A Case Report of an Uncommon Association of Total Intracardiac Anomalous Pulmonary Venous Return and Tetralogy of Fallot.

Total anomalous pulmonary venous return (TAPVR) represents a group of anomalies consisting of a lack of connection between the pulmonary veins and the left atrium. All oxygenated pulmonary venous return flows directly or indirectly into the right atrium. Survival is only possible with a right-to-left atrial shunt. It remains rare, accounting for less than 1% of all congenital heart diseases. Its association with tetralogy of Fallot is much rarer and has been documented in medical literature as isolated cases. Early prenatal diagnosis, rapid surgical repair, and optimal postoperative resuscitation appear to be the best guarantee of a favorable outcome following total repair of a pulmonary venous connection anomaly. Non-obstructed forms present as high-flow shunts with moderate cyanosis. The symptomatology of blocked forms is dominated by the obstruction to venous return; a clinical picture of respiratory distress with intense cyanosis and severe pulmonary arterial hypertension develops from the first days of life. Echocardiography is fundamental in diagnosing TAPVR. If the results are inconclusive, magnetic resonance imaging and computed tomography are appropriate alternatives for establishing a complete and accurate diagnosis. We report a case of a two-month and 22-day-old infant who is a product of a twin pregnancy, presenting with a non-obstructed TAPVR associated with tetralogy of Fallot, and his twin who died on day 20 of life, likely due to a complex cyanotic congenital heart disease.

Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature.

The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. While heterozygous TNNI3 missense mutations have long been associated with autosomal dominant hypertrophic and restrictive cardiomyopathies, the role of TNNI3 null mutations has been more debated due to the paucity and weak characterization of reported cases and the low penetrance of heterozygous genotypes. In recent years, however, an increasing amount of evidence has validated the hypothesis that biallelic TNNI3 null mutations cause a severe form of neonatal dilated cardiomyopathy. Here, we expand the case series reporting two unrelated patients afflicted with early onset dilated cardiomyopathy, due to homozygosity for the p.Arg98* TNNI3 variant, which had thus far been documented only in heterozygous patients and apparently healthy carriers, and the recurrent p.Arg69Alafs*8 variant, respectively. A review of previously reported biallelic TNNI3 loss-of-function variants and their associated cardiac phenotypes was also performed.

CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease.

BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort. METHODS: CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist. RESULTS: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%). CONCLUSIONS: CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.

Avaliação da deformação miocárdica pela ecocardiografia feature tracking em gatos com defeito perimembranoso do septo ventricular / Evaluation of myocardial deformation by the ecocardiography feature tracking in cats with perimembranosous defect of the septo ventricular

O desenvolvimento de novas ferramentas, como a ecocardiografia bidimensional feature tracking (2D-FTI), permite diagnosticar, de forma precoce, se há disfunção miocárdica em doenças cardíacas, inclusive as congênitas. O defeito septal ventricular (DSV) é a alteração congênita mais observada em felinos, no entanto pouco se sabe sobre a disfunção cardíaca nessa cardiopatia, especialmente em animais assintomáticos. O objetivo deste estudo foi avaliar, por meio do 2D-FTI, a deformação miocárdica ventricular esquerda pela mensuração dos índices ecocardiográficos strain (St) e strain rate (StR) radial, circunferencial e longitudinal, em gatos saudáveis e com DSV. Foram avaliados 12 gatos saudáveis e seis gatos com DSV para obtenção de St e StR em diversos segmentos miocárdicos. No sentido longitudinal, houve diferença estatística (P<0,05) para os segmentos septal basal, mediano e apical epicárdicos (P=0,0017; P<0,0001; P=0,0288), lateral mediano epicárdico (P=0,0327), septal mediano endocárdico (P=0,0035), lateral mediano endocárdico (P=0,0461), St epicárdico (P=0,0250) e St global (P=0,0382). Também houve diferença no segmento lateral mediano circunferencial endocárdico (P=0,0248), lateral mediano radial (St: P=0,0409; StR: P=0,0166) e posterior mediano radial (P=0,0369). O estudo evidenciou que, mesmo em animais assintomáticos com DSV, há redução na deformação miocárdica ventricular principalmente no sentido longitudinal, demonstrando maior vulnerabilidade dessas fibras.(AU)

