We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants...We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants in PLD1.In his parents’second pregnancy,echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child.Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling.This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.展开更多
Among all congenital heart disease,Ebstein anomaly is the lesion with the widest spectrum of presentation.It can present as early as the neonatal period where immediate intervention is often needed to the adult with n...Among all congenital heart disease,Ebstein anomaly is the lesion with the widest spectrum of presentation.It can present as early as the neonatal period where immediate intervention is often needed to the adult with no discernable symptoms.It is also one where overall outcome greatly relates to age at presentation.Generally,presentation in the neonatal period is associated with poor outcomes while presentation beyond the neonatal period has excellent outcomes with low operative mortality.It is thus apparent that understanding every aspect of the anatomy and physiology of Ebstein anomaly and how it manifests clinically is paramount to successful treatment.The purpose of this review is to outline the current concepts and strategies in the surgical management of Ebstein anomaly,and to discuss the current expert consensus on how best to tackle this congenital heart disease at different ages of diagnosis.展开更多
目的 探讨彩色多普勒超声心动图对儿童先天性右心房畸形(congenital malformations of the right atrium, CMRA)的诊断价值,分析漏诊与误诊原因,提高超声心动图对儿童CMRA的首次检出率。方法 选取并分析22例经手术与MRI及CT诊断为CMRA...目的 探讨彩色多普勒超声心动图对儿童先天性右心房畸形(congenital malformations of the right atrium, CMRA)的诊断价值,分析漏诊与误诊原因,提高超声心动图对儿童CMRA的首次检出率。方法 选取并分析22例经手术与MRI及CT诊断为CMRA的患儿资料,其中11例行胸外科手术治疗。结果 本组原发性右心房扩张15例、右心房憩室3例、原发性右心耳扩张3例、冠状静脉窦憩室1例。单纯性CMRA患儿10例,合并畸形12例,包括卵圆孔未闭5例、房间隔缺损4例、三尖瓣轻-中度反流3例、三尖瓣发育不良1例、三尖瓣重度反流1例;7例合并阵发性室上性心动过速等严重的心律失常。22例超声诊断正确18例(81.8%);漏诊与误诊4例(18.2%),其中误诊3例,漏诊1例;1例右心房憩室误诊为原发性右心房扩张,1例原发性右心房扩张误诊为原发性右心耳扩张,1例冠状静脉窦憩室误诊为冠状静脉窦狭窄,1例原发性右心房扩张漏诊。结论 彩色多普勒超声心动图可以比较准确地诊断儿童CMRA,但容易漏、误诊。展开更多
目的实施前瞻性队列研究,探讨胎儿永久性右脐静脉(persistent right umbilical vein,PRUV)的产前诊断及临床预后。方法选择2008年1月至2010年1月在四川大学华西第二医院对中、低危妊娠孕妇,采用超声系统筛查胎儿永久性右脐静脉及其他结...目的实施前瞻性队列研究,探讨胎儿永久性右脐静脉(persistent right umbilical vein,PRUV)的产前诊断及临床预后。方法选择2008年1月至2010年1月在四川大学华西第二医院对中、低危妊娠孕妇,采用超声系统筛查胎儿永久性右脐静脉及其他结构异常及胎儿染色体检查(本研究程序符合本院人体试验委员会制定的伦理学标准,得到该委员会批准,并与受试对象签署临床研究知情同意书)。结果产前超声诊断胎儿永久性右脐静脉为20例(20/7692,0.26%)。其中,永久性右脐静脉合并其他结构异常胎儿为4例(20%,4/20),孤立性永久性右脐静脉为16例(80%,16/20)。14例孤立性永久性右脐静脉胎儿产后生长发育正常。行胎儿染色体检查为9例,其中21-三体综合征为1例,且合并严重结构异常。结论产前超声诊断胎儿永久性右脐静脉时,应对胎儿进行系统筛查,以排除严重胎儿结构异常。80%胎儿永久性右脐静脉是孤立性的,妊娠结局良好。胎儿永久性右脐静脉合并多种胎儿结构异常时,应进行胎儿染色体检查。展开更多
目的分析先天性右心房畸形（congenital malformations of the right atrium，CMRA）的彩色多普勒超声心动图特矸，评价多普勒超声心动网对CMRA的诊断价值。方法回顾性分析11例经心外科手术诊断为CMRA患者的超声心动图资料。结果CMRA声...目的分析先天性右心房畸形（congenital malformations of the right atrium，CMRA）的彩色多普勒超声心动图特矸，评价多普勒超声心动网对CMRA的诊断价值。方法回顾性分析11例经心外科手术诊断为CMRA患者的超声心动图资料。结果CMRA声像图特征为右心房或有心耳明显扩张，右心房壁及冠状静脉窦管腔憩室形成。本组原发性右心房扩张4例，右心房憩室3例，原发性右心耳扩张2例，冠状静脉窦憩室2例。本组单纯性CMRA3例，合并其他心血管系统畸形8例，其中卵圆孔未闭6例，房间隔缺损3例，肺动脉高压3例，三尖瓣发育小2例。11例患儿中，超声诊断符合8例（72．7％），误诊3例（27．3％），其中1例原发性右心房扩张误诊为三尖瓣下移畸形，1例右心房憩室误诊为原发性右心耳扩张，1例冠状静脉窦憩室误诊为冠状静脉窦开VI狭窄。结论多普勒超声心动图技术可以比较准确地诊断先天性右心房畸形的各种病变，但容易误诊，需要与三尖瓣下移畸形进行鉴别。展开更多
基金This work was funded by the Ted Rogers Centre for Heart Research.
