Incidence and influencing factors of right-to-left shunt in iatrogenic atrial septal defect after interventional therapy for atrial fibrillation / 中华老年心脑血管病杂志

Objective To investigate the incidence and influencing factors of right-to-left shunt(RLS)in patients with iatrogenic atrial septal defect(iASD)after atrial septal puncture during in-terventional therapy for atrial fibrillation and analyze the correlation with new onset migraine in order to provide a basis for the prevention and treatment of related clinical events.Methods A to-tal of 54 patients with atrial fibrillation who underwent interventional surgery[including radio-frequency catheter ablation(RFCA),left atrial appendage closure(LAAC),and'one-stop'sur-gery]in cardiologic department of our hospital from November 2022 to March 2023 were enrolled in this study.According to existence of RLS in iASD within 48 h after surgery,they were divided into RLS group(24 patients)and non-RLS group(30 patients).The general information and tran-sthoracic echocardiographic data were collected and analyzed for the occurrence and influencing factors of RLS.The incidence of new onset migraine within 3 months after operation was recorded in both groups.Results All these patients had left-to-right shunt of iASD,24 patients had RLS(44.44％),and the defect size was 5.12±0.80 mm.During the 3 months'follow-up period,there was no significant difference in the incidence of new onset migraine between the two groups(P＞0.05).Older age,increased proportion of persistent atrial fibrillation,and larger iASD size was seen in the RLS group than the non-RLS group(P＜0.05,P＜0.01).Multivariate logistic regres-sion analysis showed that iASD size was a risk factor for RLS(OR=2.245,95％CI:1.040-4.846,P=0.040).Conclusion RLS is common in iASD after interventional treatment of atrial fibrillation,which is not related to the early occurrence of new onset migraine in these patients.The size of iASD is a risk factor for RLS.At the same time,more attention should be paid to the influence of iASD on hemodynamics and clinical events.

Atrial septal defect and hydronephrosis associated with 2q13 microdeletion: a case report and literature review / 中华围产医学杂志

Objective:To investigate the clinical and genetic features of 2q13 microdeletion.Methods:This study retrospectively analyzed the clinical and genetic features and prognosis of an infant who was admitted to the Fourth People's Hospital of Zhenjiang Affiliated to Jiangsu University and diagnosed with 2q13 microdeletion in October 2021. A literature review on the clinical and genetic characteristics of 2q13 microdeletion was conducted by searching CNKI, Wanfang database, Yiigle, VIP database, PubMed, Embase, and Cochrane Library databases up to March 2023, with "2q13 microdeletion" and "2q13" (both in Chinese and English) as the keywords.Results:(1) Case report: A fetus was found to have mild aortic arch stenosis and left hydronephrosis by prenatal ultrasound at 24 +2 gestational weeks. Fetal chromosomal microarray analysis following amniocentesis at 27 +6 weeks of gestation revealed a 2.23 Mb deletion at 2q13q14.1 chromosome, considered a possible pathogenic copy number variation. The newborn was delivered by cesarean section at 38 +5 weeks of gestation. Echocardiography indicated ostium secundum atrial septal defect and ultrasound showed left hydronephrosis. Other examinations detected no abnormalities. Results of imaging reexamination showed no significant changes when followed up by telephone at 13 months after birth, and a continued follow-up was recommended by the pediatrician. No other developmental abnormalities were found. (2) Literature review: There were 64 patients in 32 retrieved literature, and the one case in this report results in 65 cases. The 2q13 microdeletions can be de novo (15.6%, 10/64) or inherited from one of the parents with normal or abnormal phenotypes (35.9%, 23/64). The clinical manifestations include developmental delay (53.3%, 16/30), craniofacial abnormalities (56.8%, 21/37), and congenital heart diseases (35.0%, 14/40). In addition, some cases exhibited mental neurological symptoms with age, such as attention deficit hyperactivity disorder (48.0%, 12/25), autism spectrum disorders (35.7%, 10/28), etc. Conclusions:The 2q13 microdeletion is complex in its clinical characteristics and incomplete in penetrance. Chromosomal microarray analysis is recommended for confirming diagnosis when related phenotypes are identified prenatally. Some cases of 2q13 microdeletion will show neuropsychiatric symptoms with age, suggesting that long-term follow-up is necessary.

