Epidemiología del diagnóstico prenatal de defectos congénitos en la provincia de Holguín / Epidemiology of prenatal diagnosis of congenital defects in Holguín province

Introducción: En Cuba, los defectos congénitos constituyen la segunda causa de muerte en niños menores de un año, por lo cual ocupan un lugar prioritario en los programas médicos sociales del país. Objetivo: Evaluar el comportamiento epidemiológico del diagnóstico prenatal de los defectos congénitos en Holguín, Cuba. Métodos: Se realizó un estudio descriptivo y transversal de la epidemiología de los defectos congénitos en la provincia de Holguín, Cuba, en el periodo de enero 2011- junio de 2020. Resultados: Los años con mayor número de defectos congénitos diagnosticados fueron: 2011, 2012, 2017 y 2018 con 308, 253, 290 y 236 pacientes, respectivamente. Los defectos congénitos más frecuentes fueron: cardiovasculares (comunicación interventricular, canal auriculoventricular, transposición de grandes vasos e hipoplasia de cavidades), renales (pielocaliectasia, hidronefrosis, riñones poliquísticos), y del sistema nervioso central (ventriculomegalia, hidrocefalia). El grupo de edad materna donde se realizó mayor número de diagnósticos fue entre 20-24 años, la mayoría en el segundo trimestre de la gestación; en el primer trimestre, el mayor número de defectos congénitos correspondió a los defectos de pared anterior. La tasa de mortalidad infantil por defectos congénitos se mantuvo estable en la mayoría de los años estudiados. Conclusiones: La estabilidad y perfeccionamiento del programa de diagnóstico prenatal de los defectos congénitos, y el asesoramiento genético adecuado, han tenido un resultado epidemiológico favorable en la provincia.

Introduction: congenital defects in Cuba are the second cause of death in children under one year of age that is why they occupy a priority place in the social medical programs of the country. Objective: to evaluate the epidemiological manifestation of the prenatal diagnosis of congenital defects in Holguín, Cuba. Methods: a descriptive and cross-sectional study of the epidemiology of birth defects was carried out in Holguín province, Cuba from January 2011 to June 2020. Results: the years with the highest number of diagnosed birth defects were 2011, 2012, 2017 and 2018 with 308, 253, 290 and 236 patients, respectively. The most frequent birth defects were cardiovascular (ventricular septal defect, atrioventricular canal, transposition of the great vessels and hypoplasia of cavities), renal (pyelokaliectasia, hydronephrosis and polycystic kidneys), and central nervous system (ventriculomegaly and hydrocephalus). The maternal age group in which the highest number of diagnoses was made was between 20-24 years, mostly in the second trimester of pregnancy; the largest number of congenital defects in the first trimester corresponded to anterior wall defects. The infant mortality rate due to congenital defects remained stable in most of the years studied. Conclusions: the stability and improvement of the prenatal diagnosis program for congenital defects, as well as an adequate genetic counseling, have had a favourable epidemiological result in the province.

Venoarterial Extracorporeal Membrane Oxygenation as A Bridge to Surgery in Post-Myocardial Infarction Ventricular Septal Defect with Cardiogenic Shock: Case Report

ABSTRACT We describe a 60-year-old woman with post-myocardial infarction (MI) ventricular septal defect (VSD) and cardiogenic shock who was successfully stabilized with veno-arterial extracorporeal membrane oxygenation (VA-ECMO) as a bridge therapy for the surgical closure of her VSD. This case highlights the role of VA-ECMO in the management of post-MI VSD to improve the results of surgical repair and patient survival.

