体外受精-胚胎移植胎儿先天性心脏病的超声表现及分类特征

目的探讨体外受精-胚胎移植（IVF-ET）妊娠的心脏病胎儿超声心动图特征及分类情况的特殊性。方法对2011年1月至2013年6月孕18-24周在南京军区福州总医院行胎儿超声心动图检查的IVF-ET妊娠孕妇1129例,分析IVF-ET妊娠胎儿先天性心脏病超声表现及分类特征,并对部分检出胎儿心脏病的孕妇选择性进行羊水穿刺术,追踪所有入选孕妇的妊娠过程及胎儿临床结局。结果1129例接受IVF-ET的孕妇中单胎妊娠953例、双胎妊娠176例,共检测胎儿1305个,其中超声心动图诊断胎儿心脏畸形15例（1.1%,15/1305）,临床确诊15例。IVF-ET心脏畸形胎儿超声心动图表现：（1）法洛四联症5例,超声心动图示胎儿主动脉增宽伴骑跨,室间隔缺损,肺动脉狭窄,右心室肥厚。（2）左心发育不良综合征1例,超声心动图示胎儿左心明显缩小,二尖瓣闭锁,右心扩大,肺动脉扩张。（3）完全型房室间隔缺损1例,超声心动图示胎儿心内膜正常十字交叉结构消失,房室共瓣。（4）大动脉共干Ⅰ型1例,超声心动图示胎儿心底部仅见1条大血管,短小的肺动脉主干自大动脉发出,并见室间隔缺损。（5）主动脉狭窄及缩窄各1例,超声心动图示1例胎儿主动脉瓣增厚,升主动脉增宽;1例胎儿主动脉峡部狭窄伴狭窄后扩张。（6）肺动脉狭窄2例,超声心动图示胎儿肺动脉瓣狭窄伴狭窄后肺动脉扩张。（7）室间隔缺损3例,超声心动图示胎儿室间隔连续中断,断端边缘回声增强。超声漏诊胎儿室间隔小缺损1例,为出生后超声心动图检查发现。结论 IVF-ET妊娠胎儿较自然妊娠胎儿先天性心脏病的发生率高,IVF-ET妊娠胎儿与自然妊娠胎儿先天性心脏病的超声心动图表现相同。其中以法洛四联症和室间隔缺损最多见。对IVF-ET妊娠胎儿行超声心动图检查能全面系统评价IVF-ET妊娠胎儿心脏异常的情况,有重要临床指导意义。     

Ultrasound evaluation of aortic valve anatomy in the fetus.

OBJECTIVE: To assess the feasibility of ultrasound identification of aortic valve anatomy in the fetus, with particular emphasis on the detection of bicuspid aortic valve. METHODS: This study was a prospective analysis of 21 fetuses with prenatally diagnosed congenital left heart obstructive lesions and 45 normal fetuses undergoing routine ultrasound evaluated at a tertiary referral center. These fetuses underwent detailed echocardiography, including the study of the aortic valve on a targeted short-axis view of the right ventricle. Necropsies or postnatal echocardiograms were available for confirmation of the diagnosis in all cases. RESULTS: Aortic cusps and commissures were satisfactorily visualized in 38/45 (84%) normal fetuses and in 18/21 (86%) fetuses with congenital heart disease. The aortic valve was correctly defined as bicuspid in one normal fetus and in six fetuses with congenital heart disease. In two fetuses with a positive family history, the bicuspid aortic valve was isolated. There was one incorrect diagnosis (a unicuspid unicommissural valve diagnosed prenatally as a bicuspid aortic valve in a fetus with severe aortic stenosis) and one false-positive diagnosis in a fetus diagnosed with a coarctation and a bicuspid aortic valve late in the third trimester of pregnancy and in which both anomalies were not confirmed at neonatal echocardiography. CONCLUSIONS: This study demonstrated that aortic valve anatomy can be satisfactorily assessed in fetuses with and without left heart obstructive lesions. We believe that a detailed search for a bicuspid aortic valve should be attempted in all patients referred for a positive family history of congenital heart disease, in general, and of left ventricle outflow tract obstruction or bicuspid aortic valve, in particular. In fact, the presence of an asymptomatic bicuspid aortic valve has been demonstrated to represent an important factor predisposing to the development of bacterial endocarditis and dissecting aortic aneurysm late in adult life. Therefore, an early detection of such an anomaly may contribute to ensure a longer symptom-free lifespan of individuals with the most common cardiac anomaly at birth.     

