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 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.

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.

scholarly journals The utility of the 1994 versus the revised 2010 arrhythmogenic right ventricular cardiomyopathy (ARVC) task force diagnostic criteria for identifying mutation-positive probands with ARVC

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
K Lukhna ◽  
S Kraus ◽  
N Ntusi
Keyword(s):  
Right Ventricular ◽  
Task Force ◽  
Diagnostic Yield ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
Significant Difference ◽  
Diagnostic Panel ◽  
The Mean ◽  
The Right

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterised by structural and functional abnormalities of the right ventricle with or without left ventricular involvement. In 1994, Task Force criteria (TFC) were proposed for the diagnosis of ARVC and were found to be highly specific but lacked sensitivity. In 2010, revised TFC were proposed to increase sensitivity and facilitate diagnosis in those with subtle phenotypes. Purpose To compare the utility of the 1994 vs the 2010 TFC for the diagnosis of mutation-positive probands with ARVC in the IMHOTEP (The African Cardiomyopathy and Myocarditis Registry Program) study. Method 162 participants with the suspicion of ARVC were referred between May 2003 and May 2018. After the exclusion of 12 participants lacking sufficient clinical data, 150 cases were reviewed and classified using both 1994 and 2010 TFC by a diagnostic panel in an hospital. Results 82 participants were found to have an alternative diagnosis or insufficient criteria and were excluded. 68 participants were diagnosed with ARVC by the diagnostic panel and included; 14/68 participants with ARVC were found to be mutation-positive. Mutation-positive probands presented at a significantly younger age compared to the mutation-negative group (29±14 years vs 39±13 years, p=0.009), suggesting an earlier onset of ARVC. Common reasons for presentation in the mutation-positive cohort included palpitations (79%) and presyncope (64%), with twice the number of participants presenting with sustained ventricular tachycardia compared to mutation-negative participants (79% vs 47%, p=0.036). The diagnostic yield of the 2010 vs 1994 TFC in participants with ARVC (n=68) revealed more participants with a definite diagnosis (77% vs 69%, p=0.267). A 67% change in diagnosis from 1994 borderline to 2010 definite was observed. Mutation-positive participants had a higher yield for definite ARVC compared to mutation-negative participants (100% vs 86%). When comparing the mean number of task force (TF) major and minor criteria according to mutation status, we found a significant difference in the mean number of 2010 TF major criteria between mutation-positive and mutation-negative groups, even with the exclusion of gene mutation as a criterion (2.50±0.86 vs 1.74±0.85, p=0.005). We assessed each diagnostic modality's contribution to the 2010 TF major criteria in mutation-positive definite participants and found cardiac magnetic resonance contribution statistically significant, p=0.021. Conclusion Mutation-positive ARVC probands were found to be younger, more likely to present with sustained VT, and fulfilled a significantly higher number of 2010 TF major criteria than mutation-negative probands. The evolution in classification between the 2010 and 1994 TFC suggests that reclassifying participants recruited in traditional ARVC registries according to updated criteria is worthwhile. Funding Acknowledgement Type of funding source: None

scholarly journals Clinical Presentation, Cardiac Magnetic Resonance Findings, and Prognosis of Patients with Arrhythmogenic Right Ventricular Cardiomyopathy – An Experience from Pakistan

2020 ◽  
Vol 10 ◽  
pp. 48
Author(s):  
Intisar Ahmed ◽  
Fateh Ali Tipoo
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Family History ◽  
Magnetic Resonance ◽  
Right Ventricular ◽  
Clinical Presentation ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
History Of

