Birth weight and cardiovascular malformations: a population-based study. The Baltimore-Washington Infant Study

Mean birth weights were evaluated in infants with D-transposition of the great arteries, tetralogy of Fallot, endocardial cushion defect, hypoplastic left heart syndrome, pulmonary stenosis, aortic stenosis, coarctation of the aorta, ventricular septal defect, and atrial septal defect in a population-based case-control study of congenital cardiovascular malformations in residents of Maryland, Washington, D.C., and northern Virginia (1981-1987). Study subjects were liveborn singletons without extracardiac anomalies. After adjustment for potentially confounding maternal, gestational, and infant factors, significant birth weight deficits were found for infants with tetralogy of Fallot, endocardial cushion defect, hypoplastic left heart syndrome, pulmonary stenosis, coarctation of the aorta, ventricular septal defect, and atrial septal defect. After adjustment, infants with these malformations (except coarctation of the aorta and atrial septal defect) were also significantly more likely than were controls to have low birth weight for gestational age. These findings strengthen previous evidence that certain cardiovascular malformations and low birth weight may be causally related.     

Descriptive epidemiology of selected congenital heart defects, Hawaii, 1986-1999

Congenital heart defects are the most common type of birth defect and contribute the most to infant mortality due to birth defects. This study examined the relationship between several demographic factors and selected congenital heart defects among the unique multiethnic population in Hawaii during 1986-99, using data from a population-based birth defects registry. Rates were significantly higher in 1993-99 than in 1986-92 for transposition of the great arteries and Ebstein's anomaly, and significantly lower for tetralogy of Fallot. Significantly elevated rates were found with maternal age of > or =35 years for ventricular septal defect, atrial septal defect, endocardial cushion defect, and hypoplastic left heart syndrome. When cases with a known chromosomal abnormality were excluded, elevated rates among the older maternal age group remained for ventricular septal defect, atrial septal defect, and hypoplastic left heart syndrome. Whites had significantly higher rates than one or more of the other racial/ethnic groups for Ebstein's anomaly and coarctation of aorta, and significantly lower rates for tetralogy of Fallot, atrial septal defect, pulmonary valve atresia/stenosis, tricuspid valve atresia/stenosis, and anomalous pulmonary venous return. Significantly higher rates were found among males for transposition of great arteries, aortic valve stenosis, and interrupted aortic arch and, among females, for ventricular septal defect, endocardial cushion defect, and anomalous pulmonary venous return. Some of these differences were consistent with the literature while others were not.     

低体重婴幼儿先天性心脏病的外科治疗

目的总结低体重婴幼儿先天性心脏病外科手术的经验。方法自2000年1月～2004年12月共为133例15公斤以下的低体重婴幼儿(3岁以下)先天性心脏病患儿施行外科手术治疗;其中5～12个月32例(24.1%),13～24个月46例(34.59%),25～36个月55例(41.35%);体重6～15公斤,其中6～10公斤48例,11～15公斤85例。全组非体外循环动脉导管结扎术29例;体外循环手术104例,其中室间隔缺损修补术64例,常温心脏不停跳继发孔房间隔缺损修补术16例,常温心脏不停跳肺动脉瓣狭窄直视分离术7例,部分行房室间隔缺损矫治术2例,部分行肺静脉异位引流矫治术3例,法乐氏四联症一期矫治术5例,房间隔缺损并右室流出道梗阻4例,其它复合畸形一期矫治术3例。结果全组术后住院死亡6例,死亡率4.5%。术后主要并发症包括低心排综合征,呼吸衰竭,心律失常,肺部感染,出血等。死亡原因包括重度低心排综合征,严重室性心律失常,肺动脉高压危象等。结论心外科、心儿科、麻醉、体外循环和术后监护等人员的密切配合是小儿心脏外科迅速发展的重要前提,心内外科镶嵌治疗成为婴幼儿心脏外科手术成功的重要保证。     