Clinical observation of iatrogenic atrial septal defect after atrial septal puncture during atrial fibrillation intervention surgery / 中国医师杂志

Objective:To observe the occurrence and closure of iatrogenic atrial septal defect (IASD) after left atrial appendage occlusion (LAAo) and atrial fibrillation cryoballoon ablation (CBA), and to identify potential factors that may affect the occurrence of IASD.Methods:A total of 383 patients who underwent successful LAAo surgery in the Department of Cardiology at the Nanjing Hospital Affiliated to Nanjing Medical University from June 7, 2016 to December 2, 2020, and atrial fibrillation CBA surgery from December 29, 2016 to September 10, 2020 were retrospectively selected. Patients were followed up with echocardiography at 1 month, 3 months, 6 months, 1 year, and>1 year after surgery to determine the occurrence of IASD. The incidence of IASD between the two groups was compared, and clinical data between the two groups with and without IASD were analyzed to identify the relevant factors for the occurrence of IASD.Results:One month after CBA surgery for atrial fibrillation [73.8%(138/187) vs 47.9%(67/140), P<0.001], 3 months [39.0%(57/146) vs 13.6%(16/118), P<0.001], 6 months [17.7%(22/124) vs 3.6%(4/110), P=0.001], 1 year [11.8%(15/127) vs 1.8%(2/112), P=0.003], and one year later [9.8%(13/133) vs 0.9%(1/116), P=0.002], the incidence of IASD was significantly higher than those in LAAo. Compared with the non IASD group, the IASD group had a lower proportion of males [59.0%(121/205) vs 83.6%(102/122), P<0.001], and a higher proportion of paroxysmal atrial fibrillation [61.5%(126/205) vs 45.9%(56/122), P=0.006]. Logistic regression analysis found a significant correlation between women and CBA with postoperative IASD. Conclusions:Compared with LAAo, the incidence of IASD after CBA for atrial fibrillation is higher, and some IASD persist for more than 1 year after surgery. Women are significantly associated with IASD.

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.

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.

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.

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.

Robotic versus sternotomy approach for closure of atrial septal defect / 中国胸心血管外科临床杂志

@#Objective    To compare the short-term outcomes of surgical repair for atrial septal defect (ASD) with a robotic (da Vinci Si) approach versus a conventional open procedure. Methods    Clinical data of 140 patients undergoing ASD closure in the First Affiliated Hospital of Anhui Medical University from January 2016 to May 2020 were retrospectively analyzed. The patients were divided into a robotic group and a sternotomy group according to different surgical methods. In the robotic group, there were 67 patients including 20 males and 47 females at a median age of 40.0 (25.0) years, and in the sternotomy group there were 73 patients including 23 males and 50 females at a median age of 41.0 (29.0) years. Multivariate linear regressions were used to produce risk-adjusted analysis of pertinent clinical characteristics. Kaplan-Meier analysis was performed to compare the speed of sternotomy versus robotic group returning to exercise or daily life. Results    Robotic-assisted surgery was associated with significantly shorter 24 h postoperative drainage volume [220.0 (210.0) mL vs. 345.0 (265.0) mL, P<0.001], mechanical ventilation [6.0 (11.0) h vs. 8.0 (11.0) h, P=0.024], intensive care unit length of stay (LOS) [19.0 (19.0) h vs. 22.0 (25.0) h, P=0.005], postoperative hospital LOS [9.0 (5.0) d vs. 10.0(6.0) d, P=0.003], and a lower rate of perioperative blood transfusion (28.36% vs. 84.93%, P<0.001). After controlling for patient comorbidity in the multiple regression model, there remained a trend toward decreased 24 h postoperative drainage volume (β=–115.30, 95%CI–170.78 to –59.82, P<0.001), mechanical ventilation (β=–4.96, 95%CI –8.33 to –1.59, P=0.004) and postoperative hospital LOS (β=–2.31, 95%CI –3.98 to –0.63, P=0.007) in the robotic group. Kaplan-Meier analysis revealed that patients returned to exercise or daily life earlier in the robotic group [35.0 (32.0) d vs. 90.0 (75.0) d, P<0.001]. Conclusion    Closure of ASD can be performed safely and effectively via robotic approach. And the minimally invasive technique is beneficial to postoperative recovery.

