医学分享-临床心脏病学50例：解决问题的方法 病例1 室间隔缺损（VSD）

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Case 1 Ventricular septal defect 病例1室间隔缺损

Case presentation

病例介绍

A 31-year old man was referred to the cardiologist by a general physician, for evaluation of a heart murmur. 一名31岁的男子被一名普通内科医生介绍到心脏病专家，以评估心脏杂音。 This young man had been denied a life insurance policy because the physician, empanelled by the insurance company, had incidentally noticed the murmur during medical examination. The man was normally very active and denied complaints of chest pain, breathlessness, palpitations or syncope. 这个年轻人被拒绝投保人寿保险，因为保险公司聘请的医生在体检时意外地注意到了杂音。该男子通常是非常活跃的，否认抱怨胸痛，呼吸困难，心悸或晕厥。 There was no history of cyanotic spells, joint pains or repeated chest infections during childhood and he regularly played cricket and football in school. 儿童时期没有发绀、关节疼痛或反复胸部感染的病史，他经常在学校打板球和踢足球。 However, the patient recollected that the doctor in the school medical room had noticed the murmur and made a note of it in his medical report. 然而，病人回忆起，学校医疗室的医生注意到了这种杂音，并在医疗报告中记录下来。 On examination, the man was of average built and height and looked healthy. The pulse was 84 beats/min. and regular with no special character. The BP was134/76 mm Hg in the right arm while sitting. 通过检查，这个男人身材中等，身高中等，看上去很健康。脉搏是每分钟84次，规则，无特殊之处。坐着时右臂的血压为134/76毫米汞柱。 There was no anemia, cyanosis or clinical sign of congestive heart failure. The apex beat was ill-sustained, heaving in nature and slightly displaced towards the axilla. 没有贫血、发绀或心力衰竭的临床症状。心尖搏动持续时间不长，性质起伏，轻微向腋窝移位。 There was a pansystolic murmur over the middle of the left sternal border with a S3 sound in early diastole. The murmur did not radiate towards the axilla. There was no parasternal heave and the lower border of the liver was not palpable. The lung fields were clear. 左胸骨边缘中部有全收缩期杂音，舒张期早期有S3音。杂音没有向腋下放射。胸骨旁无隆起，肝下缘不可触及。肺野清晰。

Clinical discussion

临床讨论

From the history and physical examination, this asymptomatic young man had a parasternal pansystolic murmur. 从病史和体检来看，这个无症状的年轻人有胸骨旁全收缩期杂音。

Typical causes of a pansystolic murmur are mitral regurgitation, ventricular septal defect and tricuspid regurgitation. Sometimes, tight coarctation of aorta or a patent ductus arteriosus with pulmonary hypertension can also produce a pansystolic murmur but these murmurs are  usually located at the upper left sternal edge. 全收缩期杂音的典型原因是二尖瓣反流、室间隔缺损和三尖瓣反流。有时，主动脉狭窄或动脉导管未闭伴肺动脉高压也会产生全收缩期杂音，但这些杂音通常位于胸骨左上缘。

The murmur of mitral regurgitation radiates towards the axilla while the murmur of tricuspid regurgitation is usually associated with engorged neck veins and an enlarged pulsatile liver. ECG of the patient showed biphasic RS complexes in the mid-precordial leads. X-ray chest showed mild cardiomegaly with minimal signs of pulmonary congestion. On ECHO, the left ventricle was normal in size with normal ejection fraction. 二尖瓣反流的杂音向腋窝放射，而三尖瓣反流杂音通常与颈静脉充血和搏动性肝脏增大有关。患者心电图显示心前导联中段有双相RS波形。X光胸片显示轻度心脏肥大，肺部充血迹象轻微。ECHO显示，左心室大小正常，射血分数正常。

A signal drop-out was noticed in the mid-portion of the interventricular septum. There was no abnormality of the cardiac valves and the estimated pulmonary artery pressure was normal. On color Doppler, an abnormal flow map was observed extending from the left ventricle to the right ventricle (Fig. 1.1), with a high velocity jet on continuous wave Doppler. Therefore, the definite diagnosis in this case is ventricular septal defect (VSD). 在室间隔中部发现信号下降。心脏瓣膜无异常，估计肺动脉压力正常。在彩色多普勒上，观察到异常血流图从左心室延伸到右心室（Fig1.1），连续波多普勒上有高速射流。因此，本例明确诊断为室间隔缺损（VSD）。

