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Arrhythmogenic right ventricular cardiomyopathy: Anatomy, histology, and clinical manifestations

Author
William J McKenna, MD
Section Editor
Hugh Calkins, MD
Deputy Editor
Brian C Downey, MD, FACC

INTRODUCTION

Arrhythmogenic right ventricular cardiomyopathy (ARVC), formerly called "arrhythmogenic right ventricular dysplasia" (ARVD), is an underrecognized clinical entity characterized by ventricular arrhythmias and a characteristic ventricular pathology [1-3]. Macroscopically, there is a scarred appearance with fibrous or fibro-fatty replacement of myocardium. Multiple reports have historically characterized these pathologic changes as the "triangle of dysplasia" involving the inflow tract, outflow tract, and/or apex of the RV. However, more recent data has noted involvement of the posterolateral LV with sparing of the RV apex early in the disease [4]. The RV myocardial scarring initially produces typical regional wall motion abnormalities but later may involve the free wall and become global, producing RV dilation. The tissue replacement can also involve areas of the left ventricle (LV) with relative sparing of the septum [5].

The anatomic and histologic findings associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) fall into several categories. Structurally, the hallmark findings are regional, progressing to global, right ventricle (RV) dilation, and myocardial thinning. Most patients also have left ventricle (LV) myocyte loss and fibrosis, usually involving the LV lateral and posterior walls. Histologically, fibrofatty infiltration of the myocardium is the most common finding. In addition, electron microscopy has shown gap junction abnormalities of desmosomes in the RV myocardium, which is consistent with mutations in genes encoding desmosomal proteins being responsible for ARVC in most patients. (See "Arrhythmogenic right ventricular cardiomyopathy: Pathogenesis and genetics", section on 'Genetics'.)

Clinical perspectives of ARVC initially arose from experience with patients who present with arrhythmias of right ventricular (RV) origin and/or sudden death. However, additional information has been learned regarding the clinical features and clinical course of subjects identified based on ECG abnormalities and by cascade family screening [6]. Presentation is most common between the ages of 10 and 50 years, with a mean age at diagnosis of approximately 30 years [6-9]. The disease is virtually never diagnosed in infants or toddlers and is rarely identified before the age of 10.

The anatomy, histology, and clinical manifestations of ARVC will be reviewed here. The pathogenesis, genetics, diagnostic evaluation, treatment, and prognosis of ARVC are discussed separately. (See "Arrhythmogenic right ventricular cardiomyopathy: Pathogenesis and genetics" and "Arrhythmogenic right ventricular cardiomyopathy: Diagnostic evaluation and diagnosis" and "Arrhythmogenic right ventricular cardiomyopathy: Treatment and prognosis".)

PREVALENCE

The prevalence of ARVC in the general adult population is estimated to be approximately 1 in 2000 to 1 in 5000 [10]. ARVC is an important cause of sudden cardiac death (SCD) in young adults, accounting for approximately 11 percent of cases overall and 22 percent in athletes in a study from northern Italy [11,12]. In contrast, ARVC has been rarely diagnosed in the United States. This may reflect a difference in genetic prevalence, but is more likely due to under-recognition of disease. In a series of 100 ARVC patients from a single referral center in the United States, clinical profiles and event rates were similar to those reported in Europe [7].

                       

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Literature review current through: Nov 2016. | This topic last updated: Wed Nov 16 00:00:00 GMT+00:00 2016.
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