A comparative study of three palliative surgical approaches for pulmonary atresia with ventricular septal defect / 中国胸心血管外科临床杂志

@#Objective    To compare and investigate the efficacy and differences of modified B-T shunt, central shunt and right ventricle-pulmonary artery (RV-PA) connection in the treatment of pulmonary atresia with ventricular septal defect (PA/VSD). Methods    A total of 124 children with PA/VSD underwent initial palliative repair in Shanghai Children's Medical Center from September 2014 to August 2019, including 63 males and 61 females, aged 7 days to 15 years. They were divided into in a modified B-T shunt group (55 patients), a central shunt group (22 patients) and a RV-PA connection group (47 patients). The clinical data of these children were retrospectively analyzed. Results    There were 9 early deaths after palliation, with an early mortality rate of 7.3%. The mean follow-up time was 26.5±20.3 months, with 5 patients lost to follow-up, 5 deaths during the follow-up period, and 105 survivors. The 1-year and 5-year survival rates were both 89.7%. The monthly increased Nakata index was 5.2 (–0.2, 12.3) mm2/m2, 9.2 (0.1, 23.6) mm2/m2, 6.3 (1.8, 23.3) mm2/m2 in the modified B-T shunt group, the central shunt group, and the RV-PA connection group, respectively, with no statistical difference among the three groups. The 1-year survival rate was 85.3%, 78.4%, 95.2%, and the 5-year (4-year in the central shunt group) survival rate was 85.3%, 58.8%, 95.2% in the three groups, respectively, with a statistical difference among them (P<0.05). The complete repair rate was 36.5%, 19.0% and 67.4% in the three groups, respectively, with a statistical difference among the three groups (P<0.001). Conclusion    All these three palliative surgical approaches can effectively promote pulmonary vascular development. But compared with systemic-pulmonary shunt, RV-PA connection has a lower perioperative mortality rate and can achieve a higher complete repair rate at a later stage, which is beneficial for long-term prognosis.

Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico / Frecuencia de la deleción del cromosoma 22q11.2 en recién nacidos con cardiopatías congénitas no sindrómicas del occidente de México

Abstract Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been performed in Mexico. Methods: We conducted a prospective hospital-based study from January 2017 to March 2021 in the Genetics and Pediatric Cardiology Services of the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). All consecutive NBs identified with any non-syndromic major CHD confirmed by echocardiography were eligible to participate. A total of 98 NBs were included, 51 males and 47 females. Fluorescence in situ hybridization (FISH) analysis was conducted to search for deletion of chromosome 22q11.2 in interphase nuclei of standard lymphocyte cultures. Results: We found eight patients (8.2%) with CHD and the 22q11.2 deletion, all of them with conotruncal defects, particularly of the truncus arteriosus (p = 0.013), tetralogy of Fallot (p = 0.024), and pulmonary atresia with ventricular septal defect (p = 0.031) subtypes. With de exception of one infant with hypocalcemia and another with hypocalcemia and thymic aplasia, the diagnosis of 22q11.2 deletion was not clinically suspected in the other patients. Conclusions: Our results confirm the importance of excluding the presence of the 22q11.2 deletion in every NB with CHDs, particularly of the conotruncal subtype, even in the absence of other manifestations.

Resumen Introducción: Las cardiopatías congénitas (CC) son una de las manifestaciones más frecuentes del síndrome de deleción 22q11.2. A pesar de que existen relativamente pocos estudios dirigidos a detectar específicamente la deleción 22q11.2 en recién nacidos (RN) con CC, ninguno de ellos ha sido realizado en México. Métodos: Se realizó un estudio prospectivo de base hospitalaria desde enero de 2017 hasta marzo de 2021 en los Servicios de Genética y Cardiología Pediátrica del Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, México). Todos los RN consecutivos identificados con cualquier tipo de CC mayor no sindrómica confirmada por ecocardiografía fueron elegibles para participar. Se incluyeron 98 recién nacidos, 51 de sexo masculino y 47 de sexo femenino. Mediante el análisis de hibridación fluorescente in situ (FISH, por sus siglas en inglés) se realizó la búsqueda de la deleción del cromosoma 22q11.2 en núcleos en interfase de cultivos de linfocitos estándar. Resultados: Se encontraron ocho pacientes (8.2%) con CC y la deleción 22q11.2, todos ellos con defectos conotruncales, particularmente de los subtipos tronco arterioso (p = 0.013), tetralogía de Fallot (p = 0.024) y atresia pulmonar con comunicación interventricular (p = 0.031). Con excepción de un lactante con hipocalcemia y otro con hipocalcemia y aplasia tímica, el diagnóstico de deleción 22q11.2 no se sospechó clínicamente en los demás pacientes. Conclusiones: Los resultados de este trabajo confirman la importancia de excluir la presencia de la deleción 22q11.2 en todos los RN con CC, particularmente del subtipo conotruncal, incluso en ausencia de otras manifestaciones.

