Novel plakophilin2 mutation: Three-generation family with arrhythmogenic right ventricular cardiomyopathy

Aneq, Meriam Åström; Fluur, Christina; Rehnberg, Malin; Söderkvist, Peter; Engvall, Jan; Nylander, Eva; Gunnarsson, Cecilia

doi:10.3109/14017431.2011.636068

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…Signal averaged ECG showed filtered QRS duration ≥ 114 msec, with normal duration of terminal QRS < 40 µV (≥ 38 msec) and normal root-mean-square voltage of of sustained VT has supported the diagnosis as our patient had already satisfied the definite diagnosis for ARVD. The genetic testing revealed a heterozygous mutation of Plakophillin-2 gene, previously reported in a patient with ARVD and also the most common gene mutation associated with ARVD [9,10].…”

Section: Case Reportmentioning

confidence: 56%

Arrhythmogenic Right Ventricular Dysplasia with Phasic Elevation in Troponin Levels

Bharmanee¹,

Deemah²,

R³

2018

Clin Med Rev Case Rep

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Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by right ventricular structural abnormalities, dysfunction and ventricular tachycardia (VT) secondary to fibrofatty replacement of the myocardium [1]. We report a male teenager with negative family history, presenting with sustained VT after sports practice. He had waxing and waning troponin levels without myocardial ischemia and satisfied the revised task force criteria for diagnosis of ARVD. ARVD needs to be strongly considered in the differential diagnosis of phasic troponin elevation in the absence of myocardial ischemia.

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Section: Case Reportmentioning

confidence: 56%

Arrhythmogenic Right Ventricular Dysplasia with Phasic Elevation in Troponin Levels

Bharmanee¹,

Deemah²,

R³

2018

Clin Med Rev Case Rep

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“…The first variant (p.Trp123Ter) was an AC-associated variant (pathogenic, as reported in the ClinVar database), previously described in a large AC family, in which the authors studied the segregation of the variant in a three generation family pedigree and found three subjects affected by AC who carried the variant. One of the three died at the age of 18 years old, while the other two carriers of the variant were, at that moment, not clinically affected by AC (one was 5 years old at the diagnosis) [9]. The latter (p.Leu255His) is a novel variant, classified as variant of unknown significance (VUS) by the American College of Medical Genetics and Genomics (ACMG) [10].…”

Section: Case Study: Clinical Molecular Biology Investigationmentioning

confidence: 99%

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

Limongelli

Nunziato

Mazzaccara

et al. 2020

Genes

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The purpose of this paper is to present a clinical and laboratory study of a family, in which a 12-year-old boy was examined to assess his health status before starting competitive sports. A variety of clinical and instrumental tests were used to evaluate the status of the heart and its functions. Using Sanger sequencing (SS), we sequenced six related genes to verify suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) hypothesized at the cardiac assessment and, subsequently, by a next-generation sequencing (NGS)-based multi-gene panel for more paramount genetic risk of sudden cardiac death (SCD) assessment. SS revealed two variants in the PKP2 gene, one was inherited from the father and the other from the mother. The analysis on a large panel of genes (n = 138), putatively associated with sudden cardiac death, revealed, in the proband, a third variant in a different gene (DES) that encodes the protein desmin. Our results indicate that: i) NGS revealed a mutational event in a gene not conventionally screened as a first-line test in the presence of clinical suspicion of the arrhythmic disease; ii) a plurality of variants in different genes in the same subject (the proband) may increase the risk of heart disease; iii) in silico analysis with various methodological software and bioinformatic prediction tools indicates that the cumulative effects of the three variants in the same subject constitute an additional risk factor. This case report indicates that more pathogenic variants or likely pathogenic variants can contribute to the clinical phenotype of an individual, thereby contributing to the diagnosis and prognosis of inherited heart diseases.

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Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy

Wei

Lü

et al. 2012

European Heart Journal

194

134

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Novel plakophilin2 mutation: Three-generation family with arrhythmogenic right ventricular cardiomyopathy

Abstract: This new plakophilin mutation demonstrates variable penetrance and phenotypic expression in ARVC, and highlights the need of genetic testing and thorough phenotype examination in ARVC pedigrees.

Cited by 3 publications

References 10 publications

Arrhythmogenic Right Ventricular Dysplasia with Phasic Elevation in Troponin Levels

Arrhythmogenic Right Ventricular Dysplasia with Phasic Elevation in Troponin Levels

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy

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