The development of new tools, such as two-dimensional feature tracking (2D-FTI), allows early diagnosis of myocardial dysfunction in heart diseases including congenital heart disease. The ventricular septal defect (VSD) is the most frequently observed congenital abnormality in cats, however, little is known about cardiac dysfunction, especially in asymptomatic animals. The objective of this study was to evaluate the left ventricular myocardial deformation through 2D-FTI by the measurement of the radial, circumferential and longitudinal echocardiographic strain (St) and strain rate (StR) indices. Twelve healthy cats and six cats with VSD were evaluated to obtain St and StR in several myocardial segments. In the longitudinal direction, there was a statistical difference (P<0.05) for the epimyocardial basal septal, mid-septal, apical septal (P=0.0017; P<0.0001; P=0.0288), epimyocardial mid-lateral (P=0.0327), endomyocardial mid-septal (P=0.0035), endomyocardial mid-lateral (P=0.0461), St epimyocardial (P=0.0250) and St global (P=0.0382). There was also difference in the circumferential endomyocardial mid-lateral segment (P=0.0248), radial mid-lateral (St: P=0.0409; StR: P=0.0166) and radial mid-posterior (P=0.0369). The study showed that even in asymptomatic animals with VSD there is a reduction in ventricular myocardial deformation mainly in the longitudinal direction, demonstrating the fragility of these fibers.(AU)

[The left outflow tract: Abnormal features]. / La voie d'éjection gauche : aspects inhabituels.

The good knowledge of the characteristics of the left outflow tract allows us to detect but also to identify anomalies such as conal VSD and conotruncal anomalies. The analysis of this specific area of the heart must always be performed as part of a global analysis of the outflow tracts, combining the analysis of the right outflow tract with the assessment of the three vessel and trachea view.

[The left outflow tract: Normal features]. / La voie d'éjection gauche : aspects habituels.

Congenital heart disease remains an important cause of perinatal morbidity and mortality. Screening for these is based on a good knowledge of normal fetal heart anatomy and ultrasound views to be performed. After recommending the use of the four chambers and the right outflow tract views in 2005, CNEOF proposes recently adding the left outflow tract assessment. The use of this one should sensitize the operator to the notion of sweeping essential to obtain all these views and make it possible to improve the detection of the conal VSD and conotruncal pathologies.

Morbilidad y mortalidad neonatal por cardiopatías congénitas / Neonatal javascript:void(0)morbidity and mortality by congenital cardiopathies

RESUMEN Introducción: Las cardiopatías congénitas inciden en 8 x 1 000 recién nacidos vivos en el mundo y en gran medida determinan su mortalidad. Objetivo: Precisar la morbilidad y mortalidad neonatal por cardiopatías congénitas. Métodos: Estudio descriptivo, longitudinal y prospectivo realizado en 97 recién nacidos con estas cardiopatías, diagnósticados en el Servicio de Neonatología del Hospital Dr. Agostinho Neto de Guantánamo durante los años 2015- 2017. Se consideró el análisis segmentario, probable mecanismos que la determinan y tipo de cardiopatía. Resultados: Se identificaron cardiopatías congénitas en el 12,9 por ciento de los recién nacidos; la letalidad fue de 1,0 por ciento. Lo más común fue que se identificaron modos y tipos de conexión auriculoventricular y ventriculoarterial fisiológicos. Las anomalías en la muerte celular (47,3 por ciento) fue el mecanismo genético y molecular más observado. La cardiopatía más frecuente fue la comunicación interventricular (63,9 por ciento). La mayoría de las cardiopatías se clasificaron como: aisladas (95,9 por ciento), de gravedad moderada (92,8 por ciento), acianóticas (93,8 por ciento), no se asociaran a síndromes o enfermedades genéticas (94,9 por ciento) pero sí a malformaciones extracardiacas (94,9 por ciento). Se manifestaron sobre todo por soplo cardiaco (85,6 por ciento). El diagnóstico de 70,1 por ciento de las cardiopatías se realizó en etapa prenatal. Conclusiones: Estas afecciones no constituyen un problema de salud en el servicio de este hospital, pero a pesar de que la mayoría de las cardiopatías congénitas se diagnostican en etapa prenatal, se requiere continuar laborando en función de potenciar más su diagnóstico en esta etapa(AU)

ABSTRACT Introduction: Neonatal congenital cardiopathies have a global incidence of 8 x 1000 live births and it greatly determines their mortality. Objective: To specify the neonatal morbidity and mortality by congenital cardiopathies. Method: Descriptive, longitudinal and prospective study of 97 newborns with these cardiopathies diagnosed in the Neonatolgy Service in ´Dr. Agostinho Neto Hospital, Guantánamo province from 2015 to 2017. It was considered: the segmental analysis, probable mechanisms that determine it and cardiopathy type. Results: Congenital cardiopathies were identified in 12.9 percent of the newborns; the lethality was of 1.0 percent. The most common aspect was the identification of ways and types of aurículo-ventricular and physiologic ventrículo-arterial connection. Anomalies in the cellular death (47.3 percent) were the most frequent genetic and molecular mechanism. The most frequent congenital heart disease was the interventricular communication (63.9 percent). Most of the cardiopathies were classified as: isolated (95.9 percent); of moderate graveness (92.8 percent); acyanotic (93.8 percent); not associated to syndromes or genetic diseases (94.9 percent) but yes to extracardiac malformations (94.9 percent); and they manifested mainly by heart murmur (85.6 percent ). The diagnosis of 70.1 percent of the cardiopathies was carried out in prenatal stage. Conclusions: Congenital cardiopathies don't constitute a health problem in the Neonatology service of the Hospital; but instead that these were mainly diagnosed in the prenatal stage, it is required to continue working in function of boosting their prenatal diagnosis(AU)

