天海翼2014年作品封面:儿童先天性心脏病

【概述】儿童先天性心脏病（先心病），即孩子出生时带有心血管结构的异常。对父母来说，若得知自己的孩子患有先心病，难免会担心孩子短期与长期的健康；不过，学习一些关于先心病的知识会让你更加了解孩子的病理状况，以及未来可能会出现的问题。

   一部分先心病的病情很轻微，不需治疗。比如，一个心腔壁上的小洞——它可能会自行关闭。另一些先心病则更复杂，可能需要多年内多次手术治疗。 

Serious congenital heart defects usually become evident during the first few hours, days, weeks and months of life. Signs and symptoms could include:

Pale gray or blue skin color (cyanosis)

Swelling in the legs, abdomen or areas around the eyes

【症状&体征】严重的先心病常在出生几小时、几天、几星期、几个月内便表现出症状。包括：
  ● 皮肤颜色异常（发绀——皮肤呈青紫、乌灰色）。
  ● 呼吸急促。
  ● 水肿——下肢，腹部，及眼睛周围。
  ● 吃奶时气短（上不来气），并因此导致体重增长缓慢（发育迟缓）。

Easily becoming short of breath during exercise or activity

Built-up fluid in the heart or lungs

   症状较轻的先心病往往直到童年才会被发现。孩子可能不会有任何明显的症状与体征。随着年龄增长，可能会出现：
  ● 活动时易气短、易疲劳（可能表现为玩耍一阵后突然蹲踞）。
  ● 心包积液与胸腔积液。
  ● 水肿——手，脚，脚踝。

 Serious congenital heart defects are often diagnosed before or soon after your child is born. If you notice that your baby has any of the symptoms above, call your child's doctor.

§  何时该去看医生？
   如果是比较严重的先心病，常常在孩子出生前后就会被发现。如果你发现孩子有上述任何一条症状，叫医生来。
    如果是病情较轻的先心病，孩子随年龄增长可能会出现上述症状，此时就要去看医生了：是先心病？或是其他疾病？

How the heart works

【病因】
§  心脏是怎样工作的

   心脏分为四个中空的心腔，左右各2个，各有分工。心脏干活儿（泵血）时，右心把血液经肺动脉运输到肺部；在肺内，血液进行气体交换（吸入肺泡的氧气混进血液，血液中的二氧化碳进入肺泡呼出体外）；随后血液经肺静脉流入左心；最后左心将血液经主动脉泵向全身。

   (点击 这里 观看一段关于上文的视频, 视频下方有英文字幕哦)

A baby's heart starts beating just 22 days after conception. At that point, the heart has a simple tube shape. Between days 22 and 24, the heart begins to bend to the right and fold in on itself to form a loop. By 28 days after conception, the tube has a vaguely heart-like shape with structures corresponding to the heart's two sides and the large blood vessels that carry blood in and out of them.

§   先心病是怎么来的
   宝宝的心脏从受孕22天起就开始跳动了，此时的心脏形似一根管子（原始心管）。在第22天-24天内，它向右扭成环。到第4周末，心管已初具心形，认得出对应于左右心和大血管的区域；原始血液循环也开始运转。

   此时正是先心病出现的“大好时机”。我们还无法确定究竟是什么导致的先心病，可能性包括：某些病理状态、药物、基因等。

There are many different types of congenital heart defects, falling mainly into these categories:

§  先心病的种类
   先心病有很多种，大致分为以下几类：
 （PS, 我国的分类方法与此不同，欲知详情请点击 这里）

Examples of hole defects include ventricular septal defect, which is a hole in the wall between the right and left ventricles; atrial septal defect, a hole between the upper heart chambers; and patent ductus arteriosus (DUK-tus ahr-teer-e-OH-sus), an opening between the pulmonary artery and the aorta. Soon after birth, the patent ductus arteriosus should close. If it doesn't, oxygen-rich blood intended for the body is directed back to the lungs, meaning your child's brain and the rest of his or her body won't get enough oxygen.