A case-control study of major congenital heart defects in Sweden — 1981–1986

This paper reports the results of a case-control study of major congenital heart defects (CHD) in Sweden. During the period 1981–1986, 1,324 such cases were identified and 2,648 controls were selected. Some common maternal characteristics and exposures were studied using information from prospectively collected data. Possible associations with CHD were found for previous perinatal death, maternal diabetes, epilepsy, hydramnios and disproportion between fetus and pelvis. More specific associations were observed between previous spontaneous abortion, epilepsy, hydramnios and truncus anomalies and between diabetes and septal anomalies. However, no associations were found with involuntary childlessness, contraceptive use, or smoking.Abbreviations ASD atrial septal defect - CHD congenital heart defect - CI confidence interval - CoA coarctation of the aorta - DORY double outlet right ventricle - ECD endocardial cushion defect - HLHS hypoplastic left heart syndrome - IUD intrauterine device - LMP last menstrual period - OC oral contraceptive - OR odds ratio - PDA patent ductus arteriosus - TGV transposition of the great vessels - VSD ventricular septal defect     

Infectious enterococcal endocarditis associated with Laubry and Pezzi syndrome

Laubry and Pezzi syndrome is a rare but serious complication of ventricular septal defect that increase the infectious endocarditis risk. Authors report a case of an 18 years old young girl presenting an enterococcus infectious endocarditis associated to Laubry and Pezzi syndrome. Initial course is not favourable requiring a surgical treatment in the acute stage. Bacterial endocarditis combined with Laubry and Pezzi syndrome have a poor prognosis needing observation and strict preventive precautions when a favoring factor is present.     

Epidemiology, and diagnostic and surgical trends in atrioventricular septal defect in Malta

Atrioventricular septal defect (AVSD) is a common congenital cardiac malformation, associated with Down's syndrome. AVSD causes heart failure, and if not treated early, irreversible pulmonary hypertension. In Malta, a decline in age at diagnosis and at surgery was present from 1944 to 1994. The birth prevalence was 0.31/1000 live births, within the range obtained from a literature review. Down's syndrome children are now treated as are non-syndromic children.     

Risk comparison for prenatal use of analgesics and selected birth defects,National Birth Defects Prevention Study 1997–2011

PurposeTo compare the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and/or opioids to the use of acetaminophen without NSAIDs or opioids with respect to associations with birth defects.MethodsWe used data from the National Birth Defects Prevention Study (1997–2011). Exposure was self-reported maternal analgesic use from the month before through the third month of pregnancy (periconceptional). Adjusted odds ratios (aORs) were calculated to examine associations with 16 birth defects.ResultsCompared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with cleft palate, cleft lip without cleft palate, anencephaly, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2–1.6). Opioids were associated with tetralogy of Fallot, perimembranous ventricular septal defect, and ventricular septal defect with atrial septal defect (aOR range, 1.8–2.3), whereas use of both opioids and NSAIDs was associated with gastroschisis, cleft palate, spina bifida, hypoplastic left heart syndrome, and pulmonary valve stenosis (aOR range, 2.0–2.9).ConclusionsCompared to periconceptional use of acetaminophen, selected birth defects occurred more frequently among infants of women using NSAIDs and/or opioids. However, we could not definitely determine whether these risks relate to the drugs or to indications for treatment.     

Large ostium secundum atrial septal defect discovered after severe mitral regurgitation. A case report

Mitral regurgitation is associated with ostium secundum atrial septal defect in about 22% of cases. mitral valve prolapse induced by atrial shunt is the main cause of this regurgitation. Ususually, atrial septal defect discovery precedes that of mitral regurgitation. The aim of this paper is to focus on clinical, hemodynamic and evolutive details of atrial septal defect and mitral regurgitation association. We report the case of large atrial septal defect in 37 years old girl referred for hemodynamic investigation of mitral regurgitation. The divergence of clinical data, electrocardiogram and echocardiography findings has led to atrial septal defect discovery. Hemodynamic data showed severe pulmonary arterial hypertension (medium pulmonary arterial pressure: 45 mmhg). Hence, mitral valve substitution by mechanical prosthesis and closure of atrial septal defect have been carried out. Ten hours after surgery, death occurred because of severe pulmonary arterial hypertension and heart failure. CONCLUSION: Association of severe mitral regurgitation and large ostium secundum atrial septal defect is an original anatomo-clinic entity caracterized by mitral valve lesions diversity and severe secondary pulmonary arterial hypertension. Danger of such a hypertension is due to progressive and infra clinical rise of pulmonary resistances and association of increased pulmonary blood flow and capillary pulmonary hypertension.     

