|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
|
30790397 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PKP2 associate with most cases of gene-positive arrhythmogenic right ventricular cardiomyopathy.
|
31315456 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We identified arrhythmogenic right ventricular cardiomyopathy probands who met 2010 Task Force Criteria and had undergone genotyping that included sequencing of the desmosomal genes (PKP2, DSP, DSG2, DSC2, and JUP) from 3 arrhythmogenic right ventricular cardiomyopathy registries in America and Europe.
|
31386562 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Pathway analysis demonstrated arrhythmogenic right ventricular cardiomyopathy pathway played a critical role in the discrimination of these two subtypes and desmosomal cadherin DSG2, DSP, JUP, and PKP2 in this pathway were overexpression in subtype I compared with subtype II.
|
31347734 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report here a case of newly diagnosed ARVC in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene (PKP2).
|
30782136 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Early and accurate diagnosis can be crucial in effective ARVC management and prevention of SCD.The genome Aggregation Database (gnomAD) population of 138,632 unrelated individuals was searched for previously identified ARVC variants, classified as pathogenic or unknown on the disease genetic variant database ( http://www.arvcdatabase.info/ ), in five most-commonly mutated genes: PKP2, DSP, DSG2, DSC2 and JUP, where variants account for 40-50% of all the ARVC cases.
|
29802319 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.
|
30562116 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Bioinformatic analysis of a plakophilin-2-dependent transcription network: implications for the mechanisms of arrhythmogenic right ventricular cardiomyopathy in humans and in boxer dogs.
|
30476063 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic test was positive in 12 (26%; 95% CI 15.6-40.3) patients; 10 (21.7%) had PKP2 mutation related to arrhythmogenic right ventricular dysplasia mutation, one (2.2%) KCNQ1 mutation and one (2.2%) SCN5A mutation related to channelopathies.
|
29705154 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Mutations in plakophilin-2 (PKP2) are the most common cause of familial Arrhythmogenic Right Ventricular Cardiomyopathy, a disease characterized by ventricular arrhythmias, sudden death, and progressive fibrofatty cardiomyopathy.
|
30568602 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most affected gene mutations in Japanese probands were missense mutations in DSG2 leading to modest outcome, whereas PKP2 truncating mutations were the second most and might be a strong marker for lethal VAs in non-Caucasian Japanese ARVD/C probands.
|
29178656 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.
|
28253841 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
|
28341588 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
Biomarker
|
disease |
BEFREE |
This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients.
|
28431057 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous PKP2 mutations are usually reported in a significant proportion of Arrhythmogenic Right Ventricular Cardiomyopathy cases.
|
27030002 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene.
|
29034900 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
Biomarker
|
disease |
BEFREE |
PKP2 is the most common causal gene for ARVC but has not been implicated in HCM.
|
28253841 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Likely pathogenic variants were found in three ARVC cases (12%) in PKP2, DSC2 or DSP, two DCM cases (20%) in MYH7, and four HCM cases (27%) in MYBPC3 (3) or MYH7 (1).
|
27000522 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.
|
28588093 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.
|
28431057 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
29178656 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The c.2577+1G>T disrupts PKP2 mRNA splicing and causes a nonsyndromic form of ARVD/C.
|
28523642 |
2017 |