   ● 心脏上的缺损（洞）。这些先心病的心腔壁之间或大血管之间开了不该开的洞，于是动脉血（含氧量高）和静脉血（含氧量低）混合在一起，从而使全身循环（体循环）中血液的含氧量降低——这可以导致皮肤和指甲发青发紫（右向左分流）。孩子还可能出现其他症状如气短、易激惹、肢体水肿等等，这是因为流经肺部的血液量比正常时要多（肺水肿，左向右分流）。
这种类型的先心病主要包括：
   ★室间隔缺损(VSD)：左右心室间的洞，在我国先心病中最为常见.
   ★房间隔缺损(ASD)：左右心房间的洞.
   ★动脉导管未闭(PDA)：肺动脉和主动脉之间的通路。正常情况下，出生后不久这条通路（动脉导管）会自行关闭；否则，在主动脉中本应流向体循环的动脉血会通过动脉导管直接流回肺部，使体循环量减少，孩子的各器官（比如大脑）便得不到足够的氧。 

  ● 血流受阻。此时血管或瓣膜（即血管和心腔中阻挡血流的结构，想象一下水管中的阀门）变得狭窄，于是心脏必须比平时搏动得更费力才能泵出同等量的血液（回想一下欧姆定律，电流不变则电阻越大电压就越大）。久而久之，心肌为了代偿而变得肥大（这和举哑铃→长肌肉是一个道理）。 主要包括：
    ★肺动脉瓣狭窄(PS)：肺动脉瓣（右心室与肺动脉之间的阀门）的狭窄，较常见。
    ★主动脉瓣狭窄(AS)：主动脉瓣（左心室与主动脉之间的阀门）的狭窄。

  ● 血管畸形。此时连接心脏的大血管出现发生（无中生有、或反之）、形状、位置的异常。比如：
    ★大血管移位(TGV)：此时肺动脉和主动脉位置对调（即，肺动脉发自左心，而主动脉则接在右心）。这是一种非常严重、威胁生命的先心病。

  ● 瓣膜畸形。如果瓣膜无法正确地开放与关闭，血液就无法顺利地流动。比如：
      ★埃布斯坦畸形（三尖瓣下移畸形）：三尖瓣（右心房与右心室之间的阀门）出现畸形，使血液出现反流（正常情况下血液只能从心房流向心室）。
      ★肺动脉瓣闭锁(PA)：一块组织挡住了流向肺部的血流。
上面两种先心病都会使肺部血流减少。

  ● 联合畸形。顾名思义，这部分婴儿一出生便同时带有多种心脏畸形。比如：
   ★法洛四联症(TOF,我们更喜欢叫它F4)：同时带有四种缺陷：室间隔缺损、主动脉骑跨(在室间隔缺损上)、右心室流出道（连接右心室和肺动脉之间的通道，包含肺动脉瓣和右心室漏斗部）狭窄、右心室肥厚。

Most congenital heart defects result from problems early in your child's heart development, the cause of which is unknown. However, certain environmental and genetic risk factors may play a role. They include:

【危险因素】绝大多数先心病源自胎心早期发育时的问题，具体为何还不得而知。不过，一些环境因素和遗传因素可能起到一定作用。包括：

Diabetes. Having this chronic condition may interfere with the development of the fetus's heart. You can reduce the risk by carefully controlling your diabetes before attempting to conceive and during pregnancy. Gestational diabetes generally doesn't increase your baby's risk of developing a heart defect.

Heredity. Congenital heart defects appear to run in families and are associated with many genetic syndromes. More than one-third of children with Down syndrome — which is caused by an extra 21st chromosome (trisomy 21) — have heart defects. A missing piece (deletion) of genetic material on chromosome 22 also causes heart defects. Genetic testing can detect such disorders during fetal development. If you already have a child with a congenital heart defect, a genetic counselor can predict the approximate odds that your next child will have one.

  ● 风疹。母亲在妊娠期间染上风疹会影响胎儿心脏的发育。打算怀孕之前，找医生帮忙检查一下你是否具备对风疹的免疫力，若没有可以扎针疫苗。
  ●  (母亲患有)糖尿病  这也会影响胎心的发育。对策是在怀孕前和妊娠期控制好血糖。妊娠糖尿病（妊娠期发现的糖尿病或糖耐量减退,不包括之前已有糖尿病的妊娠者）一般不会增加孩子患先心病的风险。
  ● 药物。已知在怀孕时服用某些药物会导致多种先天缺陷，包括先心病。尝试怀孕前，把所有正在服用的药物写下来咨询医生。与先心病有关的包括：治粉刺的药（如异维甲酸），反应停（一种可以控制妊娠呕吐的镇静药），一些抗癫痫药，等等。怀孕时也要避免饮酒，"胎儿酒精综合征"常可使孩子带有心脏缺陷。
  ● 遗传。先心病可能具有家族聚集性，并与很多遗传疾病有关联。超过三分之一的21三体综合征（即先天愚型，21号染色体多出一条）患儿带有心脏缺陷。22号染色体的部分缺失(22q11)也会导致先心病。基因检测可以帮助妈妈在怀孕时发现这些异常。如果你已经有了（不是说怀了）一个患有先心病的孩子，基因学顾问可以为你估计下一个孩子患有先心病的可能性。

 If your child has a life-threatening heart defect, it will likely be detected soon after birth, or possibly before birth as a part of routine exams during pregnancy.