Morbilidad y mortalidad neonatal por cardiopatías congénitas / Neonatal javascript: void(0)morbidity and mortality by congenital cardiopathies

Introducción: Las cardiopatías congénitas inciden en 8 x 1 000 recién nacidos vivos en el mundo y en gran medida determinan su mortalidad. Objetivo: Precisar la morbilidad y mortalidad neonatal por cardiopatías congénitas. Métodos: Estudio descriptivo, longitudinal y prospectivo realizado en 97 recién nacidos con estas cardiopatías, diagnósticados en el Servicio de Neonatología del Hospital Dr. Agostinho Neto de Guantánamo durante los años 2015- 2017. Se consideró el análisis segmentario, probable mecanismos que la determinan y tipo de cardiopatía. Resultados: Se identificaron cardiopatías congénitas en el 12,9 por ciento de los recién nacidos; la letalidad fue de 1,0 por ciento. Lo más común fue que se identificaron modos y tipos de conexión auriculoventricular y ventriculoarterial fisiológicos. Las anomalías en la muerte celular (47,3 por ciento) fue el mecanismo genético y molecular más observado. La cardiopatía más frecuente fue la comunicación interventricular (63,9 por ciento). La mayoría de las cardiopatías se clasificaron como: aisladas (95,9 por ciento), de gravedad moderada (92,8 por ciento), acianóticas (93,8 por ciento), no se asociaran a síndromes o enfermedades genéticas (94,9 por ciento) pero sí a malformaciones extracardiacas (94,9 por ciento). Se manifestaron sobre todo por soplo cardiaco (85,6 por ciento). El diagnóstico de 70,1 por ciento de las cardiopatías se realizó en etapa prenatal. Conclusiones: Estas afecciones no constituyen un problema de salud en el servicio de este hospital, pero a pesar de que la mayoría de las cardiopatías congénitas se diagnostican en etapa prenatal, se requiere continuar laborando en función de potenciar más su diagnóstico en esta etapa(AU)

Introduction: Neonatal congenital cardiopathies have a global incidence of 8 x 1000 live births and it greatly determines their mortality. Objective: To specify the neonatal morbidity and mortality by congenital cardiopathies. Method: Descriptive, longitudinal and prospective study of 97 newborns with these cardiopathies diagnosed in the Neonatolgy Service in ´Dr. Agostinho Neto Hospital, Guantánamo province from 2015 to 2017. It was considered: the segmental analysis, probable mechanisms that determine it and cardiopathy type. Results: Congenital cardiopathies were identified in 12.9 percent of the newborns; the lethality was of 1.0 percent. The most common aspect was the identification of ways and types of aurículo-ventricular and physiologic ventrículo-arterial connection. Anomalies in the cellular death (47.3 percent) were the most frequent genetic and molecular mechanism. The most frequent congenital heart disease was the interventricular communication (63.9 percent). Most of the cardiopathies were classified as: isolated (95.9 percent); of moderate graveness (92.8 percent); acyanotic (93.8 percent); not associated to syndromes or genetic diseases (94.9 percent) but yes to extracardiac malformations (94.9 percent); and they manifested mainly by heart murmur (85.6 percent ). The diagnosis of 70.1 percent of the cardiopathies was carried out in prenatal stage. Conclusions: Congenital cardiopathies don't constitute a health problem in the Neonatology service of the Hospital; but instead that these were mainly diagnosed in the prenatal stage, it is required to continue working in function of boosting their prenatal diagnosis(AU)

Anomalía de Ebstein en un paciente con síndrome de Down. Reporte de un caso / Ebstein's anomaly in a patient with Down syndrome. Case report

Resumen Paciente con síndrome de Down referido a nuestro departamento con cianosis y soplo cardíaco. Un ecocardiograma transtorácico mostró anomalía de Ebstein. Esta asociación es extremadamente rara. Se inició manejo médico ya que la lesión en la válvula tricúspide era leve. De acuerdo con nuestra revisión, se han descrito únicamente 12 casos en literatura médica.

Abstract An infant with Down's syndrome was referred to our department with cyanosis and heart murmur. A transthoracic echocardiogram demonstrated the presence of Ebstein's anomaly. This association is extremely unusual. Medical management was initiated since the tricuspid valve lesion was mild. Only twelve cases, to our knowledge, have been previously reported.

Unusual cause of left ventricular dysfunction in a child. / Causa rara de disfunção ventricular esquerda em idade pediátrica.

Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery is a rare congenital heart disease and a cause of myocardial ischemia during childhood. Most undiagnosed cases die in the first year of life as an extensive collateral network is essential for survival. The diagnosis requires a high index of clinical suspicion. The authors present the case of an 8-year-old black asymptomatic child referred from Cape Verde Island in order to clarify left ventricular dilatation and dysfunction with systo-diastolic turbulent flows observed at the interventricular septum. At the age of 3 months, she was diagnosed with heart failure, in the context of showing dilated cardiomyopathy. She was managed and clinically improved with anticongestive therapy, which she was still taking at the time of admission to our Center. The echocardiogram findings suggested Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery and the diagnosis was confirmed by computerized angiotomography and cardiac catheterization. The patient was successfully submitted to direct implantation of the left coronary artery into the aorta, allowing the creation of a double coronary perfusion system. This case illustrates an unusual presentation of a rare pathology that survived without a diagnosis after the first year of life. It also reinforces the importance of multimodality image screening in these cases.

Síndrome de Adams-Oliver en dos casos clínicos / Adams-Oliver Syndrom in two clinical cases

Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)

Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)

Cardiopatías congénitas en edad pediátrica, aspectos clínicos y epidemiológicos / Congenital heart disease in pediatric age, clinical and epidemiological aspects

RESUMEN Las malformaciones cardíacas congénitas constituyen un perfil de mortalidad que se planifica modificar de acuerdo con los objetivos, propósitos y directrices declarados por el Ministerio de Salud Pública. Para los pediatras es una preocupación el control de la morbilidad y mortalidad por esta causa, así como las acciones que contribuyen a facilitar las prioridades de salud de acuerdo a la evaluación de los resultados alcanzados en los programas y servicios implementados en relación con estas afecciones, por lo que el estudio de las cardiopatías congénitas deviene en una prioridad. Ante esta situación se decidió describir las características generales de esta afección mediante una revisión bibliográfica donde se expongan sus principales manifestaciones clínicas, factores etiológicos, clasificación, fisiopatología, aspectos demográficos, diagnóstico y tratamiento. Para ello se realizó una revisión bibliográfica de los trabajos más relevantes publicados a escala nacional e internacional y con ello contribuir en el proceso de educación médica continuada que se está ejecutando en la Universidad Médica y en todo el sector salud en nuestra provincia. Adicionalmente, el trabajo pudiera facilitar la creación de planes de acción que permitan en el futuro disminuir la prevalencia de cardiopatías congénitas en la provincia (AU).

ABSTRACT Congenital cardiac malformations constitute a mortality profile that is planned to be modified in accordance with the objectives, purposes and guidelines declared by the Ministry of Public Health. For pediatricians, it is a concern to control morbidity and mortality for this cause, and actions that contribute to facilitate health priorities with the evaluation of the results achieved in the programs and services implemented in relation to these conditions, the study of congenital heart disease becomes a priority. In view of this situation, the general objective of this condition is to describe the general characteristics of this condition by means of a bibliographical review that brings together its main clinical manifestations, etiological factors, classification, pathophysiology, demographic aspects, diagnosis and treatment. This will raise the level of knowledge about these diseases to identify risk factors preconceptionally and establish action plans that will in the future reduce the prevalence of congenital heart disease in the province (AU).

Cardiopatías congénitas en edad pediátrica, aspectos clínicos y epidemiológicos / Congenital heart disease in pediatric age, clinical and epidemiological aspects

RESUMEN Las malformaciones cardíacas congénitas constituyen un perfil de mortalidad que se planifica modificar de acuerdo con los objetivos, propósitos y directrices declarados por el Ministerio de Salud Pública. Para los pediatras es una preocupación el control de la morbilidad y mortalidad por esta causa, así como las acciones que contribuyen a facilitar las prioridades de salud de acuerdo a la evaluación de los resultados alcanzados en los programas y servicios implementados en relación con estas afecciones, por lo que el estudio de las cardiopatías congénitas deviene en una prioridad. Ante esta situación se decidió describir las características generales de esta afección mediante una revisión bibliográfica donde se expongan sus principales manifestaciones clínicas, factores etiológicos, clasificación, fisiopatología, aspectos demográficos, diagnóstico y tratamiento. Para ello se realizó una revisión bibliográfica de los trabajos más relevantes publicados a escala nacional e internacional y con ello contribuir en el proceso de educación médica continuada que se está ejecutando en la Universidad Médica y en todo el sector salud en nuestra provincia. Adicionalmente, el trabajo pudiera facilitar la creación de planes de acción que permitan en el futuro disminuir la prevalencia de cardiopatías congénitas en la provincia (AU).

