scholarly journals Possibly Late-Onset Arrhythmogenic Right Ventricular Cardiomyopathy: Unique Triglyceride Deposition by Analysis of Lipid Contents

2019 ◽  
Vol 12 ◽  
pp. 117954761982871
Author(s):  
Kentaro Yamamoto ◽  
Xin Guo ◽  
Ken-ichi Mizutani ◽  
Nozomu Kurose ◽  
Motona Kumagai ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Late Onset ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Myocardium ◽  
Cholesterol Content ◽  
Left Ventricular ◽  
Left Ventricular Myocardium ◽  
Ventricular Cardiomyopathy ◽  
Lipid Contents ◽  
The Right

We presented an unusual arrhythmogenic right ventricular cardiomyopathy (ARVC) case of a late-60s elderly man’s death, due to severe pericardial/pleural effusion and ascites, and arrhythmic events, with unique pathological features. The hypertrophic heart grossly displayed yellowish to yellow-whitish predominantly in the variably thinned wall of the dilated right ventricle. Microscopic findings showed diffuse fatty/fibrofatty replacement in not only the right but left ventricular myocardium, together with an outer lymphoplasmacytic infiltrate. According to the lipid contents analysis, the triglyceride content, but not the cholesterol content, in our patient’s right and left ventricular cardiac muscle was much higher than that in the control subject. We propose that this unique triglyceride deposition in our possibly late-onset ARVC case might be one of new clues to understand its enigmatic cause. Further prospective studies are needed to validate the presence and significance of a greater volume of triglyceride deposit, after collecting and investigating a larger number of early and late-onset ARVC cases examined.

scholarly journals Arrhythmogenic left ventricular cardiomyopathy

2020 ◽  
Vol 6 (1) ◽  
pp. 20190079
Author(s):  
Seyedeh Mojdeh Mirmomen ◽  
Andrew Jay Bradley ◽  
Andrew Ernest Arai ◽  
Arlene Sirajuddin
Keyword(s):  
Right Ventricular ◽  
Cardiac Death ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Myocardium ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
Cardiotoxic Effect ◽  
Life Threatening ◽  
Muscle Disorder ◽  
The Right

Arrhythmogenic ventricular cardiomyopathy (AVC) is a heritable heart muscle disorder characterized by fibrofatty infiltration of the myocardium. Intramyocardial fat deposition is considered arrhythmogenic and predisposes patients to life-threatening arrhythmias and sudden cardiac death. The classic subtype of AVC is characterized by fibrofatty replacement of the right ventricular myocardium (i.e. arrhythmogenic right ventricular cardiomyopathy). In advanced cases of arrhythmogenic right ventricular cardiomyopathy, the left ventricle may be involved as well. Predominantly left ventricular involvement by AVC is exceedingly rare and lack of specific diagnostic criteria as well as its potential cardiotoxic effect make its diagnosis challenging and of high importance.

Myocyte Transdifferentiation

2000 ◽  
Vol 124 (2) ◽  
pp. 287-290 ◽  
Author(s):  
Giulia d'Amati ◽  
Cira R. T. di Gioia ◽  
Carla Giordano ◽  
Pietro Gallo
Keyword(s):  
Right Ventricular ◽  
Transplant Patient ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Myocardium ◽  
Ventricular Cardiomyopathy ◽  
Familial Dilated Cardiomyopathy ◽  
Familial Cardiomyopathy ◽  
New Type ◽  
The Right ◽  
Gross Examination

Abstract Adipose substitution of ventricular myocardium is characteristic of arrhythmogenic right ventricular cardiomyopathy, but is also found in other heart conditions. It is thought to be a consequence of myocyte loss due to myocarditis or other noxious stimuli. We describe a unique case of cardiomyopathy with a morphologic pattern suggestive of transdifferentiation from myocytes to mature adipocytes. Gross, histologic, and ultrastructural examination were performed on the heart of a female transplant patient with a clinical diagnosis of familial dilated cardiomyopathy. Gross examination showed fibroadipose substitution of the left ventricle and adipose replacement of the right. Histology, immunohistochemistry, and ultrastructure were highly suggestive of transdifferentiation from cardiac muscle to adipose tissue. Myocyte transdifferentiation could represent an alternative pathogenetic pathway to the myocyte-loss and adipose-replacement mechanism in arrhythmogenic right ventricular cardiomyopathy, or it could be the basis of a new type of familial cardiomyopathy.