经腹部超声心动图在孕早期胎儿先天性心脏病诊断中的应用价值

目的探讨经腹部超声心动图在孕早期胎儿先天性心脏病（CHD）诊断中的应用价值。 方法对2012年6月至2015年4月在南京军区福州总医院产前检查的1 288例高危孕妇孕早期（孕13周）胎儿行超声心动图检查,分析孕早期胎儿CHD超声表现及其特征,追踪所有入选孕妇的妊娠过程及胎儿临床结局。 结果经腹部超声心动图在1288例胎儿中诊断CHD 16例（1.2%,16/1288）,其中复杂型CHD 11例,单纯型CHD 5例。孕早期胎儿CHD超声心动图表现：（1）法洛四联症2例,超声心动图显示主动脉轻度增宽,未见明显骑跨,室间隔缺损,肺动脉狭窄,远端显示不清。（2）左心发育不良综合征2例,孕13周超声心动图显示左心明显缩小,右心扩大,二尖瓣闭锁,室间隔缺损,主动脉轻度狭窄伴血流速度加快,肺动脉增宽。（3）大动脉共干I型2例,超声心动图显示心底部仅见1条大血管,未见明显分支血管,并见室间隔缺损。（4）完全型房室间隔缺损4例,超声心动图显示心内膜正常十字交叉结构消失,房室共瓣。（5）单心室1例,超声心动图未见室间隔回声,仅见一单心室。（6）主动脉缩窄1例,孕13周超声心动图显示心内结构正常,主动脉内径正常;孕16周超声心动图显示左心偏小,主动脉峡部轻度狭窄。（7）室间隔缺损4例,超声心动图显示室间隔连续中断,断端边缘回声增强。1例小的室间隔缺损误诊,漏诊室间隔缺损和永存左上腔静脉各1例。超声诊断CHD后孕妇选择终止妊娠11例,出生5例,随访结果与产前诊断均相符。 结论经腹部超声心动图可早期诊断多数胎儿CHD,尤其表现为四腔心异常的CHD,但对CHD异常大血管起源、分支及走向的显示存在一定困难,有待中孕期进一步确诊,早孕期经腹部超声心动图检查有重要临床应用价值。     

Severe cardiac disease in pregnancy, part II: impact of congenital and acquired cardiac diseases during pregnancy

PURPOSE OF REVIEW: Part II of this review gives an overview of the different maternal cardiac problems during pregnancy and their management, and developments over recent years. RECENT FINDINGS: Many studies published over the last 5 years provided new insights on different cardiac diseases in pregnancy. Publications discussed in this part of the review on cardiac disease in pregnancy, for example, provide epidemiological data on heart disease during pregnancy in general, and cardiomyopathy and ischemic heart disease in particular. In addition, we discussed the implications of a history of peripartum cardiomyopathy for a subsequent pregnancy, interventional strategies during pregnancy in women with ischemic heart disease, and the role of echocardiography in the evaluation of cardiac disease in pregnancy. SUMMARY: The prevalence of the different causes of heart disease has shifted towards congenital heart disease by the end of the millennium. In developing countries, relatively rare diseases like rheumatic fever are still common, so these diseases are increasingly 'exported' to developed countries. The group of women with congenital heart disease represents most women with heart disease during pregnancy, followed by rheumatic heart disease. With the exception of patients with Eisenmenger's syndrome, pulmonary vascular obstructive disease, and Marfan's syndrome with aortopathy, maternal death during pregnancy is rare in women with heart disease. Although the risk for mortality is low in pregnant women with preexistent cardiac disease, these women are at increased risk for serious morbidity such as heart failure, arrhythmias, and stroke.     