Objectives: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart-muscle disease, characterized by fibro-fatty replacement and ventricular arrhythmias, that primarily affects the right ventricle (RV). We aimed to look at the clinical presentation, cardiac magnetic resonance (CMR) imaging findings and prognosis of patients with ARVC in Pakistan. Material and Methods: It is a retrospective observational study, 17 consecutive patients with CMR and other findings consistent with ARVC, were enrolled from 2010 to 2019 at a single center. Results: Out of 17 patients, 12 (70.6%) were male with a mean age of 33.5 ± 17.5 years. Family history of sudden cardiac death was present in 3 (17.7%) patients while one (5.9%) patient had family history of ARVC. Syncope was the first presenting symptom in eight (47.1%) patients. On 12 leads ECG, T wave inversion in precordial leads was found in 6 (35.4%) patients, and epsilon wave was present in only 3 (17.7%) patients. On echocardiogram, 13 (76.5%) patients had dilated RV with reduced systolic function. On CMR, majority of patients (n = 14, 82.4%) were found to have RV dilatation with regional dyskinesia and fatty infiltration, 9 (52.9%) of them had left ventricular involvement also. Follow-up was available for 14 patients (82.4%) with a mean follow-up period of 35.5 ± 19.7 months. Three (21.4%) of them died and 10 (71.4%) got admissions for heart failure during follow-up period. Conclusion: Arrhythmia related events are the main presenting symptoms of ARVC in this region, and left ventricular involvement in ARVC is not rare in this population. The mortality is relatively high, probably due to advanced disease at the time of presentation and less medical facilities available.

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.

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.

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.

Abstract 3003: Programmed Ventricular Stimulation Does Not Predict the Outcome of Patients with Arrhythmogenic Right Ventricular Cardiomyopathy (from DARVIN study)

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Domenico Corrado ◽  
Loira Leoni ◽  
Mark S Link ◽  
Hugh Calkins ◽  
Thomas Wichter ◽  
...  
Keyword(s):  
Sudden Death ◽  
Right Ventricular ◽  
Predictive Value ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Icd Therapy ◽  
Programmed Ventricular Stimulation ◽  
Ventricular Stimulation ◽  
History Of

Background: The Defibrillator in Arrhythmogenic Right Ventricular Cardiomyopathy International (DARVIN) study was a multicenter investigation that enrolled patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) who received an implantable defibrillator (ICD) for either secondary or primary prevention of sudden death. Methods: In this DARVIN substudy, we examined whether programmed ventricular stimulation (PVS) is able to predict the arrhythmic risk in a large cohort of 201 ARVC patients (133 males, 68 females, aged 36 ± 12 years) who received an ICD. Implant indications were a history of cardiac arrest in 13 (6%) patients; sustained ventricular tachycardia (VT) in 82 (41%); syncope in 42 (21%); asymptomatic nonsustained VT in 40 (20%); and a family history of sudden death in 24 (12%). PVS prior to ICD implantation was carried out in 143 of 201 patients (71%). All antiarrhythmic drugs were discontinued ≥ 5 half-lives (≥ 6 weeks for amiodarone) before the study. PVS included a minimum of 2 drive cycles length and up to 3 ventricular extrastimuli while pacing from two right ventricular sites. Results: One hundred-nine patients (76%) were inducible to either sustained VT (patients 70; 64%), with a mean cycle length of 287 ± 66ms (range 220 to 410 ms), or ventricular fibrillation/flutter (VF) (patients 39; 36%). Of 109 patients who were inducible at PVS, 56 (52%) did not experience ICD therapy during a mean follow-up of 47 ± 22 months, whereas 11 of 34 (33%) noninducible patients had appropriate ICD interventions. Overall, the positive predictive value of PVS was 48%, the negative predictive value 67%, and the test accuracy 53%. The incidence of ICD discharges on VF, which in all likelihood would have been fatal in the absence of ICD therapy, did not differ between patients who were and were not inducible at PVS (26 of 109, 24% vs 7 of 34, 21%; p=0.87), regardless of clinical presentation. The type of ventricular arrhythmia inducible at PVS did not predict VF during the follow-up. Conclusions: The presence (or absence) of an inducible arrhythmia on PVS did not correlate with subsequent appropriate ICD interventions, suggesting a limited role for PVS in arrhythmic risk stratification of ARVC patient population. A negative PVS may not indicate better prognosis.

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