成人法乐四联症的外科治疗

目的总结成人法乐四联症根治术外科治疗经验。方法1985年11月~2005年5月收治18岁以上成年法四病人115例,手术根治。所有病例均经右室切口疏通右室流出道(RVOT),同时修补室间隔。跨瓣环RVOT补片74例,单纯RVOT补片37例,1例肺动脉与RVOT分别予以补片,5例右室切口直接缝合。结果术后室间隔残余分流7例(直径3~7 mm),RVOT残余梗阻3例(>50 mmHg)。10例伴重度低心排。死亡6例,死亡率5.22%。结论根据成人法四特点,合理设计手术方案,成人法乐氏四联症根治可取得良好效果。     

超声对胎儿单纯室间隔缺损在宫内和产后婴儿期闭合情况的研究

目的应用超声心动图观察胎儿期及产后婴儿期单纯室间隔缺损（IVSD）自然愈合的情况及影响因素。方法选取61例诊断有胎儿单纯性室缺但不愿终止妊娠的孕妇为研究对象,对胎儿进行二维和彩色多普勒超声心动图检查,记录胎儿室间隔缺损的位置、形态、大小、自然闭合的时间和闭合率,出生后存活的婴儿监测室间隔缺损（VSD）上述指标至1岁,计算宫内及产后1年的闭合率及总的闭合率、不同位置室缺的闭合率,并对不同大小室缺的闭合率进行组间比较。结果在61例中,22例（36.1%）宫内自然闭合,9例（14.8%）在产后1年内闭合,30例（49.2%）仍未闭合。室间隔缺损的大小以及缺损的位置与愈合率有关,室间隔缺小于3.0mm的闭合率明显高于室缺为3.1~5.0mm的闭合率（P=0.005）和5mm以上室缺的闭合率（P=0.002）,但室缺为3.1~5.0mm的闭合率与大于5mm的室缺的闭合率之间无显著性差异（P=0.39）。膜部和肌部缺损的闭合率明显高于干下型室缺的闭合率（P≤0.01）,肌部缺损的闭合率高于膜部缺损的闭合率,但两者之间无统计学差异（P=0.65）。结论单纯室间隔缺损有较高的宫内自然闭合率并且在产后婴儿期仍能自然闭合,这种自然愈合的过程与室间隔缺损的位置和大小显著相关。肌部和膜部缺损最容易愈合,干下型不易闭合;小缺损具较高的闭合率,较大的缺损不易闭合。     

Maternal risk factors and major associated defects in infants with Down syndrome

More than 50% of infants with Down syndrome have associated defects that cause considerable morbidity and mortality. We evaluated the hypothesis that the trisomic genome interacts with environmental factors to increase the risk for specific associated defects. We evaluated risk factors present during early pregnancy in a multiracial population of 687 infants with Down syndrome. Mother's cigarette smoking was associated with the grouped cardiac defects [odds ratio (OR)=2.0; 95% confidence interval (CI) = 1.2-3.2]. When adjusted for other cardiac defects and maternal race, the following specific defects were associated with smoking: atrioventricular canal (OR = 2.3; 95% CI = 1.2-4.5), tetralogy of Fallot (OR = 4.6; 95% CI = 1.2-17.0), and atrial septal defects without ventricular septal defect (OR = 2.2; 95% CI = 1.1-4.3). Hirschsprung disease was associated with mother's daily consumption of more than three cups of coffee (OR = 6.02; 95% CI = 1.2-29.7) and with mother's fever (OR = 3.4; 95% CI = 0.7-16.4), but the number of cases was small. Use of alcohol was not associated with any defect. Mother's race, age, parity, income, or education did not confound the associations. Results suggest that environmental factors can modify the occurrence of associated anomalies in the embryo with Down syndrome.     

