临床心脏病学50例：病例3

导语

小编注：法洛氏四联症（Tetralogy of Fallot，简写：ToF）1672年由丹麦生理学家尼尔斯·斯坦森（Niels Stensen）首先发现，后于1888年被法国内科医生法洛（Étienne-Louis Arthur Fallot）做了全面地描述，因此被命名为“法洛氏四联症”。

Congenital Heart Diseases

第一节 先天性心脏病 Case 3 Fallot’s Tetralogy

病例3   法洛四联症

Case Presentation 病例介绍 

A 14-year old girl was admitted to a tertiary-care hospital of a metropolitan city, with the complaint of progressive shortness of breath since 2 months, more so for the last 5 days. There was no history of fever, productive cough, chest pain or hemoptysis. The girl’s mother also noticed an increase in the child’s abdominal girth and swelling around both her ankles. The patient was born after a c aesarian section and was noticed to be cyanosed at birth. At the age of 3 years, the girl had undergone a surgical operation for congenital heart disease, in this very hospital. There was no history of repeated chest infection or childhood asthma, but the patient's growth milestones of early childhood were delayed. 一名14岁的女孩住进了一家大都市的三级护理医院，主诉2个月以来渐进的呼吸短促，最近5天更是如此。无发热、多产性咳嗽、胸痛或咯血史。女孩的母亲还注意到孩子的腹围增加，脚踝周围肿胀。患者是剖腹产后出生的，出生时被发现呈青色（紫绀）。3岁时，女孩在这家医院接受了先天性心脏病手术。没有反复胸部感染或儿童哮喘的病史，但患者早期的成长里程碑（重要事件）被推迟。 On examination, the patient was slightly breathless at rest but was not distressed. The pulse rate was 84 beats/min., with a BP of 96/66 mm Hg. There was cyanosis over the tongue and lips and the finger-tips and toes were clubbed. Pitting ankle edema was present and the neck veins were engorged. Per abdomen findings were a 5 cm hepatomegaly with mild ascites. The breath sounds were vesicular in character without any rhonchi or crepts. On precordial examination, the apex beat was normal in location with a left parasternal heave. Auscultation revealed a normal S1 and S2 with an early-diastolic murmur over the pulmonary area and a soft pansystolic murmur over the lower left parasternal area.

检查发现，患者在休息时有点喘不过气来，但并不痛苦。脉搏率为84次/分，血压为96/66mm Hg。舌头和嘴唇发绀，指尖和脚趾呈棒状。脚踝出现凹陷水肿，颈部静脉充血。腹部的发现是一个5厘米的肝肿大，伴有轻度腹水。呼吸的声音是水泡状的，没有任何干啰音或噼啪声（crepitation)。心前区检查时，心尖搏动位置正常，左侧胸骨旁隆起。听诊显示S1和S2正常，肺区域有早期舒张杂音，左下胸骨旁区域有轻柔的全收缩期杂音。

Clinical Discussion 临床讨论 From the history and physical examination, this young girl had congenital cyanotic heart disease that was operated upon during her early childhood. At present she was in right heart failure with pulmonary and tricuspid valve regurgitation and had right ventricular enlargement.  从病史和体格检查来看，这个年轻女孩患有先天性紫绀性心脏病，在她幼年时接受了手术。目前，她患有右心衰竭，伴有肺和三尖瓣反流，右心室扩大。 Right ventricular enlargement is associated with a palpable left parasternal heave. Common causes of right ventricular enlargement are pulmonary valve stenosis and pulmonary arterial hypertension.

右心室增大与可触及的左胸骨旁隆起有关。右心室扩大的常见原因是肺动脉瓣狭窄和肺动脉高压。

The commonest cause of pulmonary regurgitation is pulmonary hypertension, but it can also follow a surgical procedure on the pulmonary valve. Rare causes of pulmonary regurgitation are subvalvular pulmonary stenosis and carcinoid syndrome (Table 3.1). 

