胎儿心室发育不良的产前超声心动图诊断价值

目的　探讨产前超声心动图对胎儿心室发育不良的诊断价值。方法　回顾性分析我院 2 6 4 8例行中孕超声筛查和高度怀疑胎儿心脏畸形的晚孕孕妇。首先确定胎儿心脏的位置及心轴 ,然后心脏三节段分析法进行分析。二维超声显示四腔心、左室流出道、右室流出道、心底短轴、主动脉弓、动脉导管弓及三血管切面 ,重点观察二尖瓣、三尖瓣、主动脉瓣和肺动脉瓣的启闭情况 ,再用多普勒超声和 M-型超声观察胎儿心脏各瓣膜的血流情况。结果　 2 6 4 8例行常规超声筛查孕妇中检出先天性心脏畸形 2 1例 ,其中心室发育不良 6例 (3例左心发育不良综合征和 3例右心发育不良 )。 6例心室发育不良均已引产并有 3例尸检 ,尸检结论与超声完全一致。结论　产前超声心动图对检出胎儿心室发育不良及其分型具有极重要的价值。二维超声心动图是根本 ,而多普勒超声和 M-型超声心动图也不可或缺。     

超声检测卵圆孔径在评估胎儿心室发育不良中的临床意义

目的 探讨超声检测卵圆孔径(foramen ovale diameter,FOD)在评估胎儿心室发育不良中的临床意义.方法 应用彩色多普勒超声诊断系统检测430例正常胎儿和12例心室发育不良胎儿的FOD,进行统计学分析比较,并与尸体解剖或产后追踪结果 对照.结果正常胎儿FOD随胎龄增长而逐渐增大,具有良好的显性线形相关性(r=0.936,P<0.001);8例左心发育不良综合征胎儿的FOD均小于同胎龄组正常参考值下限;4例右心发育不良胎儿的FOD均大于同胎龄组正常参考值上限.结论 超声检测胎儿FOD方法简单且易掌握,能够为心室发育不良胎儿的循环生理变化提供有用信息,可作为早期评估胎儿心室发育不良的一项筛查指标.     

Ventricular Tachycardia in Non‐Compaction of Left Ventricle: Is This a Frequent Complication?

BACKGROUND: Isolated left ventricular non-compaction is the result of incomplete myocardial morphogenesis, leading to persistence of the embryonic myocardium. The condition is recognized by an excessively prominent trabecular meshwork and deep intertrabecular recesses of the left ventricle. Whether these intertrabecular recesses are a favorable substrate for ventricular arrhythmias is unclear. Some reports have found that the fatal ventricular arrhythmias may occur in approximately half of the patients. In this report we investigated about this association. METHODS AND RESULTS: In total we evaluated a continuous series of 238 patients affected by non-compaction. Periodic Holter monitoring was performed every 6 months for 4 years. Only 11 patients had documented ventricular tachycardia, which was sustained in two cases and non-sustained in nine. In no cases we observed ventricular fibrillation. CONCLUSIONS: Non-compaction alone does not seem to be a risk factor for malignant ventricular arrhythmias.     

