Literature DB >> 26990921

Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing.

Giulia Poloni1, Marzia De Bortoli, Martina Calore, Alessandra Rampazzo, Alessandra Lorenzon.   

Abstract

Sudden death, ventricular arrhythmia and heart failure are common features in arrhythmogenic right-ventricular cardiomyopathy (ARVC), an inheritable heart muscle disease, characterized by clinical and genetic heterogeneity. So far, 13 disease genes have been identified, responsible for around 60% of all ARVC cases. In this review, we summarize the main clinical and pathological aspects of ARVC, focusing on the importance of the genetic testing and the application of the new sequencing techniques referred to next generation sequencing technology.

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Year:  2016        PMID: 26990921     DOI: 10.2459/JCM.0000000000000385

Source DB:  PubMed          Journal:  J Cardiovasc Med (Hagerstown)        ISSN: 1558-2027            Impact factor:   2.160


  7 in total

1.  GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy.

Authors:  Chiara Volani; Alessandra Pagliaro; Johannes Rainer; Giuseppe Paglia; Benedetta Porro; Ilaria Stadiotti; Luisa Foco; Elisa Cogliati; Adolfo Paolin; Costanza Lagrasta; Caterina Frati; Emilia Corradini; Angela Falco; Theresa Matzinger; Anne Picard; Benedetta Ermon; Silvano Piazza; Marzia De Bortoli; Claudio Tondo; Réginald Philippe; Andrea Medici; Alexandros A Lavdas; Michael J F Blumer; Giulio Pompilio; Elena Sommariva; Peter P Pramstaller; Jakob Troppmair; Viviana Meraviglia; Alessandra Rossini
Journal:  J Cell Mol Med       Date:  2022-06-16       Impact factor: 5.295

Review 2.  Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.

Authors:  Teri A Manolio
Journal:  Atherosclerosis       Date:  2016-08-26       Impact factor: 5.162

Review 3.  Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy.

Authors:  Alessandra Lorenzon; Martina Calore; Giulia Poloni; Leon J De Windt; Paola Braghetta; Alessandra Rampazzo
Journal:  Oncotarget       Date:  2017-04-27

4.  Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.

Authors:  Charlotte L Hall; Henry Sutanto; Chrysoula Dalageorgou; William John McKenna; Petros Syrris; Marta Futema
Journal:  Eur J Hum Genet       Date:  2018-05-25       Impact factor: 4.246

5.  Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.

Authors:  Maria Pia Leone; Pietro Palumbo; Johan Saenen; Sandra Mastroianno; Stefano Castellana; Cesare Amico; Tommaso Mazza; Domenico Rosario Potenza; Antonio Petracca; Marco Castori; Massimo Carella; Giuseppe Di Stolfo
Journal:  Front Cardiovasc Med       Date:  2021-05-20

6.  Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy.

Authors:  Valentina Ferradini; Luca Parca; Annamaria Martino; Chiara Lanzillo; Elisa Silvetti; Leonardo Calò; Stefano Caselli; Giuseppe Novelli; Manuela Helmer-Citterich; Federica Carla Sangiuolo; Ruggiero Mango
Journal:  Genes (Basel)       Date:  2021-05-22       Impact factor: 4.096

Review 7.  Genetic predisposition study of heart failure and its association with cardiomyopathy.

Authors:  Vaishak Kaviarasan; Vajagathali Mohammed; Ramakrishnan Veerabathiran
Journal:  Egypt Heart J       Date:  2022-01-21
  7 in total

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