Scimitar Syndrome in a Pediatric Cohort.

BACKGROUND: Scimitar syndrome is a rare form of congenital heart disease (CHD) characterized by anomalous pulmonary venous drainage of the right lung to the inferior vena cava. We describe the presentation, diagnosis, therapeutic management and long-term follow-up of 10 pediatric patients with Scimitar Syndrome. METHODS: We performed a retrospective observational study of all pediatric patients from our institution with scimitar syndrome (March 1996-July 2023). Patients underwent systematic evaluation including medical and family history, chest x-ray, 12-lead electrocardiogram, echocardiogram, angiography and/or computed tomography; or magnetic resonance angiography. RESULTS: Ten patients with scimitar syndrome were included. The median age at diagnosis was 10.4 [0.1-150.2] months and the median follow-up time was 7.7 [1.3-15.3] years. Eight patients presented with aortopulmonary collateral arteries which were embolized. Two patients had dual connections to the inferior vena cava and left atrium; embolization of the inferior vena cava connection was only feasible in one of them. No patients underwent surgery of the scimitar vein. Three patients had surgical correction of CHDs. There were no deaths related to scimitar syndrome during follow-up. CONCLUSIONS: All patients with scimitar syndrome need prompt cardiovascular evaluation and follow-up. Our study demonstrates that a conservative approach with aortopulmonary collateral artery embolization, scimitar vein embolization when dual drainage to the left atrium is identified, along with correction of concomitant CHDs might have good results in patients with scimitar syndrome in order to postpone surgical correction of the anomalous pulmonary venous return to an older age when clinically or hemodynamically indicated. Further studies with longer-term follow-up and a larger sample size are needed to more effectively determine treatment strategy.

Myhre syndrome: expanding its paediatric phenotypic spectrum.

Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatric cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome. This confirms and extends the scarce reports describing the association between these two entities.

Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy.

We report a case of massive ascending aortic dilatation in a patient with generalized arterial calcification of infancy (GACI). He was found to carry compound heterozygous mutations in ABCC6 gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both entities.

Mid-aortic Syndrome in a Pediatric Cohort.

Mid-aortic syndrome (MAS) is an uncommon condition characterized by severe narrowing of the abdominal aorta, usually involving visceral and renal arteries. Most patients are asymptomatic and typically present with incidental hypertension which might evolve into end-organ damage if untreated. Our aim was to review 8 new pediatric MAS cases. A retrospective observational study of all pediatric patients with MAS diagnosis (April 1992-November 2021) was conducted. Patients underwent systematic evaluation (medical and family history; 12-lead electrocardiogram; echocardiogram; angiography and/or computed tomography or magnetic resonance angiography). 8 pediatric patients with MAS were included. Median age at diagnosis was 2.6 [0.2-4.7] years; median follow-up time was 8.6 [6.6-10.0] years. 6/8 patients presented with incidental hypertension, 1/8 with heart murmur, and 1/8 with heart failure symptoms. All patients were on antihypertensive treatment. 1/8 patients underwent surgery and 7/8 an endovascular treatment. At the end of the study period, among the 6 patients that underwent a successful endovascular procedure, 2 achieved good blood pressure (BP) control, 2 acceptable BP control, 1 stage 1 hypertension and, another, stage 2 hypertension. There was 1 death during follow-up. BP monitoring in pediatric patients is crucial for early recognition of MAS. Treatment should be based on the individual clinical characteristics of patients with careful planning of surgical revascularisation, if possible, after adult growth is completed. Our study demonstrates that endovascular treatment might be a good alternative to surgery. Nevertheless, further trials with larger sample size and longer-term follow-up are required to determine the best treatment approach.

Ausencia parcial de pericardio: ¿únicamente un hallazgo incidental? / Partial absence of the pericardium: Only an incidental finding?

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Spanish registry of percutaneous VSD closure with NitOcclud Lê VSD Coil device: lessons learned after more than a hundred implants.

INTRODUCTION AND OBJECTIVES: The NitOcclud Lê VSD Coil was specifically designed for transcatheter occlusion of ventricular septal defects (VSD) and became available for this purpose in August 2010. Our objective was to describe the Spanish experience of this technique and analyze its reliability and short- to mid-term efficacy. METHODS: National multicenter observational study, which retrospectively recruited all patients (of any age) with VSD (of any location or type) who underwent percutaneous NitOcclud occlusion, using an intention-to-treat analysis, until January 2019. RESULTS: A total of 117 attempts were made to implant at least 1 NitOcclud in 116 patients in 13 institutions. The median [range] age and weight was 8.6 [0.4-69] years and 27 [5.8-97] kg, respectively. In 99 patients (85%), the VSD was an isolated congenital defect. The location was perimembranous in 95 (81%), and 74 (63%) of them were aneurysmatic. The mean fluoroscopy time was 34 [11.4-124] minutes. Of the 117 attempts, 104 were successful (89%) with a follow-up of 31.4 [0.6-59] months. At the last review, final complete occlusion of the defect without residual shunt or with only a minimal shunt was achieved in 92.3% (no shunt, n=73; trivial shunt, n=23). Four patients required a second procedure for residual shunt occlusion. Two devices had to be surgically explanted due to severe hemolysis. There were no deaths or other major complications. CONCLUSIONS: The NitOcclud device can be used successfully for a wide anatomical spectrum of VSD. The main issue is residual shunt, but its incidence decreases over time. The incidence of hemolysis was very low and no permanent changes were detected in atrioventricular conduction.

