Noncompaction Cardiomyopathy in Children With Congenital Heart Disease: Evaluation Using Cardiovascular Magnetic Resonance Imaging

Noncompaction of the left ventricle, a genetic cardiomyopathy with a reported incidence of 0.05% to 0.24%, can lead to sudden cardiac death, particularly among children, if left undetected. Because the diagnosis of isolated noncompaction cardiomyopathy (NCM) can be overlooked, its association with other congenital heart diseases (CHDs) makes the diagnosis of NCM even more difficult. This study aimed to assess the impact of NCM on the cardiovascular physiology of children with coexisting CHDs evaluated by cardiovascular magnetic resonance imaging. A case-control study was performed with 12 children (6 patients with combined NCM and CHD and 6 control subjects with isolated CHD). The mean left ventricular end-diastolic and end-systolic volume indices were significantly higher in the CHD patients presenting with NCM than in the CHD patients with no NCM (P = 0.028). However, no differences were observed for right ventricular end-diastolic and end-systolic volume indices, biventricular ejection fractions, stroke volumes and indices, left ventricular wall thickness, left ventricular fractional shortening, cardiac output, or cardiac index. This study suggests that NCM in children with CHDs increases left ventricular volumes, and larger studies are required to demonstrate other changes (e.g., ejection fraction, stroke volume) that were close to being significant.     

Left-Ventricular Noncompaction in an Infant With Trisomy 21

Left-ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy of emerging importance. It is known to occur in association with genetic syndromes. We report here for the first time an infant with LVNC in association with trisomy 21.     

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。     

Parvovirus-Mediated Fetal Cardiomyopathy With Atrioventricular Nodal Disease

Acute parvovirus B19 infection (API) in pregnancy has been associated with fetal anemia and hydrops fetalis. Direct myocardial damage from API in a fetus and an infant has been described. This report presents a case of fetal second-degree heart block and cardiomyopathy secondary to API. A 19-year-old G4P1112 (gravida 4 para 2 with 1 term delivery, 1 preterm delivery, 1 termination, and 2 living children) was referred at 20 weeks gestation for fetal bradycardia. A 2:1 atrioventricular block was identified by fetal echocardiography at 23 weeks. Hydrops developed at 25 weeks. Amniocentesis and percutaneous umbilical blood sampling demonstrated API. At 31 weeks, the patient presented with preterm labor and delivered a viable female infant, who died of poor cardiac function and arrhythmia on the first day of life. In addition to fetal anemia and hydrops fetalis, API in pregnancy may cause direct fetal myocardial damage and conduction system disease.     

Fetal Interventions for Congenital Heart Disease in Brazil

Fetal interventions have been performed for some congenital heart diseases. However, these procedures have not gained wide acceptance due to concerns about their efficacy and safety. The aim of this study was to report on a preliminary experience with fetal cardiac interventions in Brazil. Twenty-two cardiac interventions were performed in 21 fetuses. Thirteen fetuses had critical aortic stenosis (CAS), 4 had hypoplastic left heart syndrome (HLHS) and intact interatrial septum or small patent foramen ovale, 1 had pulmonary atresia with intact ventricular septum (IVS), and 3 had critical pulmonary stenosis (CPS). The main outcome variables evaluated were technical success and procedural complications as well as pregnancy and postnatal outcomes. Success was achieved in 20 of 22 procedures (91 %) with 1 failed aortic and 1 failed pulmonary valvuloplasties. There was 1 fetal death. No maternal complications occurred. One patient with CAS, severe mitral regurgitation, and hydrops died postnatally within 5 months of age. All patients with HLHS and restrictive atrial septum died after interventional or surgical procedures and prolonged hospitalizations. All patients with CPS/IVS survived and achieved a biventricular (BV) circulation after neonatal valvuloplasty and ductal stenting. A BV circulation was achieved in 4 of 8 patients with CAS and evolving HLHS (one still in utero), including 2 with initial borderline left ventricles (LV) in whom surgical LV overhaul was performed at 9 months of age. In this preliminary experience, the feasibility of fetal cardiac interventions and their outcomes were similar to those previously reported.     