Aortic stenosis: diagnosis and treatment

Aortic stenosis is the most important cardiac valve disease in developed countries, affecting 3 percent of persons older than 65 years. Although the survival rate in asymptomatic patients with aortic stenosis is comparable to that in age- and sex-matched control patients, the average overall survival rate in symptomatic persons without aortic valve replacement is two to three years. During the asymptomatic latent period, left ventricular hypertrophy and atrial augmentation of preload compensate for the increase in afterload caused by aortic stenosis. As the disease worsens, these compensatory mechanisms become inadequate, leading to symptoms of heart failure, angina, or syncope. Aortic valve replacement should be recommended in most patients with any of these symptoms accompanied by evidence of significant aortic stenosis on echocardiography. Watchful waiting is recommended for most asymptomatic patients, including those with hemodynamically significant aortic stenosis. Patients should be educated about symptoms and the importance of promptly reporting them to their physicians. Serial Doppler echocardiography is recommended annually for severe aortic stenosis, every one or two years for moderate disease, and every three to five years for mild disease. Cardiology referral is recommended for all patients with symptomatic aortic stenosis, those with severe aortic stenosis without apparent symptoms, and those with left ventricular dysfunction. Many patients with asymptomatic aortic stenosis have concurrent cardiac conditions, such as hypertension, atrial fibrillation, and coronary artery disease, which should also be carefully managed.     

The role of transvaginal sonography in the early detection of congenital heart disease.

The antenatal diagnosis of congenital heart disease by fetal echocardiography is rarely achieved before 18-20 weeks' gestation. Transvaginal sonography allows examination of fetal anatomy at earlier gestations than the transabdominal approach. In a screening study of 270 low-risk women between 8 and 14 weeks' gestation using a 5 MHz vaginal transducer, it was possible to obtain adequate four-chamber views in over 70% from 12 weeks. In a second study of 32 women at high risk of congenital heart disease scanned between 14 and 15 weeks' gestation, satisfactory views were obtained transvaginally in 21 women. Seven of the remainder had normal cardiac anatomy confirmed by transabdominal scanning. In three of the four where normal cardiac anatomy could not be demonstrated by either transvaginal or transabdominal scanning, severe congenital heart disease was diagnosed and later confirmed.It is unlikely that transvaginal sonography will replace abdominal scanning for the screening of low-risk pregnancies, but it is a valuable addition to the early examination of those women identified as being at high risk of congenital heart disease.     

Type B aortic interruption in an adult

A 19-year-old male presented with mild to moderate hypertension and differential cyanosis. Transthoracic echocardiography and multi-slice computed tomography revealed type B aortic interruption along with various congenital cardiac defects including patent ductus arteriosus with bidirectional shunt, perimembranous ventricular septal defect with left-to-right shunt, bicuspid aortic valve, and severe pulmonary hypertension.     

彩色多普勒超声多切面联合显示法在高危人群产前胎儿心脏筛查中的诊断价值

目的 :探讨彩色多普勒超声多切面联合显示法在高危人群产前胎儿心脏筛查中的诊断价值。方法 :对2 165例具有高危因素的孕妇及2 050例无高危因素的孕妇,在孕20~36周运用多切面联合显示法,在上腹部短轴切面、四腔心切面、左心室流出道切面、右心室流出道切面、三血管/气管、心底短轴切面、主动脉弓切面、动脉导管弓切面、上下腔静脉切面、肺静脉入左心房切面,进行胎儿心脏形态结构检查。结果:产前超声发现心脏异常93例,其中高危人群检出率为2.73%(59/2 165),无高危因素人群检出率为1.66%(34/2 050),差异有统计学意义(P<0.05)。结论:彩色多普勒超声多切面联合显示法是诊断胎儿先天性心脏病的可靠手段,在胎儿先天性心脏畸形的产前诊断方面起到重要作用。     

A case of a quadricuspid aortic valve identified preoperatively using transthoracic echocardiography

