scholarly journals Arrhythmogenic right ventricular cardiomyopathy vs. dilated cardiomyopathy: implications for next-generation sequencing and microRNA regulation in appropriate diagnosis—Authors' reply

EP Europace ◽  
2017 ◽  
Vol 20 (4) ◽  
pp. 730-730
Author(s):  
Argelia Medeiros-Domingo
Keyword(s):  
Next Generation Sequencing ◽  
Right Ventricular ◽  
Dilated Cardiomyopathy ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Next Generation ◽  
Ventricular Cardiomyopathy ◽  
Microrna Regulation ◽  
Generation Sequencing

scholarly journals 216-01: Arrhythmogenic Right Ventricular Cardiomyopathy: Implications of Next Generation Sequencing in Appropriate Diagnosis

EP Europace ◽  
2016 ◽  
Vol 18 (suppl_1) ◽  
pp. i141-i141 ◽  
Author(s):  
Argelia Medeiros Domingo ◽  
Ardan Saguner ◽  
Istvan Magyar ◽  
Angela Bahr ◽  
Deniz Akdis ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Next Generation ◽  
Ventricular Cardiomyopathy ◽  
Generation Sequencing

scholarly journals Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis

EP Europace ◽  
2016 ◽  
pp. euw098 ◽  
Author(s):  
Argelia Medeiros-Domingo ◽  
Ardan M. Saguner ◽  
István Magyar ◽  
Angela Bahr ◽  
Deniz Akdis ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Next Generation ◽  
Ventricular Cardiomyopathy ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing Identified Novel Desmoplakin Frame-shift Variant in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy

2019 ◽  
Author(s):  
Xiaoping Lin ◽  
Yuankun Ma ◽  
Zhejun Cai ◽  
Qiyuan Wang ◽  
Lihua Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Fatty Infiltration ◽  
Family Members ◽  
Functional Change ◽  
Next Generation ◽  
Ventricular Cardiomyopathy ◽  
Frame Shift ◽  
Generation Sequencing

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is one of the leading causes for sudden cardiac death (SCD). Recent studies have identified mutations in cardiac desmosomes as key players in the pathogenesis of ARVC. However, the specific etiology in individual families remains largely unknown. Methods A 4-generation family presenting with syncope, lethal ventricular arrhythmia and SCD was recruited. Targeted next generation sequencing (NGS) was performed and validated by Sanger sequencing. Plasmid containing the mutation and wild type (WT) was constructed, western-blot and immunofluorescence were performed to detect the functional change due to the mutation. Results The proband, a 56-year-old female, presented with recurrent palpitation and syncope. An ICD was implanted due to her family history of SCD/ aborted SCD. NGS revealed a novel heterozygous frame-shift variant ( c.832delG ) in Desmoplakin ( DSP ) among 5 family members. The variant led to a frame-shift and a premature termination codon, producing a truncated protein. Cardiac magnetic resonance (CMR) of the family members carrying the same variant shown myocardium thinning and fatty infiltration in the right ventricular, positive bi-ventricular late gadolinium enhancement and severe RV dysfunction, fulfilling the diagnostic criteria of ARVC. HEK293T cells transfected with mutant expressed truncated DSP protein, upregulation of nuclear junction plakoglobin ( PG ) and downregulation of β-catenin, when compared with WT. Conclusion We infer that the novel c.832delG variant in DSP was associated with ARVC in this family, likely through Wnt/β-catenin signaling pathway.

scholarly journals Genomic study of dilated cardiomyopathy in a group of Mexican patients using site‐directed next generation sequencing

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Alessandra Carnevale ◽  
Sandra Rosas‐Madrigal ◽  
Rigoberto Rosendo‐Gutiérrez ◽  
Enrique López‐Mora ◽  
Sandra Romero‐Hidalgo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Dilated Cardiomyopathy ◽  
Next Generation ◽  
Genomic Study ◽  
Generation Sequencing ◽  
Mexican Patients

scholarly journals 56-04: Myocardial expression of non-desmosomal molecules in arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to dilated cardiomyopathy and healthy controls

EP Europace ◽  
2016 ◽  
Vol 18 (suppl_1) ◽  
pp. i32-i32
Author(s):  
Deniz Akdis ◽  
Ardan Saguner ◽  
Argelia Medeiros Domingo ◽  
Enseleit Frank ◽  
Bode Peter ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Dilated Cardiomyopathy ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Healthy Controls ◽  
Ventricular Cardiomyopathy

Heart muscle diseases

2012 ◽  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Right Ventricular ◽  
Dilated Cardiomyopathy ◽  
Fabry Disease ◽  
Heart Muscle ◽  
Cardiac Amyloidosis ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Restrictive Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy

Classification 418Dilated cardiomyopathy 420Dilated cardiomyopathy: treatment 422Hypertrophic cardiomyopathy 424Hypertrophic cardiomyopathy: investigations 428Hypertrophic cardiomyopathy: treatment 430Restrictive cardiomyopathy 432Cardiac amyloidosis 434Cardiac amyloidosis: treatment 436Fabry disease 438Arrhythmogenic right ventricular cardiomyopathy (ARVC) 440ARVC: management 442Left ventricular non-compaction ...

scholarly journals Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and healthy controls

Heart Rhythm ◽  
2016 ◽  
Vol 13 (3) ◽  
pp. 731-741 ◽  
Author(s):  
Deniz Akdis ◽  
Argelia Medeiros-Domingo ◽  
Anna Gaertner-Rommel ◽  
Jeannette I. Kast ◽  
Frank Enseleit ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Dilated Cardiomyopathy ◽  
Expression Profiles ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Healthy Controls ◽  
Ventricular Cardiomyopathy
Sign in / Sign up

Export Citation Format

Share Document