Hipertensión pulmonar grave como inicio de la enfermedad metabólica / Severe Pulmonary Hypertension as the Debut of Metabolic Disease

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Aortic thrombosis successfully treated with local recombinant tissue plasminogen activator in a newborn.

Arterial thrombosis in newborns varies depending on the location of the thrombus and can be a life-threatening emergency. We present a case of extensive aorta thrombosis with a left kidney thrombosis in a newborn successful treated with local recombinant tissue-type plasminogen activator.

Characteristics and outcomes of transposition of great arteries in the neonatal period.

INTRODUCTION AND OBJECTIVES: Transposition of the great arteries is a prevalent congenital heart defect with a high survival rate and a good long-term outcome, especially if managed with early surgical intervention during the neonatal period. In this study, our main objective was to describe patient characteristics and outcomes and to identify possible predictors of early and long-term morbidity and mortality. METHODS: Retrospective analysis through review of clinical and surgical charts of patients with transposition of the great arteries admitted to the service of neonatology during 2000-2011. RESULTS: The study included 136 patients; 119 of them had undergone corrective surgery during the neonatal period. Patients were divided into 3 groups: group I, 81 cases of isolated transposition; group II, 24 cases with ventricular septal defect; and group III, 31 with "complex" transposition of the great arteries. The overall postoperative survival was 96.7% (115 of 119 patients); no patients from group I died after surgery. Duration of surgery, intubation, inotropic treatment, and length of stay were higher in patients in groups II and III. The overall survival rate after an average of 6 years of follow-up was 90.4% 123 of 136 patients, with no deaths after discharge in group I. The most frequent residual defect during cardiac follow-up was supravalvular pulmonary stenosis, in 33 of 113 patients that had follow-up data. CONCLUSIONS: In our study, the survival rate was high in patients with transposition of great arteries and especially in those undergoing arterial switch. The number of subsequent residual heart defects was low.

Características y evolución de la transposición de grandes vasos en el periodo neonatal / Characteristics and outcomes of transposition of great arteries in the neonatal period

Introducción y objetivos. La transposición de grandes vasos es una cardiopatía congénita frecuente, con alta supervivencia y escaso número de secuelas, especialmente si se interviene precozmente, en el periodo neonatal. Nuestro objetivo es describir las características y la evolución de los pacientes afectados y determinar posibles factores pronósticos de morbimortalidad precoz y a largo plazo. Métodos. Estudio retrospectivo mediante revisión de historias clínicas y base de datos de los pacientes con transposición de grandes vasos ingresados entre los años 2000 y 2011. Resultados. Ingresaron 136 pacientes afectados de transposición de grandes vasos, de los que 119 se sometieron a cirugía correctora durante el periodo neonatal. Los pacientes se dividieron en tres grupos: grupo I , 81 transposición de grandes vasos simple; grupo II , 24 con comunicación interventricular concomitante, y grupo III , 31 transposiciones «complejas». La supervivencia postoperatoria fue de 96,7% (115 de 119 pacientes), aunque ningún paciente del grupo I falleció. La duración de la cirugía, la intubación y el uso posquirúrgico de inotrópicos y el tiempo de ingreso fueron mayores para los pacientes de los grupos II y III . Tras una media de 6 años de seguimiento, el 90,4% (123 de 136) de los pacientes estaban vivos. La lesión residual más frecuente en el seguimiento fue la estenosis supravalvular pulmonar en 33 de 113 pacientes seguidos. Conclusiones. En nuestro estudio, la supervivencia en el conjunto de pacientes con transposición de grandes vasos, y especialmente los sometidos a switch arterial, es alta. Los pacientes con formas más complejas tienen más complicaciones hospitalarias, pero no tras el seguimiento (AU)

Introduction and objectives. Transposition of the great arteries is a prevalent congenital heart defect with a high survival rate and a good long-term outcome, especially if managed with early surgical intervention during the neonatal period. In this study, our main objective was to describe patient characteristics and outcomes and to identify possible predictors of early and long-term morbidity and mortality. Methods. Retrospective analysis through review of clinical and surgical charts of patients with transposition of the great arteries admitted to the service of neonatology during 2000-2011. Results. The study included 136 patients; 119 of them had undergone corrective surgery during the neonatal period. Patients were divided into 3 groups: group I, 81 cases of isolated transposition; group II, 24 cases with ventricular septal defect; and group III, 31 with "complex" transposition of the great arteries. The overall postoperative survival was 96.7% (115 of 119 patients); no patients from group I died after surgery. Duration of surgery, intubation, inotropic treatment, and length of stay were higher in patients in groups II and III. The overall survival rate after an average of 6 years of follow-up was 90.4% 123 of 136 patients, with no deaths after discharge in group I. The most frequent residual defect during cardiac follow-up was supravalvular pulmonary stenosis, in 33 of 113 patients that had follow-up data. Conclusions. In our study, the survival rate was high in patients with transposition of great arteries and especially in those undergoing arterial switch. The number of subsequent residual heart defects was low (AU)

