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)
Arrhythmias, Sudden death, Molecular genetics, Desmosomes
Alessandra Rampazzo, Dipartimento di Biologia, Università degli Studi di Padova, Via Ugo Bassi, 58/B, 35131 Padova – Italy, firstname.lastname@example.org
Share this Article
Related Content In Arrhythmia
Spontaneously Recanalized Coronary Thrombus in the Left Anterior Descending Artery Presenting as Ventricular Tachycardia
Heart International. 2020;14(2):123-8 DOI: https://doi.org/10.17925/HI.2020.14.2.123
Spontaneously recanalized coronary thrombus (SRCT), informally known as Swiss-cheese, honeycomb, lotus root or spiderweb lesion, is an increasingly recognised pathology in patients undergoing coronary angiography. Most patients with SRCT present with angina or angina equivalent.1 We describe a case of SRCT in a patient who presented with ventricular tachycardia (VT) without a previous history of ischaemic […]
Prolonged Extracorporeal Membrane Oxygenation Support In a Patient with Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome-associated Fulminant Myocarditis – A Case Report and Literature Review
Heart International. 2020;14(2):112-7 DOI: https://doi.org/10.17925/HI.2020.14.2.112
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a severe cutaneous adverse drug reaction. Symptoms comprise fever, lymphadenopathy, rash, and eosinophilia, with or without visceral organ involvement. The extent of internal organ involvement, including hepatitis, myocarditis, pneumonitis, thyroiditis, and pancreatitis, determines the morbidity and mortality associated with the disease.1–3 We report a case of […]
Atrial Fibrillation and Dementia
European Journal of Arrhythmia & Electrophysiology. 2020;6(1):10-6 DOI: https://doi.org/10.17925/EJAE.2020.6.1.10
Atrial fibrillation (AF) is one of the most common arrhythmias. It affected 33.5 million people worldwide in 2010, a number that is expected to double by 2050.1 AF prevalence increases with age, and approximately 25% of individuals aged 40 years or older will develop AF during their lifetime.2,3 Irrespective of age, AF incidence also increases with diabetes […]
Journal articles and more to your inbox
Get the latest clinical insights from touchCARDIOSign me up!