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.
Further Resources
Trending Topic
Ventricular fibrillation (VF) is characterized by rapid (>300 beats a per minute), irregular electrical activation with variable electrocardiographic waveforms that prevents coordinated myocardial contraction, resulting in immediate loss of cardiac output.1 It most commonly occurs in the context of coronary artery disease.2,3 Resuscitation efforts are critically time-dependent: with each minute of untreated VF, the survival rate declines […]
Ventricular fibrillation (VF) is characterized by rapid (>300 beats a per minute), irregular electrical activation with variable electrocardiographic waveforms that prevents coordinated myocardial contraction, resulting in immediate loss of cardiac output.1 It most commonly occurs in the context of coronary ...
The official abstracts from the Heart Rhythm Congress (HRC) 2025
It is with pride and gratitude that we reflect on the remarkable 10-year journey of European Journal of Arrhythmia & Electrophysiology. With the vital contributions of all of our esteemed authors, reviewers and editorial board members, the journal has served ...
Postural tachycardia syndrome (PoTS) is a chronic condition, predominately affecting women between the ages of 15 and 50, and prevalence is estimated to be 0.2%.1,2 It is characterised by an abnormal response by the autonomic nervous system to changes in posture causing lightheadedness ...
Catheter ablation (CA) is an invasive adjunctive therapeutic option for atrial and ventricular arrhythmias, in uncontrolled cases, following optimal medical therapy.1,2Â The validation of 3D mapping and its implementation into clinical usage has been a remarkable achievement in the field ...
Welcome to the latest issue of the European Journal of Arrhythmia & Electrophysiology, the official journal of the Arrhythmia Alliance. We are honoured to present a series of compelling articles that reflect cutting-edge developments and diverse perspectives in this ever-evolving ...
Ventricular tachycardia (VT) ablation presents a challenging and growing area of focus in the realm of complex ablation, with promises of improved patient’s quality of life and clinical outcomes.1,2 Classic approaches to VT ablation centered on arrhythmia induction and ...
For decades, right ventricular pacing (RVP) has been the leading pacing technique and has been proven to be effective in treating patients with symptomatic bradycardia. However, dyssynchrony caused by non-physiological ventricular activation results in pacing-induced cardiomyopathy occurs in approximately 15% of ...
Supraventricular tachycardia (SVT) is an important cause of intrusive palpitation symptoms. This expert interview explores a nurse-led end-to-end pathway for the diagnosis, assessment and management of this condition. It was conducted at the Barts Heart Centre of Barts Health NHS ...
Highlights Failure to target and deliver durable radiofrequency lesions to all functionally critical areas has been identified as an important cause of ventricular tachycardia recurrence and is particularly challenging in deep midmyocardial or very extensive substrate where point-by-point radiofrequency ablation ...
Bradycardia, renal failure, atrioventricular nodal blockade, shock and hyperkalemia (BRASH) syndrome is a rare, often unrecognized but potentially life-threatening clinical entity that is characterized by the pentad of symptoms after which it is named. BRASH syndrome is seen most commonly ...
Radiofrequency (RF) ablation involves delivering medium-to-high-frequency alternating current, which is electrically conducted to cardiac tissue that constitutes a part of the circuit. The unipolar circuitry contains the generator, transmission lines, catheter, cardiac tissue, interposed tissue and dispersive electrode (ground pad/...
Log into your Touch Account
Keep track of your clinical interests and newsletter subscriptions.
Sign up with an Email
Or use a .
Register now for FREE access
Already registered? Login below.
