Novel and Highly Lethal NKX2.5 Missense Mutation in a Family With Sudden Death and Ventricular Arrhythmia

@article{Perera2014NovelAH,
  title={Novel and Highly Lethal NKX2.5 Missense Mutation in a Family With Sudden Death and Ventricular Arrhythmia},
  author={Jennifer L. Perera and Nicole M. Johnson and D. Judge and J. Crosson},
  journal={Pediatric Cardiology},
  year={2014},
  volume={35},
  pages={1206-1212}
}
To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart diseases (CHDs). The most commonly reported phenotypes are secundum atrial septal defect (ASD) and atrioventricular conduction disease (AVCD). Reports of sudden cardiac death (SCD) have been attributed to progressive conduction disease preventable with pacemaker therapy. A retrospective chart review of individuals from three generations of a… Expand
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References

SHOWING 1-10 OF 22 REFERENCES
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
  • 95
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
  • 89
  • PDF
A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.
  • 64
Functional Characterization of a Novel Mutation in NKX2-5 Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy
  • 67
Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation
  • 42
  • PDF
NKX2.5mutations in patients with congenital heart disease
  • 276
NKX2.5 mutations in patients with congenital heart disease.
  • 316
  • Highly Influential
NKX2.5 Mutations in Patients With Tetralogy of Fallot
  • 191
  • Highly Influential
Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient.
  • 55
Investigation of somatic NKX2-5 mutations in congenital heart disease
  • 62
  • PDF
...
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3
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