文摘We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants in PLD1.In his parents’second pregnancy,echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child.Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling.This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.
文摘Among all congenital heart disease,Ebstein anomaly is the lesion with the widest spectrum of presentation.It can present as early as the neonatal period where immediate intervention is often needed to the adult with no discernable symptoms.It is also one where overall outcome greatly relates to age at presentation.Generally,presentation in the neonatal period is associated with poor outcomes while presentation beyond the neonatal period has excellent outcomes with low operative mortality.It is thus apparent that understanding every aspect of the anatomy and physiology of Ebstein anomaly and how it manifests clinically is paramount to successful treatment.The purpose of this review is to outline the current concepts and strategies in the surgical management of Ebstein anomaly,and to discuss the current expert consensus on how best to tackle this congenital heart disease at different ages of diagnosis.
文摘目的 探讨彩色多普勒超声心动图对儿童先天性右心房畸形(congenital malformations of the right atrium, CMRA)的诊断价值,分析漏诊与误诊原因,提高超声心动图对儿童CMRA的首次检出率。方法 选取并分析22例经手术与MRI及CT诊断为CMRA的患儿资料,其中11例行胸外科手术治疗。结果 本组原发性右心房扩张15例、右心房憩室3例、原发性右心耳扩张3例、冠状静脉窦憩室1例。单纯性CMRA患儿10例,合并畸形12例,包括卵圆孔未闭5例、房间隔缺损4例、三尖瓣轻-中度反流3例、三尖瓣发育不良1例、三尖瓣重度反流1例;7例合并阵发性室上性心动过速等严重的心律失常。22例超声诊断正确18例(81.8%);漏诊与误诊4例(18.2%),其中误诊3例,漏诊1例;1例右心房憩室误诊为原发性右心房扩张,1例原发性右心房扩张误诊为原发性右心耳扩张,1例冠状静脉窦憩室误诊为冠状静脉窦狭窄,1例原发性右心房扩张漏诊。结论 彩色多普勒超声心动图可以比较准确地诊断儿童CMRA,但容易漏、误诊。
文摘目的实施前瞻性队列研究,探讨胎儿永久性右脐静脉(persistent right umbilical vein,PRUV)的产前诊断及临床预后。方法选择2008年1月至2010年1月在四川大学华西第二医院对中、低危妊娠孕妇,采用超声系统筛查胎儿永久性右脐静脉及其他结构异常及胎儿染色体检查(本研究程序符合本院人体试验委员会制定的伦理学标准,得到该委员会批准,并与受试对象签署临床研究知情同意书)。结果产前超声诊断胎儿永久性右脐静脉为20例(20/7692,0.26%)。其中,永久性右脐静脉合并其他结构异常胎儿为4例(20%,4/20),孤立性永久性右脐静脉为16例(80%,16/20)。14例孤立性永久性右脐静脉胎儿产后生长发育正常。行胎儿染色体检查为9例,其中21-三体综合征为1例,且合并严重结构异常。结论产前超声诊断胎儿永久性右脐静脉时,应对胎儿进行系统筛查,以排除严重胎儿结构异常。80%胎儿永久性右脐静脉是孤立性的,妊娠结局良好。胎儿永久性右脐静脉合并多种胎儿结构异常时,应进行胎儿染色体检查。
文摘目的分析先天性右心房畸形（congenital malformations of the right atrium，CMRA）的彩色多普勒超声心动图特矸，评价多普勒超声心动网对CMRA的诊断价值。方法回顾性分析11例经心外科手术诊断为CMRA患者的超声心动图资料。结果CMRA声像图特征为右心房或有心耳明显扩张，右心房壁及冠状静脉窦管腔憩室形成。本组原发性右心房扩张4例，右心房憩室3例，原发性右心耳扩张2例，冠状静脉窦憩室2例。本组单纯性CMRA3例，合并其他心血管系统畸形8例，其中卵圆孔未闭6例，房间隔缺损3例，肺动脉高压3例，三尖瓣发育小2例。11例患儿中，超声诊断符合8例（72．7％），误诊3例（27．3％），其中1例原发性右心房扩张误诊为三尖瓣下移畸形，1例右心房憩室误诊为原发性右心耳扩张，1例冠状静脉窦憩室误诊为冠状静脉窦开VI狭窄。结论多普勒超声心动图技术可以比较准确地诊断先天性右心房畸形的各种病变，但容易误诊，需要与三尖瓣下移畸形进行鉴别。
