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Arrhythmogenic right ventricular cardiomyopathy (ARVC): case report and review of literature.

ABSTRACT: Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited condition characterised by fibrofatty replacement of the right ventricle. It causes sudden death in 30% of young adults and in 5% of those less than 65?years of age. As the presentation is non-specific, ARVD can be a diagnostic challenge leading to delayed treatment. We report a case along with the review of literature, of a 63-year-old man who presented (atypical) with a history of palpitations, dizziness and raised cardiac enzymes associated with ECG changes in the inferior and anterior leads. Further investigation helped in confirming this rare and potentially fatal cardiac condition.

SUBMITTER: Rao U

PROVIDER: S-EPMC4832774 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Arrhythmogenic right ventricular cardiomyopathy (ARVC): case report and review of literature.

Rao Usha U Agarwal S S Gilbert T J TJ

Heart Asia 20141001 1

Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited condition characterised by fibrofatty replacement of the right ventricle. It causes sudden death in 30% of young adults and in 5% of those less than 65 years of age. As the presentation is non-specific, ARVD can be a diagnostic challenge leading to delayed treatment. We report a case along with the review of literature, of a 63-year-old man who presented (atypical) with a history of palpitations, dizziness and raised cardiac enzym ...[more]

PMID: 27326192

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Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy (ARVC)

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Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).

Project description:AimsArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death. Currently 60% of patients meeting Task Force Criteria (TFC) have an identifiable mutation in one of the desmosomal genes. As much overlap is described between other cardiomyopathies and ARVC, we examined the prevalence of rare, possibly pathogenic sarcomere variants in the ARVC population.MethodsOne hundred and thirty-seven (137) individuals meeting 2010 TFC for a diagnosis of ARVC, negative for pathogenic desmosomal variants, TMEM43, SCN5A, and PLN were screened for variants in the sarcomere genes (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2, and TPM1) through either clinical or research genetic testing.ResultsSix probands (6/137, 4%) were found to carry rare variants in the sarcomere genes. These variants have low prevalence in controls, are predicted damaging by Polyphen-2, and some of the variants are known pathogenic hypertrophic cardiomyopathy mutations. Sarcomere variant carriers had a phenotype that did not differ significantly from desmosomal mutation carriers. As most of these probands were the only affected individuals in their families, however, segregation data are noninformative.ConclusionThese data show variants in the sarcomere can be identified in individuals with an ARVC phenotype. Although rare and predicted damaging, proven functional and segregational evidence that these variants can cause ARVC is lacking. Therefore, caution is warranted in interpreting these variants when identified on large next-generation sequencing panels for cardiomyopathies.

| S-EPMC6055742 | biostudies-literature

First Reported Case of Arrhythmogenic Right Ventricular Cardiomyopathy in Oman.

Project description:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic disorder characterized by fatty degeneration of the right ventricular myocardium with variable involvement of the left ventricle. The condition is associated with exercise-mediated ventricular tachycardia and is one of the recognized causes of sudden cardiac death in the young and in athletes. Here, we report the first confirmed case of ARVC in Oman and present its electrocardiographic, echocardiographic features, and radiological findings on gated, contrast-enhanced cardiac computed tomography. Our patient was a 22-year-old male who had presented to our hospital for evaluation and investigation of syncope and symptomatic palpitations.

| S-EPMC5534230 | biostudies-other

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