No description available.

Children with Down Syndrome (DS) experience cognitive delays with language being one of the most impaired domains. Exploring the effects of congenital heart defects (CHD), hospitalization, hearing impairment, and parental concern can provide a more precise view of factors affecting language development. Participants were 49 children with DS, 22 to 54 months of age. Expressive and receptive vocabulary size was obtained using a word count with the MacArthur Communication Development Inventory (MCDI). Medical information was obtained from the child’s medical file. Results showed expressive vocabulary was marginally significantly different between children with DS and no CHD, a CHD that did not require surgery, and a CHD that did require surgery, such that children with a CHD requiring surgery had the smallest vocabulary. Children had significantly more health problems when they had a CHD that required surgery. Expressive and receptive vocabularies were significantly smaller for children with hearing impairment.

Thesis (M.S.)--University of Wisconsin-Madison, 1993. / Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 82-89).

Congenital heart defects (CHD) are structural anomalies affecting the heart, are found in 1% of the population and arise during early stages of embryo development. Without surgical and medical interventions, most of the severe CHD cases would not survive after the first year of life. The improved health care for CHD patients has increased CHD prevalence significantly, and it has been estimated that the population of adults with CHD is growing ~5% per year. Understanding the causes of CHD would greatly help improve our knowledge of the pathophysiology, family counseling and planning and possibly prevention and treatment in the future. The aim of my thesis was to identify novel or known CHD genes enriched for rare coding genetic variants in isolated CHD cases and learn about the relative performance of different study designs. High-throughput next generation sequencing (NGS) was used to sequence all coding genes (whole exome) coupled with various analytical pipelines and tools to identify candidate genes in different family-based study designs. Since there is no general consensus on the underlying genetic model of isolated CHD, I developed a suite of software tools to enable different family-based exome analyses of de novo and inherited variants (chapter 2) and then piloted these tools in several gene discovery projects where the mode of inheritance was already known to identify previously described and novel pathogenic genes, before applying them to an analysis of families with two or more siblings with CHD. Based on the tools developed in chapter 2, I designed a two-stage study to investigate isolated parent-offspring trios with Tetralogy of Fallot (chapter 3). In the first stage, I used whole exome sequence data from 30 trios to identify genes with de novo coding variants. This analysis identified six de novo loss-of-function and 13 de novo missense variants. Only one gene showed recurrent de novo mutations in NOTCH1, a well known CHD gene that has mostly been associated with left ventricle outflow tract malformations (LVOT). Besides NOTCH1, the de novo analysis identified several possibly pathogenic novel genes such as ZMYM2 and ARHGAP35, that harbor de novo loss-of-function variants (frameshift and stop gain, respectively). In the second stage of the study, I designed custom baits to capture 122 candidate genes for additional sequencing using NGS in a larger sample size of 250 parent-offspring trios with isolated Tetralogy of Fallot and identified six de novo variants in four genes, half of them are loss-of-function variants. Both of NOTCH1 and its ligand JAG1 harbor two additional de novo mutations (two stop gains in NOTCH1 and one missense and a splice donor in JAG1). The analysis showed a strongly significant over-representation of de novo loss-of-function variants in NOTCH1 (P=3.8 ×10-9). To assess alternative family-based study design in CHD, I combined the analysis from 13 isolated parent-offspring trios with 112 unrelated index cases of isolated atrioventricular septal defects (AVSD) in chapter 4. Initially, I started with a case/control analysis to test the burden of rare missense variants in cases compared with 5,194 ethnically matching controls and identified the gene NR2F2 (Fisher exact test P=7.7×10-07, odds ratio=54). The de novo analysis in the AVSD trios identified two de novo missense variants in the same gene. NR2F2 encodes a pleiotropic developmental transcription factor, and decreased dosage of NR2F2 in mice has been shown to result in abnormal development of atrioventricular septa. The results from luciferase assays show that all coding sequence variants observed in patients significantly alter the activity of NR2F2 target promoters. My work has identified both known and novel CHD genes enriched for rare coding variants using next-generation sequencing data. I was able to show how using single or combined family-based study designs is an effective approach to study the genetic causes of isolated CHD subtypes. Despite the extreme heterogeneity of CHD, combining NGS data with the proper study design has proved to be an effective approach to identify novel and known CHD genes. Future studies with considerably larger sample sizes are required to yield deeper insights into the genetic causes of isolated CHD.

