Congenital heart disease(CHD)is observed in up to 1%of live births and is one of the leading causes of mortality from birth defects.While hundreds of genes have been implicated in the genetic etiology of CHD,their rol...Congenital heart disease(CHD)is observed in up to 1%of live births and is one of the leading causes of mortality from birth defects.While hundreds of genes have been implicated in the genetic etiology of CHD,their role in CHD pathogenesis is still poorly understood.This is largely a reflection of the sporadic nature of CHD,as well as its variable expressivity and incomplete penetrance.We reviewed the monogenic causes and evidence for oligogenic etiology of CHD,as well as the role of de novo mutations,common variants,and genetic modifiers.For further mechanistic insight,we leveraged single-cell data across species to investigate the cellular expression characteristics of genes implicated in CHD in developing human and mouse embryonic hearts.Understanding the genetic etiology of CHD may enable the application of precision medicine and prenatal diagnosis,thereby facilitating early intervention to improve outcomes for patients with CHD.展开更多
BACKGROUND Double outlet right ventricle(DORV)is a rare and complex congenital heart defect,and the surgical repairs vary with type and pathophysiology consequences.Due to prolonged progressive hypoxemia,severe polycy...BACKGROUND Double outlet right ventricle(DORV)is a rare and complex congenital heart defect,and the surgical repairs vary with type and pathophysiology consequences.Due to prolonged progressive hypoxemia,severe polycythemia is common in patients with DORV,which ultimately leads to coagulation dysfunction and increases the risk of thrombosis and infarction.Consequently,the anesthetic management is challenging and how to manage severe polycythemia and avoid hypoxia-related complications in such patients is of great significance.CASE SUMMARY Herein,we report the anesthetic management of a 10-year-old female patient with a DORV.She lived in the low-oxygen Qinghai-Tibet Plateau,and presented with severe polycythemia(hemoglobin,24.8 g/dL;hematocrit,75%).She underwent a modified Fontan surgery,which was satisfactory and without any perioperative complications.Our anesthetic management highlights the importance of perioperative hemodilution in decreasing the risk of thromboembolism and the importance of correcting coagulopathy in preventing hemorrhage.CONCLUSION Anesthetic management is challenging in rare cyanotic congenital heart disease patients with severe polycythemia.It is important to adopt perioperative hemodilution and correction of coagulopathy in preventing thrombosis and hemorrhage.展开更多
Introduction: In Cote d’Ivoire, the paediatrician has to face a diagnosis and management problem in front of pediatric heart disease, with consequent a high lethality. Objective: To describe the epidemiological, diag...Introduction: In Cote d’Ivoire, the paediatrician has to face a diagnosis and management problem in front of pediatric heart disease, with consequent a high lethality. Objective: To describe the epidemiological, diagnostic, therapeutic and progressive aspects of childhood cardiopathy for the improvement of prognosis and professional practice. Materials and methods: This was a multicenter retrospective and descriptive study conducted from January 2011 to March 2016 in two main hospitals universities, one located in Abidjan and the other in Bouaké. It concerned children aged 0 to 15 admitted for cardiac disease diagnosed on clinical and/or echocardiographic arguments. The variables studied were the epidemiological, diagnostic, therapeutic and evolutionary aspects. Results: A total of 49.760 admissions including 228 infantile heart disease cases (congenital 113, acquired 51, indeterminate 64) are overall prevalence of 4.6‰. They involved 106 boys and 122 girls. In 74.6% of cases, the age was between 0 and 2 years. Respiratory distress 73.7% was the main reason for consultation. The main congenital heart diseases (CHD) are ventricular septal defect (VSD) (31%), atrial septal defect (ASD) (20.4%), atrioventricular canal (AVSD) (12.4%) and tetralogy of Fallot (TOF) (11.5%). As for acquired forms (AHD), rheumatic mitral insufficiency (41.2%) and tuberculous pericarditis (15.7%) were the two main causes. Treatment progress is marked by stabilization (71.1%) and death (14%). Death was significantly associated with low socioeconomic status (p = 0.01) and with complication (p 0.001). Conclusion: Infantile heart diseases are relatively less frequent and serious in Cote d’Ivoire. To improve the prognosis, close collaboration between the pediatrician and the cardiologist is required for early diagnosis and management.展开更多
目的探讨儿童先天性心脏病(CHD)经皮介入治疗方法及其近期疗效。方法CHD患儿586例。其中单一病变535例,复合病变51例,CHD缺损在经胸彩色超声心动图(TTE)及X线影像指导下,经皮沿导丝经传送鞘管将合适的封堵器至缺损处行封堵。肺动脉瓣狭...目的探讨儿童先天性心脏病(CHD)经皮介入治疗方法及其近期疗效。方法CHD患儿586例。其中单一病变535例,复合病变51例,CHD缺损在经胸彩色超声心动图(TTE)及X线影像指导下,经皮沿导丝经传送鞘管将合适的封堵器至缺损处行封堵。肺动脉瓣狭窄采用Inoue球囊或聚乙烯球囊行肺动脉瓣球囊扩张术。结果TTE测量房间隔缺损(ASD)为(14.8±7.1)mm,所用封堵器为(19.1±8.4)mm;左室造影测量室间隔缺损(VSD)直径为(6.3±2.9)mm,使用封堵器(8.1±3.4)mm;造影测量动脉导管未闭(PDA)最窄处直径为(6.1±2.8)mm,所选用封堵器肺动脉侧为(10.0±3.2)mm,主动脉侧为(12.0±3.2)mm;介入成功561例,25例未封堵成功,成功率95.8%,成功者术后即刻未见明显分流;肺动脉瓣球囊扩张术后患者跨瓣压差均降至20 mm Hg以下。结论儿童CHD经皮介入治疗操作简单、成功率高、安全可靠,近期疗效好。展开更多
文摘Congenital heart disease(CHD)is observed in up to 1%of live births and is one of the leading causes of mortality from birth defects.While hundreds of genes have been implicated in the genetic etiology of CHD,their role in CHD pathogenesis is still poorly understood.This is largely a reflection of the sporadic nature of CHD,as well as its variable expressivity and incomplete penetrance.We reviewed the monogenic causes and evidence for oligogenic etiology of CHD,as well as the role of de novo mutations,common variants,and genetic modifiers.For further mechanistic insight,we leveraged single-cell data across species to investigate the cellular expression characteristics of genes implicated in CHD in developing human and mouse embryonic hearts.Understanding the genetic etiology of CHD may enable the application of precision medicine and prenatal diagnosis,thereby facilitating early intervention to improve outcomes for patients with CHD.
