Bakgrund: Medfödda hjärtfel tillhör de vanligaste missbildningarna hos levande födda barn. De stora framstegen inom hjärtkirurgin har lett till att fler barn överlever. Att få ett barn med medfött hjärtfel är väl dokumenterat som en mycket stressig upplevelse familjen. Föräldrar till hjärtsjuka barn uppvisar ett sämre välbefinnande jämfört med föräldrar till friska barn. Syfte: Att beskriva föräldrars upplevelser av att leva med ett barn med medfött hjärtfel. Metod: Allmän litteraturstudie med kvalitativ deskriptiv design och en deduktiv ansats. Katie Erikssons vårdteori om lidandet användes som teoretisk referensram. Resultat: Föräldrarna led av oro och stress i hög utsträckning och barnets hjärtsjukdom hadeen stor inverkan på hela familjens tillvaro. Bristen på information om barnets sjukdom gjordeatt föräldrarnas oro ökade. Skuld var en vanligt förekommande känsla hos föräldrarna. Medtiden använde en del föräldrar normalisering som strategi för att lindra sin oro. Slutsats: Föräldrar till hjärtsjuka barn upplever livslidande, vårdlidande och sjukdomslidande. Information och delaktighet i barnets vård är viktiga komponenter i omvårdanden av familjenför att lindra deras lidande. Normalisering skulle kunna vara en strategi för föräldrarna attlindra sitt lidande. Klinisk betydelse: Genom att skildra föräldrarnas perspektivkan kunskapen om deras lidande öka samt ge en ytterligare förståelse för hur det är att ha ett barn med medfött hjärtfel. / Background: Congenital heart defectsare one of the most common birth defects in live births. Major advances in cardiac surgery have led to a greater survival among these children. The diagnosis of a congenital heart condition is well documented as being a highly stressful time for the family. Parents of children with heart diseases show a lower sense of well-being compared to parents of healthy children. Aim: To describe parents’experiences of living with a child with congenital heart defect. Method: General literature study with a qualitative descriptive design and a deductive approach. The theory of Katie Eriksson and her view of suffering was used as a theoretical framework. Findings: The parents were suffering from anxiety and stress to a great extent and the child’s illness had a great impact on the whole family. The lack of information concerning the child’s disease increased the anxiety of the parents. Guilt was a common feeling among the parents. In time some parents used normalization as a strategy to ease their anxiety. Conclusion: Parents of children with heart disease experience life suffering, suffering from care and suffering from disease. Information and participation in the child’s care are important components in the care of the family to alleviate their suffering. Normalization could be a strategy for the parents to ease their suffering. Relevance to clinical practice: By describing parents perspective knowledge about their suffering may increase and provide a further understanding about what itis like to have a child with congenital heart disease.

Congenital heart disease (CHD) is the major cause of death in the first year of life, the estimated incidence being 0.5-5% of live births; therefore it is important to understand the genetic causes underlying the complex process of heart formation to help prophylaxis, diagnosis and treatment of affected patients. CHD is the commonest phenotype associated with left-right (LR) disorders. LR asymmetry is determined during embryonic development. The three major body axes ? antero-posterior, dorso-ventral and left-right ? are patterned at gastrulation. LR asymmetry is established shortly after the two other major axes are patterned. The process of LR determination can be sub-divided into four integrated steps: 1. breaking of molecular symmetry in the gastrulation organizer; 2. transfer or relay of this asymmetric information to the lateral plate mesoderm (LPM), from which most internal organs will be formed; 3. reinforcement and propagation of asymmetric cues throughout the LPM and 4. conversion of asymmetric molecular information into proper organ morphogenesis. The goal of this work is to investigate mechanisms involved at two specific points in the laterality pathway: the initial generation/maintenance of asymmetric gene expression in the LPM and the morphogenetic translation of these early events into correct heart formation in the mouse. My emphasis has been on the characterization of laterality targeted cells via careful analysis of Pitx2c expression using a Pitx2c-lacZ reporter transgene, the role of BMP signalling, via Smad1, in generation/maintenance of early asymmetric signalling in the LPM, and the later involvement of both Smad1 and Pitx2 in cardiac morphogenesis through analyses of knockout mice.

Thesis (M.S.)--University of Michigan, 1987.

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

Thesis (M.S.)--University of Michigan, 1987.