Congenital diaphragmatic hernia: antenatal prognostic factors

Despite regular progress in neonatal intensive care, congenital diaphragmatic hernia (CDH) diagnosed antenatally is still associated with up to 80 % mortality. It is impossible to predict which fetus with CDH will survive or not. Objective: To identify reliable antenatal predictors of outcome and of pulmonary hypoplasia (PH) in fetuses with CDH. Design: Retrospective study. Setting: Paediatric intensive care unit of a university children's hospital. Patients and methods: Antenatal parameters and presence of left ventricular hypoplasia in utero were compared retrospectively to outcome and to presence of PH in 32 consecutive newborn infants with antenatally diagnosed CDH. Antenatal parameters included: gestational age at diagnosis, herniated organs, associated malformations and presence of polyhydramnios. Size of the cardiac ventricles, the aorta (Ao) and the pulmonary artery (PA) were obtained by fetal echocardiography, from which we calculated a cardioventricular index (left ventricle/right ventricle, LV/RV) and a cardiovascular index (Ao/PA). Delivery was planned in order to provide ventilatory and hemodynamic management. In case of death, PH was assessed according to the following criteria: the lung weight/body weight index and the radial alveolar count. For statistical comparisons, patients were separated into two groups: the hypoplasia group (H) and the non-hypoplasia group (NH). Results: Thirty-two pregnancies were delivered. Twenty-six newborns died (81 %), 6 survived (19 %). When comparing non-survivors to survivors, predictors of poor outcome were: mean gestational age at diagnosis (23 vs 28 weeks, p = 0.002), intrathoracic stomach (20 vs 1 s, p = 0.01) and associated malformations (6 vs 0). Cardiac ventricular disproportion, expressed by the LV/RV ratio, appeared to correlate well with a poor outcome (0.63 in non-survivors vs 0.93 in survivors, p = 0.03) and with PH (0.63 in the H group vs 0.95 in the NH group, p = 0.03). Conclusions: Our study confirmed the factors for a poor prognosis associated with CDH previously described in the literature, but none with a consistent demonstration of accuracy. LV hypoplasia may be a more accurate predictor of outcome and of PH but it has to be assessed by prospective studies with larger samples. Further basic science and Doppler-flow studies may be helpful to understand the natural history and pathophysiology of LV hypoplasia in CDH. Received: 4 November 1996 Accepted: 9 July 1997     

胎儿三血管气管平面在胎儿心室发育不良诊断中的价值

目的探讨胎儿三血管气管平面(3V T切面)在胎儿心室发育不良诊断中的价值.方法回顾性分析2003年4月-2005年1月在我院产前诊断门诊接受产前胎儿心脏超声筛查孕妇1212例,年龄20～44岁,孕周为16～38周.取胎儿心脏检查的常规6个标准切面,然后在四腔心切面的基础上缓慢平行向胎儿头侧移动探头即可显示胎儿上纵隔横切面,即三血管气管平面,再叠加彩色多普勒血流显像,观察各房室及大动脉血流分布和血流方向.结果 1212例胎儿超声心动图均获得满意的3V T切面,共检出胎儿心脏结构异常47例,其中心室发育不良11例(8例左心发育不良综合征和3例右心发育不良),年龄23～42岁,平均(29.8±5.7)岁,孕周20～39周,平均(26.7±5.6)周.10例心室发育不良均已引产并有5例尸检,尸检结论与超声检查完全一致,1例胎死宫内.结论胎儿3V T切面是一个简单、可靠的胎儿心脏大血管的筛查方法,能提高我们对涉及大动脉异常胎儿先心病的理解,是诊断胎儿心室发育不良的又一个重要切面.     

Is Right Ventricular Outflow Tract Pacing an Alternative to Left Ventricular/Biventricular Pacing?

The right ventricular apex has been used as the traditional pacing site since the development of transvenous pacing in 1959. Some studies suggest that pacing the right ventricular apex may cause remodeling and is harmful. In the past decade, there have been a multitude of studies of the hemodynamic, electrophysiological, electrocardiographic, and clinical effects of ventricular pacing at other sites. Pacing of the left ventricle singly or with biventricular pacing has emerged as an effective and safe therapy for moderate to severe congestive heart failure in patients with prolonged QRS complexes. Studies of alternate right ventricular sites, like the right ventricular outflow tract, have given mixed results. Not all patients can be treated with left ventricular pacing, which is a time-consuming and difficult procedure. Right ventricular pacing is easier and less expensive than left ventricular pacing and further study of additional right ventricular sites seems warranted. (PACE 2004; 27[Pt. II]:871–877)     

Long‐Term Effects of Upgrading to Biventricular Pacing: Differences with Cardiac Resynchronization Therapy as Primary Indication