Quadricuspid aortic valve is an extremely rare congenital heart anomaly that often causes valve incompetence, requiring surgical intervention. Care must be taken to avoid surgical complications in patients with quadricuspid aortic valve; thus, preoperative diagnosis is important. A 76-year-old man presented with exertional dyspnea due to aortic regurgitation. Transthoracic and transesophageal echocardiography revealed severe aortic regurgitation caused by quadricuspid aortic valve. To avoid interference with the cardiac conduction system, we performed aortic valve replacement using an ingenious technique, in which pledgeted sutures on the accessory leaflet were placed from outside the sinus of Valsalva to above the aortic annulus. The patient recovered uneventfully and was discharged from the hospital without any complications. While preoperative diagnosis of quadricuspid aortic valve is considered difficult, we identified it preoperatively using transthoracic echocardiography; we were, thus, able to properly prepare for complete atrioventricular block.     

How successful is fetal echocardiographic examination in the first trimester of pregnancy?

OBJECTIVE: Transvaginal echocardiography is still rarely incorporated into the first-trimester ultrasound examination, despite the fact that heart defects are the most frequently encountered congenital malformation. This study was undertaken to explore the possibilities of fetal echocardiography in the late first trimester. METHODS: In 85 women with uncomplicated singleton pregnancies, three transvaginal ultrasound examinations between 11+0 and 13+6 weeks' gestation were performed. The examinations were carried out at weekly intervals and visualization of several echocardiographic planes was attempted (four-chamber view, aortic root, long axis of the aorta, pulmonary trunk with three-vessel view, cross-over of the great arteries). The diameter of the aorta and pulmonary trunk were measured to establish reference ranges. RESULTS: The success rate of visualization of the different parameters increased with gestational age. The ability to perform a full cardiac examination increased from 20% in week 11 to 92% in week 13. Longitudinally derived growth curves of the aorta and the pulmonary trunk were constructed and both showed a linear increase with gestational age. CONCLUSIONS: The best time in the first trimester to perform transvaginal echocardiography is at 13+0 to 13+6 weeks' gestation. In this period, a full cardiac examination is possible in 92% of cases. The increase of success rate compared to earlier studies is likely to result from the use of better resolution, high-frequency transvaginal probes. First-trimester echocardiography provides an opportunity to examine the fetal heart early in gestation, especially in patients at risk for cardiac malformations because of a positive family history or in fetuses with increased nuchal translucency.     

Role of echocardiography in the diagnosis and management of asymptomatic severe aortic stenosis

Calcification of normal tricuspid and congenital bicuspid valves is the most common cause of aortic stenosis in industrialized countries. There is compelling evidence that thickening and calcification in aortic valve disease is a complex inflammatory process and not simply age-related degeneration. Both aortic sclerosis and stenosis represent phenotypic expressions of one disease continuum. Patients with symptomatic severe aortic stenosis benefit from aortic valve replacement. However, management in the absence of symptoms remains challenging. While a delay of aortic valve replacement due to lack of symptom recognition may result in a dismal outcome, unselected premature aortic valve replacement may be associated with unbalanced risks of cardiac surgery. Echocardiography is the standard for evaluating the severity of aortic stenosis; however, most of the current echocardiographic parameters have limitations in predicting the onset of symptoms. This review summarizes the current guidelines and the emerging application of echocardiographic techniques in the management of asymptomatic severe aortic stenosis.     

Spontaneous chordae tendineae rupture during peripartum

Acute cardiopulmonary distress in pregnancy always carries exceptionally arduous challenge for physicians. Here we report a patient who sustained spontaneous chordae tendineae rupture complicated with severe mitral regurgitation and acute pulmonary edema during peripartum period. Probable causes of chordae tendineae rupture include mitral valve prolapse, infectious endocarditis, congenital heart disease, rheumatic heart disease, ischemic heart disease, connective tissue diseases, previous mitral valve surgery or pregnancy itself. The pathophysiology of spontaneous chordae tendineae rupture due to pregnancy remains unclear. However, certain physiological stress, including hormone changes related matrix remodeling, increased cardiac output during pregnancy or labor pain may precipitate to this condition. Literature reviews from previously reported cases showed that those who were diagnosed chordae tendineae rupture at very preterm period all had preterm delivery.     

