A case of arrhythmogenic right ventricular cardiomyopathy with biventricular involvement

We reported a case of a young adult male aged 18 years admitted in our institution for syncope during a basketball match. No previous symptoms were reported. Electrocardiogram (ECG) showed T-wave inversion in the anterior leads and an incomplete right bundle branch block. Surprisingly, a complete echocardiographic evaluation demonstrated the presence of severe right ventricular enlargement with significant wall motion abnormalities, apical aneurysm and reduced systolic function. Cardiac Magnetic Resonance was pathognomonic for a fibro-fatty replacement of both ventricles. We decided for a subcutaneous defibrillator implantation and, after inducing a ventricular fibrillation to test the device status, epsilon wave appeared on the ECG. This clinical scenario depicted an advanced arrhythmogenic right ventricular cardiomyopathy at its first clinical manifestation.

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Abstract 16584: Abnormal Right Ventricular Strain by Cardiac Magnetic Resonance in Preclinical Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation ◽

10.1161/circ.130.suppl_2.16584 ◽

2014 ◽

Vol 130 (suppl_2) ◽

Author(s):

Davis Vigneault ◽

Anneline S te Riele ◽

Cynthia A James ◽

Stefan L Zimmerman ◽

Hugh Calkins ◽

...

Keyword(s):

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Right Ventricular ◽

Feature Tracking ◽

Longitudinal Strain ◽

Wall Motion ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Statistical Significance ◽

Ventricular Cardiomyopathy ◽

Wall Motion Abnormalities

Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by regional wall motion abnormalities of the right ventricle (RV) that have not previously been quantified, resulting in challenges / errors in diagnosis of the disease. RV strain is poorly assessed with tagged cardiac magnetic resonance (CMR) due to the thin RV wall. We applied novel feature tracking analysis to assess RV strain in patients with ARVC. Methods: 106 subjects (30 controls, 37 preclinical ARVC [mutation+], and 39 overt ARVC [mutation+, Task Force+] patients) underwent 4 chamber and axial cine imaging using SSFP sequences. The RV was divided into subtricuspid (ST), anterior wall (AW), and apical (Ap) regions. Each region was analyzed to determine peak longitudinal strain and strain-rate using Multimodality Tissue Tracking (MTT) software (MTT Version 6.0.4725, Toshiba Medical Systems Corporation, Tokyo, Japan). Results: Average age was 33.6 ± 16.1 years (48.2% women); there were no differences between groups. In the 4 chamber view, mean global and segmental strain and strain rates decreased in magnitude from control (-37.7% ± 11.2) to preclinical (-32.2% ± 11.5) to overt ARVC (mean -22.2% ± 11.9). Differences between groups most pronounced in the subtricuspid segment, and reached statistical significance between overt ARVC and both control and preclinical ARVC (p < 0.01). A similar trend was observed in longitudinal strain measured in the axial view, but these trends were inconsistent; statistical significance was met globally, but most individual segments did not reach statistical significance. Conclusions: Longitudinal RV strain as measured by CMR feature tracking in ARVC appears able to quantify wall motion abnormalities in overt ARVC, as well as define subtle abnormalities in patients with preclinical ARVC.

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Letter to the editor re: Echocardiographic assessment of right ventricular systolic function in boxers with arrhythmogenic right ventricular cardiomyopathy

Journal of Veterinary Cardiology ◽

10.1016/j.jvc.2020.03.004 ◽

2020 ◽

Vol 29 ◽

pp. 74-75

Author(s):

M.D. Kittleson

Keyword(s):

Right Ventricular ◽

Systolic Function ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Ventricular Cardiomyopathy ◽

Ventricular Systolic Function ◽

Letter To The Editor ◽

Right Ventricular Systolic Function ◽

Echocardiographic Assessment

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Characteristics of Patients With Arrhythmogenic Left Ventricular Cardiomyopathy

Circulation Arrhythmia and Electrophysiology ◽

10.1161/circep.120.009005 ◽

2020 ◽

Vol 13 (12) ◽

Author(s):

Michela Casella ◽

Alessio Gasperetti ◽

Rita Sicuso ◽

Edoardo Conte ◽

Valentina Catto ◽

...

Keyword(s):

Late Gadolinium Enhancement ◽

Right Ventricular ◽

Genetic Variants ◽

Task Force ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Left Ventricular ◽

Ventricular Cardiomyopathy ◽

Gadolinium Enhancement ◽

Voltage Mapping ◽

Fatty Replacement

Background: Arrhythmogenic left ventricular cardiomyopathy (ALVC) is an under-characterized phenotype of arrhythmogenic cardiomyopathy involving the LV ab initio. ALVC was not included in the 2010 International Task Force Criteria for arrhythmogenic right ventricular cardiomyopathy diagnosis and data regarding this phenotype are scarce. Methods: Clinical characteristics were reported from all consecutive patients diagnosed with ALVC, defined as a LV isolated late gadolinium enhancement and fibro-fatty replacement at cardiac magnetic resonance plus genetic variants associated with arrhythmogenic right ventricular cardiomyopathy and of an endomyocardial biopsy showing fibro-fatty replacement complying with the 2010 International Task Force Criteria in the LV. Results: Twenty-five patients ALVC (53 [48–59] years, 60% male) were enrolled. T wave inversion in infero-lateral and left precordial leads were the most common ECG abnormalities. Overall arrhythmic burden at study inclusion was 56%. Cardiac magnetic resonance showed LV late gadolinium enhancement in the LV lateral and posterior basal segments in all patients. In 72% of the patients an invasive evaluation was performed, in which electroanatomical voltage mapping and electroanatomical voltage mapping-guided endomyocardial biopsy showed low endocardial voltages and fibro-fatty replacement in areas of late gadolinium enhancement presence. Genetic variants in desmosomal genes (desmoplakin and desmoglein-2) were identified in 12/25 of the cohort presenting pathogenic/likely pathogenic variants. A definite/borderline 2010 International Task Force Criteria arrhythmogenic right ventricular cardiomyopathy diagnosis was reached only in 11/25 patients. Conclusions: ALVC presents with a preferential involvement of the lateral and postero-lateral basal LV and is associated mostly with variants in desmoplakin and desmoglein-2 genes. An amendment to the current International Task Force Criteria is reasonable to better diagnose patients with ALVC.

