Arrythmogenic Right Ventricular Dysplasia(ARVD)

不整脈源性右室異形成（ARVD）
不整脈源性右室異形成（ARVD）




Clinical manifestations and diagnosis of arrhythmogenic right ventricular dysplasia
William J McKenna, MD

INTRODUCTION — Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC), is an underrecognized clinical entity characterized by ventricular arrhythmias and a specific ventricular pathology [1-3]. ARVD is characterized macroscopically by a fatty appearance of the RV free wall. The fibrofatty replacement of the RV myocardium initially produces typical regional wall motion abnormalities that later become global, producing RV dilation. The tissue replacement can also involve area of the left ventricle (LV) with relative sparing of the septum [4].

The incidence of ARVD is unknown, but the prevalence in the general population is estimated to be approximately 1:1000 [1]. ARVD is an important cause of sudden cardiac death (SCD) in young adults in northern Italy [5,6], accounting for approximately 11 percent of cases overall and 22 percent in athletes [6].

In contrast, ARVD 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 ARVD patients from a single referral center in the United States, clinical profiles and event rates were similar to those reported in Europe [7].

The clinical manifestations, diagnostic criteria, and evaluation of ARVD will be reviewed here. The genetics, pathogenesis, treatment, and prognosis of ARVD are discussed separately. (See "Genetics and pathogenesis of arrhythmogenic right ventricular dysplasia" and see "Treatment and prognosis of arrhythmogenic right ventricular dysplasia").

CLINICAL PRESENTATION — Clinical perspectives of ARVD primarily arise from experience with patients who present with arrhythmia of right ventricular (RV) origin and/or sudden death. Presentation is most common between the ages of 10 and 50, with a mean age at diagnosis of approximately 30 years [7-9]. The disease is virtually never diagnosed in infancy and uncommonly before the age of 10.





Genetics and pathogenesis of arrhythmogenic right ventricular dysplasia
William J McKenna, MD

INTRODUCTION — Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC), is an underrecognized clinical entity characterized by ventricular arrhythmias and a specific ventricular pathology [1-3]. ARVD is characterized macroscopically by a fatty appearance of the RV free wall. The fibrofatty replacement of the RV myocardium initially produces typical regional wall motion abnormalities that later become global, producing RV dilation. The tissue replacement can also involve area of the left ventricle (LV) with relative sparing of the septum [4].

The incidence of ARVD is unknown, but the prevalence in the general population is estimated to be 1:1000 [1]. ARVD is an important cause of sudden cardiac death (SCD) in young adults in northern Italy [2,5], accounting for approximately 11 percent of cases overall and 22 percent in athletes [5].

In contrast, ARVD 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 ARVD patients from a single referral center in the United States, clinical profiles and event rates were similar to those reported in Europe [6].

The anatomy, histology, genetics, and pathogenesis of ARVD will be reviewed here. The clinical manifestations, diagnostic criteria, evaluation, treatment, and prognosis of ARVD are discussed separately. (See "Clinical manifestations and diagnosis of arrhythmogenic right ventricular dysplasia" and see "Treatment and prognosis of arrhythmogenic right ventricular dysplasia").

ANATOMY AND HISTOLOGY — The anatomic and histologic findings associated with ARVD fall into several categories. Structurally, the hallmark findings are RV dilation and myocardial thinning although some patients also have LV involvement. Histologically, fibrofatty infiltration of the myocardium is the most common finding. In addition, electron microscopy has shown abnormalities of desmosomes in the RV myocardium, which is consistent with mutations in genes encoding desmosomal proteins being responsible for ARVD in most patients. (See "Genetics" below).







Treatment and prognosis of arrhythmogenic right ventricular dysplasia
William J McKenna, MD

INTRODUCTION — Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC), is an underrecognized clinical entity manifested by ventricular arrhythmias and a specific ventricular pathology [1-3]. It is characterized macroscopically by a fatty appearance of the right ventricular (RV) free wall. The fibrofatty replacement of the RV myocardium initially produces typical regional wall motion abnormalities that later become global, producing RV dilation. The tissue replacement can also involve areas of the left ventricle (LV) with relative sparing of the septum [4].

The prevalence in the general population is estimated to be approximately 1:1000 [1]. ARVD appears to be relatively common in young adults in northern Italy [2,5], accounting for approximately 11 percent of the cases of sudden cardiac death (SCD) overall and 22 percent in athletes [5].

In contrast, ARVD 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 ARVD patients from a single referral center in the United States, clinical profiles and event rates were similar to those reported in Europe [6].

The treatment and prognosis of ARVD will be reviewed here. The genetics, pathogenesis, clinical manifestations, diagnostic criteria, and evaluation are discussed separately. (See "Genetics and pathogenesis of arrhythmogenic right ventricular dysplasia" and see "Clinical manifestations and diagnosis of arrhythmogenic right ventricular dysplasia").