Association Between Mutations in the NKX2.5 Homeobox, Atrial Septal Defects, Ventricular Noncompaction and Sudden Cardiac Death

Rev Esp Cardiol (Engl Ed). 2018 Jan;71(1):53-55. doi: 10.1016/j.rec.2017.02.032. Epub 2017 Mar 17.

[Article in English, Spanish]

Authors

Julián Palomino Doza¹, Rafael Salguero-Bodes², María de la Parte², Fernando Arribas-Ynsaurriaga²

Affiliations

¹ Unidad de Cardiopatías Familiares, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: [email protected].
² Unidad de Cardiopatías Familiares, Hospital Universitario 12 de Octubre, Madrid, Spain.

PMID: 28330612
DOI: 10.1016/j.rec.2017.02.032

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple*
Adult
DNA / genetics*
DNA Mutational Analysis
Death, Sudden, Cardiac / etiology*
Echocardiography
Electrocardiography, Ambulatory
Fatal Outcome
Female
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / genetics*
Heart Septal Defects, Ventricular / diagnosis
Heart Septal Defects, Ventricular / genetics*
Homeobox Protein Nkx-2.5 / genetics*
Humans
Mutation*
Pedigree

Substances

Homeobox Protein Nkx-2.5
NKX2-5 protein, human
DNA

Supplementary concepts

Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects