Hamartoma of mature cardiac myocytes presenting as a polypoid epicardial tumor in the interatrial groove and with gene fusions by copy number anomalies of chromosome 7.

Hamartoma of mature cardiac myocytes (HMCM) is an extremely rare cardiac tumor characterized by benign growth of differentiated mature striated cardiac myocytes, and usually involves the ventricular myocardium. We describe the case of a 15-year-old female who presented with a short history of atrial fibrillation and a polypoid epicardial tumor that was attached to the interatrial groove by a short pedicle. The resected specimen showed features consistent with HMCM. Although these tumors are not associated with any known molecular or cytogenetic abnormalities, we identified fusions transcripts along with complex copy number anomalies of chromosome 7.

Acute myocarditis with transient myocardial thickening in two oncologic patients treated with anti-GD2 immunotherapy.

Immunotherapy has considerably improved clinical outcomes in different types of cancers but has also been associated with the development of myocarditis, especially with that mediated by immune checkpoint inhibitors. To the best of our knowledge, these are the first cases of myocarditis after anti-GD2 immunotherapy reported to date. We present two cases of paediatric patients who, after anti-GD2 infusion, presented severe myocarditis with myocardial hypertrophy detected on echocardiography and confirmed with cardiac magnetic resonance imaging. An increase in myocardial T1 and extracellular volume of up to 30% was observed with heterogeneous intramyocardial late enhancement. Myocarditis after anti-GD2 immunotherapy may be more common than appreciated, occurs early after starting treatment, has a malignant course, and responds to higher steroid doses.

Machine Learning-Based Systems for the Anticipation of Adverse Events After Pediatric Cardiac Surgery.

Pediatric congenital heart disease (CHD) patients are at higher risk of postoperative complications and clinical deterioration either due to their underlying pathology or due to the cardiac surgery, contributing significantly to mortality, morbidity, hospital and family costs, and poor quality of life. In current clinical practice, clinical deterioration is detected, in most of the cases, when it has already occurred. Several early warning scores (EWS) have been proposed to assess children at risk of clinical deterioration using vital signs and risk indicators, in order to intervene in a timely manner to reduce the impact of deterioration and risk of death among children. However, EWS are based on measurements performed at a single time point without incorporating trends nor providing information about patient's risk trajectory. Moreover, some of these measurements rely on subjective assessment making them susceptible to different interpretations. All these limitations could explain why the implementation of EWS in high-resource settings failed to show a significant decrease in hospital mortality. By means of machine learning (ML) based algorithms we could integrate heterogeneous and complex data to predict patient's risk of deterioration. In this perspective article, we provide a brief overview of the potential of ML technologies to improve the identification of pediatric CHD patients at high-risk for clinical deterioration after cardiac surgery, and present the CORTEX traffic light, a ML-based predictive system that Sant Joan de Déu Barcelona Children's Hospital is implementing, as an illustration of the application of an ML-based risk stratification system in a relevant hospital setting.

Evaluation of cardiac function in a group of small for gestational age school-age children treated with growth hormone. / Evaluación de la función cardiaca en un grupo de niños pequeños para la edad gestacional en edad escolar en tratamiento con hormona de crecimiento.

INTRODUCTION AND OBJECTIVES: Small for gestational age (SGA) patients have an increased risk of developing a cardiovascular pathology, as well as a metabolic syndrome. Our objective is to evaluate the cardiac morphology and function of SGA children treated with growth hormone (GH), identifying changes that could potentially have long-term consequences. METHODS: We selected 23 SGA school-age patients and 23 healthy children. We measured their weight, height, blood pressure and heart rate. Using transthoracic echocardiography, we evaluated cardiac chamber size, ascending and abdominal aortic diameter as well as the systolic and diastolic function of both ventricles. RESULTS: SGA children have a higher systolic and diastolic blood pressure (P<.05) without significant changes in their heart rate. They also have a thicker interventricular septum (SGA Z-score 1.57 vs. 0.89; P=.026) and a worse right ventricular systolic function, with a lower TAPSE (SGA Z-score -0.98 vs. 0.95; P=.000), as well as a lower blood flow rate in the pulmonary artery (SGA 0.85m/s vs. 0.97m/s; P=.045). No significant difference was observed in the patients' left ventricular function. SGA patients' ascending aortic diameter was greater (SGA Z-score -1.09 vs. -1.93; P=.026), whereas the systolic abdominal aortic diameter was smaller (SGA Z-score-0.89 vs. -0.19; P=.015). CONCLUSIONS: We found functional and morphological cardiac changes in SGA school-age patients treated with GH. It is important to follow-up this patient group in order to determine if these changes contribute to an increased cardiac morbidity in adulthood.