Background Adults with congenital heart disease (CHD) is a growing population and related to advances in surgical and medical treatment, they now outnumber the children with corresponding lesions. Since a congenital heart lesion often results in reduced exercise capacity, this population is a potential target for physiotherapy. To what extent this reduction in exercise capacity is caused by abnormal cardiovascular anatomy and physiology or to what degree insufficient physical activity contributes is not known. To support the advancements in paediatric cardiac care, increased knowledge regarding physical performance, physical activity level, body composition and the effects of exercise training among adults with CHD is required. Methods In a cross-sectional study skeletal- and respiratory muscle function, physical activity level and exercise self-efficacy was investigated among 85 adults with various forms of CHD and 42 control subjects. A second study was conducted to analyse height, weight and body mass index (BMI) in 538 adults with complex CHD and 1886 adults with simple CHD. Data were extracted from the Swedish registry on congenital heart disease (SWEDCON) and compared to data from a national population survey. In a third study, factors associated with self-reported quality of life (QoL) were analysed using SWEDCON data on 315 adults with congenital aortic valve disease. Finally, a randomised controlled trial was conducted to investigate the effects of interval exercise training among adults with complex CHD. Results Adults with complex CHD showed impaired muscle function compared to both patients with simple CHD and controls. In addition, patients with complex CHD had a lower exercise self-efficacy compared to controls. Patients with CHD were equally active at moderate-to-vigorous level as the controls. However, approximately 50% of both patients and controls failed to reach the recommended physical activity level. In general patients with CHD had the same height, weight and BMI, as the general population. However, compared to the general population, men with CHD were more commonly underweight and less commonly overweight/obese. Additionally, especially male patients with complex CHD were shorter compared to the general population. Among adults with congenital aortic valve disease, a higher physical activity level was associated with better QoL. Furthermore, interval training increased exercise capacity and endurance among adults with complex CHD. Conclusion A higher physical activity level was associated with better self-reported QoL in patients with congenital aortic valve disease which implies that QoL might be possible to improve, by adopting a physically active life-style. Adults with CHD were equally active as controls at a moderate-to-vigorous physical activity level. However, approximately half of both groups were insufficiently physically active based on current recommendations. This indicates that low physical activity, on group level, does not explain the lower exercise capacity commonly found among patients with CHD. In addition, this is consistent the finding that the majority of patients followed the same pattern regarding BMI as seen in the general population. However, impaired muscle function in combination with the shorter stature and higher prevalence of underweight found in men, especially with complex CHD, implies an altered body composition in this group. The findings of the present thesis suggests an indication for physiotherapy targeting increased physical activity level and individualized exercise training in this patient population. Moreover, regular evaluation of muscle function, exercise self-efficacy and QoL, in addition to exercise capacity, might be useful for monitoring disease development over time.

