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Arrhythmogenic right ventricular cardiomyopathy/dysplasia

, 1 , 1 , 1

Orphanet Journal of Rare Diseases

BioMed Central

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      Abstract

      Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The causative genes encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodeling. Familiar occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been proven. Recessive variants associated with palmoplantar keratoderma and woolly hair have been also reported. Clinical diagnosis may be achieved by demonstrating functional and structural alterations of the right ventricle, depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block morphology and fibro-fatty replacement through endomyocardial biopsy. Two dimensional echo, angiography and magnetic resonance are the imaging tools for visualizing structural-functional abnormalities. Electroanatomic mapping is able to detect areas of low voltage corresponding to myocardial atrophy with fibro-fatty replacement. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dialted cardiomyopathy and sarcoidosis. Only palliative therapy is available and consists of antiarrhythmic drugs, catheter ablation and implantable cardioverter defibrillator. Young age, family history of juvenile sudden death, QRS dispersion ≥ 40 ms, T-wave inversion, left ventricular involvement, ventricular tachycardia, syncope and previous cardiac arrest are the major risk factors for adverse prognosis. Preparticipation screening for sport eligibility has been proven to be effective in detecting asymptomatic patients and sport disqualification has been life-saving, substantially declining sudden death in young athletes.

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      Most cited references 79

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      Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

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        Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program.

        A nationwide systematic preparticipation athletic screening was introduced in Italy in 1982. The impact of such a program on prevention of sudden cardiovascular death in the athlete remains to be determined. To analyze trends in incidence rates and cardiovascular causes of sudden death in young competitive athletes in relation to preparticipation screening. A population-based study of trends in sudden cardiovascular death in athletic and nonathletic populations aged 12 to 35 years in the Veneto region of Italy between 1979 and 2004. A parallel study examined trends in cardiovascular causes of disqualification from competitive sports in 42,386 athletes undergoing preparticipation screening at the Center for Sports Medicine in Padua (22,312 in the early screening period [1982-1992] and 20,074 in the late screening period [1993-2004]). Incidence trends of total cardiovascular and cause-specific sudden death in screened athletes and unscreened nonathletes of the same age range over a 26-year period. During the study period, 55 sudden cardiovascular deaths occurred in screened athletes (1.9 deaths/100,000 person-years) and 265 sudden deaths in unscreened nonathletes (0.79 deaths/100,000 person-years). The annual incidence of sudden cardiovascular death in athletes decreased by 89% (from 3.6/100,000 person-years in 1979-1980 to 0.4/100,000 person-years in 2003-2004; P for trend < .001), whereas the incidence of sudden death among the unscreened nonathletic population did not change significantly. The mortality decline started after mandatory screening was implemented and persisted to the late screening period. Compared with the prescreening period (1979-1981), the relative risk of sudden cardiovascular death in athletes was 0.56 in the early screening period (95% CI, 0.29-1.15; P = .04) and 0.21 in the late screening period (95% CI, 0.09-0.48; P = .001). Most of the reduced mortality was due to fewer cases of sudden death from cardiomyopathies (from 1.50/100,000 person-years in the prescreening period to 0.15/100,000 person-years in the late screening period; P for trend = .002). During the study period, 879 athletes (2.0%) were disqualified from competition due to cardiovascular causes at the Center for Sports Medicine: 455 (2.0%) in the early screening period and 424 (2.1%) in the late screening period. The proportion of athletes who were disqualified for cardiomyopathies increased from 20 (4.4%) of 455 in the early screening period to 40 (9.4%) of 424 in the late screening period (P = .005). The incidence of sudden cardiovascular death in young competitive athletes has substantially declined in the Veneto region of Italy since the introduction of a nationwide systematic screening. Mortality reduction was predominantly due to a lower incidence of sudden death from cardiomyopathies that paralleled the increasing identification of athletes with cardiomyopathies at preparticipation screening.
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          Does sports activity enhance the risk of sudden death in adolescents and young adults?

          We sought to assess the risk of sudden death (SD) in both male and female athletes age 12 to 35 years. Little is known about the risk of SD in adolescents and young adults engaged in sports. We did a 21-year prospective cohort study of all young people of the Veneto Region of Italy. From 1979 to 1999, the total population of adolescents and young adults averaged 1,386,600 (692,100 males and 694,500 females), of which 112,790 (90,690 males and 22,100 females) were competitive athletes. An analysis by gender of risk of SD and underlying pathologic substrates was performed in the athletic and non-athletic populations. There were 300 cases of SD, producing an overall cohort incidence rate of 1 in 100,000 persons per year. Fifty-five SDs occurred among athletes (2.3 in 100,000 per year) and 245 among non-athletes (0.9 in 100,000 per year), with an estimated relative risk (RR) of 2.5 (95% confidence interval [CI] 1.8 to 3.4; p < 0.0001). The RR of SD among athletes versus non-athletes was 1.95 (CI 1.3 to 2.6; p = 0.0001) for males and 2.00 (CI 0.6 to 4.9; p = 0.15) for females. The higher risk of SD in athletes was strongly related to underlying cardiovascular diseases such as congenital coronary artery anomaly (RR 79, CI 10 to 3,564; p < 0.0001), arrhythmogenic right ventricular cardiomyopathy (RR 5.4, CI 2.5 to 11.2; p < 0.0001), and premature coronary artery disease (RR 2.6, CI 1.2 to 5.1; p = 0.008). Sports activity in adolescents and young adults was associated with an increased risk of SD, both in males and females. Sports, per se, was not a cause of the enhanced mortality, but it triggered SD in those athletes who were affected by cardiovascular conditions predisposing to life-threatening ventricular arrhythmias during physical exercise.
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            Author and article information

            Affiliations
            [1 ]Pathological Anatomy, Department of Medical-Diagnostic Sciences and Special Therapies, University of Padua Medical School, Padua, Italy
            Contributors
            Journal
            Orphanet J Rare Dis
            Orphanet Journal of Rare Diseases
            BioMed Central
            1750-1172
            2007
            14 November 2007
            : 2
            : 45
            2222049
            1750-1172-2-45
            18001465
            10.1186/1750-1172-2-45
            Copyright © 2007 Thiene et al; licensee BioMed Central Ltd.

            This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

            Categories
            Review

            Infectious disease & Microbiology

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