肺动脉瓣反流最常见的原因是肺动脉高压，但也可以继发于肺动脉瓣的外科手术。肺动脉瓣反流的罕见原因是肺动脉瓣下狭窄和类癌综合征（表3.1）。

Functional tricuspid regurgitation (dilated annulus) is a consequence of right ventricular dilatation due to any cause. Tricuspid regurgitation is associated with raised JVP with prominent v waves and rapid y descent. An enlarged pulsatile liver with a pansystolic murmur over the lower left parasternal area are also observed. 功能性三尖瓣反流（瓣环扩张）是任何原因导致右心室扩张的结果。三尖瓣反流与JVP升高相关，伴有明显的v波和快速的y波下降。还观察到左胸骨旁下区域的搏动性肝脏增大并伴有全收缩期杂音。

ECG showed sinus rhythm with tall R waves in right precordial leads and T wave inversion, suggestive of right ventricular hypertrophy with strain (Fig. 3.1). P. pulmonale and right axis deviation of the QRS were also seen. X-ray chest findings were increased cardio-thoracic ratio with reduced pulmonary vascular markings and a right-sided aortic arch. On ECHO, the left ventricle was normal in size with an ejection fraction of 55% but the right ventricle was significantly dilated. The mitral and aortic valves were normal in structure but there was moderate pulmonary regurgitation and significant tricuspid regurgitation.

心电图显示右心前导联窦性心律，高R波，T波倒置，提示右心室肥厚伴劳损（图3.1）。也可见肺型P波和QRS电轴右偏。胸部X光检查可发现心-胸比增加，肺血管纹理减少，右侧主动脉弓。ECHO显示，左心室大小正常，射血分数为55%，但右心室明显扩张。二尖瓣和主动脉瓣结构正常，存在中度的肺动脉瓣反流和显著的三尖瓣反流。

This patient was operated upon for a cardiac defect, when she was 3 years old. The most common congenital cyanotic heart disease that is associated with survival until adolescence and sometimes even into adulthood is tetralogy of Fallot. Therefore, in all probability, this patient was operated upon for Fallot’s tetralogy and had now developed pulmonary regurgitation (Fig. 3.2), as a complication of the surgical procedure on the pulmonary valve. The right ventricular enlargement that ensued, led to secondary tricuspid regurgitation because of annular dilatation.

这名患者在3岁时因为心脏缺陷接受了手术。最常见的先天性紫绀型心脏病，其生存到青春期，有时甚至到成年，是法洛四联症。因此，非常可能，这名患者接受了法洛四联症手术，现已出现肺动脉瓣反流（图3.2），这是肺瓣膜手术的并发症。随后的出现的右心室扩大，由于瓣环扩张，导致继发性的三尖瓣反流。

Tetralogy of Fallot is the most common congenital cyanotic heart disease that

survives into adolescence. It is associated with a right-to-left shunt since birth

unlike isolated septal defects which are left-to-right shunts and undergo reversal only after the development of pulmonary hypertension. 

The four components (Fig. 3.3) of Fallot’s tetralogy are:

法洛四联症是最常见的先天性紫绀型心脏病，生存到青春期。它与出生后的右向左分流有关，这与孤立的间隔缺损不同，间隔缺损是从左向右分流，仅在肺动脉高压发展后才发生逆向分流（右向左分流）。法洛四联症的四个组成部分（图3.3）是：

Pulmonary stenosis (PS)    肺动脉狭窄

Overriding of aorta (OA)   主动脉骑跨

Ventricular septal defect (VSD)   室间隔缺损

Right ventricular hypertrophy (RVH)   右心室肥厚

In a typical unrepaired case of Fallot’s tetralogy, auscultatory findings are a loud, single S2 and a parasternal systolic murmur. The S2 is single because the P2 is muffled and the A2 is loud because the aorta is anteriorly placed. The systolic murmur originates from the subvalvular pulmonary stenosis and not from the ventricular septal defect. The classical clinical features of Fallot’s tetralogy are central cyanosis, finger clubbing, anoxic spells, growth retardation and exercise intolerance. Congestive heart failure is rare because the septal defect balances the right and left ventricular pressures. If left unrepaired, catastrophic complications in adolescence are arterial thrombo-embolism and cerebral abscess. 在一个典型的未修复的法洛四联症病例中，听诊结果是响亮的单一S2和胸骨旁收缩杂音。S2是单一的，是因为P2被遮盖，而A2是响亮的，因为主动脉位于前方。收缩期杂音源于肺瓣下狭窄，而非室间隔缺损。法洛四联症的典型临床特征是中枢性紫绀、手指棒状、缺氧、生长迟缓和运动不耐受。充血性心力衰竭是罕见的，因为室间隔缺损平衡了左右心室压力。如果未经修复，青春期的灾难性并发症是动脉血栓栓塞和脑脓肿。 