The prenatal diagnosis classification and prognostic evaluation in fetal pulmonary atresia with ventricular septal defect / 中华超声影像学杂志

To explore the prenatal diagnosis classification and prognostic evaluation of fetal pulmonary atresia with ventricular septal defect ( PA/VSD ) . Methods T hirty‐one fetal pulmonary atresia with ventricular septal defect were classified Ⅰ － Ⅳ type by Boston classification ,and the McGoon indexes were calculated ,w hether associated with malformation and chromosomal abnormalities ,and follow‐up . Results T hirteen fetuses were diagnosed type Ⅰ PA/VSD , 6 fetuses were associated with malformation ,2 fetuses were chromosomal abnormalities , 7 fetuses′ McGoon index ＞ 1 .20 ,6 fetuses′McGoon index＜1 .20 ,8 cases had operation ( 6 cases had radical operation and had a good follow up ,2 cases had palliative operation and were waiting for radical operation) , 5 cases received termination of pregnancy . Six fetuses were diagnosed as type Ⅱ PA/VSD ,5 fetuses were associated with malformation ,1 fetus was chromosomal abnormalities ,1 fetus′s McGoon index＞ 1 .20 ,5 fetuses′ McGoon index＜ 1 .20 ,2 cases had operation ( 1 case had radical operation and had a good follow up ,1 case had palliative operation and was waiting for radical operation) ,4 fetuses received termination of pregnancy . Four fetuses were diagnosed as type Ⅲ PA/VSD ,3 fetuses were associated with malformation ,no fetus was chromosomal abnormalities ,4 fetuses′McGoon index＜1 .20 ,1 case had palliative operation and was waiting for radical operation , 3 cases received termination of pregnancy . Eight fetuses were diagnosed as type Ⅳ PA/VSD ,3 fetuses were associated with malformation , 3 fetuses were chromosomal abnormalities , 1 case had unifocalization operation ,but died after operation in one day ,7 cases received termination of pregnancy . T he area under the ROC curve of McGoon index in hinting PA/VSD postnatal radical operation was 1 .000 ( P ＝ 0 .002 ,95%CI :1 .0000 － 1 .000 ) , the border value was 1 .255 , the sensitivity and specificity were 100% ,85 .7% , respectively . Conclusions Echocardiography can diagnose the classification of fetal PA/VSD . The radical operation for cases of McGoon index ＞1 .255 is feasible ,the cases of type Ⅳ PA/VSD and PA/VSD with associated malformation and chromosomal abnormalities have a poor follow up .

Impact of Right Ventricle to Pulmonary Artery Connection or Systemic-to-Pulmonary Artery Shunt Surgery on Promoting the Development of Pulmonary Vasculature in Patients With Pulmonary Atresia and Ventricular Septal Defect / 中国循环杂志