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Author response to letter to the editor re: Echocardiographic assessment of right ventricular systolic function in boxers with arrhythmogenic right ventricular cardiomyopathy

Journal of Veterinary Cardiology ◽

10.1016/j.jvc.2020.03.005 ◽

2020 ◽

Vol 29 ◽

pp. 76-78

Author(s):

S.M. Cunningham

Keyword(s):

Right Ventricular ◽

Systolic Function ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Author Response ◽

Ventricular Cardiomyopathy ◽

Ventricular Systolic Function ◽

Letter To The Editor ◽

Right Ventricular Systolic Function ◽

Echocardiographic Assessment

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Role of ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy

Cardiogenetics ◽

10.4081/cardiogenetics.2017.6882 ◽

2017 ◽

Vol 7 (1) ◽

Author(s):

Alberto Cipriani ◽

Riccardo Bariani ◽

Manuel De Lazzari ◽

Federico Migliore ◽

Carlo Angheben ◽

...

Keyword(s):

Ventricular Tachycardia ◽

Catheter Ablation ◽

Right Ventricular ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Ventricular Cardiomyopathy ◽

Ventricular Tachycardia Ablation ◽

Fatty Replacement ◽

Technical Issues ◽

Long Term Prognosis

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive fibro-fatty replacement of the myocardium that represents the substrate for recurrent sustained ventricular tachycardia (VT). These arrhythmias characterize the clinical course of a sizeable proportion of patients and have significant implications for their quality of life and long-term prognosis. Antiarrhythmic drugs are often poorly tolerated and usually provide incomplete control of arrhythmia relapses. Catheter ablation is a potentially effective strategy to treat frequent VT episodes and ICD shocks in ARVC patients. The aims of this review are to discuss the electrophysiological and electroanatomic substrates of ventricular tachycardia in patients with ARVC and to analyze the role of catheter ablation in their management with particular reference to selection of patients, technical issues, potential complications and outcomes.

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Abstract 5934: Arrhythmogenic Right Ventricular Cardiomyopathy Due to Desmosomal Gene Mutations Is a Progressive Biventricular Disease

Circulation ◽

10.1161/circ.118.suppl_18.s_1033-a ◽

2008 ◽

Vol 118 (suppl_18) ◽

Author(s):

Cristina Basso ◽

Elisa Carturan ◽

Nikos Protonotarios ◽

Barbara Bauce ◽

Alessandra Rampazzo ◽

...

Keyword(s):

Right Ventricular ◽

Arrhythmogenic Right Ventricular Cardiomyopathy ◽

Fatty Infiltration ◽

Gene Mutations ◽

Ventricular Myocardium ◽

Relative Role ◽

Inherited Disease ◽

Ventricular Cardiomyopathy ◽

Pathologic Features ◽

Fatty Replacement

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by a gradual loss of myocytes with fibro-fatty replacement. Mutations of gene encoding desmosomal proteins have been demonstrated in up to 50% of probands. The aim of this study was to assess the morphologic spectrum and the relative role of viruses on genotyped ARVC hearts. Design: Fourteen ARVC hearts (10 M/4 F, age range 7–64, mean 30 yrs), coming from sudden death (8), cardiac transplantation (4), heart failure (1) and extracardiac death (1) were investigated. Familial recurrence of ARVC was ascertained in 12 (86%). Genetic screening identified pathogenetic mutations in plakophilin-2 (5), desmoplakin (4), desmoglein-2 (2) and plakoglobin (3). Five hearts from patients with in ryanodine receptor 2 (Ryr2) gene mutations were also investigated. Morphopathologic investigation consisted of gross examination, histology, immunohistochemistry and molecular pathology (PCR) for cardiotropic viruses. Result: Cardiac involvement was biventricular in all but 1 case, a 7 year old girl who died of extracardiac causes and presented a structurally normal heart. Ventricular myocardium abnormalities consisted of fibro-fatty replacement in 12 cases and of subepicardial myocyte necrosis with acute inflammation and granulation tissue in a 15 year old boy who died suddenly. Inflammatory infiltrates were evident in 93% of cases, either diffuse (23%) or focal (77%), and mostly consisted of T-lymphocytes and macrophages. Molecular investigation was negative in all but one with Hepatitis C virus (7%). Ryr2 gene hearts showed only mild fatty infiltration confined to the antero-apical wall of the right ventricle. Conclusion: ARVC hearts from patients with desmosomal gene mutations are characterized by biventricular myocardial atrophy and fibro-fatty replacement. In early adolescence, the phenotype can be either absent or consistent with acute myocyte damage without fibro-fatty replacement, thus confirming the progressive nature of the disease. While myocarditis is a usual feature, viral genome is exceptionally detected in the myocardium as to support the reactive nature of inflammation. The pathologic features of Ryr2 hearts are not in keeping with ARVC.

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