Comparative study between surgical repair of atrial septal defect via median sternotomy, right submammary thoracotomy, and right vertical infra-axillary thoracotomy

Abstract Objective: To compare the results of surgical repair via median sternotomy, right submammary thoracotomy, and right vertical infra-axillary thoracotomy for atrial septal defect (ASD). Methods: This is a retrospective analysis of the relative perioperative and postoperative data of 136 patients who underwent surgical repair for ASD with the abovementioned three different treatments in our hospital from June 2014 to December 2017. Results: The results of the surgeries were all satisfactory in the three groups. No statistically significant difference was found in operative time, duration of cardiopulmonary bypass, blood transfusion amount, postoperative mechanical ventilation time, duration of intensive care unit, length of hospital stay, and hospital costs. However, the median sternotomy group had the longest incision. Meanwhile, there was no significant difference in postoperative complications. Conclusion: All three types of surgical incisions can be safely and effectively used to repair ASD. The treatments via right submammary thoracotomy and right vertical infra-axillary thoracotomy have advantages over the treatment via median sternotomy in cosmetic results and should be the recommended options.

Hipoxemia recurrente y formen oval permeable. Unidad diagnóstica fácilmente inadvertida. Caso clínico / Recurrent hypoxemia secondary to a patent foramen ovale. Report of one case

Patent foramen ovale (PFO) is a prevalent congenital septal atrial defect usually without pathological significance. In certain pathogenic situations, PFO can trigger episodes of recurrent hypoxemia, a specific condition known as platipnea-orthodeoxia syndrome (POS). We report a 73 years old female presenting with dyspnea and low arterial oxygen saturation. On admission the patient had a hemoglobin saturation of 81% and an arterial oxygen partial pressure of 50 mmHg. After breathing 100% a 17% arterial-venous shunt was found (normal: less than 12%). A transesophageal echocardiogram and a cardiac catheterization showed the presence of a PFO. A percutaneous closure was performed.

Reparación de válvula mitral y cierre de comunicación interauricular, asistida por robot: experiencia inicial / Robotic mitral valve repair and closure of atrial septal defect: report of 13 procedures

Background Robot-assisted minimally invasive heart surgery is an effective alternative when compared with classical approaches. It has a low mortality and postoperative complications and its long-term durability is comparable with conventional techniques. Aim: To report short- and long-term results with the use of a robot-assisted transthoracic approach. Patients and Methods: Review of patients undergoing heart surgery between 2015 and 2019 using a robot assisted minimally invasive technique in a single center. We analyzed demographic characteristics, surgical and early ultrasound results. Results: Thirteen procedures were reviewed, nine mitral valve repairs (MVR) in patients aged 61 ± 21 years (seven males) and four atrial septal defect (ASD) closures in patients aged from 24 to 52 years (three men). For MVR, the average extracorporeal circulation and myocardial ischemia times were 120 ± 20.9 and 89 ± 21 minutes, respectively. The median hospitalization was four days. Two cases of MVR had postoperative complications. There was no mortality. All cases showed improvement in their symptoms. Ultrasound findings showed no postoperative mitral insufficiency except in one case. Conclusions: We report very good results in both complex mitral repair and CIA closure, comparable to centers with high standards in minimally invasive robot-assisted heart surgery.

