Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital

https://doi.org/10.1016/j.ijcard.2003.10.037Get rights and content

Abstract

In a cardiological department of a non-referral hospital responsible for 80,000 inhabitants with 2500 in-hospital patients and 1500 out-hospital patients per year, the prevalence, symptoms and prognosis of arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD/C) were examined retrospectively.

From 1997 to 2002, ARVD/C was diagnosed in 35 females and 45 males (overall prevalence 1 in 1000 inhabitants) with a mean age of 45.6 years. Symptoms were chest pain (80%), palpitations (60%) and syncopes (30%), and clinical findings were repetitive ventricular premature beats (50%), supraventricular arrhythmias (30%), ventricular tachycardia (20%), aborted sudden death due to ventricular fibrillation (1%), right heart failure (4%), biventricular heart failure (1%) and high grade AV nodal block (4%). Endomyocardial biopsies were not performed.

Aborted sudden death occurred in only one patient (0.3%) before the diagnosis was made, annual heart failure rate was 1%. No deaths appeared in a follow-up of 1–5 (mean 2.4) years with clinical assessment as the basis of diagnosis.

The prevalence of ARVD/C is much higher and the prognosis better than expected from results of reference centers.

Introduction

Arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD/C) is a pathologically and histologically well-defined cardiac entity [1]. The frequency of familial disease is estimated to be 30% [2]. In referral centers, the prevalence is about 1 in 5000–10,000 inhabitants, although in regions with intensive family screening such as the Veneto region this disease appears to be much more common [3].

Ventricular tachyarrhythmias, syncope and sudden cardiac death are leading symptoms and in a younger population sustained ventricular tachycardia in ARVD/C is one of the main reasons for electrophysiological studies [4]. The problem of sudden arrhythmic death is often seen in young adolescents and predominantly described in competitive athletes [5]. Little is known about the prevalence, clinical symptoms and prognosis of ARVD/C in non-referral hospitals.

Section snippets

Methods

Since 1997, the Cardiological Department of the Academic Teaching Hospital in Quedlinburg is responsible for 80,000 inhabitants as the only hospital in the county with 2500 in-hospital patients per year and 1500 out-hospital patients seen by only one cardiologist (S.P.) with the possibility of extensive non-invasive examinations and a catheter laboratory for invasive and interventional cardiology.

The prevalence of patients with ARVD/C living in the county of Quedlinburg was retrospectively

Results

From 1997 to 2002, ARVD/C was diagnosed in 35 female and 45 male non-familial cases (overall prevalence 1 in 1000 inhabitants) with a mean age of 45.6 years (range: 22–91 years) in the Academic Teaching Hospital of Quedlinburg.

First degree relatives were examined in 12 cases with familial predisposition in all cases with up to 3 additional affected family members. In three screened families, there was a history of unexplained sudden cardiac death at younger age.

Symptoms in patients with ARVD/C

Discussion

Very little is known about the prevalence, symptoms and prognosis of arrhythmogenic right ventricular dysplasia-cardiomyopathy in non-referral hospitals. From centers that perform systematic family screening, one can suppose that the prevalence of ARVD/C is higher than expected. From the Veneto region in Italy, the expected prevalence is higher than 6 in 10,000 inhabitants [1], [3]. In general, difficulties in defining the true prevalence are due to familial cases without clinical symptoms or

References (13)

There are more references available in the full text version of this article.

Cited by (162)

  • Arrhythmogenic Right Ventricular Cardiomyopathy

    2022, JACC: Clinical Electrophysiology
  • Clinical and genetic features of arrhythmogenic cardiomyopathy: the electrophysiology perspective

    2021, Progress in Pediatric Cardiology
    Citation Excerpt :

    Subsequent work by McKoy et al. identified homozygous mutations in the gene encoding the protein plakoglobin (JUP), a desmosomal protein integral to cell-cell adhesion in both cardiomyocyte and cutaneous tissue, as the cause of this autosomal recessive disorder [3]. Variants in other genes encoding desmosomal proteins including, most importantly, plakophilin-2 (PKP2) [4] and less commonly desmoplakin (DSP) [5] as well as the desmosomal cadherins desmoglein-2 (DSG2) [6] and desmocollin-2 (DSC2) [7] were subsequently identified as causal in the autosomal dominant form of the disease. While the pathogenesis of the cardiac disease was initially thought to be secondary to right ventricular dysplasia, it became clear that this was a myopathic, rather than developmental, process and the disease was subsequently known as arrhythmogenic right ventricular cardiomyopathy (ARVC).

View all citing articles on Scopus
View full text