INTRODUCTION: Congenital Heart Defects are the most common congenital defects in the United States. They affect a significant proportion of all births, and many babies with CCHDs are not expected to survive their first year. While diagnostic and surgical interventions have drastically improved mortality rates, a growing population of adolescent and adult CHD patients continue to face unique developmental, psychological and QoL issues. METHODS: Medical journal articles were utilized to determine the prevalence, mortality rates, survival rates, adverse psychological outcomes, and follow-up rates for CHD patients as they transitioned through adolescence. Most articles came from Pediatrics, The Journal of Pediatrics, and Circulation. RESULTS: From 1980-2005, the prevalence of CHDs in the United States increased, while CHD mortality decreased by nearly half. Over a similar time period, CHD patients were more likely to have poor psychological, behavioral, and QoL outcomes than their healthy peers. Specifically, CHD patients were likely to have developmental disorders, lower QoL, and loss to follow-up when transitioning to adult care providers. CHD patients also demonstrated a poor understanding of their condition, especially with respect to need for follow-up, identifying symptoms of deteriorating heart condition, and the negative effects of smoking, drugs, and alcohol. DISCUSSION: Diagnostic and surgical interventions for CHD patients have led to increased survival. However, many of these interventions occur in the early stages of life, leaving a gap in medical management of CHD patients as they transition through adolescence. This is represented by high attrition rates for those following-up with adult care providers, adverse psychosocial outcomes, and patients’ lack of knowledge about their condition. CHD patients may benefit from more comprehensive, coordinated and formal transition programs that incorporate good social support systems, self-efficacy, and education about their condition.

Akademisk avhandling--Uppsala. / Extra t.p., with thesis statement, inserted. Bibliography: p. 55-60.

Single ventricle heart defects are present in two of every 1000 live births in the US. In this condition the systemic and pulmonary blood flow mix in the functioning ventricle, resulting in insufficient blood oxygenation to sustain life. As part of the palliation of these defects, the staged surgical procedure, known as the Fontan procedure, is performed. Here, the venous returns are directed to the pulmonary arteries, bypassing the right heart and forming the Total Cavopulmonary Connection (TCPC). Even though the palliation improves life expectancy, there are numerous long-term complications that become more prevalent as patients reach adulthood. Many of these complications have been related to the function of the single ventricle circulation, especially to the abnormal TCPC hemodynamics, for which this has been the focus of research throughout the years. Recent progress has been made with the availability of improved medical imaging techniques and computational modeling tools; however, there is limited information on how these evolve in time. In order to improve the Fontan palliation, image-based surgical planning has been used in the most complex cases to prospectively design the TCPC, aiming to improve the hemodynamics. Even though this paradigm has shown promising results, improvement is needed to provide more realistic predictions of the post-operative outcomes. To address this, in this thesis we have developed a novel surgical planning framework that allows us to: (i) model the interaction of the TCPC and global circulation hemodynamics, and (ii) assess the robustness of the surgical option proposed. Here, the single ventricle circulation is modeled using a lumped parameter model, coupled to a computational fluid solver to describe the local TCPC hemodynamics. With this framework, we can predict the immediate post-operative state, model various physiological scenarios, and assess the impact on the local hemodynamics and global circulation. This will allow us to provide information on the effect on the global hemodynamics to the clinical team. In addition to the surgical planning advancements obtained in this thesis, we have performed the largest longitudinal Fontan study to date in which we have evaluated the evolution of the Fontan physiology in time and the effect it has on the energy efficiency of the TCPC. In this thesis, we have studied the short and long-term effects that geometrical and physiological changes have on the Fontan hemodynamics. With this, we have improved the understanding of the Fontan physiology in terms of the short-term effects of Fontan palliation and the long-term deterioration of the changing single ventricle physiology.