[Effects of growth hormone treatment on anthropometrics, metabolic risk, and body composition variables in small for gestational age patients]. / Modificaciones en variables antropométricas, analíticas de riesgo metabólico y composición corporal en pequeños para la edad gestacional en tratamiento con hormona de crecimiento.

INTRODUCTION AND OBJECTIVES: Small for gestational age (SGA) children without catch-up growth can benefit from treatment with growth hormone (rhGH). However, they should be monitored very closely because they are at increased risk of metabolic syndrome. MATERIAL AND METHOD: A group of 28 SGA children with a mean age of 8.79 years and undergoing treatment with rhGH were selected for evaluation. Over the course of 4 years, an annual evaluation was performed on the anthropometric variables (weight, height, body mass index [BMI], growth rate, blood pressure and waist perimeter), metabolic risk variables (glycaemia, glycosylated haemoglobin, cholesterol ratio, insulinaemia, insulin-like growth factor 1[IGF1], IGF binding protein-3 [IGFBP-3], IGF1/IGFBP3 ratio, and HOMA index), and body composition variables. RESULTS: Treatment with rhGH was associated with a significant increase in height (-2.76±.11 SD to -1.53±.17 SD, P=.000), weight (-1.50±.09 SD to -1.21±.13 SD; P=.016), and growth rate (-1.43±.35 SD to .41±.41 SD; P=.009), without a corresponding change in the BMI. Insulinaemia (9.33±1.93mU/ml to 16.55±1.72mU/ml; P=.044) and the HOMA index (3.63±.76 to 6.43±.67; P=.042) increased, approaching insulin resistance levels. No changes were observed in the lipid profile. Body composition changes were observed, with a significant increase in lean mass (73.19±1.26 to 78.74±1.31; P=.037), and a reduction of fat mass (26.81±1.26 to 21.26±1.31; P=.021). CONCLUSION: Treatment with rhGH is effective for improving anthropometric variables in SGA patients who have not experienced a catch-up growth. It also produces changes in body composition, which may lead to a reduction in risk of metabolic syndrome. However, some insulin resistance was observed. It is important to follow up this patient group in order to find out whether these changes persist into adulthood.

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.

[Body composition and metabolic risk in small for gestational age children treated with growth hormone]. / Composición corporal y riesgo metabólico en niños pequeños para la edad gestacional en tratamiento con hormona del crecimiento.

BACKGROUND AND OBJECTIVES: Small for gestational age (SGA) children are at increased risk of metabolic syndrome. Our objective is to evaluate changes in body composition produced by growth hormone (GH) treatment. PATIENTS AND METHOD: A group of 28 SGA children without catch-up growth and undergoing treatment with GH was selected for evaluation. Over the course of 3 years from the beginning of the treatment with GH, the children's body composition variables (bone mineral density [BMD], fat and lean body mass proportion) were evaluated annually with dual-energy X-ray absorptiometry. A study of correlation between metabolic and body composition variables was also made. RESULTS: Treatment with GH produces a reduction in fat mass proportion in relation to lean body mass, decreasing from 25.94±6.09 to 22.88±5.38% (P=.034). In the abdominal regions we observe an increase in lean mass, from 1,356,91±426,71 to 2,570,96±814,36g (P=.000) and a tendency for visceral fat deposits to decrease. BMD in lumbar vertebrae improved from -1.55±0.68 to -0.90±0.79Z (P=.019). CONCLUSIONS: Treatment with GH produces changes in body composition, improving BMD and increasing the proportion of lean body mass with a reduction in fat mass. If these changes persisted into adulthood, they may cause a reduction in the metabolic and cardiovascular risk in this group of patients.