Oclusão percutânea da comunicação interatrial do tipo seio venoso com stent coberto: a importância dos métodos de imagem para impressão de modelos tridimensionais e a melhor tomada de decisão clínica / Percutaneous occlusion of sinus venosus atrial septal defect using a covered stent: the importance of imaging methods for printing three-dimensional models and better clinical decision-making

A comunicação interatrial do tipo seio venoso superior geralmente acompanha-se de uma conexão venosa anômala de veia ou veias pulmonares superiores ou médias direitas, que drenam diretamente na veia cava superior ou, ainda, na junção cavoatrial. Relatamos o caso de uma paciente do sexo feminino, de 62 anos, com diagnóstico de comunicação interatrial do tipo seio venoso, com sobrecarga das câmaras direitas, para quem foi planejado o procedimento de oclusão percutânea do defeito por meio da realização prévia de tomografia cardiovascular e, sequencialmente, estudo anatômico tridimensional, com o software de acesso público 3D Slicer. Além disso, foi realizada a impressão do modelo em resina para inspeção e simulação de implante de um stent. A paciente foi tratada de maneira percutânea com um stent Chetham-Platinum coberto de 60mm de extensão, com oclusão total do defeito, ausência de shunts residuais e direcionamento do fluxo da veia pulmonar superior direita para o átrio esquerdo por comunicação posterior entre os átrios, condição essencial para a realização desse tipo de procedimento. O planejamento do procedimento de oclusão percutânea da comunicação interatrial do tipo seio venoso passa por avaliação criteriosa dos exames de imagem. A impressão de modelos virtuais ou físicos, derivados da angiotomografia cardíaca, é fundamental para estudo detalhado do defeito e das estruturas anatômicas associadas, minimizando a ocorrência de complicações.

A superior sinus venosus atrial septal defect is usually accompanied by an anomalous venous connection to a right superior or middle pulmonary vein or veins, draining directly into the superior vena cava or even into the cavoatrial junction. This is a case report of a 62-year-old female patient, diagnosed with a sinus venosus atrial septal defect, with overload of the right chambers, for whom a percutaneous occlusion procedure was planned, using a previous cardiovascular tomography and, sequentially, a three-dimensional anatomical study, with the publicly available software 3D Slicer. In addition, a resin model was printed for inspection and simulation of a stent implantation. The patient was treated percutaneously with a 60-mm covered Chetham-Platinum stent, with total occlusion of the defect, absence of residual shunts, and draining flow from the right superior pulmonary vein to the left atrium, through a posterior communication between the atria, a sine qua non prerequisite to perform this type of procedure. Planning of the percutaneous occlusion procedure of the sinus venosus atrial septal defect involves careful evaluation of imaging tests. The printing of virtual or physical models, derived from computed tomography angiography of the heart, is essential for a detailed study of the defect and associated anatomical structures, minimizing the occurrence of complications.

Tetralogy of Fallot with an Anomalous Course of the Brachiocephalic Vein

ABSTRACT Clinical data: Infant, 11-month-old, male, diagnosis of Tetralogy of Fallot with retrotracheoesophageal course of the brachiocephalic vein. Usual findings of Tetralogy of Fallot on physical examination. Technical description: Chest radiography showed slightly reduced pulmonary vascular markings and no cardiomegaly. Normal preoperative electrocardiogram with postoperative right bundle branch block. Usual findings of Tetralogy of Fallot on echocardiogram. Postoperative computed tomography angiography confirmed left brachiocephalic vein with anomalous retrotracheoesophageal course, configuring a U-shaped garland vein, in addition to postoperative findings of total correction of Tetralogy of Fallot. Operation: Complete surgical repair was performed with pulmonary valve commissurotomy and placement of bovine pericardial patch to solve right ventricular outflow tract obstruction, pulmonary trunk enlargement, and ventricular septal defect closure. Comments: Systemic venous drainage may show variations in patients with Tetralogy of Fallot. These abnormalities are usually of little clinical relevance, as they are asymptomatic. We presented a rare case of retrotracheoesophageal course of an anomalous left brachiocephalic vein with intraoperative diagnosis, confirmed by imaging during postoperative follow-up, without compromising clinical management or surgical approach.