Respiratory Syncytial Virus (RSV) infection is common among young children. Congenital Heart Disease (CHD) is a risk factor of severe illness and hospitalization. Palivizumab prophylaxis reduces the severity of RSV infection and reduces the risk of hospitalization for children at high risk of severe illness, such as children born premature or with CHD. The aim of this thesis was to evaluate compliance with national guidelines for prophylactic treatment and to study the Relative Risk (RR) of hospitalization due to RSV and unspecified Respiratory Tract Infection (RTI) for children with CHD. In a prospective study, questionnaires were sent to all paediatric cardiology centres in Sweden with questions about prophylactic treatment. Hospitalization rates were retrieved from the national inpatient registry. Heart defects were grouped according to type and the relative risk of hospitalization was calculated for each group and for summer and winter seasons. Half of the patients received prophylactic treatment later than recommended in the guidelines. The risk of hospitalization due to RSV infection was increased (RR=2.06 95% CI 1.6-2.6; p < 0.0001) for children with CHD compared to children without CHD. The RR of hospitalization was also increased for all CHD subgroups, and was further increased during summer for children with the more severe CHD. We conclude that guidelines for prophylactic treatment were not followed and that the risk of hospitalization due to RSV and unspecified RTI was increased for all subgroups of CHD. The risk was increased both during winter and summer and we therefore argue that information to health personnel and parents should include that the risk of severe RTI is present all year round for children with CHD. / Respiratoriskt syncytialvirus (RSV) är det vanligaste förkylningsviruset och de allra flesta barn drabbas före två års ålder. RSV kan leda till allvarlig luftvägsinfektion hos alla barn, men speciellt hos dem med medfött hjärtfel. Någon botande läkemedelsbehandling finns inte för RSV, utan de medicinska insatserna får inriktas mot att mildra sjukdomsförloppet och för svårt sjuka barn krävs sjukhusvård för att exempelvis erhålla syrgasbehandling. Det finns inget vaccin mot RSV, men barn som riskerar att bli svårt sjuka kan behandlas profylaktiskt med en monoklonal antikropp (Palivizumab) som ges som injektion en gång per månad under vintersäsong. Vissa barn med svårt hjärtfel får denna profylaktiska behandling enligt nationella riktlinjer. Vår första studie visade att ungefär hälften av barnen med medfött hjärtfel, aktuella för profylax mot RSV, fick behandlingen senare än vad de nationella riktlinjerna rekommenderade. Denna studie genomfördes via en enkät till alla landets barnkliniker under två vintersäsonger. Vi såg även att något fler barn än förväntat (4.6%) fick RSV-infektion trots profylaktisk behandling och för cirka en tredjedel av dessa barn fördröjdes tiden till hjärtoperation. Behovet av sjukhusvård kan användas som mått på hur svårt ett sjukdomsförlopp är, och baserat på Socialstyrelsens slutenvårdsregister studerade vi alla barn under två års ålder och fann att den relativa risken för sjukhusvård på grund av RSV var högre för barn med hjärtfel än för barn utan hjärtfel (RR=2.06 95% CI 1.6-2.6; p < 0.0001). I vår andra studie, baserad på slutenvårdsregistret, beräknade vi den relativa risken för sjukhusvård på grund av RSV, för barn med olika former av hjärtfel och uppdelat i sommar- och vintersäsong. Risken för sjukhusvård var ökad för alla barn oavsett typ av hjärtfel, och detta gällde såväl under vintern som under sommaren. Barn med de allvarligaste formerna av hjärtfel hade högre risk för sjukhusvård under sommaren jämfört med deras risk under vintern, medan barn med vad som anses vara lättare hjärtfel hade ökad risk för sjukhusvård under hela året, utan någon större skillnad i risk mellan vinter och sommar. Att barn med hjärtfel riskerar att bli svårt sjuka i RSV är väl känt, men våra resultat visar att denna risk även existerar under sommarhalvåret, då det inte är RSV-säsong och då profylax inte ges. Vi fann också att barn med vad som anses vara lättare hjärtfel löper lika stor risk att drabbas av svårare sjukdomsförlopp med sjukhusvård under vintern, som barn med svårare hjärtfel. Att denna information sprids till såväl sjukvårdspersonal som arbetar med denna patientgrupp som till föräldrar med hjärtsjuka barn är viktigt, för att belysa att även dessa barn behöver skyddas, och detta inte bara under vintern och RSV-säsongen.

abstract: The advent of medical imaging has enabled significant advances in pre-procedural planning, allowing cardiovascular anatomy to be visualized noninvasively before a procedure. However, absolute scale and tactile information are not conveyed in traditional pre-procedural planning based on images alone. This information deficit fails to completely prepare clinicians for complex heart repair, where surgeons must consider the varied presentations of cardiac morphology and malformations. Three-dimensional (3D) visualization and 3D printing provide a mechanism to construct patient-specific, scale models of cardiovascular anatomy that surgeons and interventionalists can examine prior to a procedure. In addition, the same patient-specific models provide a valuable resource for educating future medical professionals. Instead of looking at idealized images on a computer screen or pages from medical textbooks, medical students can review a life-like model of patient anatomy. In cases where surgical repair is insufficient to return the heart to normal function, a patient may proceed to advanced heart failure, and a heart transplant may be required. Unfortunately, a finite number of available donor hearts are available. A mechanical circulatory support (MCS) device can be used to bridge the time between heart failure and reception of a donor heart. These MCS devices are typically constructed for the adult population. Accordingly, the size associated to the device is a limiting factor for small adults or pediatric patients who often have smaller thoracic measurements. While current eligibility criteria are based on correlative measurements, the aforementioned 3D visualization capabilities can be leveraged to accomplish patient-specific fit analysis. The main objectives of the work presented in this dissertation were 1) to develop and evaluate an optimized process for 3D printing cardiovascular anatomy for surgical planning and medical education and 2) to develop and evaluate computational tools to assess MCS device fit in specific patients. The evaluations for objectives 1 and 2 were completed with a collection of qualitative and quantitative validations. These validations include case studies to illustrate meaningful, qualitative results as well as quantitative results from surgical outcomes. The latter results present the first quantitative supporting evidence, beyond anecdotal case studies, regarding the efficacy of 3D printing for pre-procedural planning; this data is suitable as pilot data for clinical trials. The products of this work were used to plan 200 cardiovascular procedures (including 79 cardiothoracic surgeries at Phoenix Children's Hospital), via 3D printed heart models and assess MCS device fit in 29 patients across 6 countries. / Dissertation/Thesis / Doctoral Dissertation Bioengineering 2015