Dificultad respiratoria en el servicio de urgencias como manifestación de una enfermedad cardíaca rara en niños: origen anómalo de la arteria coronaria izquierda en la arteria pulmonar / Respiratory distress in the emergency department as a sign of rare heart disease in a child: Anomalous origin of the left coronary artery from the pulmonary artery

No disponible

Modificaciones en variables antropométricas, analíticas de riesgo metabólico y composición corporal en pequeños para la edad gestacional en tratamiento con hormona de crecimiento / Effects of growth hormone treatment on anthropometrics, metabolic risk, and body composition variables in small for gestational age patients

INTRODUCCIÓN: Los niños pequeños para la edad gestacional (PEG) sin crecimiento recuperador pueden beneficiarse del tratamiento con hormona de crecimiento (rhGH). Sin embargo, deben ser monitorizados de forma muy estrecha ya que son población de riesgo metabólico. MATERIAL Y MÉTODOS: Se han incluido 28 niños PEG, con una media de edad de 8,79 años, sin crecimiento recuperador, tratados con rhGH. Hemos evaluado las modificaciones producidas en la antropometría, variables de riesgo metabólico y composición corporal durante 4 años de tratamiento. RESULTADOS: El tratamiento con rhGH se acompañó de un aumento de talla (-2,76 ± 0,11 DE hasta -1,53 ± 0,17 DE; p = 0,000), peso (-1,50 ± 0,09 DE hasta -1,21 ± 0,13 DE; p = 0,016) y velocidad de crecimiento (-1,43 ± 0,35 DE hasta 0,41 ± 0,41 DE; p = 0,009), sin producir modificaciones en el índice de masa corporal (IMC). Se han visto aumentos significativos de la insulinemia (9,33 ± 1,93 mU/ml hasta 16,55 ± 1,72 mU/ml; p = 0,044) y del índice HOMA (3,63 ± 0,76 hasta 6,43 ± 0,67; p = 0,042), sin producirse modificaciones en el perfil lipídico. En el estudio de composición corporal se ha comprobado un aumento significativo de la masa magra (73,19 ± 1,26 hasta 78,74 ± 1,31; p = 0,037) con una disminución de la masa grasa (26,81 ± 1,26 hasta 21,26 ± 1,31; p = 0,021). CONCLUSIÓN: El tratamiento con rhGH se ha acompañado de una ganancia en la talla sin producir alteraciones en el IMC. Asimismo, se han observado cambios en la composición corporal, con un aumento de la proporción de masa magra a expensas de una disminución de la de masa grasa, que podrían conducir a un descenso del riesgo metabólico de estos pacientes. Sin embargo, se ha detectado cierta resistencia insulínica. Es importante continuar el seguimiento de estos niños para determinar las posibles repercusiones en la edad adulta