ABSTRACT Congenital cardiac malformations constitute a mortality profile that is planned to be modified in accordance with the objectives, purposes and guidelines declared by the Ministry of Public Health. For pediatricians, it is a concern to control morbidity and mortality for this cause, and actions that contribute to facilitate health priorities with the evaluation of the results achieved in the programs and services implemented in relation to these conditions, the study of congenital heart disease becomes a priority. In view of this situation, the general objective of this condition is to describe the general characteristics of this condition by means of a bibliographical review that brings together its main clinical manifestations, etiological factors, classification, pathophysiology, demographic aspects, diagnosis and treatment. This will raise the level of knowledge about these diseases to identify risk factors preconceptionally and establish action plans that will in the future reduce the prevalence of congenital heart disease in the province (AU).

Feasibility Study on Neurally Adjusted Ventilatory Assist in Noninvasive Ventilation After Cardiac Surgery in Infants.

BACKGROUND: Our objective was to evaluate the feasibility, the quality of synchronization, and the influence on respiratory parameters of the noninvasive neurally adjusted ventilatory assist (NIV-NAVA) mode in infants after cardiac bypass surgery. We conducted a prospective, randomized cross-over study in infants undergoing noninvasive ventilation (NIV) after cardiac surgery. METHODS: Subjects were 10 infants < 5 kg. After extubation, subjects underwent 2 consecutive ventilatory modes after randomization into groups. In the CPAP first group, the subjects were ventilated first in nasal CPAP-1 and then in NIV-NAVA-2 for 30 min in each mode. In the NIV-NAVA first group, periods were reversed. All children were ventilated using the same interface. RESULTS: The analysis of curves showed a synchronization rate of 99.3% for all respiratory cycles. The rate of pneumatic inspiratory trigger was 3.4%. Asynchronies were infrequent. Some typical respiratory patterns (continuous effort and discontinuous inspiration) were found at rates of 10.9% and 31.1%, respectively. The respiratory trends showed a lower maximum diaphragmatic electrical activity (EAdi(max)) in NIV-NAVA periods compared with CPAP periods (P < .001 in the beginning of periods). The breathing frequency decreased significantly during the nasal CPAP-2 and NIV-NAVA-1 periods (P < .05). The inspiratory pressure increased significantly during the NIV-NAVA-1 and NIV-NAVA-2 periods (P < .05), but there was no significant difference for each parameter when comparing Δ values between the beginning and the end of each period. The EAdi signal was easy to obtain in all subjects, and no major side effects were associated with the use of NIV-NAVA. CONCLUSIONS: NIV-NAVA allows good synchronization in bi-level NIV in infant cardiac subjects weighing < 5 kg. The analysis of respiratory parameters shows that NIV NAVA decreases the work of breathing more effectively than nasal CPAP. The study shows some typical respiratory patterns in infants. (ClinicalTrials.gov registration NCT01570933.).

Relación entre estado nutricional y complicaciones posoperatorias en cardiopatías acianóticas y flujo pulmonar aumentado / Association of the nutritional status and the postoperative complications in acyanotic heart diseases and increased pulmonary flow

Introducción: los primeros trabajos que asocian desnutrición y cardiopatías se reportaron en los años 50. Los lactantes cardiópatas presentan alteraciones en el crecimiento y desarrollo, y es más severo el compromiso en aquellos que se presentan con insuficiencia cardiaca y cianosis. Se describen patrones de desnutrición de acuerdo con el tipo de cardiopatía, la que puede ser aguda o crónica. Objetivos: evaluar el impacto de la intervención nutricional, como medida que contribuye a disminuir las complicaciones posoperatorias, en lactantes con cardiopatías congénitas acianóticas y desnutridos, así como relacionar la presencia de infecciones posoperatorias con hipoalbuminemia. Métodos: estudio prospectivo que incluyó a 28 lactantes con cardiopatías congénitas acianóticas, flujo pulmonar aumentado y desnutridos, en el Cardiocentro Pediátrico William Soler, desde septiembre de 2008 hasta agosto de 2010. Fueron divididos en 2 grupos: Grupo I, no recibieron intervención nutricional; y Grupo II, recibieron intervención nutricional. El estado nutricional se determinó por el índice peso para la talla en ambos sexos. Se analizó la asociación de complicaciones posoperatorias y estado nutricional, así como la relación entre infección e hipoalbuminemia. Se aplicaron técnicas estadísticas descriptivas, se utilizaron los porcentajes y construyeron distribuciones de frecuencias absolutas y relativas. Resultados: el 69,2 por ciento de los niños del Grupo I se encontraron desnutridos en el momento de la cirugía, y las complicaciones infecciosas estuvieron presente en el 73,3 por ciento de los casos. En el Grupo II las complicaciones infecciosas se presentaron en el 13,3 por ciento de los pacientes. Conclusiones: el grupo de niños desnutridos presentó mayor número de complicaciones infecciosas, las que estuvieron relacionadas a hipoalbuminemia. La intervención nutricional preoperatoria favorece una menor incidencia de complicaciones posoperatorias