Figure 1.1: Color flow map extending from left ventricle to right ventricle  (从左心室延伸到右心室的彩色血流图)

In VSD, a breach in the continuity of the interventricular septum creates aleft-to-right shunt between the ventricles (Fig.1.2). This congenital cardiac defect occurs due to complexity of embryological development of the septum, which hasa membranous and a muscular portion. 在室间隔缺损中，室间隔连续性的破裂造成心室之间的左向右分流（Fig1.2）。 这种先天性心脏缺陷来自于隔膜（中隔）胚胎发育的复杂性，包含膜和肌肉部分。

Figure 1.2: Ventricular septal defect(室间隔缺损)

Most (80%) VSDs occur at the junction of these sections and are termed as perimembranous VSD (Fig. 1.3). 大多数（80%）VSD发生在交叉点，被称为膜周VSD（Fig1.3）。 Some VSDs occur in the muscular section (muscular VSD) and may be multiple (sieve-like). 一些VSD发生在肌肉部（肌部VSD），并且可以是多个（筛状）。

Figure 1.3: Various locations of ventricular septal defect (VSD) (室间隔缺损（VSD）的不同位置) 

RA: Right atrium(右心房）; RV: Right ventricle（右心室）  Rare varieties of VSD are endocardial cushion defects (supracristal VSD) and outlet septal defect (subpulmonic VSD) (Table 1.1). 罕见的室间隔缺损是心内膜垫缺损（嵴上型室间隔缺损）和出口间隔缺损（肺下室间隔缺损）（Table 1.1）。 Table 1.1 Types of ventricular septal defect (室间隔缺损的类型)

Perimembranous VSD(膜周VSD）

Subpulmonic VSD（肺下VSD）

Supracristal VSD（嵴上VSD）

Muscular VSD（肌部VSD）

A small VSD (Maladie de Roger) generates a loud pansystolic murmur in a  localized area on the precordium. The murmur is located in the upper parasternal area in outlet VSD and in the mid-portion in perimembranous VSD. 一个小的VSD（Maladie de Roger）在心前区的局部区域产生响亮的全收缩期杂音。 出口室间隔缺损的杂音位于胸骨旁上部，膜周室间隔缺损的杂音位于中部。 A muscular VSD produces a short systolic murmur since the defect shuts off during muscle contraction in later systole. This murmur is located over the lower parasternal area. A large VSD with elevated right ventricular pressure that equals left ventricular pressure (bidirectional shunt) is also associated with an early systolic murmur. Therefore, there is no correlation between the length or intensity of the murmur and the size of the VSD. 肌部VSD产生短暂的收缩期杂音，因为在收缩期后期的肌肉收缩过程中，缺损会关闭。杂音位于胸骨旁下部。右心室压力升高等于左心室压力的大室间隔缺损（双向分流）也与早期收缩期杂音有关。因此，杂音的长度或强度与室间隔缺损的大小之间没有相关性。 A large shunt may be accompanied by a diastolic flow murmur and a S3 sound, due to torrential flow across the mitral valve. The S2 is widely split due to early aortic valve closure. On ECHO, signal drop-out is not observed if the VSD is too small (<3 mm size) or muscular in location. The width of the colour flow map approximates the VSD size. On Doppler, high flow velocity indicates a small VSD. 大的分流可能伴有舒张流杂音和S3音，这是由于流经二尖瓣的急流。由于主动脉瓣早期关闭，S2广泛分裂。在ECHO上，如果VSD太小（<3 mm）或处于肌部，则观察不到信号丢失。彩色流图的宽度近似于VSD的大小。在多普勒上，高流速表明VSD较小。 The flow velocity is low if the VSD is large and the shunt is bidirectional. VSD is the commonest form of congenital acyanotic heart disease and accounts for 25% of all cardiac malformations. VSD may occur in isolation or as part of a complex constellation of congenital cardiac abnormalities. 如果VSD较大且分流是双向的，则流速较低。VSD是先天性非紫绀性心脏病的最常见形式，占所有心脏畸形的25%。VSD可单独发生或作为先天性心脏异常的复杂群的一部分。 Aortic regurgitation may be associated due to lack of support to the aortic valve in perimembranous VSD. Complications of VSD in childhood are growth retardation and repeated chest infections. Reversal of shunt can occur later in life when pulmonary pressure exceeds the systemic pressure. Endocarditis can follow any non-cardiac surgical procedure. 主动脉瓣反流可能与膜周室间隔缺损中主动脉瓣缺乏支撑有关。儿童VSD的并发症是生长迟缓和反复胸部感染。分流逆转可能发生在生命的晚期，当肺动脉的压力超过体循环压力时。心内膜炎可继发于任何非心脏性疾病。