INTRODUCTION AND OBJECTIVES: Small for gestational age (SGA) children without catch-up growth can benefit from treatment with growth hormone (rhGH). However, they should be monitored very closely because they are at increased risk of metabolic syndrome. MATERIAL AND METHOD: A group of 28 SGA children with a mean age of 8.79 years and undergoing treatment with rhGH were selected for evaluation. Over the course of 4 years, an annual evaluation was performed on the anthropometric variables (weight, height, body mass index [BMI], growth rate, blood pressure and waist perimeter), metabolic risk variables (glycaemia, glycosylated haemoglobin, cholesterol ratio, insulinaemia, insulin-like growth factor 1[IGF1], IGF binding protein-3 [IGFBP-3], IGF1/IGFBP3 ratio, and HOMA index), and body composition variables. RESULTS: Treatment with rhGH was associated with a significant increase in height (-2.76 ± .11 SD to -1.53 ± .17 SD, P=.000), weight (-1.50 ± .09 SD to -1.21 ± .13 SD; P = .016), and growth rate (-1.43 ± .35 SD to .41 ± .41 SD; P=.009), without a corresponding change in the BMI. Insulinaemia (9.33 ± 1.93 mU/ml to 16.55 ± 1.72 mU/ml; P = .044) and the HOMA index (3.63 ± .76 to 6.43 ± .67; P = .042) increased, approaching insulin resistance levels. No changes were observed in the lipid profile. Body composition changes were observed, with a significant increase in lean mass (73.19 ± 1.26 to 78.74 ± 1.31; P = .037), and a reduction of fat mass (26.81 ± 1.26 to 21.26 ± 1.31; P = .021). CONCLUSION: Treatment with rhGH is effective for improving anthropometric variables in SGA patients who have not experienced a catch-up growth. It also produces changes in body composition, which may lead to a reduction in risk of metabolic syndrome. However, some insulin resistance was observed. It is important to follow up this patient group in order to find out whether these changes persist into adulthood

Evaluación de la función cardiaca en un grupo de niños pequeños para la edad gestacional en edad escolar en tratamiento con hormona de crecimiento / Evaluation of cardiac function in a group of small for gestational age school-age children treated with growth hormone

Introducción y objetivos: Los pacientes pequeños para la edad gestacional (PEG) son población de riesgo para el desarrollo de enfermedad cardiovascular y síndrome metabólico. Nuestro objetivo es estudiar la morfología y la función cardiaca en un grupo de niños PEG en edad escolar en tratamiento con growth hormone (GH, «hormona de crecimiento»). Métodos: Se han incluido en el estudio 23 pacientes PEG y 23 controles sanos. Se valoró peso, talla, presión arterial y frecuencia cardiaca. Mediante ecocardiografía transtorácica se evaluó el tamaño de las cavidades cardiacas, el diámetro de la aorta ascendente y abdominal y parámetros de función biventricular. Resultados: Los niños PEG presentan mayores percentiles de presión arterial sistólica y diastólica (p < 0,05), sin cambios significativos en la frecuencia cardiaca. Tienen un mayor diámetro del septo interventricular (Z-score 1,57 en PEG frente a 0,89; p = 0,026) y una peor función sistólica del ventrículo derecho, con un TAPSE inferior (Z-score −0,98 en PEG frente a 0,95; p = 0,000) y una menor velocidad sanguínea en arteria pulmonar (0,85 m/s en PEG frente a 0,97 m/s; p = 0,045). No se han encontrado diferencias en la función del ventrículo izquierdo. El diámetro de la aorta ascendente es mayor en PEG (Z-score−1,09 frente a−1,93; p = 0,026), mientras que el diámetro de la aorta abdominal en sístole es menor (Z-score −0,89 frente a −0,19; p = 0,015). Conclusiones: Se han observado cambios significativos en la morfología y la función cardiaca en niños PEG en edad escolar tratados con GH. Es importante continuar en ellos un seguimiento para determinar si estas alteraciones contribuyen a un aumento de morbilidad cardiaca en la edad adulta (AU)

