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
22 Citations
Prevalence and spectrum of NKX2.5 mutations in patients with congenital atrial septal defect and atrioventricular block.
  • 13
TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy.
  • 16
A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy.
  • 22
GATA5 loss-of-function mutation in familial dilated cardiomyopathy.
  • 28
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.
  • 36
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death
  • 13
...
1
2
3
...

References

SHOWING 1-10 OF 22 REFERENCES
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
  • 95
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
NKX2.5 mutations in patients with congenital heart disease.
  • 316
  • Highly Influential
NKX2.5 Mutations in Patients With Tetralogy of Fallot
  • 191
  • Highly Influential
Investigation of somatic NKX2-5 mutations in congenital heart disease
  • 62
  • PDF
...
1
2
3
...