先天性心脏病伴心内膜弹力纤维增生症和心肌致密化不全6例

目的探讨小儿先天性心脏病(CHD)伴心内膜弹力纤维增生症(EFE)和心肌致密化不全(NVM)的临床表现、诊断及治疗效果,以提高对该病的认识和诊疗水平。方法对2005年5月-2008年1月本院收治的6例CHD伴EFE和NVM患儿的临床表现、胸片、心电图、超声心动图及临床治疗情况进行分析。CHD伴EFE和NVM的诊断依据超声心动图表现,治疗方案以CHD及EFE的治疗方案为主。结果3例行手术治疗[行动脉导管未闭(PDA)结扎术1例,主动脉弓成形术2例(其中1例同时行PDA结扎术)]。5例(包括手术治疗的3例)在心功能不全和心律失常控制且稳定后好转出院;1例心力衰竭严重者自动出院。结论超声心动图对CHD伴EFE和NVM的诊断和鉴别诊断有重要价值;可通过手术治疗、强心、利尿、降低心脏前后负荷及免疫抑制治疗使该类疾病临床症状得到缓解。     

Outcomes of Aortopexy for Patients With Congenital Heart Disease

Aortopexy is a surgical procedure in which the aortic arch is fixed at other structures, thus widening the interaortic space. This study aimed to evaluate the outcome of aortopexy by means of chest computed tomography for patients with congenital heart disease. The study retrospectively reviewed the medical records of 16 patients with congenital heart disease who had undergone aortopexy by compressed airway. The severity of compressed bronchus before aortopexy, immediately after aortopexy (≤1 month), and after the patient had grown up were compared. To estimate the efficacy of the aortopexy, the interaortic distance index was calculated. Of the 16 patients, aortopexy was performed at the ascending aorta in 7, at the descending aorta in 7, and at the transverse arch in 2. The diameter ratio between the narrowest bronchus and the trachea was improved after aortopexy, as was the diameter ratio before aortopexy versus immediately after aortopexy (n = 9; p = 0.018) and the diameter ratio before aortopexy versus after the patient had grown up (n = 11; p = 0.006). Also, the interaortic distance index was increased after aortopexy, as was the diameter before aortopexy versus immediately after aortopexy (n = 9; p = 0.039) and the diameter before aortopexy versus after the patient had grown up (n = 11; p = 0.014). The study had one case of mortality due to sepsis. As shown by the results, aortopexy in patients with a compressed airway between arches is a useful surgical option. Such a compressed airway between arches should be considered for patients with an unusual clinical course before and after open heart surgery.     

Prenatal Diagnosis of Congenital Heart Disease and Birth Outcomes

This study was undertaken to examine the impact that prenatal diagnosis of congenital heart disease (CHD) has on birth and early neonatal outcomes. The prevalence of prenatally diagnosed CHD has risen over the past decade, but the effect that prenatal diagnosis of CHD has on peripartum decisions remains unclear. No consensus exists on the effect of prenatal diagnosis on neonatal outcomes. Between January 2004 and July 2009, a retrospective chart review of all neonates with CHD admitted to our institution’s neonatal intensive care unit was conducted. Obstetric and postnatal variables were collected. Among the 993 subjects, 678 (68.3 %) had a prenatal diagnosis. A prenatal diagnosis increased the odds of a scheduled delivery [odds ratio (OR) 4.1, 95 % confidence interval (CI) 3.0–5.6] and induction of labor (OR 11.5, 95 % CI 6.6–20.1). Prenatal diagnosis was not significantly associated with cesarean delivery when control was used for maternal age, multiple gestation, and presence of extracardiac anomaly. Mean gestational age had no impact on prenatal diagnosis, but prenatal diagnosis was associated with increased odds of delivery before a gestational age of 39 weeks (OR 1.5, 95 % CI 1.1–1.9) and decreased odds of preoperative intubation (OR 0.5, 95 % CI 0.3–0.6). Prenatal diagnosis did not have an impact on preoperative or predischarge mortality. Prenatal diagnosis was associated with increased odds of a scheduled delivery, birth before a gestational age of 39 weeks, and a decreased need for invasive respiratory support. Prenatal diagnosis of CHD was not associated with preoperative or predischarge mortality.     