先天性心脏病复合畸形的临床介入治疗策略探讨及评价

目的研究先天性心脏病复合畸形经心导管介入治疗的病例选择、手术方法、疗效、安全性及评价。方法选择2008年1月至2008年12月在本院接受同期介入治疗的11例复合型先天性心脏病患儿为研究对象。其中,男性患儿为3例,女性为8例,平均年龄为（4.08±2．64）岁,最小为5个月,最大为10岁。本组先天性心脏病复合畸形类型包括：3例室间隔缺损（ventricular septal defect,VSD）合并动脉导管未闭（patent ductus arteriosus,PDA）,3例房间隔缺损（atrial septal defect,ASD）合并肺动脉瓣狭窄（pulmonary stenosis,PS）,2例房间隔缺损合并动脉导管未闭,1例房间隔缺损合并室间隔缺损,2例动脉导管未闭合并主动脉缩窄（coarctation of aorta,COA）,其中1例为同期介入治疗。介入治疗复合畸形的顺序为：肺动脉瓣球囊扩张术或主动脉球囊扩张术、室间隔缺损封堵术、动脉导管未闭封堵术、房间隔缺损封堵术（本研究遵循的程序符合本院人体试验委员会所制定的伦理学标准,得到该委员会批准,取得受试对象的知情同意,并与试验患儿监护人签署临床研究知情同意书）。结果11例患儿均成功封堵,手术顺利。术后X射线心脏造影及彩超提示,封堵器成形好,未见残余分流。术中、术后均未见严重并发症。其中,1例室间隔缺损术后心电图提示不完全右束支传导阻滞,给予地塞米松治疗后,心电图复查正常。结论介入治疗单纯性先天性心脏病的技术目前比较成熟,成功率高,但复合型先天性心脏病同期进行介入治疗,其操作较复杂,技术难度较高。本研究证明,若掌握恰当手术指征,制定合理操作策略,手术过程仔细、谨慎,介入治疗的可行性、安全性是较肯定的。     

经胸与经食管超声心动图在室间隔缺损术前对照研究中的应用价值

目的应用经胸和经食管超声心动图在室间隔缺损术前对比观察缺损类型和大小。方法 24例室间隔缺损患儿,术前分别进行经胸和经食管超声心动图检查。年龄3～12岁,平均年龄8.6±4.3岁,体重15～40kg,平均体重20.2±9.8kg。膜周型室间隔缺损18例,嵴内型室间隔缺损6例。缺损大小3～9mm,平均大小5.7±3.6mm。术前分别用两种方法观察缺损的大小,部位及缺损与周边组织的关系。结果二者对于缺损定位及大小的观察没有明显差异。对于缺损分流束的观察经食管超声明显优于经胸超声。结论经胸与经食管超声心动图在术前评价室间隔缺损中发挥着重要的作用,经食管超声评价缺损分流束的多少更具优势。     

微创切口小儿心内直视手术56例临床分析

目的 报告一组小儿先天性心脏病采用微创切口手术治疗的经验。方法 全组56例病儿中继发孔房间隔缺损（ASD）25例,室间隔缺损（VSD）26例,右室双腔心（DCRV）2例,肺动脉狭窄（PS）3例。右前外侧小切口不停跳、不阻断主动脉心内直视手术23例,胸部正中小切口33例。结果 除1例因术中显露差改作常规切口,全组56例无手术死亡,无严重并发症。病儿术后恢复快,平均住院时间8d。结论 微创切口小儿心内直视手术创新小、美观、痛苦少、恢复快、住院时间短、安全有效,尤其适应于继发孔房缺及膜部或膜周室缺修补手术。     

Cardiovascular abnormalities in Marfan syndrome]

During the period February to December 1990, 52 adult patients were referred to our clinic for evaluation of the presence of the Marfan syndrome. In 24 out of 52 patients the Marfan syndrome was diagnosed. Cardiac abnormalities were found in all patients: mitral insufficiency because of mitral valve prolapse (83%), aortic dilatation (67%), aortic insufficiency (38%), tricuspid valve insufficiency with or without tricuspid valve prolapse (17%) and atrial septal defect (4%). In 3 patients an aneurysm of the ascending aorta was found. Early recognition of the Marfan syndrome is relevant for prevention of the life threatening complication of aortic dissection. In patients with valve abnormalities endocarditis prophylaxis is advised. A Marfan outpatient clinic offers optimal diagnostic possibilities.     

