A unique association of arrhythmogenic right ventricular dysplasia and acute myocarditis, as assessed by cardiac MRI: a case report

Ponsiglione, Andrea; Puglia, Marta; Morisco, Carmine; Barbuto, Luigi; Rapacciuolo, Antonio; Santoro, M Giannotti; Spinelli, Letizia; Trimarco, Bruno; Cuocolo, Alberto; Imbriaco, Massimo

doi:10.1186/s12872-016-0412-2

Cited by 17 publications

(9 citation statements)

References 19 publications

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“…A recent published study demonstrated that de novo variants in ARVC are rare . Increasing evidence supports the hypothesis that myocardial injury from myocarditis contributes to the onset of ARVC, and hence, myocarditis may be part of the clinical presentation of ARVC. An inflammatory process secondary to infection or immune mechanism has been postulated to be the trigger for myocardial injury in ARVC, in so called hot phases of the disease.…”

Section: Discussionmentioning

confidence: 85%

“…Despite abnormalities in the right ventricle (RV) being the predominant finding, it has been reported that patients with ARVC may also have left ventricle (LV) involvement, and indeed, severe LV impairment can sometimes be the initial manifestation of the disorder . Inflammatory cell infiltrates have been described in patients with ARVC, and some patients with ARVC present with signs and symptoms accompanied by electrocardiogram (ECG) changes as well as echocardiography (ECHO) and cardiac magnetic resonance (CMR) findings consistent with myocarditis …”

Section: Introductionmentioning

confidence: 99%

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Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

et al. 2020

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Myocarditis most often affects otherwise healthy athletes and is one of the leading causes of sudden death in children and young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder with increased risk for paroxysmal ventricular arrhythmias and sudden cardiac death. The clinical picture of myocarditis and ARVC may overlap during the early stages of cardiomyopathy, which may lead to misdiagnosis. In the literature, we found several cases that presented with episodes of myocarditis and ended up with a diagnosis of arrhythmogenic cardiomyopathy, mostly of the left predominant type. The aim of this case presentation is to shed light upon a possible link between myocarditis, a desmoplakin (DSP) gene variant, and ARVC by describing a case of male monozygotic twins who presented with symptoms and signs of myocarditis at 17 and 18 years of age, respectively. One of them also had a recurrent episode of myocarditis. The twins and their family were extensively examined including electrocardiograms (ECG), biochemistry, multimodal cardiac imaging, myocardial biopsy, genetic analysis, repeated cardiac magnetic resonance (CMR) and echocardiography over time. Both twins presented with chest pain, ECG with slight ST-T elevation, and increased troponin T levels. CMR demonstrated an affected left ventricle with comprehensive inflammatory, subepicardial changes consistent with myocarditis. The right ventricle did not appear to have any abnormalities. Genotype analysis revealed a nonsense heterozygous variant in the desmoplakin (DSP) gene [NM_004415.2:c.2521_2522del (p.Gln841Aspfs*9)] that is considered likely pathogenic and presumably ARVC related. There was no previous family history of heart disease. There might be a common pathophysiology of ARVC, associated with desmosomal dysfunction, and myocarditis. In our case, both twins have an affected left ventricle without any right ventricular involvement, and they are carriers of a novel DSP variant that is likely associated with ARVC. The extensive inflammation of the LV that was apparent in the CMR may or may not be the primary event of ARVC. Nevertheless, our data suggest that irrespective of a possible link here to ARVC, genetic testing for arrhythmogenic cardiomyopathy might be advisable for patients with recurrent myocarditis associated with a family history of myocarditis.

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Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

et al. 2020

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“…The presence of mature fat or “fibro-fatty replacement of myocardium” in endomyocardial biopsies is a hallmark of arrhythmogenic right ventricular cardiomyopathy [ 33 - 35 ]. However, the presence of mature epicardial fat in the endomyocardial biopsy is common.…”

Section: Discussionmentioning

confidence: 99%

Indirect pathological indicators for cardiac sarcoidosis on endomyocardial biopsy

Jin

Seo²,

et al. 2020

J Pathol Transl Med

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Cardiac sarcoidosis is a myocardial inflammatory disease with non-caseating granulomas [1]. Cardiac sarcoidosis may be cardiac involvement of systemic sarcoidosis, although the heart may be the only organ involved. In contrast to pulmonary sarcoidosis, cardiac involvement of sarcoidosis is often associated with fatal outcome because of ventricular arrhythmia and ventricular dysfunction [2,3]. Clinical studies reveal cardiac involvement in 5%-10% of systemic sarcoidosis cases [4] but others suggest this involvement to be very rare (0.7%) [5] or very common (40%) based on symptomology [6]. The incidence in autopsy series was 20% in a 1952 study [7], but recent studies have demonstrated variable incidences of 27% [8], 76% in Caucasian patients [4], and 80% in Japanese patients [9]. This variability in incidence may be real; partly due to racial differences in prevalence and due to the development of diagnostic techniques such as the endobronchial ultrasound or cardiac positron emission tomography (PET) [10]. But it may also be related to the variable application of the current diagnostic criteria [1,11]. With respect to the pathologic diagnosis of cardiac involvement in systemic sarcoidosis, "the presence of non-caseating granuloma on histological examination of myocardial tissue with no alternative cause identified" is the current consensus by the Heart

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“…This is an acute phase, characterized by chest pain, ECG changes of the ventricular repolarization, and an increase in myocardial enzymes. Despite the fact that ARVC is predominantly a genetic disease, a frequent link with an inflammatory process has been demonstrated and myocardial inflammatory infiltrates are frequently detected in patients with ARVC [19]. An etiological role of myocarditis has been supposed, especially in the initial phase of ARVC.…”

Section: From Myocardial Cell Mechanisms To the Ecg Patternmentioning

confidence: 99%

Multiparametric Approach to Arrhythmogenic Cardiomyopathy: Clinical, Instrumental, and Lifestyle Indications

Stefani¹,

Tosi²,

Galanti³

2018

JFMK

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder with an autosomal dominant inheritance and incomplete penetrance. It predominantly affects the right ventricle (RV), predisposing to the origin of ventricular arrhythmias and sudden death (SD). The structural basis of the disease consists of the progressive loss of myocardium with fibro-adipose replacement. ARVC is a "desmosomes" disease involving mutations of proteins such as placoglobin, desmoplachine, placophylline, desmoglein, and desmocollin. In the "classical" form, the disease mainly implicates the RV chamber, while the left ventricle (LV) is involved in advanced stages. Genotype-phenotype correlation studies have identified some phenotypic variants characterized by an early participation of the LV, which can proceed in parallel toward the two ventricles ("biventricular" variant) or prevails over the RV (variant to "left dominance"). These data led to the evolution of the initial definition of ARVC, which is currently considered a genetic disease of both ventricles and, therefore, deserves the denomination "arrhythmogenic cardiomyopathy". Many aspects of diagnosis, treatment, and indications for a correct lifestyle are important in sports medicine. This paper will discuss the clinical management of ARVC, with particular reference to diagnosis, risk stratification, therapy, and indications for physical activity.

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A unique association of arrhythmogenic right ventricular dysplasia and acute myocarditis, as assessed by cardiac MRI: a case report

Cited by 17 publications

References 19 publications

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

Indirect pathological indicators for cardiac sarcoidosis on endomyocardial biopsy

Multiparametric Approach to Arrhythmogenic Cardiomyopathy: Clinical, Instrumental, and Lifestyle Indications

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