Congenital increase in cardiac outflow tract resistance would lead to chronic ventricular pressure overloading, and eventually ventricular hypertrophy and dysfunction. Conventional echocardiographic assessment of global ventricular systolic and diastolic function is far from ideal because of the lack of sensitivity. There is a pressing need in developing a clinical tool to unveil the degree of myocardial dysfunction as well as to monitor the treatment effect in these patients. M-mode and tissue Doppler recordings of the left and right atrioventricular rings' motion in a longitudinal cardiac axis allowed us to assess segmental ventricular function in a more sensitive and specific way. This thesis aimed to assess ventricular long axis function in patients with congenital outflow tract obstructions. It is based on the anatomical observation that a major part of long axis function is subtended by subendocardial fibers, and the hypothesis that the function of these fibers might be more sensitive to effect of pressure overload than circumferential ones. / Normal values for left and right ventricular (RV) long axis function (in left, septal and tricuspid sites of atrioventricular rings) were first established by studying normal healthy volunteers without cardiovascular diseases with M-mode and pulse wave (PW) tissue Doppler Imaging (TDI). These values included: / 1) M-mode derived systolic amplitude of motion (displacement) / 2) Any long axis incoordination (long axis shortening after end of ejection which was reported as a sign of coronary ischemia after excluding interventricular conduction abnormalities) / 3) TDI-derived peak systolic and diastolic velocities. / The following groups of patients with congenital outflow tract obstructions were therefore studied: / 1) Congenital aortic valve stenosis and subaortic stenosis (21 patients, study 1). / 2) Congenital coarctation of aorta (23 patients, study 2). / 3) Congenital pulmonary valve stenosis (43 patients, study 3). / Study 1 investigated the presence of "isolated" diastolic disease, defined as reduced long axis early diastolic velocity with normal systolic velocity in 21 young patients with congenital aortic valve stenosis (AVS). Most patients with normal left ventricular (LV) ejection fractions in fact had depressed long axis systolic velocities. This work demonstrated the selective sensitivity of long axis function in unveiling myocardial dysfunction in AVS patients. Moreover, good correlation was found between long axis systolic and diastolic velocities which suggested isolated diastolic disease is unlikely. / Patients with coarctation of aorta (CoA) are often less symptomatic (fewer reported chest pain or heart failure) that AVS patients despite having similar degree of outflow resistance. Study 2 addressed such phenomenon by studying the long axis function in 23 CoA patients and the results were compared to 23 AVS patients and normal controls. This work again confirmed the presence of LV long axis impairment in patients with chronic increase in LV afterload. Moreover, a worse deterioration of LV long axis function and a higher prevalence of long axis incoordination independent of LV outflow resistance is seen in patients with proximally increased LV afterload (AVS) compared with distal disease (CoA) that might account for their difference in clinical behavior. / Data are scant to address the impact of chronic increase in RV outflow resistance on RV diastolic performance. Study 3 evaluated the relationship of restrictive RV physiology (defined as the presence of antegrade pulmonary arterial flow in late diastole measured by conventional PW Doppler echocardiography) to RV long axis function and patients' symptoms in 43 patients with pulmonary valve stenosis (PVS). Restrictive RV physiology was found in 42% studied patients who were more symptomatic and had more severe RV long axis dysfunction. This work implied regular follow-up of adult PVS patients using simple qualitative RV Doppler echocardiographic measurements should guide toward early identification of myocardial dysfunction and the need for removal of outflow tract obstruction before