Diagnóstico prenatal de dos casos de anomalías congénitas del desarrollo venoso sistémico: una entidad muy poco frecuente (España) / Prenatal diagnosis of two cases of congenital systemic venus return anomalies: a rare entity (Spain) / Diagnóstico pré-natal de dois casos de anormalidades congênitas do desenvolvimento venoso sistêmico: uma entidade muito rara (Espanha)

Introducción: las anomalías en el desarrollo del sistema venoso sistémico son una entidad poco frecuente, cuyo diagnóstico ecocardiográfico prenatal y posnatal puede suponer todo un reto. Por un lado, debido a su baja incidencia y por otro, a la dificultad en la correcta realización de los planos ecocardiográficos. No obstante, su diagnóstico es de vital importancia debido a la asociación con cardiopatías congénitas o cromosopatías. Objetivo: describir dos casos de una anomalía congénita cardiovascular poco frecuente. La persistencia de la vena cava superior izquierda con agenesia de la vena cava superior derecha es una de estas anomalías descritas cuya incidencia es muy baja cuando ambas variaciones se presentan conjuntamente. Casos clínicos: presentamos dos casos de recién nacidos sin antecedentes personales o familiares de interés, diagnosticados prenatalmente, cuyos hallazgos ecocardiográficos se confirman en el período posnatal. Conclusiones: ante el hallazgo aislado en el período fetal de esta variación anatómica que asocia dos anomalías del sistema venoso sistémico, cabe destacar la importancia de su confirmación ecocardiográfica posnatal para descartar cardiopatías congénitas de difícil diagnóstico durante la época prenatal. Así mismo, antes de la confirmación ecocardiográfica que será llevada a cabo por el cardiológico infantil, cabe destacar la importancia del pediatra en la primera exploración física y en la anamnesis a la familia para descartar posibles cardiopatías congénitas críticas o posibles síndromes asociados. El diagnóstico prenatal de persistencia de la vena cava superior izquierda con agenesia de la vena cava superior derecha le permitirá tener un alto grado de sospecha de estas patologías asociadas y por tanto llevar a cabo una actuación clínica precoz.

Introduction: anomalies in the development of the systemic venous system are a rare entity, and its prenatal and postnatal echocardiographic diagnosis can be challenging, due to its low incidence as well as to the difficulty in correctly performing echocardiographic imaging planes. However, its diagnosis is key because it is linked to congenital heart disease or chromosomal anomalies. Objective: describe two cases of a rare cardiovascular congenital anomaly. The persistence of the left superior vena cava with agenesis of the right superior vena cava is one of these described anomalies, with very low incidence when both variations occur together. Clinical cases: we present two cases of newborns with no relevant personal or family history, diagnosed prenatally with confirmed echocardiographic findings in the postnatal period. Conclusions: given the isolated finding in the fetal period of this anatomical variation that associates two anomalies of the systemic venous system, we should note the importance of its postnatal echocardiographic confirmation to rule out congenital heart disease that is difficult to diagnose during the prenatal period. Likewise, prior to the echocardiographic confirmation carried out by the pediatric cardiologist, we should stress the importance of the pediatrician diagnosis in the first physical examination and of the family history to rule out possible critical congenital heart disease or possible associated syndromes. The prenatal diagnosis of VCSIP with agenesis of the VCSD will lead to a high degree of suspicion of these associated pathologies and therefore may lead to early clinical action.

Introdução: as anomalias no desenvolvimento do sistema venoso sistêmico são uma entidade rara, cujo diagnóstico ecocardiográfico pré-natal e pós-natal pode ser um grande desafio. Por um lado, pela sua baixa incidência e, por outro, pela dificuldade em realizar corretamente os planos ecocardiográficos. No entanto, seu diagnóstico é vital devido à associação com cardiopatias congênitas ou anormalidades cromossômicas. Objetivo: descrever dois casos de rara anomalia congênita cardiovascular. A persistência da veia cava superior esquerda com agenesia da veia cava superior direita é uma dessas anomalias descritas cuja incidência é muito baixa quando ambas as variações ocorrem juntas. Casos clínicos: apresentamos dois casos de recém-nascidos sem antecedentes pessoais ou familiares significativos, diagnosticados no pré-natal e cujos achados ecocardiográficos foram confirmados no período pós-natal. Conclusões: dado o achado isolado no período fetal desta variação anatômica que associa duas anomalias do sistema venoso sistêmico, devemos ressaltar a importância de sua confirmação ecocardiográfica pós-natal para descartar cardiopatia congênita de difícil diagnóstico no pré-natal . Da mesma forma, antes da confirmação ecocardiográfica que será realizada pelo cardiologista pediátrico, ressaltamos a importância do pediatra no primeiro exame físico e na história familiar para afastar possíveis cardiopatias congênitas críticas ou possíveis síndromes associadas. O diagnóstico pré-natal de VCSIP com agenesia do VCSD permitirá ter um alto grau de suspeita dessas patologias associadas e, portanto, realizar uma ação clínica precoce.