Comparison of Surgical Techniques Used in Ventricular Septal Defect Closure

ABSTRACT Introduction: We compared transatrial closure, tricuspid valve septal detachment, and tricuspid valve chordal detachment techniques for ventricular septal defect (VSD) closure. Methods: Patients who had VSD closure with three different techniques in our clinic between September 2016 and December 2020 were retrospectively reviewed. A total of 117 patients were included in the study. The patients were divided into three groups: group 1, classical transatrial closure; group 2, closure with tricuspid valve septal detachment; and group 3, closure with tricuspid valve chordal detachment. The groups were evaluated by serial transthoracic echocardiography (preoperative, postoperative 1st day, postoperative 1st month). Cardiac rhythm checks and recordings were performed. Results: No residual VSD was observed in early or late periods in any of the groups whose VSD closure was performed with the three different techniques. No severe tricuspid regurgitation (TR) was detected during the early and late postoperative periods of all operating procedures. When the groups were compared in terms of early/late TR after the operation (without TR+trace amount of TR and mild TR+moderate TR were compared), no statistically significant difference was found (P>0,05; P=0,969 and P>0,05; P=0,502). Conclusion: In this study, we found no statistically significant difference between three VSD closure techniques in terms of early TR, late TR, residual VSD, and permanent atrioventricular complete block during postoperative period. We hope that our results will be supported by the results of researches that are being made about this subject in large series.

Intracardiac Repair in Late Adolescent and Adult Tetralogy of Fallot — Early and Midterm Results from a Tertiary Care Centre

Abstract Introduction: In developing countries like India, it is common for late presentation of Tetralogy of Fallot (TOF) patients to a hospital as compared to that of developed countries. The objective of this study is to analyze the surgical outcome of TOF patients with age > 15 years. Methods: This is a retrospective descriptive study of the surgical outcomes of 45 adult patients undergoing correction for TOF. Epidemiology, symptomology, and preoperative evaluation were performed. Results: Most of the patients were male (33 [73%]). The median age was 21 years. A total of 42 (93.33%) patients had subaortic ventricular septal defect (VSD), while three (6.6%) patients presented with doubly committed VSD. The most common type of right ventricular outflow tract (RVOT) obstruction was combined infundibular and valvular types, accounting for 34 cases (75.5%). Six patients had infundibular RVOT obstruction, while three patients (6.6%) had predominantly valvular pulmonary stenosis. We performed trans-right atrial repair in 33 patients. Right atrium-pulmonary artery approach was used in five patients (11.1%). The most common postoperative complication was right bundle branch block, seen in 14 patients, with a mortality rate of 2% in the early postoperative period. We achieved excellent early and midterm survival results and significant improvement in functions and disease-free quality of life. Conclusion: Intracardiac repair in adult TOF can be performed with low mortality, less residual RVOT obstruction, and need for revision of RVOT far less frequent by using the Jhajhria Infundibular Resection Adequacy Assessment technique (JIRAAT) to assess for adequacy of infundibular resection.

Características clínicas y genéticas de un paciente con síndrome de Noonan y una mutación de novo en el gen MAP2K1: Reporte de caso

Introducción: El síndrome de Noonan es un trastorno genético relacionado principalmente con la mutación del gen PTPN11. Reporte del caso: Recién nacido varón de 34 semanas de edad gestacional con ultrasonidos obstétricos que muestran higroma quístico, hidronefrosis renal bilateral, y polihidramnios. Al nacimiento, presentó edema nucal, puente nasal ancho, pabellón auricular de implantación baja, y criptorquidia derecha. Además, defecto del tabique auricular, ausencia de vena cava inferior, hipertensión pulmonar, conducto arterioso persistente y dificultad respiratoria. El resultado del análisis del panel de 14 genes mostró una mutación del gen MAP2K1 y una variante de significado incierto en el gen CBL, confirmando el diagnóstico del síndrome de Noonan negativo para PTPN11. Durante el seguimiento, también se le diagnosticó blefaroptosis izquierda y reflujo gastroesofágico. Conclusión: El presente caso destaca la amplia variedad de características fenotípicas en un paciente con síndrome de Noonan, con sospecha al nacimiento y confirmado durante el seguimiento.