No cuidado cotidiano a crianças portadoras de cardiopatias congênitas percebe-se que os pais têm dificuldade para lidar, no domicílio, com as situações decorrentes da própria situação clínica, tais como cianose, prevenção da endocardite infecciosa, administração dos fármacos, etc. Com a finalidade de conhecer melhor os determinantes e possíveis soluções para tais situações, buscou-se identificar trabalhos científicos que abordassem as necessidades de informação e suporte a pais de criança cardiopatas, de 0 a 12 anos de idade, quanto à sete pontos: cardiopatia congênita propriamente dita; como lidar com a cianose; promoção de atividade física; promoção da alimentação; promoção da saúde bucal; prevenção da endocardite infecciosa e administração de fármacos. A busca foi realizada nas bases de dados MEDLINE, Cochrane, CINAHL, LILACS e Scielo, tendo-se limitado o período entre janeiro de 1997 e abril de 2007. Foram identificados 17 estudos, nos quais foi utilizada a análise temática de conteúdo como referencial metodológico. As categorias de análise foram os sete pontos previamente determinados. Os resultados mostraram que há categorias pouco exploradas, como, cuidados por ocasião de crise de cianose, promoção de atividade física e administração de fármacos. As outras concentram a maior parte dos estudos. São elas: conhecimento dos pais sobre a cardiopatia, promoção de alimentação (compreendendo aleitamento natural), promoção da saúde bucal e prevenção da endocardite infecciosa. Na análise geral percebe-se que o conhecimento dos pais, como um todo, é incompleto e fragmentado, tanto em países desenvolvidos, quanto nos em desenvolvimento. São descritos cuidados prestados por enfermeiros, dentistas e médicos, entre outros. Programas de capacitação de pais são poucos e apenas um é descrito como tendo êxito. Tais resultados apontam para a necessidade de mudanças, tanto em termos da relação direta com os pais, quanto em termos de re-organização dos serviços com vistas a abarcar de modo mais completo a necessidade de informação e suporte a estes / In the daily care regarding to children bearing congenital heart disease one can realize that parents have difficulties to deal, at home, with situations coming from the clinical situation itself, such as cyanosis, prevention of the infective endocarditis, administration of medicines, etc. In order to know better the main causes and possible solutions to such situations, one has sought to identify scientifical studies which approach the necessities of information and support to the parents of congenital heart disease from 0 up to 12 years old concerning seven points: congenital heart disease in the very sense of the problem; how to deal with cyanosis; promotion of physical activity; promotion of feeding; promotion of mouth and teeth hygiene; prevention of infective endocarditis and administration of medicines. The search was done in the bases of data MEDLINE, Cochrane, CINAHL, LILACS and Scielo, in the period between 1997 January to 2007 April. Seventeen studies were identified and the tematic analyses of content was used as methodological reference. The categories to analyse were the 7 points previously determinate. The results showed that there are categories with few reaserches carried out, as, for example, the care in situations of cyanosis crisis, promotion of physical activity and administration of medicines. The other ones concentrate the most of the studies. They are: parents\' knowledge about heart disease, promotion of feeding (including breast-feeding), promotion of mouth and teeth hygiene and prevention of infective endocarditis. The general analyses demonstrates that the parents\' knowledge, as a whole, is incomplete and fragmented both in developed world\'s countries and in the developing world ones. Cares rendered by nursery, odontological and medical staff are described along other sort of cares. Programs to capacitate parents are few and only one is describeb as succesful. Such results point to the need of changing.concerning the straight relation with parents and concerning the re-organization of the service as well, in order to embrace in a more complete way the necessity of information and support to parents