MANAGEMENT ISSUES管理问题

Until the 1970s and even early-1980s, surgical interventions in very early childhood were largely palliative. These shunt procedures were performed to bypass the RVOT obstruction and to enhance pulmonary blood flow. These shunts were Blalock-Taussig shunt (subclavian artery to pulmonary artery) and Waterston shunt (ascending aorta to right pulmonary artery). However, even after these procedures, patients remained symptomatic and complications occurred unabated. Nowadays, total surgical correction is undertaken to close the shunt and to enhance pulmonary blood flow. This includes patch closure of the VSD with pulmonary subvalvular muscle resection and valvotomy. Cardiac surgeons are increasingly encountering complications of prior surgical correction, as these children survive into their teens. Complications after surgery include residual shunt, residual stenosis or, post-valvotomy pulmonary regurgitation and right ventricular enlargement as in our case. Pulmonary valve replacement with tricuspid annular repair would be the best course of action in this case. 直到20世纪70年代甚至80年代初，儿童早期的外科手术在很大程度上是治标不治本的。进行这些分流手术是为了绕过右心室流出道阻塞并增强肺血流。这些分流是Blalock-Taussig分流（锁骨下动脉至肺动脉）和Waterston分流（升主动脉至右肺动脉）。然而，即使在这些手术后，患者仍然有症状，并发症也没有减少。如今，全外科矫正被用于闭合分流并增强肺血流。这包括用肺瓣下肌切除术和瓣膜切开术修补VSD。随着这些孩子活到十几岁，心脏外科医生越来越多地遇到手术前矫正的并发症。术后并发症包括残余分流、残余狭窄或瓣膜切开术后肺反流和右心室扩大。在这种情况下，用三尖瓣环修复术替换肺瓣是最佳的治疗方法。

RECENT ADVANCES最近的进展 

Prior cardiac surgery often distorts the anatomy of the heart to an extent that the information obtained from transthoracic echocardiography is generally skewed and inconclusive. Modern cardiac imaging techniques of computed tomography (CT) and magnetic resonance imaging (MRI) are particularly useful to evaluate postoperative patients. Percutaneous techniques are currently being evaluated in the management of Fallot’s tetralogy. Pulmonary balloon angioplasty and artificial valve deployment by non-surgical intervention have been recently described.

先前的心脏手术通常会扭曲心脏的解剖结构，以至于从经胸超声心动图获得的信息通常是歪曲的且没有结论的。计算机断层扫描（CT）和磁共振成像（MRI）的现代心脏成像技术对于评估术后患者尤其有用。目前正在评估经皮技术在法洛四联症治疗中的应用。肺球囊血管成形术和非手术介入的人工瓣膜展开术最近被描述。