Introduction: the first papers that related malnutrition and heart diseases were reported in the 50's. The cardiopathic nurslings have growth and development disorders and they are more compromised if they present heart failure and cyanosis. Malnutrition patterns are described according to the type of heart disease, which may be acute or chronic. Objectives: to evaluate the impact of the nutritional intervention as a kind of measure to reduce postoperative complications in children with acyanotic congenital heart diseases as well as to relate the presence of postoperative infections to hypoalbuminemia. Methods: prospective study of 28 nurslings with acyanotic congenital heart diseases and increased pulmonary flow conducted in William Soler pediatric cardiocenter from September 2008 to August 2010; they were all evaluated prior to surgery. They were divided into 2 groups: Group I comprised malnourished cardiopathic nurslings and Group II included cardiopathic nurslings with no malnutrition. The nutritional status was determined by the weight for size indexes in both sexes. The association of the postoperative complications and the nutritional status was analyzed as well as the relationship of infection and hypoalbuminemia. To this end, summary statistic techniques and percentages were used and relative and absolute frequency distributions were created. Results: in Group I, 69.2 percent of children were found to be malnourished at the time of surgery and the infective complications were present in 73.3 percent of cases. In Group II, the infective complications occurred in 13.3 percent of patients. Conclusions: the group of malnourished children showed the highest number of infective complications, which were related to hypoalbuminemia. Preoperative nutritional intervention favors lower incidence of postoperative complications

Relación entre estado nutricional y complicaciones posoperatorias en cardiopatías acianóticas y flujo pulmonar aumentado / Association of the nutritional status and the postoperative complications in acyanotic heart diseases and increased pulmonary flow

Introducción: los primeros trabajos que asocian desnutrición y cardiopatías se reportaron en los años 50. Los lactantes cardiópatas presentan alteraciones en el crecimiento y desarrollo, y es más severo el compromiso en aquellos que se presentan con insuficiencia cardiaca y cianosis. Se describen patrones de desnutrición de acuerdo con el tipo de cardiopatía, la que puede ser aguda o crónica. Objetivos: evaluar el impacto de la intervención nutricional, como medida que contribuye a disminuir las complicaciones posoperatorias, en lactantes con cardiopatías congénitas acianóticas y desnutridos, así como relacionar la presencia de infecciones posoperatorias con hipoalbuminemia. Métodos: estudio prospectivo que incluyó a 28 lactantes con cardiopatías congénitas acianóticas, flujo pulmonar aumentado y desnutridos, en el Cardiocentro Pediátrico William Soler, desde septiembre de 2008 hasta agosto de 2010. Fueron divididos en 2 grupos: Grupo I, no recibieron intervención nutricional; y Grupo II, recibieron intervención nutricional. El estado nutricional se determinó por el índice peso para la talla en ambos sexos. Se analizó la asociación de complicaciones posoperatorias y estado nutricional, así como la relación entre infección e hipoalbuminemia. Se aplicaron técnicas estadísticas descriptivas, se utilizaron los porcentajes y construyeron distribuciones de frecuencias absolutas y relativas. Resultados: el 69,2 por ciento de los niños del Grupo I se encontraron desnutridos en el momento de la cirugía, y las complicaciones infecciosas estuvieron presente en el 73,3 por ciento de los casos. En el Grupo II las complicaciones infecciosas se presentaron en el 13,3 por ciento de los pacientes. Conclusiones: el grupo de niños desnutridos presentó mayor número de complicaciones infecciosas, las que estuvieron relacionadas a hipoalbuminemia. La intervención nutricional preoperatoria favorece una menor incidencia de complicaciones posoperatorias(AU)

Introduction: the first papers that related malnutrition and heart diseases were reported in the 50's. The cardiopathic nurslings have growth and development disorders and they are more compromised if they present heart failure and cyanosis. Malnutrition patterns are described according to the type of heart disease, which may be acute or chronic. Objectives: to evaluate the impact of the nutritional intervention as a kind of measure to reduce postoperative complications in children with acyanotic congenital heart diseases as well as to relate the presence of postoperative infections to hypoalbuminemia. Methods: prospective study of 28 nurslings with acyanotic congenital heart diseases and increased pulmonary flow conducted in William Soler pediatric cardiocenter from September 2008 to August 2010; they were all evaluated prior to surgery. They were divided into 2 groups: Group I comprised malnourished cardiopathic nurslings and Group II included cardiopathic nurslings with no malnutrition. The nutritional status was determined by the weight for size indexes in both sexes. The association of the postoperative complications and the nutritional status was analyzed as well as the relationship of infection and hypoalbuminemia. To this end, summary statistic techniques and percentages were used and relative and absolute frequency distributions were created. Results: in Group I, 69.2 percent of children were found to be malnourished at the time of surgery and the infective complications were present in 73.3 percent of cases. In Group II, the infective complications occurred in 13.3 percent of patients. Conclusions: the group of malnourished children showed the highest number of infective complications, which were related to hypoalbuminemia. Preoperative nutritional intervention favors lower incidence of postoperative complications(AU)