Background: Few studies have assessed the long‐term effects of cardiac resynchronization therapy (CRT) in patients with advanced heart failure (HF) and previously right ventricular apical pacing (RVAP). Aims: To assess the clinical and hemodynamic impact of upgrading to biventricular pacing in patients with severe HF and permanent RVAP in comparison with patients who had CRT implantation as initial therapy. Methods and Results: Thirty‐nine patients with RVAP, advanced HF (New York Heart Association [NYHA] III–IV), and severe depression of left ventricular ejection fraction (LVEF) were upgraded to biventricular pacing (group A). Mean duration of RVAP before upgrading was 41.8 ± 13.3 months. Clinical and echocardiographic results were compared to those obtained in a group of 43 patients with left bundle branch block and similar clinical characteristics undergoing “primary” CRT (group B). Mean follow‐up was 35 ± 10 months in patients of group A and 38 ± 12 months in group B. NYHA class significantly improved in groups A and B. LVEF increased from 0.23 ± 0.07 to 0.36 ± 0.09 (P < 0.001) and from 0.26 ± 0.02 to 0.34 ± 0.10 (P < 0.001), respectively. Hospitalizations were reduced by 81% and 77% (P < 0.001). Similar improvements in echocardiographic signs of ventricular desynchronization were also observed. Conclusion: Patients upgraded to CRT exhibit long‐term clinical and hemodynamic benefits that are similar to those observed in patients treated with CRT as initial strategy. (PACE 2010; 841–849)     

Epicardial ablation of ventricular tachycardia associated with isolated ventricular noncompaction

A 52-year-old man presented with sudden onset of palpitations and dizziness. Echocardiogram confirmed the diagnosis of isolated noncompaction of ventricular myocardium with moderated systolic dysfunction, and the electrocardiogram (ECG) revealed ventricular tachycardia (VT), of which the focus seemed to match an area of prominent left ventricular noncompaction on the 12-lead surface ECG. Through the activation mapping from the endo- and epicardium, simultaneously, a discrete potential preceding the QRS during VT was observed at the anterolateral epicardial wall. He subsequently underwent radiofrequency ablation, and VT was successfully eliminated.     

右室流入道起搏治疗缓慢性心律失常44例临床研究

目的采用右室流入道和传统的右室心尖部起搏两种不同的方法治疗缓慢性心律失常,观察起搏参数、并发症、心电图QRS时限和心功能的变化。方法随机将86例患者分为右室流入道起搏组44例,右室心尖部起搏组42例,分别观察两组起搏器植入时、起搏3和6个月时的起搏参数、并发症、心电图QRS时限和心功能的变化。结果两组不同时期起搏参数、并发症比较,差异无统计学意义;而右室流入道起搏组心电图QRS时限明显短于右室心尖部,心功能改善也显著优于右室心尖部,差异有统计学意义,且心功能改善随起搏时间延长呈逐步好转趋势,而心电图QRS时限不同时期时限较固定。结论采用右室流入道起搏治疗,其心功能改善明显优于传统的右室心尖部起搏,值得在临床上推广。     

Pacing site in pacemaker dependency: is right ventricular septal lead position the answer?

The right ventricular apex has been the traditional site for lead placement in patients with atrioventricular block. Pacing at the right ventricular apex may have long-term deleterious effects on left ventricular (LV) function, promoting heart failure and increasing mortality. Pacing at the right ventricular septum has been proposed to minimize deterioration in LV function. Although experimental data suggest that septal pacing protects LV function, clinical studies have provided conflicting results. A recent large study in patients with heart block did not show a protective effect with septal pacing. Other pacing approaches are becoming increasingly relevant; however, prediction of what method should be employed in which patient is not currently possible. Other factors such as baseline LV function and associated co-morbidities impact LV function, irrespective of pacing site. Continued monitoring of cardiac function post-implant is therefore critical to ongoing care. An algorithm for managing patients with atrioventricular block is proposed.     

Evaluating the efficiency of using second-trimester nasal bone hypoplasia as a single or a combined marker for fetal aneuploidy.