Prevalencia de septal pouch en una cohorte derivada para ecocardiograma transesofágico / Prevalence of septal pouch in a cohort derived for transesophageal echocardiography / Prevalência da bolsa septal em uma coorte derivada para ecocardiografia transesofágica

Resumen: Introducción: los defectos del septum interauricular (SIA) son frecuentes. En los últimos años se ha identificado una nueva entidad conocida comoseptal pouch (SP). Los datos sobre su prevalencia son escasos, estimándose entre 30%-50% en la población general. El rol como fuente de cardioembolia es discutido. Objetivos: el objetivo primario es determinar la prevalencia y caracterizar el SP; en forma secundaria, definir la variabilidad interobservador para su diagnóstico. Material y método: estudio observacional, descriptivo y analítico. Se reclutaron en forma prospectiva pacientes consecutivos derivados para ecocardiograma transesofágico (ETE) entre el 20 de abril de 2018 y el 30 de agosto de 2018. Se registraron datos patronímicos, antecedentes personales de accidente cerebrovascular (ACV), ritmo cardíaco y motivo del estudio. Se evaluó la presencia de SP y se caracterizó como left-sided septal pouch (LSSP) o rigth-sided septal pouch (RSSP); se midió profundidad, presencia de trombo en su interior y se completó el estudio ecocardiográfico. Las imágenes fueron evaluadas por dos ecocardiografistas ciegos entre sí. Las variables cualitativas se presentan en frecuencia relativa (FR); las cuantitativas en mediana e intervalo intercuartilo. Se realizó test de chi cuadrado para evaluar la asociación entre la presencia de SP y la presencia de ACV o de FA. La reproducibilidad del diagnóstico de SP fue evaluada por índice Kappa. Resultados: se incluyeron 50 sujetos. La prevalencia de SP fue de 0,5 (FR), 0,46 LSSP y 0,04 RSSP. El índice Kappa interobservador para el diagnóstico fue 0,68, error estándar 0,14, con 84% de acuerdo. Catorce sujetos tenían antecedente de ACV, en nueve de ellos se diagnosticó SP (chi cuadrado p=0,21); 18 pacientes tenían fibrilación auricular/flutter, la mitad de ellos tenía SP (chi cuadrado p=1). Conclusión: la prevalencia de SP fue de la mitad de la población, predominando ampliamente el LSSP, con buena reproducibilidad en su diagnóstico. Se trata de un hallazgo subdiagnosticado; interesa continuar investigando su posible asociación con ACV.

Summary: Introduction: the interatrial septum defects are frequent. A new entity has recently been identified, known as septal pouch. Prevalence data in general population is scarce, and is estimated between 30%-50%. The role as a source of cardioembolism is unclear. Objectives: the primary objective is to determine the prevalence and characterize the septal pouch; secondarily to define the interobserver variability for the diagnosis. Material and methods: observational, descriptive and analytical study. Consecutive patients were recruited for transesophageal echocardiography between 4/20/2018 and 8/30/2018. We recorded patronymic data, personal history of stroke, heart rate, and the reason for the study. The presence of septal pouch was defined and characterized as left-sided septal pouch or rigth-sided septal pouch; depth was measured, presence of thrombus inside and echocardiographic study measures were completed. The images were evaluated by two blind echocardiographers. The qualitative variables are presented in relative frequency (RF), the quantitative variables in median and interquartile interval. Chi square test was carried out. The reproducibility of the diagnosis of septal pouch was evaluated by Kappa index. Results: 50 subjects were included. The prevalence of septal pouch was 0.5 (RF), 0.46 left-sided septal pouch and 0.04 rigth-sided septal pouch. The interobserver Kappa index for diagnosis is 0.68, standard error 0.14, with 84% agreement. 14 subjects had stroke, in 9 of them septal pouch was diagnosed (chi square p=0.21); 18 patients had atrial fibrillation or flutter, half of them had septal pouch (chi square p=1). Conclusion: the prevalence of septal pouch was half of the population, predominantly the left-sided septal pouch, with good reproducibility in diagnosis. It is an underdiagnosed finding; further investigation is necessary to assess its relation to stroke.

