Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.

Non-immune hydrops fetalis represents the end-stage status of a variety of diseases, including metastatic tumors. We report a case of non-immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non-immune hydrops fetalis associated with multiple nodular lesions.

Papel de la ecocardiografía speckle-tracking (rastreo de marcas) y la resonancia magnética cardíaca-feature tracking en la circulación de Fontan. Diferencias entre los ventrículos derecho e izquierdo / Speckle-tracking echocardiography and MCR-feature tracking in Fontan circulation. Differences between right and left ventricles

Resumen Introducción: En los pacientes con DCPT, la disfunción ventricular es inevitable, y más temprana en VU derechos. La deformación miocárdica por STE y RMC-FT parece promisoria. Objetivo: Analizar la función ventricular mediante STE y RMC-FT en pacientes con DCPT, en comparación con RMC convencional según la morfología del VU y la posible implicación en su diagnóstico temprano. Método: Se recogieron medidas del strain longitudinal y circunferencial por STE y RMC-FT, volúmenes ventriculares y FE por RMC en 64 pacientes con DCPT. Resultados: La morfología ventricular no se relacionó con disfunción por RMC. Los VU derechos tuvieron valores por STE y RMC-FT disminuidos respecto de los VU izquierdos, con FE similares. Existe correlación entre STE y RMC-FT, no equivalentes, con buena factibilidad y reproducibilidad. Conclusiones: La RMC-FT y el STE son técnicas útiles en el diagnóstico temprano y la vigilancia de la función ventricular en VU derechos con FE preservada.

Abstract Introduction: In patients with TCPC, the development of ventricular dysfunction is inevitable and is more precocious in SRVs. Myocardial deformation by STE and CMR-FT is promising. Objective: To analize ventricular function in patients with TCPC using STE and CMR-FT compared with conventional cMRI, depending on SV morphology, to determine their role in early diagnosis of ventricular dysfunction. Method: Sixty-four patients with TCPC were included. Longitudinal and circumferential strain by STE and CMR-FT and ventricular volume and EF were obtained. Results: Dysfunction analyzed by cMRI showed no association with ventricular morphology. SRVs had lower values in STE and CMR-FT compared with SLVs, with similar EF. While not equivalent, correlation was observed between the STE and the CMR-FT values, demonstrating good feasibility and reproducibility. Conclusion: The strain data in CMR-FT and STE could be useful for diagnosis and monitoring of ventricular function and as markers of early SRV dysfunction with preserved EF.

Postoperative Pneumoperitoneum in Pediatric Patients: Residual Air or Surgical Complication? A Prospective Study.

Background: Residual postoperative pneumoperitoneum (RPP) can be confused with postoperative complications. Our aim was to study RPP characteristics in pediatric patients. Materials and Methods: Prospective study in children with noncomplicated appendicitis, from July to December 2019, divided into open appendectomy (OA) or laparoscopic appendectomy (LA). Abdominal ultrasounds were performed daily to assess RPP. Demographic, surgical data, and RPP characteristics were analyzed. Results: Forty-one patients (63% male) aged 9.8 ± 2.9 years were included: 19 had OA and 22 LA. RPP was present in 90.9% of LA patients versus 21.1% of OA (P < .001). RPP disappeared by the postoperative day (POD) 2, in all OA patients. RPP was present in 90.9% of LA patients in POD 1, 53.8% on POD 2, 25% on POD 3, and in no patient from POD 4. RPP prevalence was not associated with surgical duration, age, gender, or type of appendicitis. RPP was associated with pain radiating to the shoulders (PRS) (P = .018), with a sensitivity of 50.0% and specificity of 88.23% for diagnosis. Conclusions: Surgical approach was the main factor associated with RPP persistence. PRS in the physical examination may be helpful for diagnosis when RPP is suspected. The persistence of RPP beyond POD 4 is uncommon, and should be considered when making decisions.

Predictors of atrial tachyarrhythmias in adults with congenital heart disease.