Evaluación de la composición corporal mediante antropometría y bioimpedanciometría en supervivientes de leucemia aguda infantil / Body composition evaluation by anthropometry and bioelectrical impedance analysis in childhood acute leukemia survivors

Introducción: los supervivientes de leucemia aguda infantil (LAI) tienen riesgo de desarrollar obesidad. El objetivo del estudio fue evaluar la composición corporal en estos pacientes mediante las diferentes técnicas de empleadas en la práctica clínica y compararlas con el empleo del índice de masa corporal (IMC). Métodos: estudio transversal de 39 supervivientes de LAI con más de diez an~os desde el diagnóstico. Se evaluó el grado de acuerdo entre diferentes técnicas antropométricas y composición corporal y se analizaron factores de riesgo asociados al desarrollo de obesidad. Resultados: prevalencia de obesidad según porcentaje masa grasa por IMC 38,5%, perímetro cintura 46,1%, sumatorio cuatro pliegues 51,3% y bioimpedanciometría (BIA) 56,4%. Existe adecuada correlación entre los métodos, pero el IMC infraestima la adiposidad respecto al perímetro de cintura (-1,03 ± 2,01), pliegues (-2,95 ± 5,78 y BIA (-3,78 ± 7,4), con mayor infraestimación en % masa magra > 28%. Tres pacientes mostraron sarcopenia y solo uno, obesidad sarcopénica. La adiposidad estimada por el perímetro de cintura fue el parámetro con mejor asociación con los factores de riesgo cardiovascular (colesterol-LDL: r = 0,703; colesterol-HDL: r = -0,612; p < 0,05 e hipertensión: OR 4,17; IC 95%: 1,012-19,3). Los factores de riesgo asociados a obesidad fueron: sexo femenino, alto riesgo tumoral, tratamiento con radioterapia y trasplante de progenitores hematopoyéticos. Conclusiones: el IMC infraestima el porcentaje de supervivientes obesos respecto al empleo del perímetro de cintura, pliegues cutáneos y bioimpedanciometría, existiendo riesgo de clasificar erróneamente a sujetos obesos como no obesos. El sexo femenino, el alto riesgo tumoral, la radioterapia y el trasplante son factores de riesgo para presentar obesidad

Background: survivors of childhood acute leukemia are at risk for obesity. The purpose was to evaluate the different clinical measurements of body composition and to compare with body mass index (BMI). Methods: cross-sectional study of 39 survivors with more than ten years of survivorship since diagnosis. Anthropometry and body composition accuracy measurements were determined and also obesity risk factors. Results: obesity prevalence by body fat percentage were: 38.5 % for BMI; 46.1 % for waist circumference; 51.3 % for skinfolds and 56.4 % for bioelectrical impedance analysis (BIA). There was a good correlation among the measurements, but BMI underestimated the percent body fat among childhood leukemia survivors in comparison with: waist circumference (-1.03 ± 2.01), skinfolds (-2.95 ± 5.78) and BIA (-3.78 ± 7.4), and this bias appears to be more variable with increasing percent of body fat > 30 %. Three patients showed sarcopenia and only one sarcopenic obesity. Waist circumference fat mass was the better predictor of cardiovascular risk factors (LDL-cholesterol: r = 0.703; HDL-cholesterol: r = -0.612; p < 0.05 and hypertension: OR 4.17; IC 95 %: 1.012-19.3). Obesity risk factors were: female sex, high-risk tumor, radiotherapy and stem cell transplantation. Conclusions: BMI underestimates obese childhood leukemia survivors in comparison with waist circumference, skinfolds and bioelectrial impedance analysis. BMI use could misclassify obese survivors as non-obese. Female sex, high tumoral risk and coadyuvant treatments (radiotherapy and stem cell transplant) are risk factors for adiposity

Calidad de vida y estados crónicos de salud en supervivientes de leucemia aguda infantil / Quality of life and chronic health conditions in childhood acute leukaemia survivors

Introducción: El aumento en la supervivencia de la leucemia aguda (LA) infantil conlleva un incremento de morbilidades a largo plazo que acompañado del impacto ocasionado por el tratamiento puede alterar la calidad de vida (CV). Objetivo: Evaluar la prevalencia de comorbilidades crónicas, CV y predictores de su desarrollo en supervivientes de LA. Métodos: Estudio transversal de una cohorte de 54 individuos con más de 10 años de supervivencia tras diagnóstico de LA. Se evaluaron la presencia de comorbilidades y la CV global, física y mental mediante cuestionario SF-36. Resultados: El 53,7% presentó ≥ 1 comorbilidad crónica (24,7% hipotiroidismo; 20,3% obesidad; 14,8% síndrome metabólico; 18,5% disfunción cardiaca subclínica). El 20,3% de ellas fueron comorbilidades graves. El 73,3% de LA alto riesgo y el 66,6% de los tratados con radioterapia o trasplante presentaron comorbilidad tardía, p<0,05. La puntuación media de CV global fue 86,3 (14) (muy buena). Reportaron peor CV global los pacientes con LA de alto riesgo (83,2 vs. 89,5), comorbilidades graves (80,4 vs. 88,7) y del sexo femenino (81,8 vs. 89,9), p <0,05. Los pacientes obesos (80 vs. 92), hipotiroideos (84,9 vs. 92,4) y tratados con RT (82,3 vs. 87,5) tuvieron peor CV física (p <0,05) y aquellos con hipogonadismo (68,2 vs. 83,6) y tratados con TPH (77,2 vs. 83,1) menos puntuación en CV mental, p <0,05. Conclusiones: Los supervivientes de LA presentan una alta prevalencia de comorbilidades crónicas, asociadas al tratamiento recibido. A pesar de que estas influyen en alguna de las subescalas de su CV, la percepción global fue muy buena, incluso superior a la media de la población general

Background: Survival of childhood acute lymphoblastic leukaemia involves an increasing risk of long-term morbidities. Due to the impact of cancer treatment and comorbidities, AL survivors may experience a decrease in their health-related quality of life. Objective: We aimed to describe the long-term comorbidities, related quality of life and their development predictors in these survivors. Methods: cross-sectional study of 54 survivors aged ≥18 and who have a survival rate of more than 10 years. Quality of life was assessed by personal interview using SF-36 questionnaire. Results: 53.7% of AL survivors developed more than one comorbidity (24.7% hypothyroidism; 20.3% obesity; 14.8% metabolic syndrome; 18.5% subclinical cardiac dysfunction); 20.3% of them were severe. 73.3% of high-risk leukaemias and 66.6% of patients treated with radiotherapy or stem cells transplantation reported long-term comorbidity, P<.05. Global quality of live score was: 86.3 (14) (classified as very good). Patients with high-risk acute leukaemia (83.2 vs. 89.5), severe long-term comorbidities (80.4 vs. 89.7) and females (81.8 vs. 89.9), reported worse quality of life, P<.05. Physical summary score was worse in: obese (80 vs. 92) and hypothyroid (84.9 vs. 92.4) and radiotherapy-treated survivors (82.3 vs. 87.5); mental summary was worse in survivors with hypogonadism (68.2 vs. 86.3) and trasplanted patients (77.2 vs. 83.1), P<.05. Conclusions: Acute leukaemia survivors reported an increase prevalence of chronic comorbidities, related to cancer-treatment. Despite a decrease in scores for certain physical or mental items, global quality of life was very good in all acute leukaemia survivors, even better than compared with the general population

Quality of life and chronic health conditions in childhood acute leukaemia survivors. / Calidad de vida y estados crónicos de salud en supervivientes de leucemia aguda infantil.

