scholarly journals Arrhythmogenic Right Ventricular Cardiomyopathy With an Initial Manifestation of Severe Left Ventricular Impairment and Normal Contraction of the Right Ventricle

2000 ◽  
Vol 64 (3) ◽  
pp. 209-213 ◽  
Author(s):  
Hiromasa Suzuki ◽  
Masataka Sumiyoshi ◽  
Sachio Kawai ◽  
Atsutoshi Takagi ◽  
Akiko Wada ◽  
...  
Keyword(s):  
Right Ventricle ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
Initial Manifestation ◽  
Normal Contraction ◽  
The Right

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.

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