BACKGROUND: Atrial tachyarrhythmias (ATs) represent the major late complications of congenital heart diseases (CHDs) following surgery. Little is known about the association between echocardiographic parameters and AT. AIMS: This study aimed to investigate a potential correlation among clinical, echocardiographic, and electrocardiographic parameters and AT as well as to analyze outcomes in adults with CHD and AT. METHODS: A retrospective case­control study was performed in adults with CHD. We included 71 patients with AT and 71 control individuals matched by sex, age, and the type of CHD without AT, all from the same institute. Medical records, electrocardiograms, and echocardiograms were reviewed. Adverse cardiovascular events were recorded and defined as cardiovascular mortality, admission for heart failure, or stroke. The univariate and multivariate logistic regression analysis of possible risk factors and the Kaplan-Meier analysis of adverse cardiovascular events were performed. RESULTS: Subpulmonary ventricular systolic pressure≥40 mm Hg (hazard ratio [HR], 6.8; 95% CI, 2.4-18; P <0.001), right atrial dilatation≥21 cm2 (HR, 3.1; 95% CI, 1.2-7.6; P = 0.01), and significant tricuspid regurgitation (HR, 4; 95% CI, 1.3-10; P = 0.02) were identified as the main risk factors for AT. Patients with AT had worse outcomes, more frequently developed adverse cardiovascular events (86% vs 14%; P <0.01), and exhibited a 58% event­free survival rate compared with 98% of the patients without AT after 8 years of follow­up (log rank, 6.6; P = 0.01). CONCLUSIONS: Among patients with CHD, the main risk factors for AT include right atrial dilatation, high subpulmonary ventricular systolic pressure, and significant tricuspid regurgitation. The presence of AT may increase the risk of adverse cardiac events.

Unusual distal right pulmonary artery origin from right ductus arteriosus with uncommon left-sided aortic arch / Inusual origen de la parte distal de la arteria pulmonar derecha en un ductus arterioso derecho en arco aórtico izquierdo no común

Abstract A bilateral persistent ductus arteriosus with right proximal pulmonary artery agenesis is a very unusual anatomic variant. These malformations are assumed to occur during the transformation of the sixth aortic arch with the pulmonary trunk in the development of the aorta and its branches. A 2-months preterm baby was referred by severe bronchopulmonary dysplasia. Transthoracic echocardiography showed a large pulmonary trunk and left pulmonary artery. No right proximal pulmonary artery was found. Cardiac computed tomography study showed bilateral ductus arteriosus. The right proximal pulmonary artery was originated from an arterial structure coming off the right subclavian artery, a right ductus arteriosus. The aortic arch was left-sided, with a peculiar variant at the exit of the supraaortic vessels. Right subclavian artery emerged as the first supraaortic vessel, followed by a common trunk, giving rise to both carotids and the left subclavian artery as the last vessel. Right lung was hypoplastic with interstitial disease. The calibre of the right proximal pulmonary artery was inadequate to perform a corrective surgery. LDA closure was performed, keeping a prostaglandin infusion to maintain right ductus arteriosus patency until right proximal pulmonary artery size will be big enough to perform a successful surgical reconstruction. Unfortunately, right ductus arteriosus became narrow at its origin and she developed severe pulmonary hypertension and the patient died.

Resumen El ductus arterioso bilateral con agenesia proximal de la arteria pulmonar derecha es una variante anatómica rara producida por alteraciones de la transformación del sexto arco aórtico en las arterias pulmonares, la aorta y sus vasos, durante el desarrollo embrionario. Se presenta el caso de un bebé prematuro de dos meses, que fue derivado a nuestro hospital por displasia broncopulmonar severa. El ecocardiograma transtorácico no identificó el origen de la arteria pulmonar derecha. El estudio por tomografía computarizada cardiaca mostró ductus arterioso bilateral e identificó el origen distal de la arteria pulmonar derecha en una rama de la arteria subclavia derecha, identificada como ductus arterioso derecho. El pulmón derecho era hipoplástico y presentaba alteraciones intersticiales. A su vez, el patrón de los vasos supraaórticos era anómalo. El primer vaso correspondió a la arteria subclavia derecha, seguido por tronco común de ambas carótidas y por último la arteria subclavia izquierda. El calibre de la arteria pulmonar derecha fue inadecuado para realizar una cirugía correctiva, por lo cual se decidió cerrar el ductus arterioso izquierdo y mantener infusión de prostaglandina hasta que la arteria pulmonar derecha tuviera un calibre adecuado para la cirugía. Infortunadamente, el ductus arterioso derecho se cerró en su origen, desarrollándose hipertensión pulmonar severa y la paciente falleció.

Fístula coronaria congénita gigante / Large congenital coronary fistula

No disponible

Sudden cardiac arrest as first symptom of a benign cardiac tumor growth / Muerte súbita como primer síntoma de crecimiento de tumor cardíaco benigno

Abstract Primary cardiac tumors are rare, especially in the pediatric age. Most of them are benign in the sense they are not invasive. However, benign tumors maintain the potential for serious illness related to significant hemodynamic compromise or life-threatening dysrhythmias. We present the case of an infant with an initial diagnosis of cardiac rhabdomyoma who suffered ventricular arrhythmia and cardiac arrest. He suffered irreversible severe neurologic sequelae, due to his prolonged cardiopulmonary arrest and was finally diagnosed of cardiac fibroma. Good arrhythmia control was obtained after an extensive partial surgical resection of the tumor. This case highlights the importance of arrhythmia burden in this condition. A correct diagnosis based essentially in different imaging modalities and closer clinical and rhythm follow up could have avoided this ominous event.