MANAGEMENT ISSUES

管理问题

Large sized VSDs allow large volumes of left-to-right shunt and usually present in childhood with failure to thrive, breathlessness and recurrent respiratory  infections. They can lead to pulmonary hypertension, right heart failure and  ultimately reversal of shunt (right-to-left). This is designated as the Eisenmenger’s syndrome. Such VSDs are usually closed in childhood to avoid complications and before the Eisenmenger’s syndrome has developed. 大型VSD允许大量的左向右分流，通常出现在儿童期，发育不良、呼吸困难和反复呼吸道感染。它们可能导致肺动脉高压、右心衰竭，最终导致分流逆转（从右向左）。这被指定为Eisenmenger（埃森曼格） 综合征。这种VSD通常在儿童时期关闭，以避免并发症，并在出现Eisenmenger(埃森曼格)综合征之前关闭。 Medium sized VSDs are associated with a moderate sized shunt. The shunt  is large enough to cause breathlessness, but not enough to cause pulmonary  hypertension and shunt reversal.  中型VSD与中度的分流相关。 分流大到足以引起呼吸困难，但不足以引起肺动脉高压和分流逆转。 Such patients do reasonably well during  childhood, but may become progressively symptomatic as left ventricular  compliance declines with age and pulmonary venous congestion develops. Such  VSDs are usually closed in adulthood, to avoid the development of heart failure. 这类患者在儿童时期表现良好，但随着年龄的增长，左心室顺应性下降，肺静脉充血，可能会逐渐出现症状。这样的VSD通常在成年后关闭，以避免心力衰竭的发展。 Small sized VSDs do not cause significant shunting and are often asymptomatic. Some of them may close as the child grows older. Those that do not close spontaneously are closed by intervention for reasons other than the shunt.  These reasons are development of endocarditis or associated significant aortic regurgitation (Table 1.2). 小型VSD不会造成明显分流，且通常无症状。随着孩子的长大，其中一些可能会（自动）关闭。那些不能自发关闭的VSD，由于分流以外的原因，通过（手术）干预而关闭。这些原因是心内膜炎或相关的严重主动脉反流（Table1.2）。

Table 1.2 手术关闭VSD的适应症

Large-sized VSD with volume overload (pulmonary to systemic flow ratio ＞2：1)

大的VSD，容量超负荷（肺与全身流量比＞2:1）

Medium-sized VSD with congestive symptoms without pulmonary hypertension.

中度的室间隔缺损，有充血症状，无肺动脉高压。

Small-sized VSD without congestive symptoms with endocarditis or aortic regurgitation.

小型室间隔缺损，无充血症状，但有心内膜炎或主动脉瓣反流。

RECENT ADVANCES

最近的进展

The last decade or two have witnessed remarkable progress in the percutaneous techniques for closure of ventricular septal defects, thus avoiding the risks  associated with open heart surgery. Although transesophageal echocardiography  (TEE) generally suffices to guide the deployment of the closure device, intracardiac  ultrasound provides more accurate assessment. Sonography can provide vital  information pertaining to the location and size of the defect and the rim around  it, so as to facilitate proper device selection and placement. 近十年或二十年来，经皮封堵室间隔缺损的技术取得了显著进展，从而避免了心脏直视手术的风险。尽管经食管超声心动图（TEE）通常足以指导闭合装置的部署，但心内超声能提供更准确的评估。超声可以提供与缺陷及其周围边缘的位置和大小有关的重要信息，以便于正确选择和放置器械。 (完）

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