A ventricular septal defect occurring on its own is a congenital defect of the interventricular septum of the heart causing varying degrees of increased pulmonary blood flow and associated clinical symptoms. It may also occur in association with obstruction in the right ventricle resulting in diminished pulmonary blood flow. Very little is documented about the incidence of ventricular septal defects in South African children. The aim of this study was to briefly review the embryology and consider the normal anatomy of the interventricular septum. In addition, the clinical and surgical notes of all children that underwent surgical repair of ventricular septal defects (these included isolated ventricular septal defects, those with multiple ventricular septal defects, as well as those associated with tetralogy of Fallot and double chambered right ventricle) referred to the paediatric cardiothoracic unit at the Charlotte Maxeke Academic Hospital, from the Paediatric Cardiology units at the Charlotte Maxeke Academic Hospital, Chris Hani Baragwanath Academic Hospital and the Rahima Moosa Hospitals between 2001 and 2004, were analysed for the position, number of and size of ventricular septal defects. For this purpose, 11 cadaveric neonatal hearts were dissected while seven post-mortem specimens of the heart, four with isolated ventricular septal defects and three with tetralogy of Fallot were analysed. In addition, 50 cases of isolated ventricular septal defects, 42 cases with tetralogy of Fallot and eight cases with double chambered right ventricle were retrospectively reviewed. The membranous and the muscular septum made up the largest components of the interventricular septum in the normal neonatal hearts. A perimembranous ventricular septal defect was the most common type of defect diagnosed in these patients (the majority of the patients were Black children), 78% of cases with a single isolated ventricular septal defect, 90% in patients with tetralogy of Fallot, and 75% in the group with double chambered right ventricle. The average sizes of all perimembranous defects (from the echocardiogram) were classified as small, moderate or large. An additional interesting finding was prolapse of the right coronary cusp of the aortic valve into the isolated ventricular septal defect and occurred in 22% (11 out of 50) of patients. Aortic regurgitation occurred in association with prolapse of the right coronary cusp in 54.5% (5 out of 11) of cases. This prevalence in black patients is much higher than has been documented in White or Japanese children. Non-compaction of the left ventricle was seen in one post-mortem specimen in association with a perimembranous ventricular septal defect and dilated cardiomyopathy. This recently described abnormality is alluded to in the discussion. Attention is drawn to the abnormality known as double chambered right ventricle, where the size of the ventricular septal defect is variable and where the site of obstruction in the right ventricle is caused by muscle bundles lower than that seen in tetralogy of Fallot. Knowledge of ventricular septal defects found in South African children will help in the assessment and care of these patients with one of the most common congenital cardiac malformations.

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).

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

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

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.

Thesis (M.S.)--University of Wisconsin--Madison, 1983. / Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 109-115).

Theses (M.S.)--University of Wisconsin-Madison, 1992. / Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 83-91).