基金The 1.3.5.Project for Disciplines of Excellence,No.2018HXFH046West China Hospital,Sichuan University and the National Natural Science Foundation of China,No.81971806.
文摘BACKGROUND Double outlet right ventricle(DORV)is a rare and complex congenital heart defect,and the surgical repairs vary with type and pathophysiology consequences.Due to prolonged progressive hypoxemia,severe polycythemia is common in patients with DORV,which ultimately leads to coagulation dysfunction and increases the risk of thrombosis and infarction.Consequently,the anesthetic management is challenging and how to manage severe polycythemia and avoid hypoxia-related complications in such patients is of great significance.CASE SUMMARY Herein,we report the anesthetic management of a 10-year-old female patient with a DORV.She lived in the low-oxygen Qinghai-Tibet Plateau,and presented with severe polycythemia(hemoglobin,24.8 g/dL;hematocrit,75%).She underwent a modified Fontan surgery,which was satisfactory and without any perioperative complications.Our anesthetic management highlights the importance of perioperative hemodilution in decreasing the risk of thromboembolism and the importance of correcting coagulopathy in preventing hemorrhage.CONCLUSION Anesthetic management is challenging in rare cyanotic congenital heart disease patients with severe polycythemia.It is important to adopt perioperative hemodilution and correction of coagulopathy in preventing thrombosis and hemorrhage.
文摘Introduction: In Cote d’Ivoire, the paediatrician has to face a diagnosis and management problem in front of pediatric heart disease, with consequent a high lethality. Objective: To describe the epidemiological, diagnostic, therapeutic and progressive aspects of childhood cardiopathy for the improvement of prognosis and professional practice. Materials and methods: This was a multicenter retrospective and descriptive study conducted from January 2011 to March 2016 in two main hospitals universities, one located in Abidjan and the other in Bouaké. It concerned children aged 0 to 15 admitted for cardiac disease diagnosed on clinical and/or echocardiographic arguments. The variables studied were the epidemiological, diagnostic, therapeutic and evolutionary aspects. Results: A total of 49.760 admissions including 228 infantile heart disease cases (congenital 113, acquired 51, indeterminate 64) are overall prevalence of 4.6‰. They involved 106 boys and 122 girls. In 74.6% of cases, the age was between 0 and 2 years. Respiratory distress 73.7% was the main reason for consultation. The main congenital heart diseases (CHD) are ventricular septal defect (VSD) (31%), atrial septal defect (ASD) (20.4%), atrioventricular canal (AVSD) (12.4%) and tetralogy of Fallot (TOF) (11.5%). As for acquired forms (AHD), rheumatic mitral insufficiency (41.2%) and tuberculous pericarditis (15.7%) were the two main causes. Treatment progress is marked by stabilization (71.1%) and death (14%). Death was significantly associated with low socioeconomic status (p = 0.01) and with complication (p 0.001). Conclusion: Infantile heart diseases are relatively less frequent and serious in Cote d’Ivoire. To improve the prognosis, close collaboration between the pediatrician and the cardiologist is required for early diagnosis and management.
文摘目的探讨儿童先天性心脏病(CHD)经皮介入治疗方法及其近期疗效。方法CHD患儿586例。其中单一病变535例,复合病变51例,CHD缺损在经胸彩色超声心动图(TTE)及X线影像指导下,经皮沿导丝经传送鞘管将合适的封堵器至缺损处行封堵。肺动脉瓣狭窄采用Inoue球囊或聚乙烯球囊行肺动脉瓣球囊扩张术。结果TTE测量房间隔缺损(ASD)为(14.8±7.1)mm,所用封堵器为(19.1±8.4)mm;左室造影测量室间隔缺损(VSD)直径为(6.3±2.9)mm,使用封堵器(8.1±3.4)mm;造影测量动脉导管未闭(PDA)最窄处直径为(6.1±2.8)mm,所选用封堵器肺动脉侧为(10.0±3.2)mm,主动脉侧为(12.0±3.2)mm;介入成功561例,25例未封堵成功,成功率95.8%,成功者术后即刻未见明显分流;肺动脉瓣球囊扩张术后患者跨瓣压差均降至20 mm Hg以下。结论儿童CHD经皮介入治疗操作简单、成功率高、安全可靠,近期疗效好。
