Literature DB >> 18691775

Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.

Julie De Backer, Katarina Van Beeumen, Bart Loeys, Mattias Duytschaever.   

Abstract

Familial occurrence of sudden cardiac death (SCD) is related to a variety of clinical conditions, which can be delineated in up to 40% of families through a combination of cardiovascular examination and genetic studies. Patients with Lamin A/C gene mutations are at increased risk for SCD, but "laminopathies" are not included into clinical algorithms of SCD. Here we present a family with SCD in the absence of left ventricular dysfunction, related to a Lamin A/C mutation.

Entities:  

Mesh:

Substances:

Year:  2008        PMID: 18691775     DOI: 10.1016/j.ijcard.2008.06.008

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN: 0167-5273            Impact factor:   4.164


  3 in total

1.  A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.

Authors:  Wenting Chen; Jianhua Huo; Aiqun Ma; Ling Bai; Ping Liu
Journal:  Mol Cell Biochem       Date:  2013-06-22       Impact factor: 3.396

2.  Role of Cdkn2a in the Emery-Dreifuss Muscular Dystrophy Cardiac Phenotype.

Authors:  Gloria Pegoli; Marika Milan; Pierluigi Giuseppe Manti; Andrea Bianchi; Federica Lucini; Philina Santarelli; Claudia Bearzi; Roberto Rizzi; Chiara Lanzuolo
Journal:  Biomolecules       Date:  2021-04-06

3.  Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.

Authors:  Cinzia Forleo; Monica Carmosino; Nicoletta Resta; Alessandra Rampazzo; Rosanna Valecce; Sandro Sorrentino; Massimo Iacoviello; Francesco Pisani; Giuseppe Procino; Andrea Gerbino; Arnaldo Scardapane; Cristiano Simone; Martina Calore; Silvia Torretta; Maria Svelto; Stefano Favale
Journal:  PLoS One       Date:  2015-04-02       Impact factor: 3.240

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.