A polymorphic form of familial arrhythmogenic right ventricular dysplasia

Nava, Andrea; Scognamiglio, R; Thiene, Gaetano; Canciani, B; Daliento, Luciano; Buja, Gianfranco; Stritoni, P; Fasoli, G; Volta, Sergio Dalla

doi:10.1016/0002-9149(87)90929-5

Cited by 86 publications

(17 citation statements)

References 19 publications

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“…4 Over the following decade, this clinical entity was recognized as a familial disease with incomplete penetrance and variable expressivity. 5,6 Credit for the original description of ARVD/C is usually granted to a report on 24 cases that focused on the cardiac electrophysiological attributes of the disease. 7 In addition, the name of this disease state has evolved, from the early eponym of 'Uhl's anomaly' and 'parchment right ventricle', to arrhythmogenic right ventricular dysplasia, which referenced the characteristic histopathology of fibrofatty infiltration of the RV myocardium.…”

Section: Introductionmentioning

confidence: 99%

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

2008

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SUMMARYArrhythmogenic right ventricular dysplasia/cardiomyopathy is an inherited cardiomyopathy estimated to affect approximately 1 in 5,000 individuals. Cardinal manifestations include right ventricular enlargement and dysfunction, fibrofatty replacement of myocytes in the right ventricle, characteristic electrocardiographic abnormalities, and ventricular arrhythmia most commonly arising from the right ventricle. The disease is frequently familial and typically involves autosomal dominant transmission with low penetrance and variable expressivity. Approximately 50% of symptomatic individuals harbor a mutation in one of the five major components of the cardiac desmosome. Nevertheless, other genetic modifiers and environmental factors complicate the clinical management of mutation carriers as well as counseling of their relatives. This Review summarizes the known genetic mutations associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy, describes possible origins of recurrent mutations, presents theories on the pathogenesis of disease following a mutation, and discusses the current issues surrounding clinical use of genetic analysis in the assessment of individuals with this condition.

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Section: Introductionmentioning

confidence: 99%

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

2008

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“…Arrhythmogenic right ventricular cardiomyopathy (ARVC), which was first reported by Fontaine et al in 1977 (1), is a myocardial disease that primarily affects the right ventricle and is characterized by fibrofatty replacement of the myocardium (2)(3)(4)(5)(6). In 1994, an international task force proposed a series of diagnostic criteria based on the electrocardiographic and morphologic features to facilitate the clinical diagnosis of ARVC (4) …”

Section: Introductionmentioning

confidence: 99%

Right Atrial Thrombosis as a Complication of Arrhythmogenic Right Ventricular Cardiomyopathy

et al. 2006

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“…3 The phenotype of ARVC/D is highly variable, including ventricular tachycardia, supraventricular arrhythmias, rightheart failure, or asymptomatic presentations, but all too often the first and only symptom is sudden death. 4,5 Because of the subtlety of the clinical phenotype, consensus criteria were developed on the basis of structural, functional, and electrocardiographic manifestations. 6 ARVC/D prevalence has been estimated to be 1 in 5000.…”

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confidence: 99%

Circumstances of Death and Gross and Microscopic Observations in a Series of 200 Cases of Sudden Death Associated With Arrhythmogenic Right Ventricular Cardiomyopathy and/or Dysplasia

et al. 2003

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Background— Sudden death is a possible consequence of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). Prevalence of ARVC/D in unexpected sudden cardiac death (USCD), however, remains imprecise, as do circumstances of death and ARVC/D-associated gross and microscopic findings, especially His bundle anomalies. Methods and Results— We reviewed 14 000 forensic autopsies required by judicial authorities from January 1980 to January 1999 in a 2 000 000-resident area. Age, gender, and circumstances of death were recorded. Hearts were examined macroscopically and microscopically. In this series, the ARVC/D group accounted for 200 consecutive cases (10.4%) of USCD, including 108 males and 92 females (average age 32.5 and 34.5 years, respectively). Nearly one third of deaths occurred during the fourth decade of life. Circumstances of death were various, but 75.6% occurred during everyday life events (at home, 63.1%; in the street, 6.6%; or at work, 6.1%); only 7 cases (3.5%) occurred during sports activity. Nineteen cases (9.5%) happened during the perioperative period. Adipose infiltration of the right ventricle was either isolated (20%) or associated with fibrosis (74.5%) and lymphocytes (5.5%). A total of 14.5% of cases had cardiac hypertrophy, assessed by an increase in heart weight and/or left ventricular wall thickness. In most cases, the His bundle and its branches were abnormal either because of infiltration of adipose tissue (8.1%), fibrosis (54.3%), or both (5.6%). Conclusions— In ARVC/D, both sexes are equally affected, and there is a peak of risk during the fourth decade. Death most frequently occurs during sedentary activity. His abnormalities and left ventricular hypertrophy may be associated with ARVC/D.

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A polymorphic form of familial arrhythmogenic right ventricular dysplasia

Cited by 86 publications

References 19 publications

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

Right Atrial Thrombosis as a Complication of Arrhythmogenic Right Ventricular Cardiomyopathy

Circumstances of Death and Gross and Microscopic Observations in a Series of 200 Cases of Sudden Death Associated With Arrhythmogenic Right Ventricular Cardiomyopathy and/or Dysplasia

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