Resumo: Introdução: os defeitos do septo interatrial são freqüentes. Nos últimos anos, uma nova entidade conhecida como bolsa septal foi identificada. Dados sobre prevalência são escassos, estimados em 30%-50% na população geral. O papel como fonte de cardioembolismo é discutido. Objetivos: o objetivo primário é determinar a prevalência e caracterizar a bolsa septal; secundariamente definir a variabilidade interobservador para o seu diagnóstico. Material e métodos: estudo observacional, descritivo e analítico. Consecutivos pacientes foram recrutados para ecocardiograma transesofágico entre 20/4/2018 e 30/08/2018. Registramos dados patronímicos, histórico pessoal de acidente vascular cerebral, frequência cardíaca e o motivo do estudo. A presença de bolsa septal foi definida e caracterizada como bolsa septal esquerda ou bolsa septal direita; a profundidade foi medida, a presença de trombo no interior e o estudo ecocardiográfico foram concluídos. As imagens foram avaliadas por dois ecocardiografistas cegos. As variáveis qualitativas são apresentadas em frequência relativa (FR); os quantitativos em mediana e interquartil intervalo. O teste do qui quadrado foi realizado. A reprodutibilidade do diagnóstico de bolsa septal foi avaliada pelo índice Kappa. Resultados: 50 sujeitos foram incluídos. A prevalência de bolsa septal foi de 0,5 (FR), 0,46 bolsa septal esquerda e 0,04 bolsa septal direita. O índice Kappa interobservador para diagnóstico é 0,68, erro padrão 0,14, com 84% de concordância. 14 sujeitos apresentaram acidente vascular cerebral, em 9 deles foi diagnosticada bolsa septal (qui-quadrado p=0,21); 18 pacientes apresentaram fibrilhação auricular / flutter, metade deles com bolsa septal (qui quadrado p=1). Conclusão: a prevalência de bolsa septal foi metade da população, predominantemente a bolsa septal esquerda, com boa reprodutibilidade em seu diagnóstico. É um achado subdiagnosticado; é interessante para continuar investigando sua possível associação com acidente vascular cerebral.

Caso Clínico: Resección Quirúrgica de un Rabdomioma Cardíaco Fetal / Clinical Case Report: Surgical Resection of a Fetal Cardiac Rhabdomyom

INTRODUCCIÓN: Los tumores cardiacos fetales son extraordinariamente raros; su prevalencia varía entre 0.027% y 0.14%. Entre ellos, los más comunes son los rabdomiomas, siendo el 90% benignos y asintomáticos. Se mencionan menos de 300 casos en la bibliografía médica internacional y, en nuestro país, existe un solo caso publicado que no requirió corrección quirúrgica. CASO CLÍNICO: Paciente masculino, recién nacido a término, adecuado para la edad gestacional, con diagnóstico prenatal ecográfico de masa intracavitaria cardiaca, observado en ecografía a las 20 semanas de gestación. Estudio ecográfico a las pocas horas de vida evidenció comunicación interatrial, persistencia de conducto arterioso e imágenes compatibles con rabdomiomas biventriculares con repercusión hemodinámica y signos de disfunción biventricular de predominio derecho por obstrucción del tracto de salida, por lo que se decidió intervención quirúrgica con corrección total. EVOLUCIÓN: El paciente fue ingresado en la Unidad de Cuidados Intensivos Neonatal para monitoreo hemodinámico y a las 36 horas de vida se realizó cirugía correctiva con resección de masa tumoral de ventrículo derecho preservando válvula pulmonar, cierre de conducto arterioso y de la comunicación interauricular. Recibió el alta a los 10 días con buena evolución; ecocardiografías posteriores muestran involución de rabdomiomas intracavitarios de ventrículo izquierdo y adecuada función hemodinámica. CONCLUSIÓN: El diagnóstico prenatal permitió planificar parto por cesárea y corrección quirúrgica total temprana. Existe dificultad para diagnóstico de patologías con prevalencias tan bajas, por lo que los controles ecográficos realizados por profesionales experimentados fueron de vital importancia. El esfuerzo multidisciplinario para el diagnóstico, tratamiento y control hicieron posible un resultado favorable.(au)