irreversible damage occurs. / Given the selective sensitivity of long axis function in assessing myocardial damage In patients with pressure overloaded ventricle, I further studied the effect of interventions on change of long axis behavior in patients with CoA: / 1) Before and 14 month after successful endovascular stenting (21 patients, study 4). / 2) Long term follow up after surgical correction, by either angioplasty or endovascular stenting (80 patients, study 5). / Study 4 prospectively evaluated the effect of endovascular stenting on intermediate-term biventricular function in 21 adults with CoA and the results were compared with surgically repaired patients and normal controls. LV long axis disturbances were improved with sparing of RV long axis function after intervention. Subclinical myocardial dysfunction was observed in both stented and repaired patients compared with normal controls. This work supported aortic stenting in patients with anatomically suitable lesions. It also prompted further studies on the clinical significance of persistent myocardial dysfunction in "corrected" CoA patients. / In study 5, I went on to examine the prevalence of LV long axis diastole dysfunction (defined as septal PW TDI early diastolic velocity 8cm/s) in a relatively large cohort of CoA patients (n=80) and its relationships to patient demo graphics and aortic elastic properties. Forty-seven patients (59%) were found to have LV long axis dysfunction. As a group, they were older when received treatment and had higher ascending aortic stiffness indices despite similar systemic blood pressure, prevalence of anti-hypertensive use and associated bicuspid aortic valve as compared to other CoA patients. This work addressed the age at intervention and increased aortic stiffness are important determinants of persistent myocardial dysfunction after intervention. Intervention at an early age before structural damage to proximal aorta and appropriate medications to reduce central aortic stiffness might preserve LV long axis function in "corrected" CoA patients and further improve their long term prognosis. / CONCLUSIONS: / In conclusion, conventional global echocardiographic assessment is inadequate for assessing patients with congenital outflow tract obstructions. Segmental ventricular long axis function is frequently abnormal at rest in these patients. The site of these disturbances corresponds to the ventricle that is subjected to pressure overloading. Assessment of long axis function is simple and sensitive. It has considerable potential in investigating the natural course of myocardial damage, to clarify the basis of abnormal ventricular function, particularly during diastole and to evaluate treatment effect on myocardial recovery in patients with congenital outflow tract obstructions. Further studies should focus on the role of long axis function in determining prognosis for these patients. / Lam, Yat Yin. / "November 2011." / Thesis (M.D.)--Chinese University of Hong Kong, 2012. / Includes bibliographical references (leaves 134-160). / ABSTRACT --- p.1 / Chapter PART1 --- HISTORIC REVIEW --- p.5 / Chapter Chapter1 --- VENTRICULAR OUTFLOW TRACT OBSTRUCTION SYNDROME --- p. 6 / Chapter 1.1 --- BACKGROUND --- p.7 / Chapter 1.2 --- AORTIC VALVULAR STENOSIS --- p.8 / Chapter 1.2.1 --- Anatomy pathophysiology and clinical features --- p.8 / Chapter 1.2.2 --- Investigations --- p.9 / Chapter 1.2.3 --- Treatment --- p.9 / Chapter 1.3 --- COARCTATION OF AORTA --- p.9 / Chapter 1.3.1 --- Anatomy pathophysiology and clinical features --- p.9 / Chapter 1.3.2 --- Investigations --- p.11 / Chapter 1.3.3 --- Treatment --- p.11 / Chapter 1.4 --- PULMONARY VALVULAR STENOSIS --- p.12 / Chapter 1.4.1 --- Anatomy pathophysiology and clinical features --- p.12 / Chapter 1.4.2 --- Investigations --- p.13 / Chapter 1.4.3 --- Treatment --- p.13 / Chapter Chapter2 --- VENTRICULAR RESPONSE TO HIGH AFTERLOAD --- p.14 / Chapter 2.1 --- VENTRICULAR ADAPTATION IN AORTIC VALVULAR STENOSIS --- p.15 / Chapter 2.2 --- VASCULAR STIFFENING AORTIC COARCTATION --- p.17 / Chapter 2.3 --- VENTRICULAR ADAPTATION IN PULMONARY VALVULAR STENOSIS --- p.18 / Chapter 