室缺损修补术后残余分流行导管封堵术1例的护理

目的:探讨下腔静脉异位引流伴室间隔缺损修补术后残余分流行封堵术后的护理方法。方法:选取某医院行室间隔缺损修补术后残余分流介入封堵术后并发机械性溶血的1例患者,对其围术期护理进行探讨和总结。结果:患者经过全程精心治疗和护理,1个月后康复出院。结论:室间隔修补术后残余分流行封堵术后并发机械性溶血患者的护理应密切观察尿液,监测肾功能,做好心理护理、基础护理及康复指导。     

Severe pulmonary hypertension in ostium secundum atrial septal defect

Between 1969 and 1999, 149 patients underwent cardiac catheterization for ostium secundum atrial septal defect, in hemodynamics department. Age average was 21.5 +/- 16 years (2-67). Systolic pulmonary arterial pressure average was 35 +/- 15.6 mm Hg (15-140). The atrial septal defect was closed in 108 patients (by surgery in 107 cases, and by interventional catheterization in one case). Mean follow-up was 8 +/- 7 years (1-20). Overall mortality rate was 2.7%. Severe pulmonary hypertension (systolic pressure > or = to 50 mm Hg) was seen in 13.4% of cases. It was present at all ages, but more frequent above 20 years. Obstructive pulmonary vascular disease was noticed in 2% of patients. Clinical and haemodynamic data analysis showed that, severe pulmonary hypertension is a frequent, and unpredictible complication of secundum atrial septal defect; it might occur at any age and worsen considerably the cardiac disease prognosis. Because of atrial septal defect hemodynamic profile, and current rise of percutaneous closure technics, invasive investigation should be more and more routinely performed, in order to define the best therapeutic option. Early and systematic closure of secundum atrial septal defects, should prevent, or at least minimize pulmonary vascular lesions.     

实时三维超声心动图在室间隔缺损介入治疗中的应用进展

研究了实时三维超声在室间隔缺损介入治疗的应用进展情况,综述了实时三维超声心动图在经导管室间隔缺损封堵术治疗之前的诊断,介入治疗中的监测及术后疗效评价的优势,最后指出了实时三维超声心动图在室间隔缺损的诊断和治疗等方面具有重要的临床价值。     

产前超声对矫正型大动脉转位的诊断价值

目的 探讨产前超声应用心脏三节段分析法对诊断矫正型大动脉转位(CTGA)的价值。方法 采用心脏三节段分析法对胎儿进行筛查,检出或疑似CTGA胎儿6例,对其超声病例资料进行回顾性分析。结果 6例检出或疑似CTGA的胎儿中,经生后超声心动图或尸检证实有1例为单纯性CTGA,3例为CTGA合并室间隔缺损,1例为CTGA合并室间隔缺损、肺动脉狭窄,1例为CTGA合并室间隔缺损、主动脉弓缩窄,其中1例漏诊肌部室间隔缺损,1例漏诊主动脉弓缩窄。结论 房室连接不一致和心室-大动脉连接不一致是诊断CTGA的关键,仔细观察四腔心切面和左、右室流出道切面是诊断CTGA的重要步骤。心脏三节段分析法是产前超声诊断胎儿CTGA的可靠方法,具有很好的临床应用价值。     

'Palm reading' as a diagnostic aid

In four patients, a man aged 53, a woman aged 63 and two men aged 67 and 53 years, respectively, inspection of the hand led to the final diagnosis. In the first patient who presented with clubbing of the fingers and pulmonary hypertension, a small atrial septal defect was detected. The second patient had thick curved yellow nails and recurrent pleural effusions as part of this yellow nail syndrome. The third patient presented with clubbing and hypertrophic osteoarthropathy, a secondary complaint to adenocarcinoma of the lung. The fourth patient had increasing pulmonary hypertension as a secondary complaint to recurrent multiple pulmonary embolism from deep venous malformations of his right hand, arm and shoulder as a part of the Klippel-Trenaunay syndrome. These cases show that inspection of the hand may give a clue to the diagnosis.