Utilización de un marcapasos encocavitario por bloqueo cardíaco completo debido a miocarditis por mycoplasma pneumoniae / Use of an encocavitary pacemaker in a patient with complete atrioventricular block due to myocarditis secondary to mycoplasma pneumoniae

Introducción. El bloqueo cardíaco auriculoventricular (BAV) completo en la infancia es una entidad poco frecuente pero potencialmente grave. La etiología más frecuente es la congénita, aunque también se puede presentar de forma adquirida. Hay pocos casos en la literatura de pacientes en edad pediátrica afectos de BAV como primera manifestación de una miocarditis aguda y en la cual se encuentre Mycoplasma pneumoniae como agente etiológico. También son escasas las publicaciones de pacientes pediátricos con esta patología tratados con marcapasos endocavitario. Caso clínico. Niño de 8 años de edad que presenta un episodio comicial e inestabilidad hemodinámica. El paciente es diagnosticado de BAV completo secundario a miocarditis aguda por Mycoplasma pneumoniae. Recibió tratamiento con corticoides, gammaglobulina intravenosa e infusión continua de isoproterenol endovenoso sin obtener respuesta, requiriendo la colocación de un marcapasos endocavitario temporal hasta la recuperación del ritmo sinusal. Comentarios. Determinados autoanticuerpos parece que tienen un papel fundamental en la fisiopatología de la miocarditis aguda. La infección por distintos gérmenes parece actuar como desencadenante de la respuesta autoinmune. De esta forma, parece coherente utilizar un tratamiento inmunosupresor o con gammaglobulinas, aunque no se puede recomendar su uso de forma rutinaria. En cuanto al BAV, puede ser necesario implantar un marcapasos endocavitario en espera de la restitución del ritmo sinusal(AU)

Introduction. Complete atriventricular block (CAB) is a rare but serious condition in children. It is usually congenital, but an acquired form is also well described. The literature on pediatric patients with CAB secondary to Mycoplasma pneumoniae myocarditis is scarce. Moreover, information on the use of an endocavitary pacemaker for children with CAB is very limited. Case Report. An 8-yo boy presented with a generalized tonic-clonic seizure and hemodynamic instability. He was diagnosed with CAB secondary to myocarditis caused by Mycoplasma pneumoniae. He was initially treated with steroids, intravenous immunoglobulins, and continuous infusion isoproterenol with no response, and required the placement of a temporary endocavitary pacemaker until sinus rhythm was recovered. Comments. Specific antibodies play a major role in the pathophysiology of acute myocarditis; infection by different agents could be the trigger of that immune response. The administration of intravenous immunoglobulin therapy for immunomodulation may have a role, although its routine use cannot be recommended. The use of an endocavitary pacemaker may be required until recovery of sinus rhythm(AU)

Tromboembolia pulmonar secundaria al procedimiento de ablación con radiofrecuencia / Pulmonary thromboembolism associated with radiofrequency catheter ablation

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Cierre de la fístula de Blalock-Taussig con dispositivo de Amplatzer tras la operación de Fontan / Clousure of a Blalock-Tausing shunt with an amplatzer device after the Fontan operation

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[Pulmonary thromboembolism after Fontan operation]. / Tromboembolismo pulmonar tras operación de Fontan.

The fatal outcome in an eleven-year-old girl, one month after an extra-cardiac Fontan operation is reported. She was diagnosed with tricuspid atresia and had a Blalock Taussig shunt and a bidirectional Glenn procedure. The Fontan operation was performed using a Dacron conduit, fenestrated with a 6 mm Goretex tube. The first week after the operation she received low molecular weight heparin, then it was stopped and aspirin was started. One month after surgery she was admitted to the hospital because of sudden cyanosis, dyspnea, chest pain and syncope. A diagnosis of left pulmonary artery thrombosis without right to left shunt across the fenestrated tube was made. She was carried to the cardiac catheterization laboratory where a mechanical lysis of the thrombi was attempted. A local infusion of rtPA was started without improvement and she died 3 hours later.

Tromboembolismo pulmonar tras operación de Fontan / Pulmonary thromboembolism after Fontan operation

Se describe la evolución fatal de una niña de 11 años, un mes después de haber sido sometida a una operación de Fontan. Diagnosticada de atresia tricúspide se le realizó, previamente a la corrección, una fístula de BlalockTaussig y un Glenn bidireccional. La operación de Fontan se completó con un conducto extracardíaco de Dacron, fenestrado con un tubo de Goretex® de 6 mm. Tras la cirugía, la primera semana recibió heparina de bajo peso molecular y, a continuación, aspirina. Al mes de la operación ingresó de urgencia con cianosis súbita, disnea, dolor torácico y síncope. Se diagnosticó un tromboembolismo pulmonar, en la arteria pulmonar izquierda, y se procedió a la lisis mecánica del trombo y fibrinólisis local con tPA sin éxito, falleciendo 3 h más tarde (AU)