Genetic bases of arrhythmogenic right ventricular cardiomyopathy
Abstract
Overview
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease
in which the pathological substrate is a fibro-fatty replacement of the right ventricular myocardium.
The major clinical features are different types of arrhythmias with a left branch block pattern.
ARVC shows autosomal dominant inheritance with incomplete penetrance. Recessive forms
were also described, although in association with skin disorders.
Ten genetic loci have been discovered so far and mutations were reported in five different genes.
ARVD1 was associated with regulatory mutations of transforming growth factor beta-3 (TGFβ3),
whereas ARVD2, characterized by effort-induced polymorphic arrhythmias, was associated with
mutations in cardiac ryanodine receptor-2 (RYR2). All other mutations identified to date have
been detected in genes encoding desmosomal proteins: plakoglobin (JUP) which causes Naxos
disease (a recessive form of ARVC associated with palmoplantar keratosis and woolly hair);
desmoplakin (DSP) which causes the autosomal dominant ARVD8 and plakophilin-2 (PKP2) involved
in ARVD9. Desmosomes are important cell-to-cell adhesion junctions predominantly
found in epidermis and heart; they are believed to couple cytoskeletal elements to plasma membrane
in cell-to-cell or cell-to-substrate adhesions. (Heart International 2006; 2: 17-26)
Keywords
Arrhythmias, Sudden death, Molecular genetics, Desmosomes
Article Information
Correspondence
Alessandra Rampazzo, Dipartimento di Biologia, Università degli Studi di Padova, Via Ugo Bassi, 58/B, 35131 Padova – Italy, alessandra.rampazzo@unipd.it
Acknowledgements
The financial support for this study was NIH grant
U04HL65652 and ARVD Project QLGI-CT-2000-01091,UE.
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