胎儿先天性心脏病和心律失常的诊断及干预

目的 研究胎儿超声心动图产前诊断先天性心脏病（简称先心病）和经胎盘治疗胎儿心律失常的价值。方法 应用国产FECG－D型胎儿心电图仪筛查,结合胎儿超声心动图检测第1胎患先心病的460例胎龄为18－40周的高危胎儿,超声仪采用ALT、Maker LX和TOSHBA SSA 40A多普勒彩色超声仪,探头频率为3．5MHz。结果 发现先心病8例,同胞一级亲属患病率为1．7％。先心病的类型：房间隔缺损（简称房缺）3例（其中1例合并胎儿水肿）,室间隔缺损（简称室缺）13例（其中1例合并神经管缺损）,完全性的房室管缺损1例,法洛四联症1例。检出23例胎儿心律失常,检出率为5．0％,以室上性心动过速（简称室上速）最多见（13例）,首选地高辛经胎盘治疗,7例有效,其中3例合并先心病或心力衰竭者加用异博定2例有效,1例因有严重的非免疫性胎儿水肿而死亡;3例窦性心运过速（简称窦速）患儿用心得安治疗有效,1例频发室性早博用普鲁卡因酰胺治疗后转复。3例妊娠晚期的室上速和2例室上性早博未用药,经阴道分娩后转复。结论 胎儿超声心动图是产前诊断胎儿心脏异常的重要手段,地高辛是经胎盘治疗胎儿快速心律失常的首选药物。     

胎儿先天性心脏病介入治疗进展

既往观点认为,一旦胎儿患有左心发育不良综合征(HLHS)等严重心血管畸形,结局就只能是出生后功能性单心室循环、心脏移植或中止妊娠.到目前为止,开放性胎儿心脏外科技术尚不成熟,而通过胎儿心脏介入治疗技术可以在很大程度上阻止因先天性心脏病引起的胎儿水肿、自发性流产或胎儿死亡,促进发育不良的心室重新发育,形成生后的双心室循环,重塑右室流出道梗阻胎儿的肺血管床等,改善了胎儿严重心血管畸形的预后.这些进步在很大程度上依赖于对胎儿先天性心脏病病理生理学特点的准确判断.超声技术的发展以及其他评价手段的进步可促进目前还比较有限的胎儿先天性心脏病介入治疗进一步发展.     

胎儿先天性心脏病治疗的进展

近年来随着心脏治疗及监护技术的飞速发展,许多复杂的先天性心脏病（简称先心病）在新生儿期就可以得到有效的治疗。然而对于左心发育不良等一些严重的先天性心脏畸形,如果在胎儿期未给予相关干预措施,部分病例在出生前心脏及大血管已经出现了不可逆病变”,从而失去了根治的机会。同时,患有严重先心病的胎儿比较容易出现宫内死亡或自发性流产。因此胎儿心脏病的治疗逐渐引起人们的重视。现对近年来胎儿先心病的治疗进展综述如下。     

胎儿先天性心脏病产前诊断与临床意义

先天性心脏病是最常见的出生缺陷之一.孕早期先天性心脏病筛查的方法主要有颈后透明层厚度测量、静脉导管血流测量以及直接进行胎儿超声心动图检查等.孕中期绝大部分的胎儿心脏病可以直接通过胎儿超声心动图检查获得诊断,除心脏解剖结构畸形外,心律失常的诊断以及心功能的评估也是重要检查内容.加强先天性心脏病的相关基因研究,也能够为产前...     

胎儿先天性心脏病的超声诊断及临床干预

随着胎儿超声心动图技术的发展,90%～95%的先天性心脏病可以在产前获得早期诊断;同时,先天性心脏病的治疗也已经发展到了产前阶段,胎儿心脏介入治疗在临床应用方面取得了一定效果,并展现了发展前景。     

妊娠早中期胎儿超声心动图诊断先天性心脏病的临床价值

胎儿超声心动图检查是先天性心脏病产前诊断的最有效方法.妊娠早中期胎儿超声心动图筛查先天性心脏病的敏感性及特异性均较高,有序的分段多切面检查是保证诊断准确性的关键.由产科医生、超声科医生、小儿心脏科医生参与的多学科合作可改善胎儿预后,指导孕妇对妊娠过程进行正确的决策,对胎儿进行必要、合理的干预,对降低新生儿出生缺陷具有重要意义.     