Protocolo de cuidados de enfermagem para crianças com cardiopatias congênitas: uma proposta baseada em NANDA-NOC-NIC / Nursing care protocol for children with congenital heart defects: a proposal based on NANDA-NOC-NIC

Introdução: O conhecimento dos principais diagnósticos de enfermagem de crianças com cardiopatia congênita hospitalizadas contribui para prever os cuidados de enfermagem a essa clientela. Objetivos: Caracterizar as crianças com cardiopatias congênitas com relação a sexo, idade, comorbidades, tempo de internação e termos registrados nos prontuários pela equipe de enfermagem; identificar os diagnósticos de enfermagem Nanda I, a partir dos termos encontrados nos registros de enfermagem de crianças com cardiopatias congênitas; verificar o grau de concordância da avaliação dos peritos em relação aos diagnósticos de enfermagem identificados; selecionar os resultados e intervenções de enfermagem para estes diagnósticos e analisar os dados encontrados sob a ótica da construção de um protocolo de cuidados de enfermagem com linguagem padronizada. Método: Trata-se de um estudo observacional, transversal com utilização da ferramenta metodológica mapeamento cruzado para identificação da classificação dos diagnósticos de enfermagem. Para a coleta de dados, foi utilizado um formulário preenchido a partir dos registros de enfermagem de 82 prontuários de crianças com cardiopatia congênita hospitalizadas. Os termos foram extraídos na íntegra, comparados com a classificação de diagnósticos de enfermagem pela pesquisadora e posteriormente avaliado por peritos. Os dados dos formulários foram digitados em computador residencial e armazenados em forma de banco de dados utilizando os programas Microsoft Excel 2007. A análise descritiva trouxe distribuições de frequências, cálculo das estatísticas mínimo, máximo, média, desvio padrão e percentis. Resultados: Os diagnósticos de enfermagem que compuseram o protocolo, após a análise de concordância entre peritos em ordem de maior frequência foram: risco de infecção (81,7%); troca de gases prejudicada (46,3%); intolerância à atividade (36,6%); padrão respiratório ineficaz (26,8%); risco de intolerância à atividade (20,7%); débito cardíaco diminuído (19,5%); risco de queda (18,3%); perfusão tissular periférica ineficaz (18,3%); atraso no crescimento e desenvolvimento (17,1%); comportamento desorganizado do lactente (17,1%) e risco de tensão do papel do cuidador (13,4%). Conclusão: Conclui-se, que através do método de mapeamento cruzado de uma linguagem não padronizada com uma linguagem padronizada foi possível identificar os diagnósticos de enfermagem de crianças com cardiopatias congênitas mais prevalentes. E a implementação desse instrumento viabilizará a padronização dos cuidados de enfermagem em uma classificação internacionalmente conhecida, otimização e melhora da qualidade da assistência

Background: The knowledge of the main nursing diagnoses of hospitalized children with congenital cardiopathy contributes to forecast the nursing care to this clientele. Objectives: To characterize the children with congenital cardiopathy in relation to gender, age, co morbidities, time of hospitalization and terms registered in the patients records by the nursing team; identify the Nanda I nursing diagnosis from the terms found in the nursing registers of children with congenital cardiopathies; to verify the degree of agreement of the experts evaluation in relation to nursing diagnosis identified; to select the results and nursing interventions for these diagnoses and to analyze data found under the view of the construction of a protocol of nursing care with standardized language. Method: This is an observational, transversal study using a methodological tool crossmapping for identifying the nursing diagnosis classification. To the data collect, it was used a formulary filled from the nursing records of 82 medical records of hospitalized children with congenital heart disease. The terms were extracted in full, compared with the classification of nursing diagnoses by the researcher and further evaluated by experts. The data were entered into the forms home computer and stored in the form of database programs using Microsoft Excel 2007. The descriptive analysis brought distributions of frequencies, calculation of minimum, maximum, average, standard deviation and percentiles statistics. Results: The nursing diagnoses that comprised the protocol, after the analysis of agreement among experts in order of more frequency were: risk of infection (81.7%); impaired gas exchange (46.3%); activity intolerance (36.6%); ineffective breathing pattern (26.8%); risk of activity intolerance (20.7%); decreased cardiac output (19.5%); risk of falls (18.3%); ineffective peripheral tissue perfusion (18.3%); growth developmental delay (17.1%); disorganized infant behavior (17.1%) and risk of the caregiver tension paper (13.4%). Conclusion: It concludes that through the crossmapping method of a non- standardized language with a standardized language it was identified the nursing diagnoses of children with most prevalent congenital cardiopathies. And the implementation of this tool will allow the standardization of the nursing care in an internationally known, optimization and improvement of quality of assistance

Síndrome de fenilquetonuria materna, un nuevo desafío para Chile / Maternal phenylketonuria syndrome, a new challenge for Chile

