A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

Asimaki, Angeliki; Tandri, Harikrishna; Huang, Hayden; Halushka, Marc K.; Gautam, Shiva; Basso, Cristina; Thiene, Gaetano; Tsatsopoulou, Adalena; Protonotarios, Nikos; McKenna, William J.; Calkins, Hugh; Saffitz, Jeffrey E.

doi:10.1056/nejmoa0808138

Cited by 411 publications

(374 citation statements)

References 22 publications

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“…28 Finally, Asimaki et al showed that immunohistochemical analysis of conventional endomyocardial biopsy samples appears to be both a highly sensitive and specific diagnostic test for ARVC/D, as was demonstrated in a group of 11 ARVC/D patients. 26 Reduced immunoreactive signal levels of plakoglobin and Cx43 were found to be a consistent feature in patients with ARVC/D. Although we found reduced signal levels for plakoglobin in one of the p.Arg79X mutation carriers, this was not a consistent finding in another series of patients (data not shown) and further studies are required to establish the possible role of immunohistochemical analysis in patients with ARVC/D.…”

Section: B Amentioning

confidence: 51%

“…Immunohistochemical analysis of plakoglobin, based on the use of immuno peroxidase as described by Asimaki et al, 26 was performed on myocardial samples of patient III:1 from family G39. When compared with that of a myocardial sample of a control heart, a strong decrease of plakoglobin expression at the desmosomes, in both the right and left ventricle, was detected.…”

Section: Clinical Evaluation and Diagnostic Criteriamentioning

confidence: 99%

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Recurrent and founder mutations in the Netherlands

et al. 2010

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Section: B Amentioning

confidence: 51%

Section: Clinical Evaluation and Diagnostic Criteriamentioning

confidence: 99%

Recurrent and founder mutations in the Netherlands

et al. 2010

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“…As expected, these mice develop cardiomyopathy with dilation, pronounced fibrosis and arrhythmia. It has been suggested that alterations in the ID localization of the plaque protein plakoglobin are reliable diagnostic criteria for ARVC, with important implications for its pathogenesis occurring in concert with the related arm-repeat proteins plakophilin 2 and β-catenin (Garcia- Gras et al 2006;Asimaki et al 2009;Fabritz et al 2011). We therefore examined the protein level and distribution of these polypeptides in our mouse model.…”

Section: A 38 -Endothelial Plasticity In Cardiac Valvesmentioning

confidence: 99%

Special issue Heidelberg Heart II: Abstracts of oral and poster presentations

Franke

2012

Cell Tissue Res

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“…5) It has recently been demonstrated that the expression of plakoglobin, a component of both the adherens junctions and desmosomes, was decreased in uninvolved myocardium of ARVC with normal expression of N-cadherin by immunostaining. 6) Moreover, the previous study showed that immunoreactive signals for connexin 43, a gap junction component, as well as plakoglobin, were also disturbed in around 70% of patients with ARVC. 7) However, no report has examined the relationships between these protein expressions and the clinical characteristics in ARVC.…”

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Relationships Between Clinical Characteristics and Decreased Plakoglobin and Connexin 43 Expressions in Myocardial Biopsies From Patients With Arrhythmogenic Right Ventricular Cardiomyopathy

et al. 2015

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SummaryReduced expressions of plakoglobin and connexin 43 have been reported in the myocardium of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). However, the relationships between these expression abnormalities and the clinical features of ARVC remain unknown.The expressions of plakoglobin and connexin 43 in myocardial biopsy specimens from 10 patients with confirmed ARVC, and 13 control patients without ARVC (non-ARVC; hypertrophic cardiomyopathy, n = 7; dilated cardiomyopathy, n = 6), were examined by immunostaining to evaluate the relationships between these expressions and the clinical characteristics of ARVC. The ratios of plakoglobin/N-cadherin and of plakoglobin/connexin 43 expressions were significantly lower in the ARVC group than in the control group. Significantly more patients had decreased plakoglobin expression in the ARVC group than in the control group (9/10 versus 7/13; P = 0.0376). Sustained ventricular tachycardia occurred more frequently in patients with ARVC and with decreased expressions of both plakoglobin and connexin 43 than in those with decreased expression of plakoglobin alone (5/5 versus 1/4, P = 0.048).Decreased expressions of both connexin 43 and plakoglobin in the myocardium might be associated with the development of arrhythmia in ARVC. (Int Heart J 2015; 56: 626-631) Key words: Arrhythmia, Intercalated disc, Pathology A rrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle that predominantly affects the right ventricle and is associated with ventricular tachycardia, syncope, sudden death, and the characteristic pathological feature of cardiac myocytes being replaced with adipocytes and fibrosis. 1) Implantation of an implantable cardioverter-defibrillator is one of the treatments of sustained ventricular arrhythmia for prevention of sudden cardiac death in ARVC patients.2) However, there is no specific biomarker or predictor of arrhythmic events in ARVC, while a number of biomarkers reflective of myocardial stress and damage have been developed, 3) and P wave analysis has been reported to be useful for predicting new onset of atrial fibrillation. 4) One of the reasons for a lack of specific biomarkers was because the precise mechanisms of ARVC had not been determined.Cardiac myocytes have three different types of intercellular junctions at the cardiac intercalated disc (adherens junctions, desmosomes, and gap junctions), and the identified gene mutations of ARVC include the intracellular junction proteins, plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. 5)It has recently been demonstrated that the expression of plakoglobin, a component of both the adherens junctions and desmosomes, was decreased in uninvolved myocardium of ARVC with normal expression of N-cadherin by immunostaining.6) Moreover, the previous study showed that immunoreactive signals for connexin 43, a gap junction component, as well as plakoglobin, were also disturbed in around 70% of patients with ARVC. 7)However, no report has ...

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A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

Abstract: Routine immunohistochemical analysis of a conventional endomyocardial-biopsy sample appears to be a highly sensitive and specific diagnostic test for ARVC.

Cited by 411 publications

References 22 publications

Recurrent and founder mutations in the Netherlands

Recurrent and founder mutations in the Netherlands

Special issue Heidelberg Heart II: Abstracts of oral and poster presentations

Relationships Between Clinical Characteristics and Decreased Plakoglobin and Connexin 43 Expressions in Myocardial Biopsies From Patients With Arrhythmogenic Right Ventricular Cardiomyopathy

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