Heart Valve Involvement in Fabry Cardiomyopathy

Fabry disease is a rare X-linked lysosomal storage disorder leading to an accumulation of glycosphingolipids in all tissues and organs including the heart. Among the pathologies of myocardial involvement, reviews and registry data list affection of heart valves and its hemodynamic significance as predominant alterations during progression of the disease. We thought to approach this uncertainty with a systematic observational study. In a single center study, 111 patients with genetically proven Fabry disease were systematically investigated by echocardiography for abnormalities of the valves in the left (aortic and mitral valve) and right heart (pulmonary and tricuspid valve). In addition, 60 patients were followed by echocardiography for 2.7 ± 1.5 y (range 1 to 6). Both valve stenosis and regurgitation were classified as mild, moderate or severe. Overall, no patient had severe heart valve abnormalities. The most frequent findings were mild aortic (n = 17), mitral (n = 57) and tricuspid (n = 38) valve regurgitation. Only two patients showed mild aortic valve stenosis. Moderate aortic (n = 1), mitral (n = 2) or tricuspid (n = 1) regurgitation were rarely detected. All Fabry patients in advanced stages (n = 9) had only mild mitral regurgitation and one of them had mild aortic and mitral regurgitation, moderate tricuspid regurgitation and mild aortic stenosis. Thirty patients had completely normal valve function. There was no significant change toward hemodynamic relevant heart valve abnormalities during follow-up. Mild left ventricular valve regurgitations are frequent in Fabry disease. However, these valve abnormalities are not the major limitations for the Fabry heart. (E-mail: weidemann_f@medizin.uni-wuerzburg.de)     

急诊床旁超声心动图在临床应用的价值

目的： 本文探讨急诊床旁超声心动图在临床的应用价值。方法： 我们回顾性分析了１９９８ 年 １１ 月至１９９９ 年 ４ 月进行的急诊床旁超声心动图检查共计６０ 例。结果： 床旁超声检查的诊断阳性率为８７％ （５２／６０）, 其中,冠心病２０ 例 （３３．３％ , ２０／６０, 与心电图和临床生化检查一起协助诊断急性心梗４ 例）; 单发或者合并心包、胸腔积液１３ 例 （２２％ １３／６０）; 瓣膜病１１ 例 （１８％ , １１／６０）; 外科术后患者９ 例 （１５％ , ９／６０）; 高血压心脏病４ 例 （６．７％ ,４／６０）; 心肌病４ 例 （６．７％ , ４／６０）; 肺心病３ 例 （５％ , ３／６０）; 先心病１ 例 （１．７％ , １／６０）; 夹层 ２ 例; 其他６ 例。结论： 急诊床旁超声心动图检查无论在诊断阳性率方面, 还是在对临床干预的结果方面, 均具有相当重要的临床应用价值     

Well-functioning double-orifice mitral valve in a young adult

We report the case of a rare congenital anomaly, a double-orifice mitral valve, in a 23-year-old woman who was asymptomatic and had no history of heart disease. Transthoracic and multiplane transesophageal echocardiography revealed 2 functionally normal orifices of equal size, the least frequent anatomic presentation of this anomaly. We prescribed antibiotic prophylaxis because of the concomitant presence of a mildly stenotic bicuspid aortic valve and recommended annual follow-up examinations to monitor both lesions for possible progression.     