CoordenaÃÃo de AperfeiÃoamento de NÃvel Superior / Conselho Nacional de Desenvolvimento CientÃfico e TecnolÃgico / A assistÃncia de enfermagem à crianÃa portadora de cardiopatia congÃnita com Ãnfase na investigaÃÃo de dados antropomÃtricos à recomendada precocemente, pois significantes atrasos no peso e comprimento devido ao comprometimento hemodinÃmico relacionam-se intimamente aos problemas nutricionais. Buscou-se avaliar o estado nutricional de crianÃas menores de 2 anos de idade, portadoras de cardiopatias congÃnitas, mediante estudo antropomÃtrico, caracterizar os dados sociodemogrÃficos, histÃria alimentar e antecedentes perinatais, analisar os percentis e escore Z de peso/comprimento, peso/idade, comprimento/idade, circunferÃncia braquial, Ãndice de massa corporal/idade e verificar os preditores de alteraÃÃo dos parÃmetros antropomÃtricos, dos percentis e escore Z nessas crianÃas. Estudo transversal e observacional desenvolvido em duas instituiÃÃes de saÃde ambulatorial e hospitalar, referÃncias em doenÃas cardÃacas. A coleta de dados ocorreu de janeiro a junho de 2009, utilizando formulÃrio estruturado em dados: identificaÃÃo da crianÃa, sociodemogrÃficos, antecedentes perinatais, diagnÃstico patolÃgico, registro alimentar atual e medidas antropomÃtricas. Respeitaram-se todos os aspectos Ãticos e avaliaram-se 132 crianÃas predominantemente de Fortaleza-CE, do sexo masculino, com mediana de idade atà 8,5 meses e portadoras de cardiopatias congÃnitas acianÃticas, tipo comunicaÃÃo interatrial, em acompanhamento ambulatorial, no perÃodo prÃ-operatÃrio. Conforme os achados, a maioria de crianÃas era desprovida financeiramente; as mÃes haviam cursado atà nove anos de estudo, restritas Ãs atividades do lar, e dividiam com os companheiros os cuidados do filho. A maior parte das crianÃas consumia fÃrmulas lÃcteas infantis acrescentadas de complementos alimentares. Segundo os antecedentes perinatais, evidenciaram-se mÃes com atà dois filhos e aproximadamente 27 anos de idade no nascimento do filho cardiopata, alimentaÃÃo adequada durante o perÃodo gestacional, assinalado por intercorrÃncias: infecÃÃes do trato urinÃrio, sangramentos transvaginais, dores, ameaÃa de aborto, hiperÃmese gravÃdica, hipertensÃo arterial, rubÃola, anemia ferropriva, diabetes gestacional, anorexia e edema. Metade das mÃes realizou atà seis consultas de prÃ-natal. Grande parcela das crianÃas nasceu de parto cesÃreo e foi classificada como RN a termo, com elevados escores de Apgar. Com referÃncia à antropometria, tiveram valores de peso e comprimento adequados ao nascer e outras medidas obtidas no momento do estudo consideradas dentro do padrÃo de normalidade. Os percentis e escores Z predominantes no estudo concentraram-se dentro da faixa de normalidade nutricional. No entanto, os valores de escores Z apresentaram variaÃÃes negativas com desvio para a esquerda, portanto, mesmo incluÃdas na faixa nutricional adequada, as crianÃas estÃo em risco iminente de desenvolver alteraÃÃes nutricionais e seus valores de escores Z ainda sÃo discrepantes em relaÃÃo Ãs crianÃas sadias. Na anÃlise de fatores preditores, a ocorrÃncia de desnutriÃÃo imediata e desnutriÃÃo aguda està relacionada à diminuiÃÃo do valor da prega cutÃnea subescapular e a ocorrÃncia de desnutriÃÃo imediata refere-se ao elevado escore de Apgar no primeiro minuto. AlÃm disso, a desnutriÃÃo crÃnica relacionou-se Ãs crianÃas do sexo feminino com idades maiores. Por fim, em face da magnitude do defeito cardÃaco e sua profunda repercussÃo no estado nutricional da crianÃa, estudos podem aperfeiÃoar o conhecimento do enfermeiro e subsidiar o acompanhamento do crescimento que possibilite melhor prognÃstico dessas crianÃas em diferentes contextos da saÃde.

Disruptions in folate metabolism are known to increase the risk for neural tube defects (NTD) and this is preventable by folic acid supplementation. However, the relationship between folate metabolism and cardiac development remains unclear. The interaction between other folate pathway nutrients, choline and riboflavin, and folate metabolism was studied in a murine model of methylenetetrahydrofolate reductase (MTHFR) deficiency. Maternal choline deficiency, riboflavin deficiency and MTHFR deficiency adversely affected embryonic or heart development. The promoters of MTHFR were also examined for interactions with GATA-4, TBX5, MEF2A and NKX-2.5, known transcription factors of cardiac development. Upstream promoter activity was increased in the presence of GATA-4 and this interaction was further enhanced upon the addition of MEF2A. TBX5 appeared to decrease upstream promoter activity. GATA-4 modestly increased downstream promoter activity. These results highlight the importance of adequate nutrient intake during pregnancy and provide a link between folate metabolism and cardiac development.

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