OBJECTIVE: Although second-trimester nasal bone (NB) hypoplasia has been associated with fetal aneuploidy, its role as a single marker is still uncertain. Our objective was to evaluate the efficiency of NB hypoplasia as an independent marker for fetal aneuploidy. METHODS: This was a prospective cohort study of women undergoing an anatomic survey between 16 and 22 weeks' gestation. The fetal NB and other markers of fetal aneuploidy, including nuchal fold, femur and humeral lengths, choroid plexus cysts, major fetal anomalies, echogenic bowel, pyelectasis, and hypoplastic fifth digits, were evaluated. Nasal bone hypoplasia was defined either as an absent NB or by a ratio of the biparietal diameter to NB. Fetuses or infants with fetal aneuploidy were compared with those without for the presence of NB hypoplasia either as a single marker or in the presence of other markers for aneuploidy. RESULTS: Of 2885 women evaluated, NB measurements were obtained in 2465 (85%). There were 35 (1.4%) cases with fetal aneuploidy. The sensitivity and specificity of a single NB in detecting Down syndrome varied from 23% to 64% and 57% to 99%, respectively, depending on the definition of NB hypoplasia used. There was an improvement in the efficiency of using the NB when combined with other markers, with sensitivity and specificity increasing from 59% to 82% and 74% to 87%, respectively. CONCLUSIONS: Nasal bone hypoplasia is a marker for fetal aneuploidy. The combination of the NB with other makers was associated with an improvement in detection of fetal aneuploidy.     

胎儿单侧小脑发育不全的产前超声诊断

目的探讨胎儿单侧小脑发育不全（UCH）产前超声声像图特征。 方法总结2018年1月至2019年12月于南方医科大学附属深圳妇幼保健院,在胎儿系统超声检查中诊断为UCH的6例胎儿的产前超声声像图表现,与MRI、引产后超声及病理解剖结果进行对比,并结合产前诊断该疾病的相关文献对UCH胎儿产前超声诊断特点及临床预后进行分析。 结果6例UCH胎儿产前超声声像图典型表现：两侧小脑半球不对称和（或）小脑横径减小,伴或不伴蚓部异常,发育不全侧小脑减小,形态失常,其中3例受累侧小脑半球边界不规则,对侧小脑形态及大小均正常。临床预后：6例胎儿中1例活产,随访至1岁,未出现神经症状。结合本研究6例UCH胎儿及文献报道的36例胎儿产前和产后检查结果分析均显示：单纯UCH胎儿、不合并颅内异常的UCH胎儿以及无产前生长受限、早产等不良孕产史的UCH胎儿短期预后均好于合并颅内异常的UCH胎儿。 结论UCH有特征性产前超声表现,产前超声发现小脑半球不对称,一侧小脑减小、形态失常时可作出诊断,诊断不明确时可结合MRI进行鉴别诊断。     

Effect of pacing-induced ventricular dyssynchrony on right ventricular function

Background: Asynchronous electrical activation induced by right ventricular (RV) pacing can cause several abnormalities in left ventricular (LV) function. However, the effect of ventricular pacing on RV function has not been well established. We evaluated RV function in patients undergoing long‐term RV pacing. Methods: Eighty‐five patients and 24 healthy controls were included. After pacemaker implantation, conventional echocardiography and strain imaging were used to analyze RV function. Strain imaging measurements included peak systolic strain and strain rate. LV function and ventricular dyssynchrony by tissue Doppler imaging (TDI) were assessed. Intra‐ and interobserver variabilities of TDI parameters were tested on 15 randomly selected cases. Results: All patients were in New York Heart Association functional class I or II and percentage of ventricular pacing was 96 ± 4%. RV apical induced interventricular dyssynchrony in 49 patients (60%). LV dyssynchrony was found in 51 patients (60%), when the parameter examined was the standard deviation of the time to peak myocardial systolic velocity of all 12 segments greater than 34 ms. Likewise, septal‐to‐lateral delay ≥65 ms was found in 31 patients (36%). All echocardiographic indexes of RV function were similar between patients and controls (strain: ?22.8 ± 5.8% vs ?22.1 ± 5.6%, P = 0.630; strain rate: ?1.47 ± 0.91 s^?1 vs ?1.42 ± 0.39 s^?1, P = 0.702). Intra‐ and interobserver variability for RV strain was 3.1% and 5.3%, and strain rate was 1.3% and 2.1%, respectively. Conclusions: In patients with standard pacing indications, RV apical pacing did not seem to affect RV systolic function, despite induction of electromechanical dyssynchrony. (PACE 2011; 34:155–162)     

