Cardiac autonomic nervous activity in adults with coarctation of the aorta late after repair

Moutafi, Antonia C.; Manis, Georgios; Dellos, Christos; Tousoulis, Dimitrios; Davos, Constantinos H.

doi:10.1016/j.ijcard.2014.03.120

Cited by 5 publications

(1 citation statement)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In contrast, Beekman and colleagues [24] and Millar and colleagues [25] reported decreased heart rate variability and baroreceptor function after repair in their pediatric cohorts. In adults after CoA repair, Moutafi and colleagues [26] found no differences in autonomic activity between patients and controls.…”

Section: Commentmentioning

confidence: 91%

Cardiac Autonomic Nervous System Activity and Cardiac Function in Children After Coarctation Repair

Nederend

Geus

Kroft

et al. 2018

The Annals of Thoracic Surgery

View full text Add to dashboard Cite

show abstract

Section: Commentmentioning

confidence: 91%

Cardiac Autonomic Nervous System Activity and Cardiac Function in Children After Coarctation Repair

Nederend

Geus

Kroft

et al. 2018

The Annals of Thoracic Surgery

View full text Add to dashboard Cite

show abstract

A Novel NKX2.6 Mutation Associated with Congenital Ventricular Septal Defect

et al. 2014

View full text Add to dashboard Cite

Congenital heart disease (CHD) is the most common birth defect and is the most prevalent non-infectious cause of infant death. Aggregating evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous and the genetic determinants for CHD in an overwhelming majority of patients remain unknown. In this study, the coding regions and splice junctions of the NKX2.6 gene, which encodes a homeodomain transcription factor crucial for cardiovascular development, were sequenced in 210 unrelated CHD patients. As a result, a novel heterozygous NKX2.6 mutation, p.K152Q, was identified in an index patient with ventricular septal defect (VSD). Genetic analysis of the proband's available family members showed that the mutation cosegregated with VSD transmitted as an autosomal dominant trait with complete penetrance. The missense mutation was absent in 400 control chromosomes and the altered amino acid was completely conserved evolutionarily across species. Due to unknown transcriptional targets of NKX2.6, the functional characteristics of the identified mutation at transcriptional activity were analyzed by using NKX2.5 as a surrogate. Alignment between human NKX2.6 and NKX2.5 proteins displayed that K152Q-mutant NKX2.6 was equivalent to K158Q-mutant NKX2.5, and introduction of K158Q into NKX2.5 significantly reduced its transcriptional activating function when compared with its wild-type counterpart. This study firstly links NKX2.6 loss-of-function mutation with increased susceptibility to isolated VSD, providing novel insight into the molecular mechanism underpinning VSD and contributing to the development of new preventive and therapeutic strategies for this common form of CHD.

show abstract

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease

et al. 2015

View full text Add to dashboard Cite

Congenital heart disease (CHD) is the most prevalent type of birth defect in humans and is the leading non-infectious cause of infant death worldwide. There is a growing body of evidence demonstrating that genetic defects play an important role in the pathogenesis of CHD. However, CHD is a genetically heterogeneous disease and the genetic basis underpinning CHD in an overwhelming majority of patients remains unclear. In this study, the coding exons and splice junction sites of the TBX1 gene, which encodes a T-box homeodomain transcription factor essential for proper cardiovascular morphogenesis, were sequenced in 230 unrelated children with CHD. The available family members of the index patient carrying an identified mutation and 200 unrelated ethnically matched healthy individuals used as controls were subsequently genotyped for TBX1. The functional effect of the TBX1 mutation was predicted by online program MutationTaster and characterized by using a dual-luciferase reporter assay system. As a result, a novel heterozygous TBX1 mutation, p.Q277X, was identified in an index patient with double outlet right ventricle (DORV) and ventricular septal defect (VSD). Genetic analysis of the proband's available relatives showed that the mutation co-segregated with CHD transmitted in an autosomal dominant pattern with complete penetrance. The nonsense mutation, which was absent in 400 control chromosomes, altered the amino acid that was completely conserved evolutionarily across species and was predicted to be disease-causing by MutationTaster. Biochemical analysis revealed that Q277X-mutant TBX1 lost transcriptional activating function when compared with its wild-type counterpart. This study firstly associates TBX1 loss-of-function mutation with enhanced susceptibility to DORV and VSD in humans, which provides novel insight into the molecular mechanism underlying CHD and suggests potential implications for the development of new preventive and therapeutic strategies for CHD.

show abstract

Cardiac autonomic nervous activity in adults with coarctation of the aorta late after repair

Cited by 5 publications

References 10 publications

Cardiac Autonomic Nervous System Activity and Cardiac Function in Children After Coarctation Repair

Cardiac Autonomic Nervous System Activity and Cardiac Function in Children After Coarctation Repair

A Novel NKX2.6 Mutation Associated with Congenital Ventricular Septal Defect

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease

Contact Info

Product

Resources

About