Literature DB >> 26856793

Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms.

Roberto Barriales-Villa1, Juan Ramón Gimeno-Blanes2, Esther Zorio-Grima3, Tomás Ripoll-Vera4, Artur Evangelista-Masip5, Angel Moya-Mitjans6, Luis Serratosa-Fernández7, Dimpna C Albert-Brotons8, José Manuel García-Pinilla9, Pablo García-Pavía10.   

Abstract

The term inherited cardiovascular disease encompasses a group of cardiovascular diseases (cardiomyopathies, channelopathies, certain aortic diseases, and other syndromes) with a number of common characteristics: they have a genetic basis, a familial presentation, a heterogeneous clinical course, and, finally, can all be associated with sudden cardiac death. The present document summarizes some important concepts related to recent advances in sequencing techniques and understanding of the genetic bases of these diseases. We propose diagnostic algorithms and clinical practice recommendations and discuss controversial aspects of current clinical interest. We highlight the role of multidisciplinary referral units in the diagnosis and treatment of these conditions.
Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

Entities:  

Keywords:  Canalopatías; Cardiomyopathies; Channelopathies; Marfan syndrome; Miocardiopatías; Muerte súbita; Sudden cardiac death; Síndrome de Marfan

Mesh:

Year:  2016        PMID: 26856793     DOI: 10.1016/j.rec.2015.11.029

Source DB:  PubMed          Journal:  Rev Esp Cardiol (Engl Ed)        ISSN: 1885-5857


  9 in total

1.  Set-theory based benchmarking of three different variant callers for targeted sequencing.

Authors:  Jose Arturo Molina-Mora; Mariela Solano-Vargas
Journal:  BMC Bioinformatics       Date:  2021-01-07       Impact factor: 3.169

Review 2.  Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

Authors:  M Alejandra Restrepo-Cordoba; Oscar Campuzano; Tomás Ripoll-Vera; Marta Cobo-Marcos; Irene Mademont-Soler; José M Gámez; Fernando Dominguez; Esther Gonzalez-Lopez; Laura Padron-Barthe; Enrique Lara-Pezzi; Luis Alonso-Pulpon; Ramon Brugada; Pablo Garcia-Pavia
Journal:  J Cardiovasc Transl Res       Date:  2017-01-30       Impact factor: 4.132

3.  The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Authors:  Víctor Manuel Becerra-Muñoz; Juan José Gómez-Doblas; Carlos Porras-Martín; Miguel Such-Martínez; María Generosa Crespo-Leiro; Roberto Barriales-Villa; Eduardo de Teresa-Galván; Manuel Jiménez-Navarro; Fernando Cabrera-Bueno
Journal:  Orphanet J Rare Dis       Date:  2018-01-22       Impact factor: 4.123

Review 4.  Hypertrophic cardiomyopathy with little hypertrophy and severe arrhythmia.

Authors:  Tomas Ripoll-Vera; Jorge Alvarez-Rubio
Journal:  Glob Cardiol Sci Pract       Date:  2018-08-12

Review 5.  Storage diseases with hypertrophic cardiomyopathy phenotype.

Authors:  Luis Ruiz-Guerrero; Roberto Barriales-Villa
Journal:  Glob Cardiol Sci Pract       Date:  2018-08-12

6.  Sudden cardiac death.

Authors:  Joaquín S Lucena
Journal:  Forensic Sci Res       Date:  2019-08-19

7.  Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male.

Authors:  Pilar Molina; Jorge Sanz-Sánchez; Manuel Fenollosa; Marina Martínez-Matilla; Juan Giner; Esther Zorio
Journal:  Forensic Sci Res       Date:  2019-08-19

8.  Prevented Sudden Cardiac Death and Neurologic Recovery in Inherited Heart Diseases.

Authors:  Juan P Hernández Del Rincón; Mari C Olmo Conesa; Ana Rodríguez Serrano; Helena García Pulgar; David López Cuenca; Carmen Muñoz Esparza; Marina Navarro Peñalver; Juan José Santos Mateo; Elisa Nicolás Rocamora; Cristina Gil Ortuño; María Sabater-Molina; Juan Ramón Gimeno Blanes; Francisco Pastor Quirante
Journal:  Front Cardiovasc Med       Date:  2021-03-15

9.  Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7.

Authors:  Guido Antoniutti; Fiama Giuliana Caimi-Martinez; Jorge Álvarez-Rubio; Paula Morlanes-Gracia; Jaume Pons-Llinares; Blanca Rodríguez-Picón; Elena Fortuny-Frau; Laura Torres-Juan; Damian Heine-Suner; Tomas Ripoll-Vera
Journal:  Genes (Basel)       Date:  2022-02-09       Impact factor: 4.096

  9 in total

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