Abstract
Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic cardiomyopathy characterized clinically by ventricular arrhythmias and progressive right ventricular (RV) dysfunction. The histopathologic hallmark is fibro-fatty replacement of RV myocardium. It is inherited in an autosomal pattern with variable penetrance. ARVD is unique in that it most commonly presents in young, otherwise healthy and highly athletic individuals. The cause of ARVD is not well-known but recent evidence suggests strongly that it is a disease of desmosomal dysfunction. The disease involvement is not limited only to the RV as left ventricle (LV) has also been reportedly affected. Diagnosis of ARVD is challenging and is currently based upon a multi-disciplinary work-up of the patient as defined by the Task Force. Currently, implanted cardioverter defibrillators (ICD) are routinely used to prevent sudden death in patients with ARVD. Cardiovascular MR is an important non-invasive diagnostic modality that allows both qualitative and quantitative evaluation of RV. This article reviews the genetics of ARVD, current status and role of CMR in the diagnosis of ARVD and LV involvement in ARVD.
Highlights
left ventricle (LV) involvement in Arrhythmogenic right ventricular dysplasia (ARVD) has been increasingly described, with prevalence reported as 16% [42] to 76% [77]
We have found that dyssynchronous contraction of the right ventricle (RV) basal free wall may represent an early phenotypic expression of desmosomal mutations in the RV in asymptomatic first-degree relatives of ARVD pro-bands
These cases of early and/or predominant LV involvement in ARVD have brought into question the traditional consideration of LV involvement as only an end-stage complication of progressive RV dilatation and dysfunction in ARVD
Summary
Arrhythmogenic right ventricular dysplasia (ARVD) is a progressive cardiomyopathy primarily affecting the right ventricle (RV) and is characterized by fatty/fibro-fatty replacement with myocyte loss, ventricular arrhythmias of left bundle branch block pattern (LBBB) and right heart failure. It is speculated that like other inherited cardiovascular diseases hypertrophic cardiomyopathy and long QT syndrome, a small minority of ARVD cases may have more than one co-existent mutations This is yet to be proven, digenic inheritance with a gene dose effect might account for many unexplained observations, including relatives with mild but http://www.jcmr-online.com/content/10/1/32 definite disease affliction who are "negative" for the family mutation and variable penetrance and expressivity in families with apparently identical genotype [36]. Tandri at al [54] found good inter-observer agreement for fat and excellent reliability for other qualitative and quantitative variables among experienced CMR readers by the use of a uniform imaging protocol and application of fat-suppression on breath-hold double-inversion recovery blood suppression pulses Both Bluemke et al [55] and Tandri et al [54] concluded that the identification of fat within the myocardium is the least specific and least
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