Williams syndrome is a congenital multisystem disease. Cardiovascular abnormality caused by elastin deficiency is the main cause of morbidity and mortality in Williams syndrome patients. Recent studies have found that 80% of Williams syndrome patients have cardiovascular abnormalities, most of which are arterial stenosis, especially the aortic valve stenosis and pulmonary artery stenosis. Operation is the main method to treat the stenosis of the artery, and the results of the operation on the aortic valve stenosis in most centers are good, but the effect of transcatheter intervention is still not obvious, pulmonary artery reconstruction has a good effect on the treatment of peripheral pulmonary artery stenosis. Advances in genetic diagnosis, surgical techniques and treatment regimens are expected to significantly improve cardiovascular outcomes in these patients. This article reviews the latest research progress of Williams syndrome combined with cardiovascular disease.
Congenital heart disease (CHD) is a series of structural cardiac abnormalities resulting from abnormal fetal heart development. With the prolongation of survival time, their cognitive function problems begin to be concerned. From fetus period to adulthood, people with complex CHD are more likely to have abnormalities in brains. Children with complex CHD have a significantly increased risk of developmental disorders in cognitive functions, such as intelligence, attention and psychosocial disorders. These diseases persist into their adulthood. Adults with CHD have earlier neurocognitive decline, poorer performance in intelligence, executive function, attention and academic achievement, and are more likely to have mood disorders, higher incidence of mental disorders and lower quality of life. This paper reviews the studies on cognitive function of adult patients with CHD from the dimension of the whole life cycle.
Abstract： Objective To analyze the early outcomes of open heart surgery for congenital heart diseases in sixty low birth weight infants and premature infants. Methods Sixty low birth weight infants （body weight＜2 500 g） and premature infants with congenital heart diseases undergoing surgical repair from May 2003 to October 2011 were studied retrospectively in Guangdong Cardiovascular Institute. There were 43 male patients and 17 female patients with their mean gestational age of 33.5±4.1 weeks （ranging from 26 to 42 weeks） and mean age at operation of 24.9±12.5 d（ranging from 4 to 55 d）. Among them there were 47 premature infants with their mean birth weight of 1 729.3±522.5 g（ranging from 640 to 2 500 g）and mean weight at operation of 1 953.2±463.6 g （ranging from 650 to 2 712 g）. All the patients received preoperative treatment in newborn intensive care unit（NICU） and underwent surgical repair under general anesthesia, including 29 patients without cardiopulmonary bypass （CPB）and 31 patients with CPB . All surviving patients received postoperative monitoring and treatment in NICU, and their postoperative complications and in-hospital death were reported. Results A total of 13 patients died during hospitalization with a total in-hospital mortality of 21.7%（13/60）, including 4 intra-operative deaths, 6 early deaths （within 72 h postoperatively） and 3 patients giving up postoperative treatment. CPB time was 121.0±74.7 min, aortic clamp time was 74.8±44.7 min, and postoperative mechanicalventilation time was （136.9±138.1）h. Thirteen patients underwent delayed sternal closure. Eight patients underwentreexploation for postoperative bleeding. Ten patients had severe pneumonia, 2 patients had pulmonary hypertensive crisis, and 8 patients had low cardiac output syndrome. All the postoperative complications were resolved or improved after proper treatment. Follow-up was complete in 47 patients from 2 to 12 monthes, and all the patients were alive during follow-up. Conclusion Early surgical repair for low birth weight infants and premature infants with congenital heart diseases is safe and effective.
