Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient

Wang, Weijia; James, Cynthia A.; Calkins, Hugh

doi:10.1093/europace/euy063

Cited by 39 publications

(87 citation statements)

References 143 publications

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“…Mechanical dysfunction and complex tissue responses are discussed as factors determining the disease process [6,8,19,39,44]. Besides symptomatic treatment, a causal therapy is not available to date [64].…”

Section: Introductionmentioning

confidence: 99%

Inflammation shapes pathogenesis of murine arrhythmogenic cardiomyopathy

et al. 2020

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Arrhythmogenic cardiomyopathy (AC) is an incurable genetic disease, whose pathogenesis is poorly understood. AC is characterized by arrhythmia, fibrosis, and cardiodilation that may lead to sudden cardiac death or heart failure. To elucidate AC pathogenesis and to design possible treatment strategies of AC, multiple murine models have been established. Among them, mice carrying desmoglein 2 mutations are particularly valuable given the identification of desmoglein 2 mutations in human AC and the detection of desmoglein 2 auto-antibodies in AC patients. Using two mouse strains producing either a mutant desmoglein 2 or lacking desmoglein 2 in cardiomyocytes, we test the hypothesis that inflammation is a major component of disease pathogenesis. We show that multifocal cardiomyocyte necrosis initiates a neutrophil-dominated inflammatory response, which also involves macrophages and T cells. Increased expression of Ccl2/Ccr2, Ccl3/Ccr5, and Cxcl5/Cxcr2 mRNA reflects the observed immune cell recruitment. During the ensuing acute disease phase, Mmp12 + and Spp1 + macrophages and T cells accumulate in scars, which mature from cell-to collagen-rich. The expression of Cx3cl1/Cx3cr1, Ccl2/Ccr2, and Cxcl10/Cxcr3 dominates this disease phase. We furthermore find that during chronic disease progression macrophages and T cells persist within mature scars and are present in expanding interstitial fibrosis. Ccl12 and Cx3cl1 are predominant chemokines in this disease phase. Together, our observations provide strong evidence that specific immune cell populations and chemokine expression profiles modulate inflammatory and repair processes throughout AC progression.

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Section: Introductionmentioning

confidence: 99%

Inflammation shapes pathogenesis of murine arrhythmogenic cardiomyopathy

et al. 2020

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“…3 Recently, there have been substantial advances in the understanding of its pathogenesis, clinical manifestations and long-term progression. 4…”

Section: Introductionmentioning

confidence: 99%

“…The subsequent finding that the disease is caused by a genetic defect in cardiac desmosomes allowed its description as cardiomyopathy, and its inclusion in the classification of cardiomyopathies by the American Heart Association (AHA). 4 - 7…”

Section: Introductionmentioning

confidence: 99%

Arrythmogenic Right Ventricular Cardiomiopathy/Dysplasia (ARVC/D) - What We Have Learned after 40 Years of the Diagnosis of This Clinical Entity

Neto

Tonet

Frank

et al. 2018

Arquivos Brasileiros De Cardiologia

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) was initially recognized as a clinical entity by Fontaine and Marcus, who evaluated a group of patients with ventricular tachyarrhythmia from a structurally impaired right ventricle (RV). Since then, there have been significant advances in the understanding of the pathophysiology, manifestation and clinical progression, and prognosis of the pathology. The identification of genetic mutations impairing cardiac desmosomes led to the inclusion of this entity in the classification of cardiomyopathies. Classically, ARVC/D is an inherited disease characterized by ventricular arrhythmias, right and / or left ventricular dysfunction; and fibro-fatty substitution of cardiomyocytes; its identification can often be challenging, due to heterogeneous clinical presentation, highly variable intra- and inter-family expressiveness, and incomplete penetrance.In the absence of a gold standard that allows the diagnosis of ARVC/D, several diagnostic categories were combined and recently reviewed for a higher diagnostic sensitivity, without compromising the specificity. The finding that electrical abnormalities, particularly ventricular arrhythmias, usually precede structural abnormalities is extremely important for risk stratification in positive genetic members. Among the complementary exams, cardiac magnetic resonance imaging (CMR) allows the early diagnosis of left ventricular impairment, even before morpho-functional abnormalities. Risk stratification remains a major clinical challenge, and antiarrhythmic drugs, catheter ablation and implantable cardioverter defibrillator are the currently available therapeutic tools. The disqualification of the sport prevents cases of sudden death because the effort can trigger not only the electrical instability, but also the onset and progression of the disease.

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“…Age under 35 years at first symptoms was independently predictor. Survival was 91% at 5 years after transplant [27,28,1] .…”

Section: Classificationmentioning

confidence: 99%

“…It is also known as arrhythmogenic right ventricular cardiomyopathy, right ventricular cardiomyopathy or right ventricular dysplasia. ARVD has a prevalence of 1: 1000-1: 5000 with male predominance [1] . This condition is more commonly found in individuals of Italian and Greek descent.…”

Section: Introductionmentioning

confidence: 99%

Arrhythmogenic Right Ventricular Dysplasia, Did We Know Everything

Kinsara

2018

Journal of Cardiology and Therapy

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Implantable Cardioverter Defibrillator with its own morbidity. Antiarrhythmic drugs eliminate frequent episodes of ventricular tachycardia and defibrilator shocks but is not a curative therapy. There has been a great progress in studying the underlying role of genetics but the field is still wide open. This review will focus on the recent updates in arrhythmogenic right ventricular dysplasia pathology and treatment.

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Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient

Cited by 39 publications

References 143 publications

Inflammation shapes pathogenesis of murine arrhythmogenic cardiomyopathy

Inflammation shapes pathogenesis of murine arrhythmogenic cardiomyopathy

Arrythmogenic Right Ventricular Cardiomiopathy/Dysplasia (ARVC/D) - What We Have Learned after 40 Years of the Diagnosis of This Clinical Entity

Arrhythmogenic Right Ventricular Dysplasia, Did We Know Everything

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