Background: Noonan syndrome is a genetic disorder mostly related to PTPN11 gene mutation. Report Case: Newborn male of 34 weeks of gestational age with obstetric ultrasounds showing cystic hygroma, bilateral renal hydronephrosis, and polyhydramnios. At born, he presented nuchal edema, wide nose, low-set ears, and right cryptorchidism. Additionally, he presented atrial septum defect, absence of inferior vena cava, mild pulmonary hypertension, persistent ductus arteriosus, and respiratory distress. The result of the 14-gene panel analysis showed a MAP2K1 gene mutation and a variation of uncertain significance in the CBL gene, confirming the diagnosis of PTPN11- negative Noonan syndrome. During the follow-up, he was additionally diagnosed with blepharoptosis of left eye and gastroesophageal reflux disease. Conclusion:This report highlights the wide variety of phenotypical characteristics in a Noonan syndrome patient, which was suspected upon birth and developed during the follow-up.

Surgery for Functional Tricuspid Regurgitation in Adult Atrial Septal Defect — An Increasing Subject in a Decreasing Matter

ABSTRACT Introduction: Functional tricuspid regurgitation (TR) is known to complicate adult atrial septal defect (ASD), but its management is still under debate. We reviewed our experience in ASD surgery, focusing on associated functional TR and its treatment. Methods: This retrospective study (2005-2019) included 206 consecutive adult ASD surgical cases without associated valve pathology, except functional TR. Variables were statistically compared on TR classes and surgery-defined groups. Results: Mean age of the patients was 40.3±13 years; 19.9% had sinus venosus syndrome. TR severity was directly related to age, pulmonary systolic pressure, right ventricular and tricuspid annulus diameters, and heart failure class. TR ≥ 2 was found in 134 (65%) patients, while TR ≥ 3 in 56 (27.2%) patients. Tricuspid surgery was associated to shunt closure in 66 (32%) patients, almost all through valve repair; indication was directly related to age, right ventricular and tricuspid annulus diameters, and heart failure class ≥ 3. Tricuspid surgery was more efficient than isolated shunt closure in decreasing TR (79±23% vs. 36±26%; P=1.8 E-18). Device closure availability (last four years of the study) was associated with 1/3 reduction of surgical cases but increased the share of cases with TR>2 (> 51% vs. < 31%; P<0.05). Conclusion: In the era of device closure, surgery for adult ASD is less frequent, but the share of significant TR cases is in net increase. To avoid long-term postoperative TR, we plead for valve repair in all patients with severe TR and for considering repair in moderate TR at risk of persistence.

Scimitar syndrome with late presentation / El síndrome de la cimitarra con presentación tardía

Abstract Introduction: Scimitar syndrome is a congenital malformation with an incidence of 1-3 per 100,000 live births, consisting of abnormal drainage of the right pulmonary veins. The age of diagnosis varies according to the severity of the pathology, which depends on the degree of cardiac and pulmonary malformation. The case of a patient with a late diagnosis of the syndrome due to a silent course is reported despite severe anatomical alterations. Clinical Case: A 76-year-old female was admitted due to a 6-month clinical picture of progressive dyspnea to minimal efforts. A transthoracic echocardiogram was performed showing severe pulmonary hypertension of 96 mmHg with abnormal communication between the right pulmonary veins and the inferior vena cava, confirmed by CT angiography. Discussion: The late clinical course in relation to severe anatomical malformations has not been described in the scientific literature due to its high mortality in childhood.

Resumen Introducción: El síndrome de la cimitarra es una malformación congénita con una incidencia de 1 a 3 por cada 100,000 nacidos vivos, que consiste en un drenaje anormal de las venas pulmonares derechas. La edad en el momento del diagnóstico varía según la severidad de la patología, la cual depende del grado de malformación cardíaca y pulmonar. Se reporta el caso de una paciente con diagnóstico tardío del síndrome dado por un curso silencioso a pesar de tener alteraciones anatómicas severas. Caso clínico: mujer de 76 años de edad quien se hospitaliza por un cuadro clínico de seis meses de evolución consistente en disnea progresiva de mínimos esfuerzos. Se le practica un ecocardiograma transtorácico evidenciando hipertensión pulmonar severa de 96 mmHG con una comunicación anormal entre las venas pulmonares derechas y la vena cava inferior, confirmada por angiografía por TC. Discusión: El curso clínico tardío con relación a las malformaciones anatómicas severas no se ha descrito en la literatura científica dada su alta mortalidad en la infancia.