Congenital heart disease refers to the structural or functional abnormality of the macrovascular in the heart or thoracic cavity caused by the failure of the formation of the heart and large blood vessels during the embryonic development or the abnormal closure of the heart or the closure of the channel after birth. In the past few years, a new and broader definition of structural heart disease has been gradually proposed. Structural heart disease narrowly refers to the pathological and physiological changes of the heart caused by abnormal anatomical structures in the heart, including congenital heart disease. A few decades ago, congenital heart disease was considered as a pediatric disease, because most patients with severe lesions rarely survive to adulthood. Due to recent advances in echocardiography, anesthesia, intensive care, percutaneous intervention, especially cardiac surgery in recent decades, the treatment and intervention strategies for congenital heart disease in children have been greatly improved, a fatal defect in childhood can now be successfully repaired or alleviated. Because of these successes, more than 90% of congenital heart disease patients are expected to survive to adulthood, which has led to emerge a new population: adult patients with congenital heart disease. Adult congenital heart disease patients are different from children. Pulmonary hypertension leads to right heart failure and eventually progresses to whole heart failure. The appearance of Eisenmenger syndrome leads to severe cyanosis and worsening of the disease. At present, the continuous development of mechanical assisted circulation support devices and heart or cardiopulmonary transplantation technology has increased the survival rate of end-stage adult congenital heart disease patients with heart failure. The high incidence of cardiovascular events in pregnant patients requires comprehensive multidisciplinary team care and early coordination planning for delivery, including early counseling for pregnancy-related risks, close monitoring of cardiac function and regular scan of fetal assessment. The prenatal and postpartum integrated diagnosis and treatment model and the development of intrauterine treatment technology reduce the incidence of congenital heart disease in adults from the source through fetal intervention. Other complications such as arrhythmia, infective endocarditis, cerebrovascular accidents, and other medical underlying metabolic diseases also challenge future diagnosis and treatment. The incidence and epidemiology of adult congenital heart disease, pulmonary hypertension and end-stage heart failure complications, as well as prenatal and postpartum integrated diagnosis and treatment and intrauterine treatment are summarized in this review.
The diagnosis and management of congenital heart disease (CHD), the most common inborn defect, has been a tremendous success of modern medicine. With the development of diagnostic techniques, surgical procedures and interventional techniques, more than 90% of CHD children can survive to adulthood. Consequently, the prevalence of patients with CHD has shifted away from infancy and childhood towards adulthood. Adult CHD cardiology is now encompassing not only young or middle-aged adults but also patients aged above 60 years. Standardized guidelines can provide good theoretical support for the comprehensive management of adult CHD. Ten years after the European Society of Cardiology guidelines for the management of grown-up CHD released in 2010, the new version was officially released in August 2020. The new version of guidelines updated the classification and stratification of diseases, comprehensive intervention methods and intervention timing, and put forward some new concepts, new intervention standards and methods. For adult CHD that has not been repaired or needs to be repaired again, the indication and mode of surgical intervention and perioperative management have a great impact on the prognosis. The new version of the guidelines provides a detailed description of the surgical and intervention indications and methods for different diseases, and clarifies the management methods for high-risk groups. This article attempts to interpret this newly updated guideline from the perspective of a surgeon, sort out several key diseases introduced by the guideline, and strives to provide a concise and actionable guideline for domestic counterparts.
Objective To summarize the clinical experience of cardiac surgery during pregnancy in a single center for the past 11 years. MethodsThe clinical data of 26 pregnant patients (mean age 28.6±4.9 years) complicated with heart diseases who underwent non-emergency cardiac surgery with cardiopulmonary bypass from 2010 to 2020 in Guangdong Provincial People's Hospital were retrospectively analyzed. Patients were divided into two groups according to the gestational age at the time of surgery: a change group (gestational age<21 weeks) and a stable group (gestational age≥21 weeks). The hospitalization data and follow-up data of the patients were collected. ResultsMean gestational age at surgery was 23.4±4.2 weeks. Eleven patients had congenital heart diseases and fifteen had valvular heart diseases. Meanpostoperative ICU stay was 2.5±2.4 d, and mean total hospital stay was 22.5±9.5 d. There were 5 postoperative fetal losses. There was no maternal death during follow-up. No statistical difference in the maternal postoperative outcomes between two groups. ConclusionThe number of patients undergoing cardiac surgery during pregnancy is increasing. The maternal mortality rate is low and the prognosis is good, but the fetal loss remains concern. Cardiac surgery performed before or after the establishment of cardiopulmonary adjustment in pregnancy does not change the maternal postoperative outcomes.
Objective To investigate the application of delayed sternal closure (DSC) following arterial switch operation for neonates with transposition of great arteries (D-TGA). Methods We retrospectively analyzed clinical data of 172 neonates underwent arterial switch operation with transposition of great arteries (D-TGA) between June 1st 2009 and December 31st 2015. These neonates were divided into 2 groups including a DSC group (118 patients with 99 males and 19 females) and a non-DSC group (54 patients with 47 males and 7 females). The outcome of the two groups were compared. Results Preoperative mechanical ventilation(P<0.001), emergency surgery (P=0.023) and extracorporeal circulation time (P<0.001) were the risk factors for delayed sternal closure. The incidence of complications of median sternotomy incision in the DSC group was not higher than that in the non-DSC group. The mortality rate in the DSC group was markedly higher than that in the non-DSC group (P<0.001). However, DSC was not a risk factor for the death of the neonates. Conclusion Delayed sternal closure does not increase the incidence of complications of the median sternotomy incision, nor is it a risk factor for the death of the neonates. Reasonable application of delayed sternal closure is helpful for early postoperative recovery of the neonates.