Resumen Los tumores cardíacos primarios son raros, especialmente en la edad pediátrica. La mayoría de ellos son benignos, en el sentido de que no son invasivos. Sin embargo, los tumores benignos tienen el potencial para producir enfermedades graves que pueden causar compromiso hemodinámico significativo o arritmias potencialmente letales. Se presenta el caso de un niño con un diagnóstico inicial de rabdomioma cardíaco, quien sufrió una arritmia ventricular y una parada cardíaca. Tuvo secuelas neurológicas severas irreversibles debido al tiempo prolongado en parada cardiorrespiratoria y se le diagnosticó finalmente fibroma cardíaco. Se obtuvo un buen control de las arritmias después de una extensa resección parcial del tumor. Este caso pretende subrayar la importancia del riesgo de aparición de arritmias en esta situación. El diagnóstico correcto basado fundamentalmente en el uso de distintas modalidades de imagen y el seguimiento clínico y arritmológico, podrían haber evitado este desenlace fatal.

Retrocardiac lung lobe in a neonate with Scimitar syndrome.

Scimitar syndrome is a rare congenital disorder which is associated with right lung developmental abnormalities, mainly hypoplastic right lung. We present the case of a neonate with a retrocardiac lung lobe that, to the best of our knowledge, has not been described yet. Multimodality imaging can establish the diagnosis and enable a correct description of this anomaly and its anatomical varieties.

Tomografía computarizada con multidetectores en las anomalías congénitas del arco aórtico: anillos vasculares / Multidetector computed tomography for congenital anomalies of the aortic arch: vascular rings

El desarrollo de la tomografía computarizada con multidetectores ha supuesto una revolución en el estudio de la aorta y los grandes vasos y ha sustituido a la angiografía para diagnosticar las anomalías congénitas del arco aórtico, en particular los anillos vasculares. La tomografía computarizada con multidetectores ofrece la gran ventaja de que se puede evaluar nítidamente y en tres dimensiones no solo las estructuras vasculares, sino también la compresión en la vía aérea y el esófago. Queremos hacer un abordaje del desarrollo embriológico del arco aórtico y de las anomalías en su desarrollo que determinan la formación de anillos vasculares y ofrecer un enfoque actual del papel de la tomografía computarizada con multidetectores para su abordaje diagnóstico y terapéutico (AU)

The development of multidetector computed tomography has triggered a revolution in the study of the aorta and other large vessels and has replaced angiography in the diagnosis of congenital anomalies of the aortic arch, particularly vascular rings. The major advantage of multidetector computed tomography is that it permits clear 3-dimensional assessment of not only vascular structures, but also airway and esophageal compression. The current update aims to summarize the embryonic development of the aortic arch and the developmental anomalies leading to vascular ring formation and to discuss the current diagnostic and therapeutic role of multidetector computed tomography in this field (AU)

Multidetector Computed Tomography for Congenital Anomalies of the Aortic Arch: Vascular Rings.

The development of multidetector computed tomography has triggered a revolution in the study of the aorta and other large vessels and has replaced angiography in the diagnosis of congenital anomalies of the aortic arch, particularly vascular rings. The major advantage of multidetector computed tomography is that it permits clear 3-dimensional assessment of not only vascular structures, but also airway and esophageal compression. The current update aims to summarize the embryonic development of the aortic arch and the developmental anomalies leading to vascular ring formation and to discuss the current diagnostic and therapeutic role of multidetector computed tomography in this field.

Cortical hyperostosis as a side-effect of prolonged use of prostaglandins.

Cortical hyperostosis is a very uncommon side-effect of prolonged prostaglandin therapy with distinctive radiological signs that may be accompanied by painful swelling of the limbs and responds rapidly to withdrawal of therapy.

Usefulness of 64-detector computed tomography in the diagnosis and management of patients with congenital heart disease.