Repetitive Ventricular Responses Induced by Radiofrequency Ablation for Idiopathic Ventricular Tachycardia Originating from the Outflow Tract of the Right Ventricle

In 23 consecutive patients, radiofrequency (RF) ablation was used as treatment for idiopathic ventricular tachycardia (VT) originating from the outflow tract of the right ventricle. In this study, we focused on the repetitive ventricular response (> 5 consecutive QRS beats during RF application). The incidence and clinical implications of the repetitive ventricular response were examined through the results of endocardial mapping and RF ablation. VT origin was mapped as the earliest activation site during VT, and it was determined within 0.5 × 0.5 cm (narrow site) in 13 patients and wider than 0.5 × 0.5 cm (wide origin) in the other 10 patients. The repetitive ventricular response was induced during application of RF current in 14 of 23 patients (61%), and it was more frequently observed in VT from a wide origin (100%) than in the VT from a narrow site (31%). The QRS morphology of the repetitive ventricular response was identical to that of clinical VT. As RF application was continued and/or repeated, the RR interval of the repetitive ventricular response was gradually prolonged, the number of consecutive QRS complexes was decreased, and clinical VT was finally eliminated. The overall success rate of RF ablation was 96% (22/23 patients), and no complications were observed. In conclusion, a repetitive ventricular response was frequently observed in idiopathic right VT. The changing pattern of repetitive ventricular response, slowing, and/or disappearing was consistent with successful RF ablation.     

Prenatal diagnosis of femoral‐facial syndrome: Case report

Femoral‐facial syndrome (FFS), also known as femoral hypoplasia–unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 42 :49–52, 2014     

Magnetic resonance imaging findings of isolated right ventricular hypoplasia

Isolated right ventricular hypoplasia, unassociated with severe pulmonary or tricuspid valvular malformation, is a rare congenital heart disease. Herein the authors report a case of a 6-year-old girl having isolated right ventricular hypoplasia treated with one and a half ventricular repair, and describe the cardiac magnetic resonance (CMR) imaging findings. CMR imaging revealed diffuse subendocardial or transmural late gadolinium enhancement of the right ventricle with a thin, smooth wall due to the absence of trabeculations. Noncompaction of the left ventricle was also demonstrated, although the relevance to isolated right ventricular hypoplasia is not obviously explicable.     

Isolated noncompaction of the left ventricular myocardium

Isolated noncompaction of the left ventricular myocardium (INVM), first described in 1984, is an unclassified cardiomyopathy and is assumed to occur as an arrest of the compaction process during the normal development of the heart. Between weeks 5 to 8 of human fetal development, the ventricular myocardium undergoes gradual compaction with transformation of the relatively large intertrabecular spaces into capillaries while the residual spaces within the trabecular meshwork gradually flatten or disappear. In the case of INVM, the spaces within the intertrabecular meshwork persist while no other cardiac abnormalities exist. Although there is substantial evidence supporting the developmental hypothesis, other pathogenetic processes responsible for INVM have been discussed. It can be assumed that INVM will be better understood in the future as the molecular genetic basis of cardiomyopathies will be further unravelled. Echocardiography has been shown to be the method of choice in diagnosis of INVM. The diagnostic criteria can be summarized as: 1) appearance of at least four prominent trabeculations and deep intertrabecular recesses; 2) appearance of blood flow from the ventricular cavity into the intertrabecular recesses as visualized by color Doppler imaging; 3) the segments of noncompacted myocardium mainly involve the apex and the inferior mid and lateral mid of the left ventricular wall and typically show a two-layered structure with an endsystolic ratio greater than two between the noncompacted subendocardial layer and the compacted subepicardial layer; 4) absence of coexisting cardiac abnormalities. Magnetic resonance imaging using modern gradient echo sequences has also been shown to diagnose INVM accurately. The clinical presentation of INVM is characterized by a high prevalence of heart failure, thromboembolic events and arrhythmias including ventricular tachycardia and atrial fibrillation. The establishment of a registry, which was initiated by the "Arbeitsgemeinschaft Leitende Kardiologische Krankenhausärzte (ALKK)" recently, may provide further clues for diagnosis, risk stratification, and management of this disease.     

