Health-Related Quality of Life Experienced by Children With Chromosomal Abnormalities and Congenital Heart Defects
Pediatric Cardiology (Impact Factor: 1.31). 03/2013; 35(3). DOI: 10.1007/s00246-013-0820-3
Long-term outcomes are fundamental in advising parents about the potential future of their children with congenital heart disease (CHD). No published reports have described the health-related quality of life (HRQL) experienced by children with chromosomal abnormalities who had surgery in early infancy for CHD. A study was undertaken to assess HRQL among children with chromosomal abnormalities and CHD. The authors hypothesized that these children have a worse HRQL than healthy children or a cohort of children matched for CHD diagnosis. Infants with chromosomal abnormalities undergoing cardiac surgery for CHD at 6 weeks of age or younger at the Stollery Children’s Hospital between July 2000 and June 2005 were included in the study. The HRQL of these infants was assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales completed by their parents at a 4-year follow-up evaluation. The study compared the scores for 16 children with normative data. The children with chromosomal abnormalities and CHD had significantly lower mean total PedsQL (71.3 vs. 87.3; p < 0.0001), Psychosocial Summary (70.3 vs. 86.1; p < 0.0001), and Physical Summary (74.3 vs. 89.2; p = 0.0006) scores. Compared with the matched children, those with chromosomal abnormalities had a significantly lower median total PedsQL (75.0 vs. 84.6; p = 0.03), Physical Summary (79.5 vs. 96.9; p = 0.007), and School Functioning (68.5 vs. 83.0; p = 0.03) scores. A better understanding of the mechanisms and determinants of HRQL in these children has the potential to yield important implications for clinical practice including clarity for treatment decision making as well as determination of targeted supports and services to meet the needs of these children and their families differentially.
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ABSTRACT: Currently, in the United States, there are approximately 1 in 150 adults living with congenital heart disease (CHD) (Go et al., 2014). Infant and childhood mortality related to CHD decreased by 31% between 1987 and 2005 (Khairy et al., 2010). This survival trend is predicted to increase each year due to advancements in treatment and management of CHD. This significant shift in the epidemiology of CHD requires nurses to take action in preparing children with CHD and their families for their future. The school-age child is the ideal age for nurses to begin teaching the child about their unique needs as well as how to care for themselves in preparation for the future. The school-age child with CHD has specific physical, intellectual, emotional, and developmental needs that must be considered and managed using a multidisciplinary approach. Pediatric nurses must be aware of these needs as they are in a unique position to help the child and their family seamlessly and successfully transition into young adulthood as a happy and healthy CHD survivor.MCN The American Journal of Maternal/Child Nursing 10/2014; 40(1). DOI:10.1097/NMC.0000000000000092 · 0.90 Impact Factor
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ABSTRACT: 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.Pediatric Cardiology 11/2014; 36(3). DOI:10.1007/s00246-014-1060-x · 1.31 Impact Factor
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ABSTRACT: Congenital heart disease (CHD), the most prevalent birth defect in humans worldwide, is still a leading non‑infectious cause of infant morbidity and mortality. Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of CHD, and more than 50 genes have been linked to various types of CHD. Nevertheless, CHD is a heterogeneous disorder and the genetic components underpinning CHD in an overwhelming majority of cases remain unknown. In the present study, the entire coding exons and flanking introns of the TBX20 gene, which codes for a T-box transcription factor essential for the proper development of the heart, were sequenced in a cohort of 146 unrelated patients with CHD. The available relatives of the index patient harboring an identified mutation and 200 unrelated ethnically matched healthy individuals used as the controls were also genotyped for TBX20. The functional characteristics of the TBX20 mutation were assayed by using a dual-luciferase reporter assay system. As a result, a novel heterozygous TBX20 mutation, p.R143W, was identified in an index patient with double outlet right ventricle (DORV). Genetic analyses of the pedigree of the proband revealed that in the family, the mutation co-segregated with DORV transmitted in an autosomal dominant pattern with complete penetrance. The missense mutation was absent in 400 control chromosomes and the altered amino acid was completely conserved evolutionarily across species. Functional analysis revealed that mutant TBX20 had a significantly diminished transcriptional activity compared with its wild-type counterpart. To the best of our knowledge, this study is the first to report the association of TBX20 loss-of-function mutation with increased susceptibility to DORV in humans, which provides novel insight into the molecular mechanisms responsible for CHD, suggesting potential implications for the antenatal prophylaxis of CHD.International Journal of Molecular Medicine 01/2015; 35(4). DOI:10.3892/ijmm.2015.2077 · 2.09 Impact Factor
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