BACKGROUND: Survival of childhood acute lymphoblastic leukaemia involves an increasing risk of long-term morbidities. Due to the impact of cancer treatment and comorbidities, AL survivors may experience a decrease in their health-related quality of life. OBJECTIVE: We aimed to describe the long-term comorbidities, related quality of life and their development predictors in these survivors. METHODS: cross-sectional study of 54 survivors aged ≥18 and who have a survival rate of more than 10 years. Quality of life was assessed by personal interview using SF-36 questionnaire. RESULTS: 53.7% of AL survivors developed more than one comorbidity (24.7% hypothyroidism; 20.3% obesity; 14.8% metabolic syndrome; 18.5% subclinical cardiac dysfunction); 20.3% of them were severe. 73.3% of high-risk leukaemias and 66.6% of patients treated with radiotherapy or stem cells transplantation reported long-term comorbidity, P<.05. Global quality of live score was: 86.3 (14) (classified as very good). Patients with high-risk acute leukaemia (83.2 vs. 89.5), severe long-term comorbidities (80.4 vs. 89.7) and females (81.8 vs. 89.9), reported worse quality of life, P<.05. Physical summary score was worse in: obese (80 vs. 92) and hypothyroid (84.9 vs. 92.4) and radiotherapy-treated survivors (82.3 vs. 87.5); mental summary was worse in survivors with hypogonadism (68.2 vs. 86.3) and trasplanted patients (77.2 vs. 83.1), P<.05. CONCLUSIONS: Acute leukaemia survivors reported an increase prevalence of chronic comorbidities, related to cancer-treatment. Despite a decrease in scores for certain physical or mental items, global quality of life was very good in all acute leukaemia survivors, even better than compared with the general population.

Use of speckle tracking in the evaluation of late subclinical myocardial damage in survivors of childhood acute leukaemia.

Heart disease is the leading cause of non-cancer death in childhood cancer survivors. to determine the prevalence of subclinical cardiac dysfunction using speckle tracking and compare its results with those obtained by classical methods of assessing left ventricular function and its relationship with different factors to identify the population at higher risk. Echocardiographic assessment of left ventricular function included ejection fraction, tissue Doppler, longitudinal/circumferential strains and biochemical parameters (troponin-T and Pro-BNP) in a cohort of 57 survivors of childhood acute leukaemia with at least 10 years since diagnosis. Ventricular dysfunction was found in 5.2% of patients in M-mode (ejection fraction-EF < 53% with a reduction in the EF ≥ 10%) and in 7% of patients with Simpson's method, compared with 21.05 and 8.8% with suboptimal global longitudinal strain (GLS) and global circumferential strain, respectively. The GLS alteration was significantly correlated with lower values of left ventricular systolic function and was associated with high tumour risk (odds ratio [OR] 13.8), cumulative doses of anthracyclines ≥ 250 mg/m2 (OR 7.6) and radiotherapy (OR 7.19). Biomarkers were not useful for the diagnosis of subclinical cardiomyopathy. Good reproducibility was obtained, with an intraobserver correlation of 93.6% and an interobserver correlation of 89.2% in the GLS. The alteration of the GLS was more prevalent than the alteration in the EF and was associated with the treatment received and high tumour risk. strain imaging seems to be a powerful tool to identify an increased number of survivor with an early myocardial injury.

[Not Available]. / Evolución del riesgo cardiometabólico en pacientes supervivientes de leucemia aguda infantil.

Introducción: los supervivientes de leucemia aguda (LA) infantil presentan un riesgo incrementado de alteraciones metabólicas y cardiovasculares que aumentan su morbimortalidad a largo plazo.Objetivo: estimar la prevalencia de obesidad, resistencia a la insulina, dislipemia e hipertensión arterial como factores de riesgo cardiometabólico (FRCM) en un grupo de supervivientes de LA infantil, y analizar las posibles causas asociadas a su desarrollo.Material y métodos: estudio observacional retrospectivo en 47 supervivientes de LA tratados en un periodo de 4 años, que recibieron seguimiento durante 10 años.Resultados: el 40% de los participantes presentaron al menos un FRCM durante el seguimiento, siendo la dislipemia (aumento LDL) el más frecuente (38,3%), seguido de obesidad/sobrepeso (31,9%) y HTA sistólica (23,4%). El sexo femenino se estableció como factor de riesgo parael desarrollo de todos ellos (RR 1,6; RR 3,16; RR 1,69; p < 0,05). Ningún superviviente desarrolló diabetes mellitus, pero sí resistencia a la insulina el 19,4%. Los pacientes con leucemias de peor pronóstico presentaron mayor riesgo de desarrollar obesidad, resistencia a la insulina y aumento de LDL (RR 3,56; RR 4,08; RR 2,53; p < 0,05). Los pacientes tratados con trasplante de progenitores hematopoyéticos presentaron mayor riesgo de obesidad, aumento de LDL e HTA sistólica (RR 2,86; RR 2,39; RR 3,12; p<0,05). La radioterapia se asoció de igual modo con un incremento de resistencia a la insulina e hipertensión arterial sistólica (RR 2,47; RR 2,53; p < 0,05).Conclusiones: existe un aumento en la prevalencia de obesidad/sobrepeso, dislipemia, resistencia a la insulina y alteración de la tensión arterial sistólica en supervivientes de leucemia aguda infantil a lo largo del tiempo, especialmente en aquellos con enfermedades y tratamientos más agresivos.