Midterm Prognosis of Sexagenary Patients after Transcatheter Device Closure of Atrial Septal Defects: a Single-Chinese Center Experience

Abstract Introduction: The objective of this study is to evaluate the efficacy and midterm prognosis of transcatheter device closure of atrial septal defects (ASDs) in sexagenary patients in China. Methods: Forty-six sexagenary patients who underwent transcatheter device closure of ASDs in our hospital were included in this study. The patients' preoperative and postoperative clinical symptoms, echocardiographic results, and quality of life were investigated and analyzed. Results: Of the 46 sexagenary patients who participated in the study, 40 completed the study. After ASD closure, the clinical symptoms of the patients significantly improved, and the number of patients with dyspnea and palpitations significantly decreased after the operation. According to the echocardiographic results, few patients had a tiny residual shunt after closure, but the shunt disappeared completely at the three-month follow-up. The size of the right ventricular cavity was significantly smaller postoperatively compared with preoperatively. Regarding the patients' quality of life, their feedback in all dimensions of the 36-Item Short-Form Health Survey (or SF-36) was significantly improved at the three-month follow-up, and it remained improved at the one-year follow-up. Conclusion: The clinical outcomes and subjective quality of life of sexagenary patients with ASDs improved significantly after transcatheter device closure of ASDs. Therefore, we believe that for sexagenary patients with ASDs, transcatheter device closure is a favorable treatment.

Application of Mivacurium in Fast-Track Anesthesia for Transthoracic Device Closure of Ventricular Septal Defects in Children

Abstract Introduction: The objective of this study was to investigate the effect of mivacurium in the application of fast-track anesthesia for transthoracic device closure of ventricular septal defects (VSDs) in children. Methods: The data of 108 children who underwent transthoracic device closure of VSDs from December 2018 to June 2020 were recorded and analyzed. All children were divided into group M (mivacurium group, n=55) and group C (cisatracurium group, n=53) according to the different muscle relaxant drug used. Results: No statistically significant differences in general preoperative data, intraoperative hemodynamic changes, or the incidence of adverse reactions were noted between the two groups (P>0.05). However, the intubation condition rating of children in group M was better than that in group C. The onset time, duration of clinical action and recovery index of the muscle relaxant, postoperative mechanical ventilation duration, and length of intensive care unit stay in group M were significantly lower than those in group C (P<0.05). Conclusion: It is safe and feasible to use mivacurium as a muscle relaxant in children undergoing fast-track cardiac anesthesia during transthoracic device closure of VSDs.

Feasibility of three-dimensional CT axial sequence assisted volumetric measurement for atrial septal defect evaluation / 中华放射学杂志

Objective:To explore the feasibility of three-dimensional CT axial sequence assisted volumetric measurement (CTAS) in evaluating atrial septal defect (ASD).Methods:The patients with single secundum ASD who successfully underwent interventional therapy in Fuwai Hospital from January 2016 to December 2019 were retrospectively collected. The patients underwent coronary CT angiography (CTA) before and on the second day after closures, and DSA examinations during operation. A total of 52 cases met the inclusion conditions, among them, there were 37 patients with large defects which had deficient inferior rims ≤3 mm, and 15 patients with severe pulmonary arterial hypertension that occluded with fenestrated ASD occluder. The CT data of patients before and after operation were reconstructed by CTAS. Then the anatomical structure of ASD before the operation was evaluated, including the long diameter and short diameter of ASD, and the CT three-dimensional volume diameter of ASD was calculated by using the equivalent circle conversion formula of ellipse. The waist diameter of occluder and rims of the ASD were measured after occlusion on postoperative CT three-dimensional volume reconstruction images. Meanwhile, the deployed occluder waist dimension was measured in DSA examination during the operation by simulating the balloon measurement of ASD. Lastly, paired t-test and consistency analysis were carried out among the values of parameters. Results:Before operation, the equivalent circle diameter of ASD was (32.3±5.4) mm measured by CTAS. After ASD occlusion, the size of the waist dimension measured by DSA and CTAS were (32.5±4.9) mm and (32.6±4.9) mm. There were no significant differences between them ( P>0.05). There were also no significant differences for each rims of the ASD pre and post operation on CTAS except for the inferior rims and the total length of atrial septum in superior-inferior direction ( P>0.05). Conclusion:As an alternative to balloon sizing, CTAS can be used as a reference standard to conduct ASD interventional treatment.