SNP array分析技术在胎儿先天性心脏病诊断中的价值

目的探讨单核苷酸多态性微阵列(SNP array)分析技术在先天性心脏病产前诊断中的应用价值。方法选择因胎儿CHD和/或超声软指标阳性再行产前诊断的孕妇及胎儿200例,行羊水细胞检查染色体核型和SNP array分析,分析两种技术的检出率并判断拷贝数变异的性质。结果普通染色体核型仅检出1例染色体异常,SNP array技术检出22例,其中11例为致病性拷贝数变异,11例为临床意义不明确的CNVs。结论 SNP技术可明显提高检出率,对于核型正常的先天性心脏病胎儿具有重要的应用价值。     

超声心动图在新生儿先天性心脏病筛查中的应用

目的探讨超声心动图对新生儿先天性心脏病(CHD)临床筛查的应用价值。方法对本院2010年1月-2011年12月出生的330例疑似CHD新生儿的心脏超声心动图筛查结果进行分析,应用心脏彩超对新生儿经胸行多切面扫查,了解心脏及大血管位置关系、内径比例,测量房室大小、室壁厚度、运动幅度,测量心功能。观察瓣膜厚度、活动度、房室间隔是否完整。测量瓣口血流速度,观察瓣口有无返流,心腔及大血管间是否存在分流。结果 330例新生儿中单纯卵圆孔未闭96例(29.0%),单纯PDA 45例(13.6%)。CHD 116例(35.1%),其中单纯VSD 16例(13.8%),VSD并卵圆孔未闭15例(12.9%),单纯ASD 13例(11.2%),ASD并卵圆孔未闭13例(11.2%),ASD并VSD 8例(6.9%),ASD并VSD并卵圆孔未闭7例(6.0%),ASD并PDA 17例(14.7%),法洛四联症14例(4.2%),完全性心内膜垫缺损6例(1.8%),右心室双出口3例(0.9%),大动脉转位、三尖瓣下移畸形各2例(各占0.6%)。结论新生儿期较为多见的心内分流为卵圆孔未闭,其与PDA在未来均有闭合的可能。目前绝大多数常见的CHD可通过超声检查得到确诊,可取代大部分心导管检查和心血管造影对于CHD的诊断。     

先天性心脏病胎儿脑血管阻力变化研究

目的检测患有先天性心脏病的胎儿脑血管阻力变化。方法使用脉冲多普勒超声技术对患有先天性心脏病的胎儿进行大脑中动脉（middle cerebral artery，MCA）及脐动脉（umbilical artery，UA）血流动力学指数测量。包括搏动指数（pulsatility index，PI）、阻力指数（resistance index，RI）。计算脑／脐血管阻力指数比（cerebral—to-placental resistance ratio，CPR；CPR=MCA-RI／UARI）。研究包括25例胎儿先天性心脏病病例，病例组分为组1：包括胎儿左心发育不良、主动脉狭窄、完全性大血管转位，共12例；组2：包括右心血流阻塞的病例、胎儿肺动脉狭窄、肺动脉闭锁、法洛四联症及Ebstein畸形，共13例。对照组包括100）例正常胎儿与病例组按胎龄配对。结果病例组与对照组MCA-PI、UA-PI差异无统计学意义。病例组1MCA-PI低于病例组2（P=0．026）及对照组（P=0．035）。病例组2UA-PI较病例组1升高（P=0．047）。病例组2与对照组MCA-PI，UA-PI差异无统计学意义。CPR在各病例组间两两比较，差异均无显著性意义。结论运用脉冲多普勒超声技术可检测到部分患有先天性心脏病的胎儿存在脑血管阻力降低的变化，不同类型的心脏畸形可能引起胎儿脑血管不同程度的代偿反应。     

先天性心脏病的产前超声心动图诊断

应用胎儿超声心动图方法产前诊断先天性心脏病（先心病）是近年来先心病诊断的重要进展之一。胎儿心脏的超声征像与出生后的表现不尽相同。胎儿先心病的超声诊断标准除少数病种外大致与新生儿者相似。临床报道应用胎儿超声心动图产前诊断的先心病有室间隔缺损、房室隔缺损、单心室、爱毂斯坦畸形、左心发育不良、右心发育不良、四联症及其他复杂心脏畸形，均有较高的诊断敏感度及特异性。容易遗漏或误诊的有房间隔缺损，小型室间隔缺     

Three-dimensional reconstruction of MR images in congenital heart disease

Commercially available software is now available for reconstructing three-dimensional (3D) images of hearts with congenital anomalies from standard two-dimensional (2D) tomographic slices We have used these 3-D images for 8 years to enhance anatomic diagnosis and functional evaluation pre- and postoperatively in children with congenital cardiac and great vessel diseases The advantages of 3-D imaging are reduced examination time, improved display of complex Intracranial relationships, better understanding of relationships between great vessels and adjacent major airways, and facilitated demonstration of cardiovascular anatomy for those unfamiliar with tomography images.     