Evolución del riesgo cardiometabólico en pacientes supervivientes de leucemia aguda infantil / Evolution of cardiometabolic risk among childhood acute leukemia survivors

Introducción: los supervivientes de leucemia aguda (LA) infantil presentan un riesgo incrementado de alteraciones metabólicas y cardiovasculares que aumentan su morbimortalidad a largo plazo. Objetivo: estimar la prevalencia de obesidad, resistencia a la insulina, dislipemia e hipertensión arterial como factores de riesgo cardiometabólico (FRCM) en un grupo de supervivientes de LA infantil, y analizar las posibles causas asociadas a su desarrollo. Material y métodos: estudio observacional retrospectivo en 47 supervivientes de LA tratados en un periodo de 4 años, que recibieron seguimiento durante 10 años. Resultados: el 40% de los participantes presentaron al menos un FRCM durante el seguimiento, siendo la dislipemia (aumento LDL) el más frecuente (38,3%), seguido de obesidad/sobrepeso (31,9%) y HTA sistólica (23,4%). El sexo femenino se estableció como factor de riesgo para el desarrollo de todos ellos (RR 1,6; RR 3,16; RR 1,69; p < 0,05). Ningún superviviente desarrolló diabetes mellitus, pero sí resistencia a la insulina el 19,4%. Los pacientes con leucemias de peor pronóstico presentaron mayor riesgo de desarrollar obesidad, resistencia a la insulina y aumento de LDL (RR 3,56; RR 4,08; RR 2,53; p < 0,05). Los pacientes tratados con trasplante de progenitores hematopoyéticos presentaron mayor riesgo de obesidad, aumento de LDL e HTA sistólica (RR 2,86; RR 2,39; RR 3,12; p< 0,05). Conclusiones: existe un aumento en la prevalencia de obesidad/sobrepeso, dislipemia, resistencia a la insulina y alteración de la tensión arterial sistólica en supervivientes de leucemia aguda infantil a lo largo del tiempo, especialmente en aquellos con enfermedades y tratamientos más agresivos (AU)

Background: Survivors of childhood acute leukemia (AL) face an increased risk of metabolic and cardiovascular late effects which increase their long-term morbimotality. Objective: To assess the prevalence of obesity, insulinresistance, dyslipidemia and hypertension as cardiometabolic risk factors in survivors of a childhood AL, and also to determine possible causes for these adverse cardiometabolic traits. Material and methods: A retrospective cohort study of 47 pediatric acute leukemia survivors diagnosed between 0-15 years, with a ten years follow-up. Results: Forty percent of participants had at least one cardiometabolic risk factor. Dyslipidemia (increased LDL cholesterol) was the most frequent (38.3%), secondly overweight/obese (31.9%), followed by systolic hypertension (23.4%). Females in contrast to males had an increased risk of developing all three risk factors (RR 1.6; RR 3.16; RR 1.69; p < 0.05). Only 19.4% of participants developed insulin resistance, while none were diagnosed with diabetes mellitus. High risk acute leukemia survivors were significantly more likely than low risk leukemia survivors to manifest multiple cardiometabolic traits like overweight/obesity, insulin resitance and dyslipidemia (RR 3.56; RR 2.39; RR 2.53; p < 0.05). Also, those who received hematopoietic cell trasplantation had an increased prevalence of overweight/obesity, increased LDL-cholesterol and systolic hypertension. Radiotherapy treatment was also associated with insulin resitance and systolic hypertension (RR 2.47; RR 2.53; p < 0.05). Conclusions: There is an increased risk of overweight/obesity, dyslipidemia, insulin resistance and systolic blood pressure modifi cation in childhood acute leukemia survivors, specially in those who were diagnosed as a high risk acute laukemia and those treated with more aggressive treatments (AU)