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.

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.

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.

[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.

Estudio clínico comparativo de la asociación dibencozide-tiocolchicósido versus la asociación B1-B6-B12 en el tratamiento de la lumbalgia aguda / Comparative clinical study of dibencozide thiocolchicoside combination versus B1-B6-B12 combination in the treatment of backache

Se realizó un estudio comparativo para evaluar los efectos terapéuticos de dibencozide + tiocolchicósido y B1-B6-B12, ambos por vía I.M., en el tratamiento de lumbalgia aguda y/o crónica reagudizada. Los pacientes fueron comparables en edad y en severidad del cuadro que motiva la consulta; el grupo que recibió B1-B6-B12 estuvo conformado por un mayor número de pacientes de sexo masculino, mientras que el otro grupo estuvo conformado por un mayor número de pacientes de sexo femenino. Se evaluaron los parámetros dolor, limitación funcional y contractura muscular articular, inclusive su intensidad, encontrándose que hubo mejoría muy superior en el grupo que recibió dibencozide + tiocolchicósido respecto al grupo que recibió B1-B6-B12, que mostró una mejoría muy pobre. La tolerancia general y local fue muy buena en ambos grupos. Se concluye que el uso de dibencozide + tiocolchicósido es de gran utilidad en el tratamiento del síndrome lumbalgia aguda, con una excelente tolerancia; de acuerdo a los presentes resultados, su efecto terapéutico es superior al de B1-B6-B12 en el tratamiento de lumbalgia aguda