BACKGROUND: Fetal cardiac tumors are extraordinarily rare; the prevalence varies between 0.027% and 0.14%. Among them, the most common are rhabdomyomas, 90% being benign and asymptomatic. Less than 300 cases in the international medical literature have been described; in our country there is only one published case report that did not require surgical correction. CASE REPORT: 2 day-old full-term newborn, male, adequate for gestational age, with prenatal ultrasound diagnosis of cardiac intracavitary mass at 20 gestational weeks. Ultrasound study performed within a few hours after birth evidenced interatrial communication, persistence of ductus arteriosus and images compatible with biventricular rhabdomyomas with hemodynamic repercussion and signs of biventricular dysfunction, predominantly right, due to obstruction of the outflow tract. Total correction surgery was decided as treatment EVOLUTION: The patient was admitted to the Neonatal Intensive Care Unit for hemodynamic monitoring; 36 hours after birth, corrective surgery was performed with resection of the right ventricular tumor mass, preservation of pulmonary valve and closure of the ductus arteriosus and interatrial communication. The patient was discharged 10 days later with good progress; follow-up echocardiogram showed regression of left ventricular intracavitary rhabdomyoma and adequate hemodynamic function. CONCLUSIONS: Prenatal diagnosis allowed planning cesarean delivery and early total surgical correction. There is difficulty in the diagnosis of prenatal pathologies of low prevalence. The ultrasound performed by experienced professionals was crucial. The multidisciplinary effort for diagnosis, treatment and control made possible a favorable outcome(au)

Impact factors of occluder choice for transcatheter closure of adult large atrialseptal defect / 中国介入影像与治疗学

Objective: To analyze the impact factors of occluder choice for transcatheter closure of adult large atrial septal defect (ASD). Methods: Data of 65 patients with large ASD were retrospectively analyzed. The relationships of occluder choice for transcatheter closure of ASD and the diameter, shape and edge of defect were observed. Results: ASD in all patients were successfully occluded, with 40 mm diameter occluders in 26 cases, 42 mm diameter occluders in 24 cases and ≥ 44 mm diameter occluders in 15 cases. There was no difference of defect maximum diameter (Dmax), minimum diameter (Dmin), Dmin/Dmax nor the added value of occluder (all P>0.05) among the above three, whereas there were statistical differences of Dmax, Dmin and the added value of Dmin/Dmax<0.80 (n=24) and ≥0.80 (n=41) occluders (all P<0.05). Meanwhile, significant differences of diameter and the added value of occluders were noticed between patients with distance of defect aortic margin or posterior inferior margin <5 mm (n=45) and those ≥5 mm (n=20, all P<0.05). Conclusion: For intervention treatment of adult large ASD, the diameter, shape and edge of defect are the impact factors of choice of occluder.

Application of TEE in minimal invasive surgical closure of atrial and ventricular septal defects / 中国介入影像与治疗学

Objective: To explore the value of TEE-guided surgical minimal invasive closure of atrial septal defects (ASD) and ventricular septal defects (VSD). Methods: Totally 58 patients with ASD and 129 patients with VSD underwent TEE-guided minimal invasive surgical closure. After small chest wall incision, under TEE monitoring, the accurate puncture point of right atrium or right ventricular wall was selected, then arterial hemostatic sheath passed through the gap. Multi-section TEE was used to confirm that the occluder position was suitable. Then the occluder was released when no significant residual shunt and valve complication was observed. Results: Minimal invasive surgical closure was successfully performed in all 58 ASD patients, with small residual shunts were found in 8 cases. Minimal invasive surgical closure of VSD was successfully performed in 114 patients but failed in 15 patients who then underwent open heart repair. Among 114 patients with successfully occluded VSD, 19 patients displayed minimal residual shunt, 2 patients displayed right ventricular outflow tract blood flow velocity increased, and the guide wire smoothly entered the gap in 1 patient after changing the right ventricular wall puncture point. Conclusion: TEE is useful for minimal invasive surgical closure of ASD and VSD, included measuring the size and position, choosing the occluder size, determing operative approach, guiding occluder released and evaluating instant therapeutic effect.

