The ARVD/C Genetic Variants Database: 2014 Update

Lazzarini, Elisabetta; Jongbloed, Jan D. H.; Pilichou, Kalliopi; Thiene, Gaetano; Basso, Cristina; Bikker, Hennie; Charbon, Bart; Swertz, Morris A.; Tintelen, J. Peter van; Zwaag, Paul A. van der

doi:10.1002/humu.22765

Cited by 82 publications

(73 citation statements)

References 58 publications

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“…2015; Lazzarini et al. 2015). Interestingly, we identified only a single HCM patient with a large deletion in MYBPC3 in 708 HCM patients (0.14%), and one PKP2 exon 8 deletion in 90 ARVC patients (1.1%) that was confirmed to segregate with disease in an affected family member.…”

Section: Resultsmentioning

confidence: 99%

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Ceyhan‐Birsoy

Pugh

Bowser

et al. 2015

Molec Gen & Gen Med

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BackgroundDiagnostic testing for genetic cardiomyopathies has undergone dramatic changes in the last decade with next generation sequencing (NGS) expanding the number of genes that can be interrogated simultaneously. Exon resolution copy number analysis is increasingly incorporated into routine diagnostic testing via cytogenomic arrays and more recently via NGS. While NGS is an attractive option for laboratories that have no access to array platforms, its higher false positive rate requires weighing the added cost incurred by orthogonal confirmation against the magnitude of the increase in diagnostic yield. Although copy number variants (CNVs) have been reported in various cardiomyopathy genes, their contribution has not been systematically studied.MethodsWe performed single exon resolution NGS‐based deletion/duplication analysis for up to 46 cardiomyopathy genes in >1400 individuals with cardiomyopathies including HCM, DCM, ARVC, RCM, and LVNC.Results and ConclusionClinically significant deletions and duplications were identified in only 9 of 1425 (0.63%) individuals. The majority of those (6/9) represented intragenic events. We conclude that the added benefit of exon level deletion/duplication analysis is low for currently known cardiomyopathy genes and may not outweigh the increased cost and complexity of incorporating it into routine diagnostic testing for these disorders.

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Section: Resultsmentioning

confidence: 99%

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Ceyhan‐Birsoy

Pugh

Bowser

et al. 2015

Molec Gen & Gen Med

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“…6) [59]. Comprehensive exonic sequence analysis of the known desmosomal AC-related genes currently identifies approximately 50 % of AC probands [60][61][62][63]. The most commonly defective AC gene is PKP2 (10-45 %), followed by DSP (10-15 %), DSG2 (7-10 %) and DSC2, JUP (1-2 %).…”

Section: Ac Genes/mutations and Diagnostic Implicationsmentioning

confidence: 99%

Arrhythmogenic Cardiomyopathy

Pilichou¹,

Basso²,

Corrado³

et al. 2018

Diagnosis and Management of Adult Congenital Heart Disease

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“…16 A pathogenic mutation can be identified in approximately 60% of index cases. 4,5 Comprehensive or targeted screening of the ARVC genes can be useful for patients satisfying TFC and mutation specific screening is recommended for family members after identification of the causative mutation in an index case. 16 Interpretation of ARVC genetic tests should be made by expert centres as judging the pathogenicity of a variant (particularly missense variants) can be challenging.…”

Section: Genetic Testingmentioning

confidence: 99%

“…4,5 Although inheritance is usually autosomal dominant, there is variable penetrance and some affected individuals may demonstrate a mild and even absent phenotype.…”

Section: Introductionmentioning

confidence: 99%

Arrhythmogenic Right Ventricular Cardiomyopathy: From Pathophysiology to Diagnosis and Advances in Management

2017

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Our understanding of arrhythmogenic right ventricular cardiomyopathy (ARVC) has advanced considerably over the past 30-40 years. This is an inherited cardiomyopathy with complicated genetic inheritance and variable penetrance. Desmosomal dysfunction underlies most cases, and appreciating this pathophysiology has contributed to patient management, particularly with respect to exercise restriction to reduce disease progression. The diagnosis is made according to a series of Task Force Criteria, and subsequent management is guided by expert consensus in the absence of comparative data. ARVC is associated with sudden cardiac death (SCD), particularly in young athletic individuals who unknowingly harbour the condition. Risk stratification is important to guide implantable cardioverter-defibrillator use and reduce SCD. Residual gaps in our understanding, particularly surrounding incomplete penetrance, the underlying pathophysiology and risk stratification, are being targeted by collaborative efforts, large registries, prospective studies and translational research.

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The ARVD/C Genetic Variants Database: 2014 Update

Cited by 82 publications

References 58 publications

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Arrhythmogenic Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy: From Pathophysiology to Diagnosis and Advances in Management

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