急诊床旁超声心动图在急重症心血管疾病中应用

目的探讨急诊床旁超声心动图检查在急重症心血管疾病诊断中价值。方法回顾性分析188例行急诊床旁超声心动图检查的急重症心血管疾病患者的临床资料。结果超声心动图诊断与临床诊断相符161例,其中单纯急性心肌梗死14例,非急性心肌梗死后左心功能不全44例,急性心肌梗死合并左心功能不全20例,心包积液47例,慢性肺源性心脏病7例,A型主动脉夹层4例,肺栓塞11例,主动脉瓣狭窄2例,心肌炎2例,肥厚型心肌病6例,风湿性心脏病合并左心房血栓3例,主动脉窦瘤破裂1例,诊断符合率为85．6％。结论急诊床旁超声心动图在急重症心血管疾病的早期诊断中有重要价值。     

Repeat Pregnancy after Prior Aortic Valve-in-Valve Replacement: A Cautionary Tale

Transcatheter aortic valve replacement (TAVR) within a severely stenotic native aortic valve or previously placed surgical biologic aortic valve replacement (SAVR) is a rare occurrence in pregnant patients. The short- and long-term procedural outcomes for future pregnancies in these women or any woman of child bearing age who have received prior TAVR or TAVR in SAVR, are unknown. We describe the first result of a repeat pregnancy outcome in a woman with a history of prior TAVR in SAVR. Both maternal and fetal outcomes were favorable, but maternal cardiac complications observed in the third trimester emphasize our concerns regarding risk for cardiac complications in subsequent pregnancies in patients with a prior TAVR in SAVR. Despite the maternal complications that occurred during repeat pregnancy in this patient, a successful pregnancy outcome reaffirms our recommendation to utilize a multidisciplinary team for pregnancy management in patients with prior TAVR or TAVR in SAVR and to help in the management of any cardiac complications that may occur during or shortly after pregnancy.     

Aortopulmonary septal defect with interrupted aortic arch in a monochorionic diamniotic twin pregnancy

We report a monochorionic diamniotic twin pregnancy with prenatal diagnosis of aortopulmonary septal defect combined with type?B interrupted aortic arch in one of the fetuses. The mother was referred for fetal echocardiography at 24?weeks’ gestation due to suspected congenital heart disease. Prenatal echocardiography revealed a defect of 2.8?mm between the main pulmonary artery and the ascending aorta. The course of the ascending aorta was straight to the neck and head, and there was no continuity of the aortic arch after the origin of innominate and left common carotid arteries. Thus, aortopulmonary septal defect with type?B interrupted aortic arch was suspected. Postnatal echocardiography confirmed the diagnosis, and surgical repair was performed on the 10th day after birth. The combination of aortopulmonary septal defect with type?B interrupted aortic arch is a very rare condition that can be diagnosed by fetal echocardiographic examination in the second trimester of gestation. Prenatal diagnosis is important for the prognosis, since early surgical intervention is needed to prevent development of severe heart failure in the neonate.     

Stress echocardiography in valvular heart disease

ABSTRACT

Introduction: The management of patients with heart valve disease can be complex. Patients may have symptoms disproportionate to the severity or the severity may be unclear. In addition, the optimal timing of intervention in patients with severe disease may be controversial.

Areas covered: This article examines the role of stress echocardiography for assessment of patients with low-flow, low-gradient aortic stenosis, asymptomatic severe valve disease and patients where symptoms are discordant to the resting severity of valve disease.

Expert commentary: Stress echocardiography helps clinicians determine the true severity of valve disease and may identify the cause of symptoms in patients with only mild/moderate disease. The data provided by stress echocardiography will help determine the appropriate management strategy and the correct timing of intervention.     

超声心动图在新生儿心脏杂音检查中的应用价值

目的探讨超声心动图在新生儿心脏杂音检查中的应用价值。方法5581例新生儿中听诊有心脏杂音的49例进行常规及剑下各切面超声心动图检查,按心脏三级顺序分段法检查并做出诊断。结果检出先天性心脏病27例,占总人数的4．8％0,其中室间隔缺损15例,占55．5％;房间隔缺损10例,占37．1％;原发性肺动脉高压1例,占3．7％;复杂心脏畸形1例,占3．7％;检出其他心脏病变22例,占总人数的3．9％0,其中未闭合的动脉导管12例,二尖瓣和／或三尖瓣反流9例,左室假腱索1例。结论彩色多普勒超声心动图准确、无创,为新生儿心脏杂音的诊断和鉴别诊断提供了方便、快捷的检查手段,使新生儿的先天性心脏病能得到早期诊断。