Fetal echocardiography in the diagnosis of congenital heart disease

Abstract Fetal echocardiography provides an opportunity to diagnose congenital heart disease as early as the midtrimester of pregnancy, allowing for proper planning of perinatal care and counselling of the parents. This paper reviews the accuracy and outcomes of fetal cardiac ultrasound studies at The Prince Charles Hospital over the past 4 years.
A total of 43 fetuses, of gestational ages 16–39 weeks, were studied. The indications for these were: previous sibling with cardiac anomaly (16 cases); abnormal heart on obstetric ultrasound scan (USS) (13 cases); abnormalities found on obstetric USS with normal appearing heart (one case); fetal bradycardia (seven cases); fetal tachycardia (four cases); irregular fetal heart beat (two cases).
At birth all fetuses assessed because of a previously affected sibling were normal. Of the 13 referred because of structural heart lesions suspected on obstetric USS, eight were abnormal, four were normal and one was terminated without autopsy. Important rhythm disturbances occurred in nine of the 11 referred because of abnormal heart rates. One false positive diagnosis of a possible coarctation was made, and in four cases an abnormality was noted on USS but the diagnosis was not completely correct. Nine of the 19 infants with abnormalities detected have died.
Fetal echocardiography is an accurate and useful method of diagnosing congenital heart disease in utero . Although the mortality of affected fetuses is high, antenatal diagnosis allows planning of medical care and offers the greatest chance of a successful outcome.     

复杂性先天性心脏病的超声诊断

超声心动图诊断复杂性先天性心脏病应采用顺序节段分析法,按照心房、心室和大动脉等三个节段进行检测,以及分析心房-心室连接和心室-大动脉连接,才能对复杂性先心病作出全面的诊断.     

胎儿先天性心脏病产前诊断与生后治疗一体化模式的探讨

目的 探讨胎儿先天性心脏病产前诊断与生后治疗一体化模式.方法 2006年8月至2010 年5月共有46位孕妇在我院产前诊断出胎儿先心病并选择继续妊娠.在我院产科自然分娩或剖腹产,胎儿出生后24 h内复查心脏超声,连续监测经皮血氧饱和度,由小儿心内科、小儿心外科、新生儿科联合制定治疗和随访方案.结果 孕妇剖腹产36例,自然分娩10例;共分娩活产新生儿47例,男40例,女7例;平均胎龄(38.0±1.4)孕周,平均体重(3.00±0.44) kg;产前和生后主要心脏畸形诊断相符.10例动脉导管依赖型复杂先心病患儿新生儿期静脉滴注前列腺素E.23例接受外科手术治疗,其中15例于新生儿期手术.7例行内科介入治疗,4例经皮肺动脉瓣成形术,3例行房间隔或室间隔缺损封堵术.16例随访患儿中2例室间隔缺损自然愈合,7例房间隔缺损和5例室间隔缺损等待择期治疗,2例随访丢失.30例已治疗的患儿中21例心脏结构恢复正常,7例心脏瓣膜存在轻微改变,术后死亡2例(病死率6.7％).结论 产前诊断与生后治疗一体化模式符合先天性心脏病诊治的发展趋势,需要多科室合作,才能及早发现胎儿心脏畸形,预测胎儿出生后的变化,消除复杂先心病出生后的急危重状态,提高生后治疗的成功率.     

复杂性先天性心脏病影像学诊断的临床应用

随着影像学技术的不断发展,先天性心脏病,尤其是复杂性先天心脏畸形的早期诊断方法有了更多选择。目前广泛用于先天性心脏病心影像学诊断的检查主要包括超声心动图、CT、MRI、心导管检查以及产前超声检查等。临床医生应该根据患者不同情况选择合适的检查手段,该文将对近年来几种影像检查在临床上如何选择应用做一综述。     

Developmental status of young infants with congenital heart disease

BACKGROUND: Developmental status of young infants with congenital heart disease (CHD) is associated with physical and psychosocial factors. With the aim of obtaining basic data to perform developmental support, the study was conducted to examine the development and associated factors among these infants. METHODS: The Japanese Denver Developmental Screening Test was performed in 75 infants at 3-5 months of age, and a questionnaire was sent to their mothers about recognition of their child's development. Infants with and without developmental delay were compared using the characteristics of diagnosis of heart disease, symptoms and surgery, the state of growth of infants, and recognition of a child's development by its mother. To specify more adequate factors, a multiple logistic regression analysis was conducted. RESULTS: Of 75 infants, 14 (18.7%) had developmental delay. Weight gain of standard weight-2SD, Kaup index, and recognition of a child's development by mothers were associated with delayed development. In particular, infants gaining weight at <10 g/day were significantly more delayed than those gaining weight at >20 g/day. In addition, infants whose mothers recognized developmental delay were significantly delayed compared to those not recognized. CONCLUSIONS: Developmental status of young infants with CHD was found to be strongly associated with growth. In particular, weight gain <10 g/day appeared to be the critical point for delayed development, as well as mothers' recognition of their child's development.     

