Síndrome de aorta media congénito en la edad adulta. A propósito de un caso

We present the case of a 35-year-old patient with a diagnosis of congenital middle aortic syndrome corrected in childhood with aortic bypass interposition of a Dacron conduit. During follow-up, she was diagnosed with arterial hypertension, for which antihypertensive treatment was started and a stent was implanted in the conduit. A control CT of the aorta revealed a rib lesion suggestive of osteochondroma that compressed the duct. Cardiac catheterization confirmed hemodynamic stenosis due to extrinsic compression of the rib lesion at the level of the previously implanted stent. The CT imaging study helped to diagnose a complication at the level of the aorta that was  undetected in other imaging techniques.Presentamos el caso de una paciente de 35 años con diagnóstico de síndrome de aorta media congénita corregida en la infancia con bypass aórtico con interposición de un conducto de dacrón. Durante el seguimiento fue diagnosticada de hipertensión arterial por lo que se inició tratamiento antihipertensivo y se implantó un stent en el conducto. En un TC de aorta de control se apreció una lesión costal sugestiva de osteocondroma que comprimía el conducto. Se realizó un cateterismo cardiaco que confirmó la estenosis hemodinámica por compresión extrínseca de la lesión costal a nivel del stent implantado previamente. El estudio con imagen con TC ayudó a diagnosticar una complicación a nivel de la aorta que había pasado desapercibida en otras técnicas de imagen

Spanish cardiac catheterization in congenital heart diseases registry. First official report from the ACI-SEC and the GTH-SECPCC (2020)

Introduction and objectives: The Interventional Cardiology Association of the Spanish Society of Cardiology (ACI-SEC) and the Spanish Society of Pediatric Cardiology Working Group on Interventional Cardiology (GTH-SECPCC) introduce their annual activity report for 2020, the starting year of the pandemic of coronavirus disease (COVID-19). Methods: All Spanish centers with cath labs and interventional activity in congenital heart diseases were invited to participate. Data were collected online, and analyzed by an external company together with members from the ACI-SEC and the GTH-SECPCC. Results: A total of 16 centers participated (all of them public) including 30 cath labs experienced in the management of congenital heart diseases, 7 of them (23.3%) dedicated exclusively to pediatric patients. A total of 1046 diagnostic studies, and 1468 interventional cardiac catheterizations were registered. The interventional procedures were considered successful in 93.4% of the cases with rates of major procedural complications and mortality of 2%, and 0.1%, respectively. The most frequent procedures were atrial septal defect closure (377 cases), pulmonary angioplasty (244 cases), and the percutaneous closure of the patent ductus arteriosus (199 cases). Conclusions: This report is the first publication from the Spanish Cardiac Catheterization in Congenital Heart Diseases Registry. The data recorded are conditioned by the COVID-19 pandemic. Diagnostic cardiac catheterization still plays a key role in this field. Most interventional techniques have reported excellent security and efficacy rates

Estudio y función tiroidea en neonatos y lactantes tras angiocardiografía con contrastes iodados

Tesis doctoral inédita de la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Pediatría. Fecha de lectura: 14-10-9

Percutaneous interventions in Fontan circulation

Introduction and objectives: Different percutaneous interventional procedures are needed to reach and maintain adequate anatomical and physiological conditions for the Fontan circulation. We aim to describe the experience gained at a children's hospital in such interventions, and to analyze the clinical outcomes. Methods: Retrospective study of all patients with Fontan circulation completed between 1995 and 2013. We analyzed the clinical characteristics and the different types of percutaneous interventions performed, considering three different periods of time: before Glenn surgery, between Glenn and Fontan surgeries, and after Fontan was completed. Survival and time to indication of percutaneous interventions in each period were analyzed, as well as the clinical situation at last follow-up. Results: Of the 91 patients analyzed, 46 (50.5%) required percutaneous interventions. The most frequent procedures were pulmonary artery angioplasty and angioplasty of the Fontan conduit. Estimated survival at 10, 20 and 30 years of age was 96.2%, 94.7% and 89.4%, respectively. There were no significant differences in survival of patients undergoing percutaneous interventions or not. Overall survival and time to indication of percutaneous interventions were significantly lower in the group of patients with right morphology systemic ventricle. Patients with fenestrated Fontan required interventions more frequently. At the end of follow-up, 66 patients (72.5%) were asymptomatic, without significant differences between patients who underwent or did not undergo percutaneous interventions. Conclusions: Interventional catheterization procedures are often necessary to reach and maintain the fragile Fontan circulation, mainly in patients with right morphology systemic ventricles and fenestrated Fontan conduits