【去医院前的准备】如果你孩子患有先心病，且严重到威胁生命，它在出生即刻便会被发现，或者在妊娠期间的常规检查中可能就发现了。
   当孩子已经长得比较大了（比如幼儿期或学龄前期），此时你若怀疑他/她先心病，就去找医生谈谈。准备一下如何描述孩子的症状；回想一下家族的遗传病史，因为一部分先心病与遗传有关。医生可能也会询问母亲怀孕时的健康状况以及服用的药物。

Write down any signs and symptoms your child is experiencing, including any that may seem unrelated to heart problems.

§  你要做什么？
  ● 写下所有孩子出现的症状与体征，哪怕你觉得它与心脏问题无关。
  ● 写下所有（孩子的）母亲服过的药物、维生素、补剂。

 Your time with your doctor is limited, so preparing a list of questions helps you make the most of your time together. You might want to ask the following questions:

What kinds of tests does my child need? Do these tests require any special preparation?

What is the best treatment?

How will we monitor for possible complications?

Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting?

§  该问医生什么？
    就诊时间有限，预备一个问题清单会帮助你有效利用这段时间。你可能需要问：

  ● 这些症状与体征与我的家族史有关吗？
  ● 我的孩子需要做哪些检查？这些检查需要什么特殊准备吗？
  ● 孩子需要接受治疗吗？如果是，何时较为合适？
  ● 最佳治疗方案是什么？
  ● 孩子会有长期的并发症吗？我怎样去发现可能出现的并发症？
  ● 我下一胎的孩子患有先心病的可能性有多大？
  ● 有没有指南之类我可以带回家的东东？有推荐给我看的网站吗？

 Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

Can you describe your child's symptoms?

Have the symptoms been continuous or occasional?

Do you have any family history of congenital heart defects?

Has your child been growing and meeting developmental milestones as expected?

§  医生会问什么？
   医生会问你很多问题，提前准备好会帮你节省时间以留给重点。他/她可能会问：
  ● 你最早何时发现孩子的症状的？
  ● 可以详细描述一下孩子的症状吗？这些症状分别出现多久了？是持续性的还是间歇性的？在逐渐变糟吗？
  ● 你的家族中有其他人患有先心病吗？
  ● 有什么可以减轻孩子的症状吗？
  ● 孩子的生长发育照同龄的孩子比正常吗？

 Your child's doctor may initially suspect a problem because he or she hears a heart murmur during a routine exam. A heart murmur is a sound that occurs when blood flows through your child's heart abnormally. Many heart murmurs are innocent, meaning the murmur isn't dangerous to your child's health. Some murmurs, however, may mean blood is flowing through your child's heart abnormally because he or she has a heart defect.

If it's possible your child has a heart defect, your doctor or your child's doctor may order several tests to see if your child has a heart problem. In addition to a regular physical exam, these could include:

【检查&诊断】在常规体格检查中，医生若听到心脏杂音便可能会怀疑孩子的心脏有问题。所谓心脏杂音，就是当血液流经先心病的异常结构时发出的声音。很多心脏杂音是良性的，对孩子的健康无害。然而一部分杂音意味着先心病。
   如果怀疑孩子先心病，医生可能会给他/她做若干检查以明确诊断。除了最初的检体，其他检查还包括：

Echocardiogram. Your child's doctor may use a regular echocardiogram to diagnose a congenital heart defect after your child has been born. In this noninvasive test, your child's doctor performs an ultrasound to produce images of the heart. An echocardiogram allows the doctor to see your child's heart in motion. The doctor can use these images to identify abnormalities in the heart muscle and valves.

Chest X-ray. Your child may have a chest X-ray to see if the heart is enlarged, or if the lungs have extra blood or other fluid in them. These could be signs of heart failure.

Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at your baby's groin or arm and guided through it into the heart. It's not always clear how serious a congenital heart defect is when it's found through echocardiography, but catheterization can give your child's doctor a much more detailed view of your child's heart. And, for certain defects, treatment procedures can be done during cardiac catheterization that will improve the heart's function.