Influence of interventional closure on heart rate in patients with atrial septal defect ／ / 心血管康复医学杂志

To explore influence of interventional closure on heart rate in patients with atrial septal defect . Methods : A total of 63 patients with atrial septal defect undergoing percutaneous interventional closure in our hospi‐tal were selected. Heart rate was compared before and after surgery ,and correlation among heart rate ,age ,occlude size and preoperative pulmonary artery pressure was analyzed .Results : Compared with before surgery ,there was significant reduction in heart rate [(75.22 ± 8.23) beats／min vs. (64.87 ± 10. 65) beats／min] after percutaneous in‐terventional closure of atrial septal defect , P＝0.001 ;Pearson correlation analysis indicated that postoperative heart rate change was not correlated with age ,occluder size and pulmonary artery systolic pressure (PASP ) ( r＝0.017－0.182 , P＞0.05 all) . Compared with patients without preoperative pulmonary artery hypertension ,there was sig‐nificant rise in postoperative reduction amplitude of heart rate [ (2.28 ± 9.81) beats／min vs. (11. 35 ± 10.73) beats／min] in those with preoperative elevated pulmonary systolic pressure (≥25mmHg) , P＝0.038 .Conclusion : After percutaneous interventional closure ,heart rate significantly decreases in patients with atrial septal defect .Presence of preoperative pulmonary artery hypertension can be regarded as a risk predictor for postoperative heart rate reduction .

Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice / Síndromes Genéticas Associadas a Defeitos Cardíacos Congênitos e Alterações Oftalmológicas - Sistematização para o Diagnóstico na Pratica Clínica

Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

Resumo Fundamento: O número de síndromes genéticas descritas que apresentam alguma forma de cardiopatia e manifestações oculares associadas é grande. Contudo, estas síndromes ainda não foram reunidas e sintetizadas para melhor consulta e comparação. Objetivo: O objetivo deste trabalho é sistematizar a literatura, avaliando evidências disponíveis sobre síndromes que cursam com cardiopatia congênita associada a alterações oculares, salientando os tipos de alterações anatômicas e funcionais descritas. Métodos: Dois pesquisadores independentes fizeram uma busca sistemática utilizando as bases eletrônicas Medline (PubMed, Embase, Cochrane, Lilacs), de trabalhos publicados até o mês de janeiro de 2016. Os critérios de elegibilidade utilizados pelos autores incluíram somente artigos publicados sob a forma de relatos de caso ou revisão, que abordassem a associação de alterações oftalmológicas e cardiológicas em pacientes menores de 18 anos e que apresentassem alguma síndrome genética. Resultados: As síndromes genéticas mais frequentes foram: Síndrome de Down, Síndrome Velo-cardio-facial / DiGeorge, Síndrome de Charge e Síndrome de Noonan. Entre as malformações cardíacas, a comunicação interatrial (77,4%), a comunicação interventricular (51.6%), a persistência do canal arterial (35,4%), estenose da artéria pulmonar (25,8%) e a tetralogia de Fallot (22,5%) foram as mais associadas com achados oculares. Conclusão: Devido à sua variedade clínica, as malformações cardíacas congênitas revelam defeitos que evoluem de maneira assintomática até aqueles que provocam grande morbimortalidade. Dessa forma, encontrar características extra-cardíacas que, de alguma maneira, possam auxiliar no diagnóstico da doença ou revelar a gravidade dessa enfermidade tornam-se de grande relevância.