Arrhythmogenic Right Ventricular Cardiomyopathy with Left Ventricular Involvement: A Novel Splice Site Mutation in the DSG2 Gene

Cardiology ◽  
2015 ◽  
Vol 130 (3) ◽  
pp. 159-161 ◽  
Author(s):  
Marina Pereira Fernandes ◽  
Olga Azevedo ◽  
Vitor Pereira ◽  
Lucy Calvo ◽  
António Lourenço
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Splice Site Mutation ◽  
Left Ventricular ◽  
Transthoracic Echocardiogram ◽  
Ventricular Cardiomyopathy ◽  
Site Mutation ◽  
Electrocardiographic Monitoring ◽  
History Of ◽  
The Right

We report the case of a 37-year-old male patient admitted to the cardiac intensive care unit for acute pulmonary edema. He had a history of excessive alcoholic consumption and had had a viral syndrome in the preceding 10 days. A transthoracic echocardiogram revealed severe biventricular dysfunction, mild dilatation of the left heart chambers, and severe dilatation of the right chambers. Nonsustained ventricular tachycardia with a left bundle branch block morphology was detected during electrocardiographic monitoring. In the follow-up, he underwent a contrast-enhanced transthoracic echocardiogram and a cardiac resonance which were compatible with the diagnosis of arrhythmogenic right ventricular cardiomyopathy with biventricular involvement. Molecular analysis detected the mutation c.1423+2T>G (IVS10 ds +2T>G) in intron 10 of the gene DSG2 (desmoglein-2) in heterozygosity. To our knowledge, this mutation has not been previously described in arrhythmogenic right ventricular cardiomyopathy.

scholarly journals Arrhythmogenic right ventricular cardiomyopathy in a dog : case report

2000 ◽  
Vol 71 (2) ◽  
Author(s):  
A.J. Möhr ◽  
R.M. Kirberger
Keyword(s):  
Heart Failure ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Clinical Signs ◽  
Right Heart Failure ◽  
Ventricular Myocardium ◽  
Left Ventricular ◽  
Ventricular Enlargement ◽  
Ventricular Cardiomyopathy ◽  
Right Heart

An 8-month-old Labrador retriever bitch was evaluated for sudden-onset, progressive abdominal distension. Physical examination revealed an exaggerated inspiratory effort, severe ascites, bilateral jugular vein distension, and hypokinetic femoral arterial pulses. Thoracic auscultation detected tachycardia with muffled heart sounds, without audible cardiac murmurs. Thoracic radiographs identified severe right ventricular enlargement and pleural effusion. The electrocardiogram was consistent with incomplete right bundle branch block or right ventricular enlargement. Echocardiography demonstrated severe right ventricular and atrial dilation, secondary tricuspid regurgitation, and thinning and hypocontractility of the right ventricular myocardium. Left heart chamber sizes were slightly decreased, with normal left ventricular contractility. Adiagnosis of arrhythmogenic right ventricular cardiomyopathy was reached, based on the characteristic clinical, electrocardiographic, radiographic and echocardiographic findings, and the exclusion of other causes of isolated right ventricular failure. Treatment effected good control of clinical signs, until acutely decompensated congestive right heart failure led to euthanasia after 4 months. Arrhythmogenic right ventricular cardiomyopathy is a well-described clinical entity in humans, and has previously been documented in 3 male dogs. The condition is characterised by progressive fibro-adipose replacement of right ventricular myocardium, while the left ventricle usually remains unaffected. It should be considered a differential diagnosis in any young dog presented with isolated right heart failure, syncope, or unexplained ventricular tachyarrhythmias. This article reports the 1st case of arrhythmogenic right ventricular cardiomyopathy in a female dog, and highlights its echocardiographic features.

Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy

2012 ◽  
Vol 44 (1) ◽  
pp. 99-109 ◽  
Author(s):  
Anna Gaertner ◽  
Patrick Schwientek ◽  
Peter Ellinghaus ◽  
Holger Summer ◽  
Stefan Golz ◽  
...  
Keyword(s):  
Gene Expression ◽  
Right Ventricular ◽  
Molecular Mechanisms ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Expression Patterns ◽  
Ventricular Myocardium ◽  
Idiopathic Dilated Cardiomyopathy ◽  
Orthotopic Heart Transplantation ◽  
Ventricular Cardiomyopathy ◽  
The Right

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy primarily of the right ventricle characterized through fibrofatty replacement of cardiomyocytes. The genetic etiology in ARVC patients is most commonly caused by dominant inheritance and high genetic heterogeneity. Though histological examinations of ARVC-affected human myocardium reveals fibrolipomatous replacement, the molecular mechanisms leading to loss of cardiomyocytes are largely unknown. We therefore analyzed the transcriptomes of six ARVC hearts and compared our findings to six nonfailing donor hearts (NF). To characterize the ARVC-specific transcriptome, we compared our findings to samples from seven patients with idiopathic dilated cardiomyopathy (DCM). The myocardial DCM and ARVC samples were prepared from hearts explanted during an orthotopic heart transplantation representing myocardium from end-stage heart failure patients (NYHA IV). From each heart, left (LV) and right ventricular (RV) myocardial samples were analyzed by Affymetrix HG-U133 Plus 2.0 arrays, adding up to six sample groups. Unsupervised cluster analyses of the groups revealed a clear separation of NF and cardiomyopathy samples. However, in contrast to the other samples, the analyses revealed no distinct expression pattern in LV and RV of myocardial ARVC samples. We further identified differentially expressed transcripts using t-tests and found transcripts separating diseased and NF ventricular myocardium. Of note, in failing myocardium only ∼15–16% of the genes are commonly regulated compared with NF samples. In addition both cardiomyopathies are clearly distinct on the transcriptome level. Comparison of the expression patterns between the failing RV and LV using a paired t-test revealed a lack of major differences between LV and RV gene expression in ARVC hearts. Our study is the first analysis of specific ARVC-related RV and LV gene expression patterns in terminal failing human hearts.