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Background: Pulmonary arterial hypertension (PAH) is a severe and rare disease with an important genetic background. The influence of genetic testing in the clinical classification of pediatric PAH is not well known and genetics could influence management and prognosis. Objectives: The aim of this work was to identify the molecular fingerprint of PH children in the REgistro de pacientes con HIpertensión Pulmonar PEDiátrica (REHIPED), and to investigate if genetics could have an impact in clinical reclassification and prognosis. Methods: We included pediatric patients with a genetic analysis from REHIPED. From 2011 onward, successive genetic techniques have been carried out. Before genetic diagnosis, patients were classified according to their clinical and hemodynamic data in five groups. After genetic analysis, the patients were reclassified. The impact of genetics in survival free of lung transplantation was estimated by Kaplan–Meier curves. Results: Ninety-eight patients were included for the analysis. Before the genetic diagnoses, there were idiopathic PAH forms in 53.1%, PAH associated with congenital heart disease in 30.6%, pulmonary veno-occlusive disease—PVOD—in 6.1%, familial PAH in 5.1%, and associated forms with multisystemic disorders—MSD—in 5.1% of the patients. Pathogenic or likely pathogenic variants were found in 44 patients (44.9%). After a genetic analysis, 28.6% of the cohort was “reclassified”, with the groups of heritable PAH, heritable PVOD, TBX4, and MSD increasing up to 18.4%, 8.2%, 4.1%, and 12.2%, respectively. The MSD forms had the worst survival rates, followed by PVOD. Conclusions: Genetic testing changed the clinical classification of a significant proportion of patients. This reclassification showed relevant prognostic implications

Seven Additional Patients with <i>SOX17</i> Related Pulmonary Arterial Hypertension and Review of the Literature

Pulmonary arterial hypertension (PAH) is an infrequent disorder characterized by high blood pressure in the pulmonary arteries. It may lead to premature death or the requirement for lung and/or heart transplantation. Genetics plays an important and increasing role in the diagnosis of PAH. Here, we report seven additional patients with variants in SOX17 and a review of sixty previously described patients in the literature. Patients described in this study suffered with additional conditions including large septal defects, as described by other groups. Collectively, sixty-seven PAH patients have been reported so far with variants in SOX17, including missense and loss-of-function (LoF) variants. The majority of the loss-of-function variants found in SOX17 were detected in the last exon of the gene. Meanwhile, most missense variants were located within exon one, suggesting a probable tolerated change at the amino terminal part of the protein. In addition, we reported two idiopathic PAH patients presenting with the same variant previously detected in five patients by other studies, suggesting a possible hot spot. Research conducted on PAH associated with congenital heart disease (CHD) indicated that variants in SOX17 might be particularly prevalent in this subgroup, as two out of our seven additional patients presented with CHD. Further research is still necessary to clarify the precise association between the biological pathway of SOX17 and the development of PAH

Spanish cardiac catheterization in congenital heart diseases registry. First official report from the ACI-SEC and the GTH-SECPCC (2020)

