Abstract 17160: Cardiac Sarcoidosis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy Presenting With Syncope

Circulation ◽  
2021 ◽  
Vol 144 (Suppl_2) ◽  
Author(s):  
Ling Kuo ◽  
Wen-Chung Yu ◽  
Yenn-Jiang Lin ◽  
Po-Kuei Hsu ◽  
Satoshi Higa
Keyword(s):  
Right Ventricular ◽  
Cardiac Sarcoidosis ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Interventricular Septum ◽  
Left Ventricular ◽  
Premature Ventricular Complex ◽  
Lung Nodules ◽  
Vascular Bundles ◽  
Ventricular Cardiomyopathy ◽  
Multiple Lung Nodules

A 35-year-old previous healthy man presented with palpitations and nearly syncope. Electrocardiography showed first degree atrioventricular block (PR interval 316 milliseconds) and premature ventricular complex (PVC) possibly originating from right ventricle (RV). The transthoracic echocardiography disclosed dilated RV with preserved right ventricular systolic function with a RV systolic pressure of 33mmHg, and thickened interventricular septum (12.7mm) with normal left ventricular size and function. At this point, the initial diagnosis was arrhythmogenic right ventricular cardiomyopathy (ARVC) with ventricular arrhythmias. The 24-hour Holter study showed 904 monomorphic PVCs and short-run ventricular tachycardia. The chest computed tomography demonstrated dilated RV with scalloping over free wall and multiple lung nodules mainly located in both upper lung fields (Figure A&B). Radiofrequency catheter ablation and implantation of implantable cardioverter defibrillator were suggested under the impression of ARVC. Therefore, he visited our hospital for second opinion. Since the diseased conduction system was unusual in patient with ARVC, CMR imaging was performed which revealed late gadolinium enhancement over both ventricles and basal interventricular septum (Figure C), raising the suspicion of cardiac sarcoidosis. Thereafter, the 18F-fluorodeoxyglucose (FDG)-Positron Emission Tomography study was arranged and showed FDG uptake over basal septum and lateral wall of LV, and multiple lung nodules (Figure D). Endomyocardial biopsy of RV showed myocardial fibrosis without a specific diagnosis. Thoracoscopic wedge resection of the lung nodule was performed, and pathology showed non-necrotizing granulomas distributed along with broncho-vascular bundles and subpleural area. No microorganism could be demonstrated. Sarcoidosis with cardiac and pulmonary involvement was impressed. Further steroid treatment will be initiated.

Left Side Right Ventricular Cardiomyopathy

2002 ◽  
Vol 42 (4) ◽  
pp. 313-317 ◽  
Author(s):  
M Michalodimitrakis ◽  
A Papadomanolakis ◽  
J Stiakakis ◽  
K Kanaki
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Muscle Disease ◽  
Pathologic Examination ◽  
Arrhythmogenic Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
First Case ◽  
Fibrofatty Tissue ◽  
Myocardial Muscle

Arrhythmogenic right ventricular cardiomyopathy or dysplasia, a heart muscle disease of unknown cause, is anatomically characterized by variable replacement of myocardial muscle with adipose or fibroadipose tissue. It is usually considered a selective disorder whereas concomitant left ventricular involvement has been noted in a few cases. Two cases of the disease with evidence of extensive left ventricular involvement at pathologic examination are described. Hearts from two patients who died suddenly showed extensive biventricular infiltration by fibrofatty tissue in the first case and exclusively in the wall of the left ventricle the localization of the fatty and fibrotic lesions. These findings might suggest that the various localizations of the fibroadipose tissue are rather different expressions of the same disease and it is preferable to be termed ‘arrhythmogenic cardiomyopathy’ as other studies also indicate.

Abstract 15314: Left Ventricular Dysfunction in Children and Adolescents With Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Paweena Chungsomprasong ◽  
Robert Hamilton ◽  
Wietske Luining ◽  
Shi-Joon Yoo ◽  
Meena Fatah ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Task Force ◽  
Myocardial Dysfunction ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Myocardial Strain ◽  
Young Patients ◽  
Left Ventricular ◽  
Lv Function ◽  
Ventricular Cardiomyopathy ◽  
End Diastolic Volume