Hyperuricaemia in cyanotic congenital heart disease

This study examines the exacerbating factors of hyeruricaemia in patients with cyanotic congenital heart disease (CCHD). We studied 59 CCHD patients aged 1 month-30 years. The following variables were assessed: serum uric acid levels, red blood cell count, haemoglobin, hematocrit, partial oxygen pressure and arterial oxygen saturation. Uric acid excretion and renal function were also measured in ten patients with serum levels of uric acid greater than 8 mg/dl (hyperuricaemia group). Serum uric acid level correlated significantly with age and severity of polycythaemia. However, it did not correlate with partial oxygen pressure or arterial oxygen saturation. Uric acid excretion was measured in hyperuricaemia group. Urinary uric acid excretion (24 h) was within normal limits in infants but markedly lower in patients over 15 years of age. The aetiology of hyperuricaemia and decreased uric acid fractional excretion and clearance in infants appears to be secondary to diminished excretion of uric acid in concert with uric acid overproduction. Hyperuricaemia in adolescents and adults with CCHD, however, results mainly from age-related impairment of uric acid excretion.     

Fetal and post-natal diagnosis of major congenital heart disease: implications for medical and psychological care in the current era

Aim: The fetal or post‐natal diagnosis of major congenital cardiac abnormality has important medical and psychological consequences. Methods: We reviewed infants who underwent cardiac surgery in the first year of life at the Heart Centre for Children, The Children's Hospital at Westmead during 2009. The aims of this study were to: (i) examine the key features of cardiac diagnosis and clinical outcome, and (ii) consider how these data can inform priorities for the delivery of clinical services. Results: Over the 12‐month study period, a first cardiac surgical procedure was performed on 195 infants, with 85 infants (44%) diagnosed in the antenatal period. Of the total sample, a subset of 90 babies (46%) underwent their first procedure in the neonatal period, with 62% having had a fetal diagnosis. Major intracardiac lesions including truncus arteriosus (100%), single ventricular lesions (83%), pulmonary atresia with ventricular septal defect (78%) and transposition of the great arteries (53%) were diagnosed prior to birth. Improved haemodynamic stability at initial presentation was found in those with a fetal diagnosis. The overall mortality rate for all patients was 6.1% at 12 months, with a higher mortality in infants with single ventricle. Conclusions: The contemporary paradigm of care for infants with major congenital heart disease requires a multidisciplinary approach to care, with improvements in clinician–clinician and clinician–family communication, and psychological support and education for families. Changes in the allocation of resources are required to meet this model of best practice.     

Psychiatric morbidity in adolescents operated in childhood for congenital cyanotic heart disease

AIM: The aim of the present study was to assess psychiatric morbidity of adolescents operated in childhood for congenital cyanotic heart disease (CCHD) and their parents. METHODS: Participants were 31 adolescents (19 boys, 12 girls) aged 10-21 (mean +/- SD, 14.7 +/- 0.3) years, who had undergone cardiac surgery 13.7 +/- 2.48 years before the study assessment period. Twenty-two mothers and nine fathers participated in the study. Assessment tools for adolescents included: the UCLA Post Traumatic Stress Disorder-Reaction Index, The Screen for Child Anxiety Related Emotional Disorders, and The Beck Depression Inventory; for the parents: The Posttraumatic Stress Diagnostic Scale, The Spielberger State Trait Anxiety Inventory, and The Beck Depression Inventory. RESULTS: Nine out of 31 adolescents (29.03%) were defined as 'full post-traumatic stress disorder (PTSD) likely' with a total post-traumatic stress symptom (PTSS) score significantly higher than that of the non-PTSS subgroup (P < 0.001). A non-significant trend was noted for more adolescents with 'anxiety disorder likely' (P = 0.096, NS) in the PTSS versus the non-PTSS subgroups. A non-significant trend was detected showing that on all symptom domains of PTSD, as well as on anxiety and depressive measures, parents of children with PTSS received higher scores than parents of children without PTSS (P = 0.095, 0.03, 0.04, respectively, NS). CONCLUSION: Children undergoing cardiac surgery for CCHD may be at a high risk for long-term PTSS.     

Adult congenital heart disease: Past,present and future

The diagnosis and management of congenital heart disease (CHD), the most common inborn defect, has been a tremendous success story of modern medicine. In the 1950s, survival of children born with CHD was only approximately 15%, whereas nowadays more than 90% of these children survive well into 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 with CHD over 60 years old. Many adult patients are afflicted by residual haemodynamic lesions and also face additional opportunities and/or challenges such as pregnancy, acquired heart disease, non‐cardiac pathology etc., necessitating integrated care and all medical disciplines. We are faced with a “tsunami” in terms of adult CHD numbers, disease heterogeneity and complexity of work and interventions needed. We need to secure resources, welcome more people in our field, learn from “marching with our patients”, and educate better patients, public and ourselves so that every single patient with CHD, born anywhere in the world, may reach their full life potential.