Echocardiography-guided transcatheter closure of atrial septal defects for three pregnant women / 中华围产医学杂志

Objective:To investigate the feasibility of echocardiography-guided transcatheter closure of atrial septal defect (ASD) during pregnancy and summarize the multidisciplinary treatment experience for such women.Methods:A retrospective analysis was performed on three women receiving echocardiography-guided secondum ASD closure during pregnancy in Guangdong Provincial People's Hospital from January 2018 to October 2021. Perioperative and perinatal multidisciplinary treatment and prognosis were described.Results:All three patients underwent cardiac ultrasonography due to abnormal electrocardiogram during routine prenatal examination and were diagnosed with secondum ASD. Progressive cardiac dysfunction was found during close follow-ups and all cases met the criteria for ASD closure during pregnancy after multidisciplinary evaluation. Echocardiography-guided ASD closure was successfully performed in all patients. Pulmonary arterial pressure was significantly reduced and the cardiac function was stable after the operation. All patients delivered vaginally at term without complications such as miscarriage, premature birth, postpartum hemorrhage or fetal growth restriction and had their cardiac function recovered during postpartum follow-up.Conclusions:Echocardiography-guided ASD closure during pregnancy is technically feasible. Good maternal and fetal outcomes can be obtained through multidisciplinary and close monitoring and treatment during perioperative and perinatal periods.

Syndrome of ventricular septal defect and aortic regurgitation - A 22-year review of its management

Abstract Introduction: The presence of aortic regurgitation (AR) in the setting of ventricular septal defect (VSD) has always been a management challenge. Methods: This is a retrospective study looking at patients who underwent VSD closure with or without aortic valve intervention between January 1st, 1992 and December 31st, 2014 at the Institute Jantung Negara. This study looked at all cases of VSD and AR, where AR was classified as mild, moderate, and severe, the intervention done in each of this grade, and the durability of that intervention. The interventions were classified as no intervention (NI), aortic valve repair (AVr), and aortic valve replacement (AVR). Results: A total of 261 patients were recruited into this study. Based on the various grades of AR, 105 patients had intervention to their aortic valve during VSD closure. The rest 156 had NI. All patients were followed up for a mean time of 13.9±3.5 years. Overall freedom from reoperation at 15 years was 82.6% for AVr. Various factors were investigated to decide on intervening on the aortic valve during VSD closure. Among those that were statistically significant were the grade of AR, size of VSD, age at intervention, and number of cusp prolapse. Conclusion: We can conclude from our study that all moderate and severe AR with small VSD in older patients with more than one cusp prolapse will need intervention to their aortic valve during the closure of VSD.

Atrial Septal Aneurysm and Atrial Septal Defect Association - an Uncommon But Well-Recognized Association

Abstract Atrial septal aneurysm (ASA) is an uncommon but well-recognized cardiac abnormality. This educational text reviews the case of a 54-year-old female presenting an ASA related to a small ostium secundum atrial septal defect. The considerable signs and symptoms, interestingly, have not been justified by the clinical and hemodynamic investigations. So, we opted for a better imaging investigation with cardiac catheterization and transesophageal echocardiography. The surgical process was earlier indicated and performed with aid of cardiopulmonary bypass.

Late tricuspid regurgitation after percutaneous transcatheter closure of ventricular septal defect: an educational presentation

Abstract Transcatheter closure of ventricular septal defects (VSD) is not out of complications. Late complications are rare, but important, and sometimes require surgical correction. Herein, we report a case of tricuspid regurgitation as a complication of transcatheter VSD closure. The patient underwent successful surgery. Postoperative course was satisfactory. Echocardiographic examination revealed well-functioning tricuspid valve. We present this case since valve regurgitation after transcatheter procedure requiring surgery is an uncommon but significant complication due to heart failure risk. Even in the absence of any clinical finding, post-procedural close follow-up is important for early diagnosis of the problem to prevent the aforementioned risk.