Objectives: To compare the effect between the right ventricle to pulmonary artery connection and the systemic-to-pulmonary artery shunt palliative surgery in patients with pulmonary atresia and ventricular septal defect. Methods: A total of 92 consecutive patients (mean age [1.69 ± 1.72] years, range 0.2-8.1 years) diagnosed with pulmonary atresia, ventricular septal defect and pulmonary artery hypoplasia (Nakata index [87.51 ± 36.97] mm2/m2; McGoon ratio 0.97±0.28) from December 2009 to August 2012 in our hospital were included in this retrospective study. 45 patients underwent the procedure of right ventricle to pulmonary artery connection (RV-PA) and 47 underwent the systemic-to-pulmonary artery shunt surgery, some patients also received simultaneous transcatheter occlusion of major aortopulmonary collaterals and/or pulmonary angioplasty. The mechanical ventilation time and ICU monitoring time, the pulmonary vascular growth and the anatomical repair rate were compared between the two groups. Results: The mean follow up time was (2.01±1.02)years. Nakata index and McGoon ratio equally increased significantly post operation as compared to baseline level (P<0.001). Incidence of final anatomical repair was significantly higher in the RV-PA group than in the systemic-to-pulmonary artery shunt group (62.2% vs 31.9%,P<0.01). During the anatomical repair operation, the incidence of cyanosis improvement was significantly higher, while the operation time was significantly shorter in the RV-PA group than in the systemic-to-pulmonary artery shunt group(both P<0.05). Mechanical ventilation time and ICU monitoring time also tended to be shorter in the RV-PA group (P>0.05). Conclusions: The palliative right ventricle to pulmonary artery connection surgery is related to higher rate of final anatomical repair in patients with pulmonary atresia and ventricular septal defect and may help the patients recover after the anatomical repair.

Síndrome de cimitarra asociado a atresia pulmonar con comunicación interventricular: Primer caso reportado / Scimitar syndrome associated to pulmonary atresia with interventricular communication: First reported case

Se presenta el caso de un masculino de 15 meses de edad con síndrome de cimitarra y atresia pulmonar con comunicación interventricular. El diagnóstico se hizo mediante cateterismo cardíaco y angiocardiografía y confirmado por el estudio de autopsia. Se hacen las consideraciones clínicas y quirúrgicas de esta excepcional asociación que a la fecha es, hasta donde sabemos la primera reportada en la literatura.

We present the case of a 15 months-old male with Scimitar Syndrome associated with ventricular septal defect and pulmonary atresia. The diagnosis was made by cardiac catheterization and angiography and was confirmed by the necropsy. Clinical and surgical considerations of this exceptional association were made. To the best of our knowledge this is the first case reported in the relevant literature.

Origins, Distributions and Characteristics of Collateral Circulation in Pulmonary Atresia with Ventricular Septal Defect: A Cineangiographic Study

BACKGROUND: The sources of pulmonary blood flow in patients with pulmonary atresia and ventricular septal defect (PA/VSD) are very diverse, and detailed informations for the pulmonary circulation are essential for successful treatment. The purpose of this study is to examine and define the origins, distributions and characteristics of collateral circulations in patients with PA/VSD and major aortopulmonary collateral arteries (MAPCAs). METHODS: 34 patients diagnosed as PA/VSD and MAPCA were studied between May 1992 and April 1996. 85 MAPCAs were investigated for the sites of origin, distributions and characteristics by review of biplane angiograms. The characteristics of MAPCAs were examined in the aspects of anastomosis sites and sites/types of stenosis. RESULTS: 1) In 34 subjects, a total of 85 MAPCAs existed which supplied blood to 344 bronchopulmonary segments (4.1 BPS/MAPCA). 2) The origin sites of MAPCAs were the descending aorta (72%), the branch of aortic arch (16%), and the aortic arch or ascending aorta (12%). 3) The BPSs which frequently take primary blood supply from MAPCA were the 3 BPSs of upper lobe and superior / posterior basal segment of lower lobe in the right lung, and the superior / posterior basal segment of lower lobe in the left lung. 4) The BPS having apparent dual blood supply was 13.4% and the most frequent was the superior and posterior basal segment of the right lower lobe. 5) In total, 64% of MAPCA had anastomosis, and anastomosis in the lobar pulmonary artery was 48% to be the most frequent. 6) Stenosis was observed in 61% of MAPCAs. The site of stenosis was midportion (33%), originating portion (27%), multiple (26%), peripheral (14%), and the type of stenosis was focal (53%), segmental (31%), diffuse (16%), in the order of frequency. CONCLUSION: In PA/VSD and MAPCA, selective angiogram should be performed in all the different blood-supplying sources of the lung for detailed information of the pulmonary circulation. When the blood sources of the pulmonary circulation is uncertain, elaborated efforts to find the blood sources, by angiograms in the frequent locations of MAPCA, are neccessary. We believe this study to be useful for precise planning in the diagnosis and treatment of PA/VSD and MAPCA.