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.     

Apical hypertrophic cardiomyopathy: a case of slow flow in lad and malign ventricular arrhythmia

The coronary slow flow phenomenon is an angiographic finding characterized by delayed distal vessel opacification in the absence of epicardial coronary artery disease. Patients often present with acute coronary syndrome. Histopathologic studies have revealed the existence of fibromuscular hyperplasia and myofibrilar hypertrophy. Apical hypertrophic cardiomyopathy is a benign progressive form of hypertrophic cardiomyopathy, that is rarely observed in western communities. It remains commonly asymptomatic until advanced ages. Syncope, arrhythmia or sudden death may be the first symptom. We report a case of slow coronary arterial flow in a 71-year-old male patient with apical hypertrophic cardiomyopathy who experienced chest pain and sudden cardiac arrest due to ventricular arrhythmia.     

房室瓣环位移评价心室发育不良胎儿心功能的临床价值研究

目的应用M型超声心动图测量中晚孕胎儿房室瓣环位移（AVAD),探讨AVAD评价心室发育不良胎儿心功能的价值。 方法（1）选取150例孕龄19~41周的正常中晚孕胎儿,应用M型超声心动图测量AVAD［包括二尖瓣瓣环位移（MAD）和三尖瓣瓣环位移（TAD）］及左心室射血分数（LVEF）、左心室短轴缩短率（LVFS）;二维超声画迹法测量右心室舒张末期面积（RVEDA）及收缩末期面积（RVESA）,计算右心室面积变化率（RVPCA）;频谱多普勒（PW）取房室瓣口血流流速曲线,测量E、A峰值流速;组织多普勒（TDI）取房室瓣瓣环的运动流速曲线,分别测量房室瓣环舒张早期峰值流速（Em）、舒张晚期峰值流速（Am）及收缩期峰值流速（Sm）。定量分析AVAD与孕周（GA）及常规心室功能参数间的相关性。（2）选取49例心室发育不良胎儿（其中左心室发育不良组23例,右心室发育不良组26例）,随机选择上述150例正常胎儿中的30例为对照组,应用M型超声心动图测量其AVAD,并比较3组的差别。 结果（1）正常中晚孕胎儿AVAD随GA增加而增长,AVAD与E、A及Em、Am、Sm呈正相关,其中MAD与E、A、Em、Am、Sm呈正相关（r=0.347、0.290、0.407、0.393、0.517,P均<0.01）,TAD与E、A、Em、Am、Sm呈正相关（r=0.351、0.320、0.497、0.403、0.598,P均<0.01）;MAD与LVEF、LVFS无相关性（r=0.199、0.258,P均>0.05）,TAD与RVPCA呈正相关（r=0.837,P<0.01）。（2）左心室发育不良组的MAD较对照组减小［（7.11±0.56）mm vs（7.80±0.87）mm］、TAD较对照组增大［（9.78±2.11）mm vs （9.38±1.51）mm］,差异均有统计学意义（t=2.98、2.47,P均<0.05）;右心室发育不良组的MAD较对照组增大［（8.35±0.69）mm vs （7.80±0.87）mm］、TAD较对照组减小［（7.98±1.69）mm vs（9.38±1.51）mm］,差异均有统计学意义（t=2.42、4.18,P均<0.05）。 结论AVAD是评价胎儿心室长轴功能有价值的参数,可有效评估心室发育不良胎儿的心功能,并有助于此类胎儿的产前咨询。