【文中重点单词】 fallot [ˈfælət]  法洛 （姓氏） tetralogy [tiˈtrælədʒi] 四部曲;法洛四联症;四联剧;四联症 tertiary英 [ˈtɜːʃəri]   美 [ˈtɜːrʃieri]  n. 第三级;第三系;(T-)第三纪;三期梅毒病害;第三级教士 adj. 第三的;第三位的;第三级的 metropolitan 英 [ˌmetrəˈpɒlɪtən]   美 [ˌmetrəˈpɑːlɪtən]   n. 大都会;大城市人;大主教;宗主国的公民;有大城市气派的人 adj. 大都会的;大城市的;本土的 hemoptysis 英 [hɪˈmɔptɪsɪs]  n.咳血；咯血；喀血 girth 英 [ɡɜːθ]   美 [ɡɜːrθ]  n. 周长;腰围;围长;干围;(固定马鞍或驮载的)肚带，腹带 caesarian [[siˈsæriən] adj. 剖腹产的 section 英 [ˈsekʃn]   美 [ˈsekʃn]   n. 部分;部门;部件;散件;节;款;项;段;阶层;区;一平方英里（土地单位）;剖面图;切开;切片 vt. 切开;切断;做切片; （注意，section，是名词，也是动词） cyanosed ['saiənəʊst]  adj.发绀的，绀色的，青紫的 distressed 英 [dɪˈstrest]   美 [dɪˈstrest]   adj. 烦恼的;忧虑的;苦恼的;痛苦的; v. 使忧虑;使悲伤;使苦恼（distress的过去分词和过去式） clubbed 英 [klʌbd]   美 [klʌbd]   v. 用棍棒(或类似棍棒之物)打;  adj. 俱乐部的；客饭性质的，棒状的 pitting 英 [ˈpɪtɪŋ]   美 [ˈpɪtɪŋ]  n. 点蚀;凹陷性;蚀损;孔蚀 hepatomegaly 英 [ˌhepətəʊˈmeɡəlɪ]  n. 肝大;肝脏肿大;肝淤血;肝发大 ascites英 [əˈsaɪtiːz]   美 [əˈsaɪtˌiːz]  n.腹腔积水；水腹；腹水 vesicular 英 [veˈsɪkjʊlə]  adj. 囊的；（尤指）泡的;（小）疱的;有气孔的；多孔状构造的;泡囊的;小孔洞的；小腔的;  (注意：重音在后） rhonchi [ˈrɔntʃi] n. 干罗音;鼾音;干啰音;呼吸音有痰音;干性罗音 crepts 是crepitation的简写， 英 [ˌkrepɪˈteɪʃn]   美 [ˌkrepɪˈteɪʃn]  n.噼啪声 diastolic 英 [daɪəˈstɒlɪk]   美 [ˌdaɪəˈstɑlɪk]   adj. 心脏舒张的 precordial [prɪˈkɔ:diəu] adj. 心前区的 JVP  jugular venous pulse 颈静脉脉搏 jugular 英 [ˈdʒʌɡjələ(r)]   美 [ˈdʒʌɡjələr]   n.颈静脉 adj.【解】颈静脉的； carcinoid 英 [ˈkɑːsɪˌnɔɪd]  n.类癌 annulus 英 [ˈænjʊləs] n.圆环（两个同心圆之间的区域）;环；环形物; pulsatile 英 [ˈpʌlsəˌtaɪl] adj.脉动的；跳动的；搏动的 finger clubbing 棒状手指 anoxic英 [əˈnɒksɪk] adj.缺氧的;缺氧的；氧不足的; catastrophic 英 [ˌkætəˈstrɒfɪk]  adj.灾难性的;极坏的；糟糕的; cerebral abscess 脑脓肿 palliative 英 [ˈpæliətɪv]  美 [ˈpæliətɪv]  n.缓解剂;治标药物;治标措施;保守疗法;权宜之计; adj.减轻(疼痛等)的;缓和的;辩解的;姑息的 unabated [ˌʌnəˈbeɪtɪd] adj.未减弱的；未衰退的；未减少的 adv.未减弱地；未衰退地；未减少地 resection   英 [rɪˈsekʃn]   美 [rɪˈsekʃn]  n.切除术;后方交会 valvotomy 英  ['vælv əʊ təmɪ]  美  ['vælvəʊtəmɪ]  n. 瓣膜切开术 distort 英 [dɪˈstɔːt]   美 [dɪˈstɔːrt]  v.使变形;扭曲;使失真;歪曲;曲解 inconclusive 英 [ˌɪnkənˈkluːsɪv]   美 [ˌɪnkənˈkluːsɪv]  adj. 无定论的;不确定的;非决定性的 resonance 英 [ˈrezənəns]   美 [ˈrezənəns]   n.洪亮;响亮;共鸣;共振;谐振 skewed 英 [skjuːd] 美 [skjʊd] adj. 被扭曲的；歪斜的 deployment 英 [dɪˈplɔɪmənt]   美 [dɪˈplɔɪmənt]  n. (部队、资源或装备的)部署，调集 （完）