scholarly journals Sporadic and rapidly progressive arrhythmogenic right ventricular cardiomyopathy in a 12-year-old boy who was diagnosed with epilepsy

2021 ◽  
Vol 2021 (6) ◽  
Author(s):  
Alaa Al-Khleaf ◽  
Amal Babi ◽  
Mulham Jarjanazi ◽  
Walid Haddad
Keyword(s):  
Right Ventricular ◽  
Genetic Disease ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Myocardium ◽  
Pediatric Emergency ◽  
Rapid Progression ◽  
Ventricular Cardiomyopathy ◽  
Primary And Secondary Prevention ◽  
Potential Risks ◽  
The Right

ABSTRACT Arrhythmogenic right ventricular cardiomyopathy (ARVC) is one of the leading causes of sudden cardiac death amongst young people and athletes. In this genetic disease, arrhythmia and fibro-fatty changes in the right ventricular myocardium are the main characteristics of the disease. Here, we report a case of ARVC in a 12-year-old boy who was previously diagnosed with epilepsy, the patient’s condition manifested sporadically and was complicated by rapid progression, and unfortunate fatal deterioration after admission into the pediatric emergency room due to fatigue, dizziness and palpitation. A diagnosis of ARVC was established, even though a family history was absent. Due to possible rapid deterioration, as described in this case, we recommend immediate primary and secondary prevention of arrhythmias in these patients, and to take in consideration of the potential risks of using sodium valproate in these patients.

scholarly journals Anatomical-MRI Correlations in Adults and Children with Arrhythmogenic Right Ventricular Cardiomyopathy

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1388
Author(s):  
Simona-Sorana Cainap ◽  
Ilana Kovalenko ◽  
Edoardo Bonamano ◽  
Niclas Crousen ◽  
Alexandru Tirpe ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Right Ventricular ◽  
Rare Disease ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Myocardium ◽  
The United States ◽  
Fatty Tissue ◽  
Ventricular Cardiomyopathy ◽  
The Right

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare disease in which the right ventricular myocardium is replaced by islands of fibro-adipose tissue. Therefore, ventricular re-entry circuits can occur, predisposing the patient to ventricular tachyarrhythmias, as well as dilation of the right ventricle that eventually leads to heart failure. Although it is a rare disease with low prevalence in Europe and the United States, many patients are addressed disproportionately for cardiac magnetic resonance imaging (MRI). The most severe consequence of this condition is sudden cardiac death at a young age due to untreated cardiac arrhythmias. The purpose of this paper is to revise the magnetic resonance characteristics of ARVC, including the segmental contraction abnormalities, fatty tissue replacement, decrease of the ejection fraction, and the global RV dilation. Herein, we also present several recent improvements of the 2010 Task Force criteria that are not included within the ARVC diagnosis guidelines. In our opinion, these features will be considered in a future Task Force Consensus.

scholarly journals Two Novel Variants in Genes of Arrhythmogenic Right Ventricular Cardiomyopathy – a Case Report

2021 ◽  
Vol 28 (1) ◽  
pp. 1
Author(s):  
Dovilė Gabartaitė ◽  
Dovilė Jančauskaitė ◽  
Violeta Mikštienė ◽  
Eglė Preikšaitienė ◽  
Rimvydas Norvilas ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Structural Changes ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Right Ventricular Ejection Fraction ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
Ventricular Ejection Fraction ◽  
Variant Of Uncertain Significance ◽  
Novel Variants ◽  
The Right

 Background. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy, characterized by fibrofatty replacement of myocytes in the right ventricular, left ventricular or both ventricles. It is caused by pathogenic variants of genes encoding desmosomal (JUP, DSP, PKP2, DSG2, DSC2) and non-desmosomal proteins, and is one of the most common causes of sudden cardiac death in young athletes. Therefore, early identification, correct prevention and treatment can prevent adverse outcomes.Case report. Our case presents a 65-years-old man with recurrent ventricular tachycardia. The ischemic cause was the first to rule out. Echocardiography revealed right ventricular structural and functional abnormalities. After suspicion of ARVC, magnetic resonance imaging was performed showing reduced right ventricular ejection fraction with local aneurysms, structural changes ir the right and left myocardium. Subsequently performed genetic testing identified a novel ARVC likely pathogenic variant in DSC2 gene and variant of uncertain significance in RYR2 gene.Conclusions. Diagnostic evaluation of ARVC is challenging and requires multidisciplinary team collaboration. Further functional tests for elucidation of the clinical significance of the two novel variants of ARVC-associated genes could be suggested.

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