristina H. Haugaa ◽  
Wojciech Zareba ◽  
Henrik Kjærulf Jensen ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Genetic Variant ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Plakophilin 2 ◽  
Mutation Carriers
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