ABSTRACT Introduction and objectives: The Interventional Cardiology Association of the Spanish Society of Cardiology (ACI-SEC) and the Spanish Society of Pediatric Cardiology Working Group on Interventional Cardiology (GTH-SECPCC) introduce their annual activity report for 2020, the starting year of the pandemic of coronavirus disease (COVID-19). Methods: All Spanish centers with cath labs and interventional activity in congenital heart diseases were invited to participate. Data were collected online, and analyzed by an external company together with members from the ACI-SEC and the GTH-SECPCC. Results: A total of 16 centers participated (all of them public) including 30 cath labs experienced in the management of congenital heart diseases, 7 of them (23.3&#x0025;) dedicated exclusively to pediatric patients. A total of 1046 diagnostic studies, and 1468 interventional cardiac catheterizations were registered. The interventional procedures were considered successful in 93.4&#x0025; of the cases with rates of major procedural complications and mortality of 2&#x0025;, and 0.1&#x0025;, respectively. The most frequent procedures were atrial septal defect closure (377 cases), pulmonary angioplasty (244 cases), and the percutaneous closure of the patent ductus arteriosus (199 cases). Conclusions: This report is the first publication from the Spanish Cardiac Catheterization in Congenital Heart Diseases Registry. The data recorded are conditioned by the COVID-19 pandemic. Diagnostic cardiac catheterization still plays a key role in this field. Most interventional techniques have reported excellent security and efficacy rates

Registro español de intervencionismo en cardiopatías congénitas. Primer informe oficial de la ACI-SEC y el GTH-SECPCC (2020)

RESUMEN Introducci&#x00F3;n y objetivos: La Asociaci&#x00F3;n de Cardiolog&#x00ED;a Intervencionista de la Sociedad Espa&#x00F1;ola de Cardiolog&#x00ED;a (ACI-SEC) y el Grupo de Trabajo de Hemodin&#x00E1;mica de la Sociedad Espa&#x00F1;ola de Cardiolog&#x00ED;a Pedi&#x00E1;trica y Cardiopat&#x00ED;as Cong&#x00E9;nitas (GTH-SECPCC) presentan el informe de actividad hemodin&#x00E1;mica en cardiopat&#x00ED;as cong&#x00E9;nitas de 2020, a&#x00F1;o de inicio de la pandemia de la enfermedad coronav&#x00ED;rica de 2019 (COVID-19). M&#x00E9;todos: Se invit&#x00F3; a participar a los centros espa&#x00F1;oles con laboratorio de hemodin&#x00E1;mica y actividad intervencionista en cardiopat&#x00ED;as cong&#x00E9;nitas. La recogida de datos se realiz&#x00F3; telem&#x00E1;ticamente; una empresa externa, junto con miembros de la ACI-SEC y el GTH-SECPCC, los analiz&#x00F3;. Resultados: Participaron 16 centros (todos p&#x00FA;blicos), que acumulan 30 salas de hemodin&#x00E1;mica con actividad en cardiopat&#x00ED;as cong&#x00E9;nitas, 7 (23,3&#x0025;) de ellas con dedicaci&#x00F3;n exclusiva a pacientes pedi&#x00E1;tricos. Se registraron 1.046 estudios diagn&#x00F3;sticos y 1.468 cateterismos intervencionistas. Los procedimientos terap&#x00E9;uticos fueron exitosos en el 94,9&#x0025;, con una tasa de complicaciones mayores del 2&#x0025; y una mortalidad del 0,1&#x0025;. Las t&#x00E9;cnicas m&#x00E1;s frecuentes fueron el cierre de comunicaci&#x00F3;n interauricular (377 casos), la angioplastia pulmonar (244 casos) y el cierre de ductus arterioso (199 casos). Conclusiones: El presente trabajo representa la primera publicaci&#x00F3;n del Registro Espa&#x00F1;ol de Intervencionismo en Cardiopat&#x00ED;as Cong&#x00E9;nitas. La casu&#x00ED;stica registrada est&#x00E1; condicionada por la pandemia de la COVID-19. Los cateterismos diagn&#x00F3;sticos siguen teniendo un papel relevante en esta actividad. Para la mayor&#x00ED;a de las t&#x00E9;cnicas intervencionistas se han reportado excelentes datos de seguridad y eficacia