A dor ocasiona uma série de alterações sistêmicas que afetam o desenvolvimento do recém-nascido (RN), em particular, os submetidos à cirurgia cardíaca, além de acarretar alterações hemodinâmicas que podem comprometer sua sobrevivência. O objetivo do estudo foi caracterizar a população de neonatos submetidos a cirurgias cardíacas e descrever as práticas de controle da dor implementadas no primeiro pós-operatório. Estudo descritivo, transversal realizado na Sociedade Hospital Samaritano de São Paulo. Os dados foram obtidos de prontuários médicos de RN submetidos à cirurgia cardíaca, internados entre julho de 2001 e dezembro de 2005. Os registros sobre a avaliação da dor e intervenção medicamentosa para o alívio da dor no primeiro pós-operatório foram analisados. Dentre quarenta e dois RN submetidos a cirurgias cardíacas no período estudado, 30 atenderam aos critérios de inclusão e constituíram a casuística do estudo. A maioria dos RN nasceu a termo, pesava 2.500g ou mais na data do procedimento cirúrgico e foi submetida à cirurgia na primeira semana de vida. Foram identificados 24 diferentes diagnósticos de cardiopatias congênitas e 14 tipos de intervenções cirúrgicas, corretivas ou paliativas, no grupo estudado. Dentre 30 prontuários, foram identificados registros de avaliação de dor em 24 (80,0%). A avaliação por meio da escala NIPS foi anotada em 17 (56,7%) prontuários e em 15 (50,0%) verificou-se registro de comportamentos e alterações nos parâmetros fisiológicos indicativos de dor. Dos RN avaliados, 17 (56,7%) apresentaram registro de ocorrência de dor no primeiro pós-operatório. A maioria, 29 (96,7%), recebeu analgesia farmacológica: 24 (80,0%) RN receberam citrato de fentanil contínuo, 5 (16,7%) RN, dipirona intermitente, 5 (16,7%) RN, citrato de fentanil contínuo e dipirona intermitente, 1 (3,3%) RN recebeu citrato de fentanil contínuo e morfina intermitente. As doses administradas variaram amplamente. Foram também utilizados sedativos associados aos analgésicos: 12 (40,0%) RN receberam midazolan contínuo, 5 (16,7%) RN, midazolan intermitente, 1 (3,3%), besilato de cisatracúrio contínuo, 1 (3,3%) cloridrato de clorpromazina contínuo e 1 (3,3%) propofol intermitente Os resultados evidenciam não haver uniformidade e padronização na avaliação da dor pós-operatória e nos tipos e doses de fármacos utilizados para o controle da dor pós-operatória dos RN submetidos a cirurgias cardíacas no serviço estudado. / Pain causes several systemic alterations that affect the newborn’s development, specially the ones who underwent cardiac surgery. Besides, hemodynamic alterations related to pain can put their lives into risk. The aim of the study was to characterize pain control practices in newborns who underwent cardiac surgery. This is a cross-sectional and descriptive study performed in Sociedade Hospital Samaritano of São Paulo. The data were collected from the medical reports of the newborns who underwent cardiac surgery from July 2001 to December 2005. The records related to pain assessment and pharmacological treatment in the first post-operative day were analyzed. From 42 newborns who underwent cardiac surgery during the period studied, 30 of them were in accordance with the criteria of inclusion. Most of the neonates were term and their weights were 2.500 grams or more on the date of the surgery that was mostly performed in the first week of life. In the studied group, it was identified 24 different diagnoses of congenital heart deffects and 14 types of corrective or palliative surgical interventions. From the 30 medical reports, records of pain assessment were found in 24 of them (80.0%). The evaluations taken by using the NIPS were written in 17 medical reports (56.7%) and in 15 of them (50.0%) it was verified records of behavior and physiological parameters alterations that indicate pain. From the newborns evaluated, 17 (56.7%) presented records of pain in the first day post-surgery. 29 neonates (96.7%) received analgesics, as it follows: continuous fentanyl citrate, 24 newborns (80.0%); intermittent dipyrone, 5 (16.7%); continuous fentanyl citrate and intermittent dipyrone, 5 (16.7%) and fentanyl citrate and intermittent morphine, 1 (3.3%). The doses given to the neonates were very different. 12 (40.0%) newborns received the sedative midazolam by continuous infusion with analgesics. 5 (16.7%) neonates received intermittent midazolam, 1 (3.3%) received continuous cisatracurium besylate, 1 (3.3%) received continuous chlorpromazine hydrochloride and 1 (3.3%) received intermittent propofol. The results showed that there is no pattern and uniformity of pain assessment after surgery, neither of the types and doses of drugs used for pain control of the newborns who underwent cardiac surgery in the service that was studied.