2.4 --- LIMITATIONS OF CONVENTIONAL ECHOCARDIOGRAPHY --- p.19 / Chapter Chapter3 --- MYOCARDIAL FIBER ARCHITECTURE AND LONG AXIS FUNCTION --- p.21 / Chapter 3.1 --- MYOCARDIAL FIBER STRUCTURE AND LONG AXIS FUNCTION --- p.22 / Chapter 3.2 --- NOMRAL LONG AXIS EXCURSION AND TIMING --- p.25 / Chapter 3.3 --- QUANTIFICATION OF LONG AXIS MOTIONS --- p.26 / Chapter 3.3.1 --- M-mode --- p.26 / Chapter 3.3.2 --- Clinical applications of atrio-ventricular plane displacement --- p.27 / Chapter 3.3.3 --- Tissue Doppler Imaging --- p.28 / Chapter 3.3.4 --- Clinical application of tissue Doppler imaging --- p.30 / Chapter 3.3.5 --- Limitations of M-mode and TDI in the assessment of long axis function --- p.31 / Chapter Chapter4 --- HYPOTHESIS AND SPECIFIC OBJECTIVES OF THE THESIS --- p.32 / Chapter 4.1 --- INTRODUCTION --- p.33 / Chapter 4.2 --- HYPOTHESIS --- p.34 / Chapter Chapter5 --- METHODOLOGY --- p.35 / Chapter 5.1 --- STUDY PATIENTS --- p.36 / Chapter 5.1.1 --- Patients with ventricular outflow tract obstruction --- p.36 / Chapter 5.1.2 --- Normal controls --- p.36 / Chapter 5.2 --- CLINICAL ASSESSMENT --- p.37 / Chapter 5.3 --- ECHO CARDIOGRAPHIC ASSESSMENT --- p.37 / Chapter 5.3.1 --- Imaging acquisition protocol --- p.37 / Chapter 5.3.2 --- Assessment of severity of outflow tract obstruction --- p.38 / Chapter 5.3.3 --- Assessment of global ventricular structure and function --- p.40 / Chapter 5.3.4 --- Assessment of long axis function --- p.42 / Chapter 5.3.5 --- Evaluation of restrictive RV physiology in PVS patients --- p.42 / Chapter 5.3.6 --- Determination of aortic elastic properties in CoA patients --- p.43 / Chapter 5.3.7 --- Reproducibility --- p.45 / Chapter 5.4 --- CARDIAC CATHETERIZATON AND ENDOVASCULAR STENTING FOR COARCTATION OF AORTA --- p.45 / Chapter 5.5 --- STATISTICS --- p.46 / Chapter PART 2 --- CLINICAL STUDIES --- p.48 / Chapter Chapter6 --- "ISOLATED" DIASTOLIC DYSFUNCTION IN LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION --- p.49 / Chapter 6.1 --- INTRODUCTION --- p.50 / Chapter 6.2 --- METHODS --- p.50 / Chapter 6.2.1 --- Study population --- p.50 / Chapter 6.2.2 --- Echocardiographic examination --- p.51 / Chapter 6.2.3 --- Reproducibility --- p.51 / Chapter 6.2.4 --- Statistics --- p.51 / Chapter 6.3 --- RESULTS --- p.52 / Chapter 6.3.1 --- Baseline characteristics --- p.52 / Chapter 6.3.2 --- Echocardiographic measurements --- p.52 / Chapter 6.3.3 --- Correlation analysis between long axis variables --- p.55 / Chapter 6.3.4 --- Reproduci bility --- p.58 / Chapter 6.4 --- DISCUSSION --- p.58 / Chapter 6.4.1 --- Selective sensitivity oflong axis function --- p.58 / Chapter 6.4.2 --- Close coupling of long axis systolic and diastolic function --- p.59 / Chapter 6.4.3 --- Limitations --- p.60 / Chapter 6.5 --- CONCLUSIONS --- p.61 / Chapter Chapter7 --- EFFECT OF CHRONIC AFTERLOAD INCREASE ON LEFT VENTRICULAR MYOCARDIAL FUNCTION IN PATIENTS WITH CONGENITAL LEFT-SIDED OBSTRUCTIVE LESIONS --- p.62 / Chapter 7.1 --- INTRODUCTION --- p.63 / Chapter 7.2 --- METHODS --- p.63 / Chapter 7.2.1 --- Study population --- p.63 / Chapter 7.2.2 --- Echocardiographic examination --- p.64 / Chapter 7.2.3 --- Reproducibility --- p.65 / Chapter 7.2.4 --- Statistics --- p.65 / Chapter 7.3 --- RESULTS --- p.66 / Chapter 7.3.1 --- Baseline characteristics --- p.66 / Chapter 7.3.2 --- Patients versus controls --- p.66 / Chapter 7.3.3 --- Aortic valvular stenosis versus coarctation patients --- p.70 / Chapter 7.3.4 --- Reproducibility --- p.70 / Chapter 7.4 --- DISCUSSION --- p.72 / Chapter 7.4.1 --- Long axis function in patients with increased LV afterload --- p.72 / Chapter 7.4.2 --- Difference between aortic valvular stenosis and coarctation patients --- p.72 / Chapter 7.4.3 --- Limitations --- p.74 / Chapter 7.5 --- CONCLUSIONS --- p.74 / Chapter Chapter8 --- RESTRICTIVE RIGHT VENTRICULAR PHYSIOLOGY: ITS PRESENCE AND SYMPTOMATIC CONTRIBUTION IN PATIENTS WITH PULMONARY STENOSIS --- p.75 / Chapter 8.1 --- INTRODUCTION --- p.76 / Chapter 8.2 --- METHODS --- p.77 / Chapter 8.2.1 --- Study population --- p.77 / Chapter 8.2.2 --- Echocardiographic examination --- p.77 / Chapter 8.2.3 --- Reproducibility --- p.78 / Chapter 8.2.4 --- Statistics --- p.78 / Chapter 8.3 --- RESULTS --- p.79 / Chapter 8.3.1 --- Baseline characteristics --- p.79 / Chapter 8.3.2 --- Patients versus controls --- p.81 / Chapter 8.3.3 --- Comparison between patient groups --- p.81 / Chapter 8.3.4 --- Predictors for symptoms --- p.84 / Chapter 8.3.5 --- Reproducibility --- p.85 / Chapter 8.4 --- DISCUSSION --- p.85 / Chapter 8.4.1 --- Main findings --- p.85 / Chapter 8.4.2 --- Characterization of diastolic performance in pulmonary valvuar stenosis patients --- p.85 / Chapter 8.4.3 --- Mechanism for restrictive RV physiology in PVS patients --- p.87 / Chapter 8.4.4 --- Study inlplications --- p.89 / Chapter 8.4.5 --- Limitations --- p.90 / Chapter 8.5 --- CONCLUSIONS --- p.90 / Chapter Chapter9 --- EFFECT OF ENDOVASCULAR STENTING OF AORTIC COARCTATION ON BIVENTRlCULAR FUNCTION IN ADULTS --- p.91 / Chapter 9.1 --- INTRODUCTION --- p.92 / Chapter 9.2 --- METHODS --- p.92 / Chapter 9.2.1 --- Study population --- p.92 / Chapter 9.2.2 --- Implantation procedure --- p.93 / Chapter 9.2.3 --- Echocardiographic examination --- p.94 / Chapter 9.2.4 --- Reproducibility --- p.94 / Chapter 9.2.5 --- Statistics --- p.95 / Chapter 9.3 --- RESULTS --- p.95 / Chapter 9.3.1 --- Baseline characteristics --- p.95 / Chapter 9.3.2 --- Blood pressure data --- p.96 / Chapter 9.3.3 --- Echocardiographic measurements --- p.97 / Chapter 9.3.3.1 --- Pre-stenting versus post-stenting (group 1) --- p.97 / Chapter 9.3.3.2 --- Stenting (group 1) versus post-surgical repair (group 2) --- p.101 / Chapter 9.3.3.3 --- Coarctation patients (group 1 post-stenting and group 2) versus control (group 3) --- p.101 / Chapter 9.3.4 --- Reproducibility --- p.101 / Chapter 9.4 --- DISCUSSION --- p.103 / Chapter 9.4.1 --- Main findings --- p.103 / Chapter 9.4.2 --- Potential impact of stenting on cardiovascular outcome --- p.103 / Chapter 9.4.2.1 --- BP control --- p.103 / Chapter 9.4.2.2 --- LV mass and long axis function --- p.104 / Chapter 9.4.3 --- RV function after stenting --- p.105 / Chapter 9.4.4 --- Subclinical LV myocardial function in coarctation patients --- p.105 / Chapter 9.4.5 --- Limitations --- p.106 / Chapter 9.5 --- CONCLUSIONS --- p.107 / Chapter Chapter10 --- LEFT VENTRICULAR LONG AXIS DYSFUNCTION IN ADULTS WITH "CORRECTED" AORTIC COARCTATION IS RELATED TO AN OLDER AGE AT INTERVENTION AND INCREASED AORTIC STIFFNESS --- p.108 / Chapter 10.1 --- INTRODUCTION --- p.109 / Chapter 10.2 --- METHODS --- p.110 / Chapter 10.2.1 --- Study population --- p.110 / Chapter 10.2.2 --- Echocardiographic examination --- p.111 / Chapter 10.2.3 --- Reproducibility --- p.111 / Chapter 10.2.4 --- Statistics --- p.112 / Chapter 10.3 --- RESULTS --- p.112 / Chapter 10.3.1 --- Patients versus controls --- p.112 / Chapter 10.3.2 --- Patients with long axis dysfunction (LAD) versus without LAD --- p.113 / Chapter 10.3.3 --- Predictors of LAD --- p.117 / Chapter 10.3.4 --- Reproducibility --- p.120 / Chapter 10.4 --- DISCUSSION --- p.120 / Chapter 10.4.1 --- Main findings --- p.120 / Chapter 10.4.2 --- LV dysfunction and adverse remodeling in "corrected" aortic coarctation --- p.120 / Chapter 10.4.3 --- Mechanism behind LV dysfunction in "corrected" aortic coarctation --- p.121 / Chapter 10.4.4 --- Study implications --- p.124 / Chapter 10.4.5 --- Limitations --- p.124 / Chapter 10.5 --- CONCLUSIONS --- p.125 / Chapter Chapter 11 --- DISCUSSION --- p.126 / Chapter 11.1 --- DISCUSSION --- p.127 / Chapter 11.2 --- LIMITATIONS --- p.129 / Chapter 11.3 --- THE FUTURE --- p.129 / Chapter Chapter12 --- CONCLUSIONS --- p.131 / APPENDIX --- p.133 / BIBLIOGRAPHY --- p.134

CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior / Estudos que abordem a acurÃcia das caracterÃsticas definidoras (CD) podem contribuir para o aprimoramento do raciocÃnio clÃnico, conduzindo, por conseguinte, a formulaÃÃo de diagnÃsticos de enfermagem mais condizentes com a situaÃÃo clÃnica do paciente. Diante do exposto, o estudo teve como objetivo determinar as medidas de acurÃcia das CD do diagnÃstico de enfermagem PadrÃo respiratÃrio ineficaz (PRI) em crianÃas e adolescentes com cardiopatias congÃnitas (CC). A amostra incluiu 61 crianÃas e adolescentes com idade de 5 a 17 anos, diagnosticados com CC. Estes indivÃduos foram examinados pela pesquisadora, que realizou um exame fÃsico, enfocando a avaliaÃÃo respiratÃria. Em seguida, o mÃdico que atendia o paciente foi consultado para autorizar a realizaÃÃo dos testes de funÃÃo pulmonar (espirometria e manovacuometria). As informaÃÃes obtidas a partir do exame fÃsico e realizaÃÃo dos testes foram analisadas pela pesquisadora para determinar a presenÃa ou ausÃncia das CD de PRI, com base em um protocolo previamente estabelecido. Ressalta-se que 30 crianÃas e adolescentes nÃo receberam anuÃncia mÃdica para realizar os testes de funÃÃo pulmonar. Apesar disto, estes sujeitos foram incluÃdos na amostra para determinaÃÃo do diagnÃstico apenas com base nas CD provenientes da entrevista e do exame fÃsico. Com isto, duas subamostras foram formadas, sendo a primeira composta por 30 crianÃas e adolescentes que nÃo realizaram os referidos testes, e a segunda por 31 indivÃduos que realizaram tais exames. O conjunto de CD para cada crianÃa e adolescente foi organizado em 92 planilhas. Nestas, foi assinalada a presenÃa ou ausÃncia da CD. Cada avaliaÃÃo dos indivÃduos da segunda subamostra deu origem a duas planilhas, uma apenas com as CD provenientes da entrevista e exame clÃnico, e outra com estes mesmos dados acrescidos Ãs informaÃÃes dos testes de funÃÃo pulmonar. Tais planilhas foram submetidas a dois enfermeiros diagnosticadores que determinaram a ocorrÃncia de PRI. A anÃlise das inferÃncias e as informaÃÃes sobre a ocorrÃncia das CD possibilitaram a estimativa das medidas de acurÃcia. Para a primeira subamostra, a caracterÃstica que evidenciou melhores medidas de acurÃcia foi taquipneia. As inferÃncias realizadas para a segunda subamostra, com base nos dados clÃnicos e de entrevista, apresentaram como principais CD: ortopneia e uso da musculatura acessÃria para respirar. Quando os resultados dos testes de funÃÃo pulmonar foram acrescidos, as inferÃncias dos diagnosticadores nÃo evidenciaram medidas de acurÃcia com significÃncia estatÃstica para nenhuma das CD. Com isto, os resultados do presente estudo levantam questionamentos acerca da importÃncia dos testes de funÃÃo pulmonar para a inferÃncia do diagnÃstico PRI. Ademais, algumas caracterÃsticas nÃo mostraram legitimidade para PRI, a saber: assumir uma posiÃÃo de trÃs pontos, bradipneia, diÃmetro Ãntero-posterior aumentado, capacidade vital diminuÃda, pressÃo expiratÃria diminuÃda e ventilaÃÃo-minuto diminuÃda. Assim, acredita-se que novas pesquisas sÃo necessÃrias tanto para confirmar estes achados, como para esclarecer a relaÃÃo de tais CD com o diagnÃstico em questÃo. As medidas de acurÃcia obtidas ajudaram a identificar quais CD sÃo mais representativas de PRI. AlÃm disto, os resultados possibilitaram reconhecer quais caracterÃsticas sÃo menos utilizadas durante a inferÃncia deste diagnÃstico em crianÃas e adolescentes com cardiopatias congÃnitas. / Studies which address the accuracy of the defining characteristics (DC) may contribute to the improvement of diagnostic reasoning, leading to the formulation of nursing diagnoses which are more consistent with the clinical situation of the patient. Thus, the study aimed to estimate the measures of accuracy of the DC of the nursing diagnosis Ineffective breathing pattern (IBP) in children and adolescents with congenital heart disease (CHD). The sample included 61 children and adolescents aged 5-17 years, diagnosed with CHD. These patients were examined by the researcher, who conducted a physical examination, focusing on the respiratory evaluation. Then the doctor who attended the patient was consulted to authorize the performance of pulmonary function tests (spirometry and manovacuometry). The information obtained from physical examination and from the tests were analyzed by the researcher to determine the presence or absence of DC of IBP, based on a previously established protocol. It is highlighted that 30 children and adolescents have not received medical approval to perform the pulmonary function tests. Despite this, these patients were sampled