Abstract： Objective To summarize surgical results of secondary subaortic stenosis （SSS） after congenital heart disease （CHD） operations，and analyze the pathogenesis of SSS. Methods We retrospectively analyzed clinical data of 19 patients who underwent surgical repair for SSS in Guangdong General Hospital from 1st June 2008 to 31st December 2012. There were 10 males and 9 females. CHD types included double outlet right ventricle，ventricular septal defect and partial atrioventricular septal defect，et al. The median age of the patients when they received their first CHD operations was 4 months （15 days to 5 year and 11 months）. The median age of the patients when they received SSS repair was 5 years and 3 months （1 year to 15 years and 3 months）. The median time interval from CHD operation to SSS repair was 4 years and 10 months （8 months to 13 years and 11 months）. Results All the patients successfully received their SSS repair. There was no surgical death in this study. Median cardiopulmonary bypass time was 79 （39 to 172） minutes，and median aortic cross-clamp time was 42 （22 to 124） minutes. Median postoperative hospital stay was 7 （5 to 9） days. Postoperatively， 1 patient required permanent pacemaker implantation. All the patients were followed up after discharge for a median durationof 1 year and 10 months （5 months to 4 years and 4 months） . During follow-up， none of the patients had any clinical symptom，their heart function was normal，and there was no late death. One patient received another subaortic stenosis repair for gradually aggravating left ventricular outflow tract stenosis. Conclusions SSS is very rare after CHD operations. The pathogenesis of SSS is perhaps related to abnormal blood flows in the left ventricular outflow tract after CHD operations. The pathogenesis time of SSS and types of CHD leading to SSS cannot be predicted. Subaortic stenosis repair is a simple and safe procedure for SSS，but postoperatively left ventricular outflow tract stenosis may appear and aggravate again.
Objective To investigate and compare the different surgical strategies for typeⅠpulmonary atresia with ventricular septum defect (PA/VSD) and the outcomes of postoperative prognosis in early stage. Methods We retrospectively analyzed the clinical data of 61 typeⅠPA/VSD patients (40 males, 21 females) with a median age of 249 days (range, 13 days-19 years) in Guangdong Cardiovascular Institute from January 2005 to December 2014 . Among them, 42 patients (27 males, 15 females) with a median age of 11.11 months, ranging from 0.80–211.70 months received radical surgery as a radical surgery group. And 19 patients (13 males, 6 females) with a median age of 2.96 months, ranging from 0.47–161.83 months underwent palliative surgery as a palliative surgery group. We compared the two surgeries and their early outcomes. Results The mean postoperative oxygen saturation was 88.08%±9.64%, which showed significant improvement compared with preoperative oxygen saturation of 74.08%±12.99% (P＜0.05). Patients in the palliative surgery group had a lower body temperature during cardiopulmonary bypass and more respiratory complications than those in the radical surgery group (24.69 °C±3.11 °C vs. 27.18 °C±2.10 °C). Conclusion Both radical and palliative surgeries are good for the increase of pulmonary blood volume and the development of pulmonary vessels. Surgeons must pay more attention to choosing radical surgery for the babies, which is only considerd for those with well developed pulmonary arteries.
Objective To review the clinical experience of one-stage repair of interrupted aortic arch(IAA) in neonate with cardiac anomalies. Methods We retrospectively analyzed the clinical data of 21 patients (18 males, 3 females) with IAA total repair in our hospital between May 2003 and September 2014. The average age of patients was 6–26 (15.9±5.8) days and the mean body weight was 3.3±0.4 kg. Fourteen patients belonged to IAA type A, and 7 patients to type B. All patients were complicated with ventricular septal defect, atrial septal defect, and patent ductus artefious. All patients with cardiac anomalies underwent one-stage repair through median sternotomy. The aortic continuity was reestablished by anastomosis between the descending aortic segment and aortic arch. Results CPB time was 92–174 (132.6±27.1) min, and aortic cross clamping time was 48-118 (70.9±18.8) min. Hospital day was 4-52 (28.0±12.1) d. There were 3 postoperative deaths. Causes of death included a cardiac arrest in one patient, hematosepsis in one patient, and a pulmonary hypertension crisis in one patient. Eighteen patients were followed up for 3 months to 11 years and the results were excellent. Conclusion One-stage repair of IAA in neonate with cardiac anomalies can improve life quality of patients and achieve good results.