Phenylquetonuria (PKU) is a hereditary disease, caused by the deficiency or absence of the enzyme phenylalanine hydroxylase, which produces an abnormal conversion of phenylalanine (Phe) to tyrosine. If PKU is not diagnosed and treated during the neonatal period, blood accumulation of Phe causes neurological damage. Chile has a neonatal screening program for PKU and congenital hypothyroidism since 1992; this program has diagnosed 162 PKU patients in Chile, which are being followed-up in INTA, Universidad de Chile. Nowadays, there are 20 PKU patients in adolescence, so we face a new challenge such as maternal PKU syndrome. This syndrome refers to the teratogenic effect of Phe in a pregnant PKU female. The most frequent anomalies are intrauterine growth retardation, microcephaly, global development retardation and congenital heart defects. Their occurrence is directly related to maternal Phe during pregnancy. In order to assure a normal pregnancy and to prevent this syndrome, levels of Phe in blood should be kept between 2 and 6 mgldl prior to conception and throughout pregnancy. Considering this challenge, INTA has proposed a strict protocol of follow-up to improve the compliance to nutritional therapy and prevent maternal PKU syndrome.

La fenilquetonuria (PKU) es una patología hereditaria, producida por la deficiencia o ausencia de la enzima fenilalanina hidroxilasa, lo que impide la metabolización normal de la fenilalanina (FA) a tirosina. La acumulación de fenilalanina en la sangre ocasiona daño neurológico si no es diagnosticada y tratada desde el periodo neonatal. Desde 1992 Chile tiene un programa de pesquisa neonatal de PKU e hipotiroidismo congénito, lo que ha permitido diagnosticar 162 casos con PKU, los que mantienen un seguimiento integral en el INTA, de la Universidad de Chile. Actualmente hay 20 PKU en etapa de adolescencia, por lo que nos enfrentamos a un nuevo desafío, el síndrome de PKU materna. Este síndrome se refiere al efecto teratogénico de la FA en una embarazada con PKU. Las alteraciones más características son el retraso del crecimiento intrauterino, la microcefalia, el retraso global del desarrollo y los defectos cardiacos congénitos. La presencia de estas alteraciones está directamente relacionada con los niveles de FA de la madre durante el embarazo. Para asegurar un embarazo normal y prevenir este síndrome se recomienda la mantención de niveles de FA entre 2 y 6 mg/dl, desde el período preconcepcional y durante todo el embarazo. El INTA considerando este desafío, ha propuesto un protocolo de seguimiento estricto preconcepcional y durante el embarazo con el objetivo de favorecer la adherencia al tratamiento nutricional y prevenir el síndrome de PKU materna.

Anomalía de Ebstein en edad adulta / Ebstein anomaly in adulthood

La anomalía de Ebstein es una malformación congénita poco frecuente caracterizada por el adosamiento de los elementos de la válvula tricúspide en la cavidad del ventrículo derecho. Este adosamiento produce un desplazamiento del orificio fisiológico de la válvula tricúspide hacia la cavidad del ventrículo derecho. Generalmente se asocia a alteraciones propias de la válvula, como insuficiencia o estenosis tricuspídea, así con el desarrollo de insuficiencia cardiaca y la presencia de arritmias y síndrome de preexcitación. Aunque es un diagnóstico propio del neonato o del niño, se han descrito pacientes diagnosticados en la edad adulta. En estos últimos, la forma de presentación varía, y puede ir desde encontrarse asintomático hasta comenzar con arritmias. Se presenta el caso de una paciente de 70 años de edad que ingresó con el diagnóstico de flutter auricular, se decide cardioversión eléctrica retornando a ritmo sinusal. Al realizarle el ecocardiograma se diagnostica la anomalía de Ebstein. Se revisan las características clínicas, exámenes complementarios y tratamientos de esta entidad, así como la anatomía y embriología del aparato valvular tricuspídeo. El ecocardiograma continúa siendo el examen complementario de elección en esta entidad.

Ebstein anomaly is a non-frequent congenital malformation characterized by enclosing of tricuspid valve elements in right ventricle cavity. This enclosing produces a move of physiologic orifice of tricuspid valve within the right ventricle valve. Generally, it is associated with alterations typical of this valve, as insufficiency or tricuspid stenosis, as well as the development of heart insufficiency and the presence of arrhythmias and pre-excitation syndrome. Although it is a diagnosis characteristic of neonate or the children, has described patients diagnosed in adulthood. In past years, its presentation varies, and may be asymptomatic of start with arrhythmias. This is a female case presentation aged 70 admitted with a diagnosis of atrial flutter, thus the electric cardioversion to return to sinusal rhythm. In echocardiogram it is diagnosed an Ebstein anomaly. Clinical features, complementary examinations and treatment of this entity, as well as the anatomy and embryology of tricuspid valvular apparatus. Echocardiogram is the choice complementary examination in this entity.