to determine the diagnosis just based on the DC from the interview and physical examination. Thus, two subsamples were formed, the first with 30 children and adolescents who did not perform such tests, and the second with 31 individuals who carried out such tests. The set of DC for each child and teenager was organized into 92 spreadsheets. In these, it was indicated the presence or absence of the DC. Each evaluation of the patients in the second subsample resulted in two spreadsheets, one only with the DC from the interview and clinical examination, and another with these same data added information from the pulmonary function tests. These spreadsheets were submitted to two nurses diagnosticians which determined the occurrence of IBP. The analysis of the inferences and the information on the occurrence of DC allowed the estimation of measures of accuracy. For the first subsample, the DC that showed better measures of accuracy was tachypnea. The inferences made for the second subsample, based on clinical data and interviews, presented as main DC: orthopnea and use of accessory muscles to breathe. When the results of pulmonary function tests were added, the inferences of the diagnosticians showed accuracy measures without statistical significance for all DC. With this, the results of this study raise questions about the importance of pulmonary function tests for the inference of the nursing diagnosis IBP. Furthermore, some DC showed no legitimacy for IBP, as follows: assumption of three point position, bradypnea, increased anterior-posterior diameter, decreased vital capacity, decreased expiratory pressure, and decreased minute ventilation. Thus, it is believed that further research is needed to confirm these findings, as well as to clarify the relationship of such DC with the diagnosis IBP. The measures of accuracy obtained helped identify which DC is more representative of IBP. Moreover, the results allowed to recognize which features are less used during the inference of this diagnosis in children and adolescents with congenital heart disease.

Introduction : Structural cardiac malformations affects 0.8-1% of children born worldwide, in Sweden 800-1000 children per year. Most children with congenital heart disease and their families will have frequent and lifelong contact with highly specialized care. Awareness of the parents experience is crucial in order to improve the nursing care. These experiences will be illustrated using a theoretical model of family-based nursing. Aim: The aim of this study was to describe experiences of being a parent to a child with a congenital heart disease. Method:A review of the literature was undertaken using systematic review principles. The search strategy included four electronic bibliographic databases, using the search terms experience, heart defects congenital, heart disease congenital, parent, parents and arenting. Nine studies focused on parent's experience. Seven used solely qualitative methodology and two studies used mixed methods. The analysis was performed and guided by qualitative content analysis. Results: Analysis of the nine studies on parents experience revealed two categories and six subcategories. The categories were: "feelings and need at the time of diagnosis" and "the time at home". Parents of children with congenital heart disease needed support from both health care and from their own social network. Their need was greatest at the time of diagnosis and surgery. Gradually everyday life stabilised. The result shows the parent's experience of anxiety and stress as a common path through the entire process. In time, the parents started to use different coping strategies to handle the situation. Conclusion: Nurses who meet parents of children with congenital heart disease should be aware of the need for repeated information, both oral and written. It is also important to provide information to siblings and relatives. Though familyfocused care the nurse can support parents in their parenting role and also include siblings. Sufficient information leads to better coping and parents feel more comfortable to take care of the sick child and their family.