Introduction and objectives: Small for gestational age (SGA) patients have an increased risk of developing a cardiovascular pathology, as well as a metabolic syndrome. Our objective is to evaluate the cardiac morphology and function of SGA children treated with growth hormone (GH), identifying changes that could potentially have long-term consequences. Methods: We selected 23 SGA school-age patients and 23 healthy children. We measured their weight, height, blood pressure and heart rate. Using transthoracic echocardiography, we evaluated cardiac chamber size, ascending and abdominal aortic diameter as well as the systolic and diastolic function of both ventricles. Results: SGA children have a higher systolic and diastolic blood pressure (P < .05) without significant changes in their heart rate. They also have a thicker interventricular septum (SGA Z-score 1.57 vs. 0.89; P = .026) and a worse right ventricular systolic function, with a lower TAPSE (SGA Z-score −0.98 vs. 0.95; P = .000), as well as a lower blood flow rate in the pulmonary artery (SGA 0.85 m/s vs. 0.97 m/s; P = .045). No significant difference was observed in the patients’ left ventricular function. SGA patients’ ascending aortic diameter was greater (SGA Z-score −1.09 vs. −1.93; P = .026), whereas the systolic abdominal aortic diameter was smaller (SGA Z-score−0.89 vs. −0.19; P = .015). Conclusions: We found functional and morphological cardiac changes in SGA school-age patients treated with GH. It is important to follow-up this patient group in order to determine if these changes contribute to an increased cardiac morbidity in adulthood (AU)

Composición corporal y riesgo metabólico en niños pequeños para la edad gestacional en tratamiento con hormona del crecimiento / Body composition and metabolic risk in small for gestational age children treated with growth hormone

Antecedentes y objetivos: Los niños pequeños para la edad gestacional (PEG) constituyen un grupo de riesgo para desarrollar síndrome metabólico. El objetivo de este estudio es evaluar las modificaciones que produce el tratamiento con growth hormone (GH, «hormona de crecimiento») en la composición corporal. Pacientes y método: Se analizan diversas variables antropométricas y de riesgo metabólico en una muestra de 28 niños PEG sin crecimiento recuperador. De forma anual desde el inicio del tratamiento con GH y durante 3 años se miden, mediante densitometría, diferentes variables de composición corporal: densidad mineral ósea (DMO), proporción de masa magra y masa grasa corporal y en la región abdominal. Se ha realizado un estudio de correlación entre variables metabólicas y de composición corporal. Resultados: El tratamiento con GH produce una disminución de la proporción de masa grasa con respecto a la masa magra en el cuerpo entero, con una disminución del porcentaje de grasa total desde 25,94±6,09 hasta 22,88±5,38% (p=0,034). En la región abdominal se observa un aumento de la masa magra desde 1.356,91±426,71 hasta 2.570,96±814,36g (p=0,000) y una tendencia a disminuir el depósito de grasa visceral. La DMO en la región lumbar mejora desde −1,55±0,68 hasta −0,90±0,79Z (p=0,019). Conclusiones: El tratamiento con GH produce cambios en la composición corporal con mejoras en la DMO y un aumento de la masa magra a expensas de la masa grasa. Estas modificaciones, de persistir en la edad adulta, podrían disminuir el riesgo metabólico y cardiovascular de estos pacientes (AU)

Background and objectives: Small for gestational age (SGA) children are at increased risk of metabolic syndrome. Our objective is to evaluate changes in body composition produced by growth hormone (GH) treatment. Patients and method: A group of 28 SGA children without catch-up growth and undergoing treatment with GH was selected for evaluation. Over the course of 3 years from the beginning of the treatment with GH, the children's body composition variables (bone mineral density [BMD], fat and lean body mass proportion) were evaluated annually with dual-energy X-ray absorptiometry. A study of correlation between metabolic and body composition variables was also made. Results: Treatment with GH produces a reduction in fat mass proportion in relation to lean body mass, decreasing from 25.94±6.09 to 22.88±5.38% (P=.034). In the abdominal regions we observe an increase in lean mass, from 1,356,91±426,71 to 2,570,96±814,36g (P=.000) and a tendency for visceral fat deposits to decrease. BMD in lumbar vertebrae improved from −1.55±0.68 to −0.90±0.79Z (P=.019). Conclusions: Treatment with GH produces changes in body composition, improving BMD and increasing the proportion of lean body mass with a reduction in fat mass. If these changes persisted into adulthood, they may cause a reduction in the metabolic and cardiovascular risk in this group of patients (AU)