Background: Involvement of the left ventricle (LV) is increasingly recognized in adults with arrhythmogenic right ventricular cardiomyopathy (ARVC) but it is unclear whether LV function is compromised in children with this condition. The aim of this study was examine myocardial contractility in pediatric patients with suspected ARVC. Methods: For this retrospective study, patients with a work-up for ARVC were classified into ‘no’, ‘possible’, ‘borderline’ or ‘definite’ ARVC according to the revised Task Force Criteria (rTFC). Ventricular size and function as well as LV myocardial strain and torsion were measured by cardiac magnetic resonance (CMR). Results: A total of 142 patients were enrolled, of whom 58 (41%) had no, 32 (23%) possible, 29 (20%) borderline and 23 (16%) definite ARVC. The groups were similar in age at CMR. With higher rTFC score, z scores (Z) of right ventricular (RV) ejection fraction (EF) were lower (p<0.001) while z-RV end diastolic volume (EDV) and z-LV EDV were larger (p=0.002 and 0.013, respectively). LV EF did not differ between rTFC categories. Global circumferential strain (GCS) of the LV was lower in patients in higher rTFC categories (p=0.018). Z-LVEDV correlated with z-RVEDV (r2 = 0.69, p<0.001) and z- LVEF correlated with z-RVEF (r2 = 0.55, p <0.001). Z-LVEF and z-RVEF correlated with LV GCS (r2 = 0.48, p<0.001 and r2 = 0.46, p<0.001, respectively) and torsion (r2 = 0.21, p=0.032 for both). Forty-two patients had a follow-up CMR, after a median interval of 2.6 years (0.4- 8.4). The rate of deterioration of LV or RV EF or EDV did not differ between rTFC categories. A more rapid increase of z-RVEDV was associated with a faster decline in z-RVEF (r2 = -0.383, p=0.004) and z-LVEF (r2 = -0.45, p=0.001). A decline of z-LVEF over time correlated with that of z-RVEF (r2 = 0.60, p<0.001) and z-LVEDV increase correlated with z-RVEDV increase (r2 = 0.84, p<0.001). Conclusion: LV myocardial dysfunction is present in young patients with suspected or confirmed ARVC. Quantification of myocardial mechanics with CMR may be a useful tool to detect early LV involvement in ARVC. Progressive LV dysfunction and enlargement appear to parallel those of the RV.

scholarly journals Characteristics of Patients With Arrhythmogenic Left Ventricular Cardiomyopathy

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.

Restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy

2016 ◽  
Author(s):  
Perry Elliott ◽  
Kristina H. Haugaa ◽  
Pio Caso ◽  
Maja Cikes
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Restrictive Cardiomyopathy ◽  
Left Ventricular ◽  
Muscle Disease ◽  
Left Ventricular Volumes ◽  
Ventricular Cardiomyopathy ◽  
Ventricular Wall Thickness ◽  
Muscle Disorder ◽  
Desmosomal Protein

Restrictive cardiomyopathy is a heart muscle disorder characterized by increased myocardial stiffness that results in an abnormally steep rise in intraventricular pressure with small increases in volume in the presence of normal or decreased diastolic left ventricular volumes and normal ventricular wall thickness. The disease may be caused by mutations in a number of genes or myocardial infiltration. Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac muscle disease associated with sudden cardiac death, ventricular arrhythmias, and cardiac failure. It is most frequently caused by mutations in desmosomal protein genes that lead to fibrofatty replacement of cardiomyocytes, right ventricular dilatation, and aneurysm formation.

scholarly journals Integrin β1D Deficiency–Mediated RyR2 Dysfunction Contributes to Catecholamine-Sensitive Ventricular Tachycardia in Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation ◽  
2020 ◽  
Vol 141 (18) ◽  
pp. 1477-1493 ◽  
Author(s):  
Yihui Wang ◽  
Chunyan Li ◽  
Ling Shi ◽  
Xiuyu Chen ◽  
Chen Cui ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Right Ventricular ◽  
Cardiac Death ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Polymorphic Ventricular Tachycardia ◽  
Ventricular Cardiomyopathy ◽  
Open Probability ◽  
Increased Risk

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary heart disease characterized by fatty infiltration, life-threatening arrhythmias, and increased risk of sudden cardiac death. The guideline for management of ARVC in patients is to improve quality of life by reducing arrhythmic symptoms and to prevent sudden cardiac death. However, the mechanism underlying ARVC-associated cardiac arrhythmias remains poorly understood. Methods: Using protein mass spectrometry analyses, we identified that integrin β1 is downregulated in ARVC hearts without changes to Ca 2+ -handling proteins. As adult cardiomyocytes express only the β1D isoform, we generated a cardiac specific β1D knockout mouse model and performed functional imaging and biochemical analyses to determine the consequences of integrin β1D loss on function in the heart in vivo and in vitro. Results: Integrin β1D deficiency and RyR2 Ser-2030 hyperphosphorylation were detected by Western blotting in left ventricular tissues from patients with ARVC but not in patients with ischemic or hypertrophic cardiomyopathy. Using lipid bilayer patch clamp single channel recordings, we found that purified integrin β1D protein could stabilize RyR2 function by decreasing RyR2 open probability, mean open time, and increasing mean close time. Also, β1D knockout mice exhibited normal cardiac function and morphology but presented with catecholamine-sensitive polymorphic ventricular tachycardia, consistent with increased RyR2 Ser-2030 phosphorylation and aberrant Ca 2+ handling in β1D knockout cardiomyocytes. Mechanistically, we revealed that loss of DSP (desmoplakin) induces integrin β1D deficiency in ARVC mediated through an ERK1/2 (extracellular signal–regulated kinase 1 and 2)–fibronectin–ubiquitin/lysosome pathway. Conclusions: Our data suggest that integrin β1D deficiency represents a novel mechanism underlying the increased risk of ventricular arrhythmias in patients with ARVC.

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