INTRODUCTION AND OBJECTIVES: Although congenital heart defects are the most common major congenital abnormalities, the associated mortality has been decreasing due to improvements in their diagnosis and treatment. We assessed the usefulness of 64-multidetector computed tomography in the diagnosis and management of these patients. METHODS: This 5-year observational, analytical, retrospective, cohort study included a total of 222 tomographic studies of patients with congenital heart disease. Computed tomography scans were read twice and medical records were reviewed. We assessed the complexity of the disease, patient, and radiological technique, and evaluated the contribution of new data in relation to clinical suspicion and diagnostic change. A confidence interval was set at 95% and a P value of<.05 was used as the cutoff for statistical significance. RESULTS: In 35.1% of patients, the treatment procedure was performed after computed tomography without other tests. Additional diagnostic catheterization was performed in 12.5% of patients. There were new findings in 77% of patients (82.9% with complex disease), which prompted a change in patient management in 35.6%. All unexpected reports described new findings. No significant differences were found by age, sex, study period, urgency of the test order, patient complexity, or difficulty of the technique. CONCLUSIONS: Use of 64-detector computed tomography yields good diagnostic performance in congenital heart disease, prompts changes in management in more than one-third of patients, and reveals new findings in relation to the presumed diagnosis in 77% of patients.

Utilidad de la tomografía computarizada de 64 detectores en el diagnóstico y el manejo de los pacientes con cardiopatías congénitas / Usefulness of 64-detector computed tomography in the diagnosis and management of patients with congenital heart disease

Introducción y objetivos Las cardiopatías congénitas son las malformaciones congénitas mayores más frecuentes, y su mortalidad ha ido disminuyendo con las mejoras en el diagnóstico y el tratamiento. Se ha valorado la utilidad de la tomografía computarizada de 64 detectores en el diagnóstico y el manejo de estos pacientes. Métodos Estudio observacional analítico sobre una cohorte retrospectiva (5 años). Se incluyeron 222 estudios de tomografía de pacientes con cardiopatías congénitas. Se realizó doble lectura de los casos y revisión de historias clínicas. Se determinó la complejidad de la cardiopatía, del paciente y de la técnica radiológica. Se valoró la aportación de datos nuevos sobre la sospecha clínica y el cambio de diagnóstico. Se fijó un intervalo de confianza del 95% y p < 0,05 como valor umbral de la significación estadística de las asociaciones. Resultados En el 35,1% de los casos, se realizó procedimiento terapéutico tras tomografía sin otras pruebas. Se realizó cateterismo diagnóstico complementario al 12,5%. Se observaron nuevos hallazgos en el 77% de los casos (el 82,9% con enfermedad compleja), que motivaron cambio de manejo del paciente en el 35,6%. Todos los diagnósticos no esperados resultaron nuevos hallazgos. No se detectaron diferencias significativas por edad, sexo, periodo de estudio, urgencia de la petición, dificultad de los pacientes o técnica empleada. Conclusiones La tomografía computarizada de 64 detectores tiene buena capacidad diagnóstica en cardiopatías congénitas, cambia su manejo en más de un tercio de los pacientes y pone de manifiesto hallazgos nuevos sobre la sospecha inicial en el 77% de los casos

Introduction and objectives Although congenital heart defects are the most common major congenital abnormalities, the associated mortality has been decreasing due to improvements in their diagnosis and treatment. We assessed the usefulness of 64-multidetector computed tomography in the diagnosis and management of these patients. Methods This 5-year observational, analytical, retrospective, cohort study included a total of 222 tomographic studies of patients with congenital heart disease. Computed tomography scans were read twice and medical records were reviewed. We assessed the complexity of the disease, patient, and radiological technique, and evaluated the contribution of new data in relation to clinical suspicion and diagnostic change. A confidence interval was set at 95% and a P value of < .05 was used as the cutoff for statistical significance. Results In 35.1% of patients, the treatment procedure was performed after computed tomography without other tests. Additional diagnostic catheterization was performed in 12.5% of patients. There were new findings in 77% of patients (82.9% with complex disease), which prompted a change in patient management in 35.6%. All unexpected reports described new findings. No significant differences were found by age, sex, study period, urgency of the test order, patient complexity, or difficulty of the technique. Conclusions: Use of 64-detector computed tomography yields good diagnostic performance in congenital heart disease, prompts changes in management in more than one-third of patients, and reveals new findings in relation to the presumed diagnosis in 77% of patients

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in FLNA should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance.

Multiple congenital ectatic and fusiform arterial aneurysms associated with lower limb hypoplasia.

Aneurysmal disease is uncommon in children, and its presence often leads to suspicion of genetic disorders (Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome, tuberous sclerosis), trauma, and infection. We describe the case of a newborn boy with generalized left lower limb hypoplasia associated with diffuse areas of arteriectasis combined with areas of stenosis and fusiform aneurysms of the iliac, femoral, and popliteal arteries. No additional vascular territories were affected. The patient was asymptomatic, and no therapeutic intervention has been considered. Numerous complementary imaging and laboratory examinations failed to establish a definitive diagnosis. This collection of findings has not been previously reported.