Left-Ventricular Noncompaction in a Pediatric Population: Predictors of Survival

Left-ventricular noncompaction (LVNC) is an echocardiographic finding of increasing frequency in pediatrics; however, predictors of outcomes have been difficult to identify. We conducted a retrospective review of pediatric patients at the Morgan Stanley Children's Hospital of New York from January of 1993 to September of 2009 to identify predictors of the primary outcome of death or heart transplantation. LVNC was identified in 50 patients, 34 of them < 1 year of age. Death or transplantation occurred in 26 patients, with a median survival of 1.17 years after presentation. Patients surviving 1 year after presentation had 75% conditional survival, and patients surviving 2 years after presentation had 92% conditional survival. Hemodynamic instability, poor ventricular function, and LV dilatation were each independent predictors of poor outcome. Of the 21 patients who presented with hemodynamic instability, 17 died or underwent transplantation at a median of 0.08 years after presentation. In conclusion, LVNC is recognized more in younger patients; however, age is not a predictor of outcome. Patients who present with hemodynamic instability and poor ventricular function have decreased transplant-free survival, and most poor outcomes occur within the first year after presentation. Therefore, early listing for transplant may lead to better outcomes in this population.     

Multi-Tiered Analysis of Brain Injury in Neonates With Congenital Heart Disease

Early brain injury occurs in newborns with congenital heart disease (CHD) placing them at risk for impaired neurodevelopmental outcomes. Predictors for preoperative brain injury have not been well described in CHD newborns. This study aimed to analyze, retrospectively, brain magnetic resonance imaging (MRI) in a heterogeneous group of newborns who had CHD surgery during the first month of life using a detailed qualitative CHD MRI Injury Score, quantitative imaging assessments (regional apparent diffusion coefficient [ADC] values and brain volumes), and clinical characteristics. Seventy-three newborns who had CHD surgery at 8 ± 5 (mean ± SD) days of life and preoperative brain MRI were included; 38 also had postoperative MRI. Thirty-four (34 of 73, 47 %) had at least one type of preoperative brain injury, and 28 of 38 (74 %) had postoperative brain injury. The 5-min APGAR score was negatively associated with preoperative injury, but there was no difference between CHD types. Infants with intraparenchymal hemorrhage, deep gray matter injury, and/or watershed infarcts had the highest CHD MRI Injury Scores. ADC values and brain volumes were not different in infants with different CHD types or in those with and without brain injury. In a mixed group of CHD newborns, brain injury was found preoperatively on MRI in almost 50 %, and there were no significant baseline characteristic differences to predict this early brain injury except 5-min APGAR score. We conclude that all infants, regardless of CHD type, who require early surgery should be evaluated with MRI because they are all at high risk for brain injury.     

Noncompaction Cardiomyopathy in a Neonate Presenting With Hydrops Fetalis and Pulmonary Hypertension

Noncompaction cardiomyopathy (NCCM) is a recently recognized form of cardiomyopathy with a variable clinical presentation. This report describes NCCM of a newborn presenting with hydrops fetalis and pulmonary hypertension. To date, this has not been described in the literature. As knowledge of this condition grows, the need to recognize NCCM becomes more important.     

磁共振成像诊断先天性心脏病的研究

磁共振成像（MRI）技术的快速发展,为评价先天性心脏病提供了一种崭新的无创手段。心电门控技术、快速成像技术以及磁共振血管成像等新技术的出现,使MRI能够准确地诊断先天性心脏病的形态学异常,包括心脏大血管位置及连接关系、心内结构异常、肺血管和主动脉畸形等;相位编码技术以及电影成像的应用,使MRI可以进行血流动力学评价,包括血液流速、压力阶差、血流分布比例以及瓣膜反流情况等。该文就MRI对先天性心脏病的形态学诊断以及相关的血流动力学检测两方面进行综述。     

The Impact of Change in Volume and Left-Ventricular Hypertrophy on Left-Ventricular Mechanical Dyssynchrony in Children With End-Stage Renal Disease

Left-ventricular dyssynchrony (LVD) adversely affects systolic performance and has not been previously evaluated in children with end-stage renal disease (ESRD). We hypothesized (1) that LVD in children with ESRD would be significantly increased compared with controls and (2) that volume load and left-ventricular hypertrophy (LVH) would be associated with increased LVD. This was a prospective observational study in which real-time three-dimensional echocardiographic data were acquired in 27 stable children with ESRD (13 peritoneal dialysis [PD] and 14 hemodialysis [HD]) and 29 normal controls. Data were acquired before and after an HD session. Dyssynchrony index (SDI) was defined per standard formulae and was normalized to cardiac cycle duration (SDIp). Left-ventricular mass (LVM) was obtained from M-mode echocardiography and was normalized to height(2.7) (LVM index). The mean age (13.8 vs. 11.3?years) and SDI, SDIp, LVM, and LVM index were significantly greater among children with ESRD than among controls (p?相似文献