  ● 胎儿超声心动图。可以在孩子出生前发现心脏缺陷。医生通过操纵超声波对母亲腹中的胎儿心脏进行成像，以此确定诊断及治疗方案。
  ● 超声心动图(心脏彩超)。与上类似，只是换做对出生后的孩子直接做心脏超声。医生可以通过它观察心脏的运动，发现心肌、瓣膜的异常。
  ● 心电图。这种无损伤性检查通过记录心脏的电活动 帮助诊断心脏缺陷及心律失常。电极一头贴在孩子的胸壁上，另一头连接电脑和打印机——电信号会被转换为波形，以此了解心脏的跳动情况。
  ● 胸片。通过X片可以发现心脏的扩大，以及肺部是否有额外的血或其它体液（肺纹理&肺野）。
  ● 血气。一个形似别针（或夹子）的感应器会放在孩子的手指上，它能够记录血中的氧含量。后者过低意味着心脏可能有问题。
  ● 心导管检查。一个柔韧的细管子（导管）穿过腹股沟或上臂进入血管，再顺着血管进入心脏。心导管检查比超声提供的信息更详细；某些先心病甚至可以直接以此方法治疗。

 A congenital heart defect may have no long-term effect on your child's health — in some instances, such defects can safely go untreated. Sometimes they aren't even discovered until adulthood.

【治疗&药物】一部分先心病并不会对患儿的健康产生长期影响——他们不经治疗仍可安然无恙，甚至直到成年才发现自己患有先心病。
   另一些则比较严重，需要尽早治疗。根据心脏缺陷的类型，医生可能会提供以下治疗方案：

Open-heart surgery. In some cases, your child's doctor won't be able to fix your child's heart defect using a catheter procedure. In these cases, your child's doctor may perform open-heart surgery to try to repair your child's heart defect. These surgeries are major medical procedures and may require a long recovery time for your child.

Medications. Some mild congenital heart defects, especially those found later in childhood or adulthood, can be treated with medications that help the heart work more efficiently.

  ● 介入术。一些类型的先心病可以通过导管术来治疗而无需开胸手术。如前所述，医生在X线图像的指引下将导管穿过静脉（最常用的是股静脉）送进心脏。当导管到达预定位置后，精细的小东东通过导管内部被旋进心脏，修补缺损。
  ● 心脏直视手术。对一些先心病，医生无法通过导管来治疗，此时可能会进行心脏直视手术以尝试修复缺陷。这是个大手术，孩子需要很长一段时间来恢复。
  ● 心脏移植。如果病情严重，且无法通过上面两种方法医治，心脏移植可能会是个选择。
  ● 药物。一些较轻的先心病，尤其是那些比较晚才发现的，可以通过药物来提高心脏的工作效率。

Some children with congenital heart defects require multiple procedures and surgeries throughout life. Although the outcomes for children with heart defects have improved dramatically, most people, except those with very simple defects, will require ongoing care, even after corrective surgery.

§  长期治疗
     一些患有先心病的孩子在一生中需要多重治疗过程、多次手术。虽然儿童先心病的预后照以往已有很大改善，但绝大多数患者（除了那些极轻微者）仍需要持续治疗，哪怕已经经过手术矫正。

Exercise restrictions. Parents of children with congenital heart defects may worry about the risks of rough play and activity even after treatment. Although some children may need to limit the amount or type of exercise, many can participate in normal or near-normal activity. Your child's doctor can tell you which activities are safe for your child. If some activities do pose distinct dangers, encourage your child to participate in other activities instead of focusing on what he or she can't do. Although every child is different, most children with congenital heart defects grow up to lead healthy, productive lives.

  ● 终生监测和治疗。即使先心病已经过手术治疗，孩子仍需要儿科心脏病（小儿循环科）专家来监测身体状况，长大后则需要成人心血管医生。先心病会影响孩子的成年生活，并可能导致一些其它健康问题。随着孩子长大，要提醒他/她曾有过心脏缺陷（虽然已被治愈），以及持续监测的重要性。鼓励孩子与医生探讨自己的先心病，以及治疗过程。
  ● 运动限制。即便孩子的先心病已经过治疗，当家长看见孩子运动时可能依然很担心。事实上很多先心病孩子是可以参加正常或是接近正常的体育活动的，不过一部分孩子的确需要限制运动量和运动类型。医生会告诉你，哪些运动对你的孩子来说是安全的。如果孩子迷上了对他/她而言确实有风险的运动，鼓励孩子去玩别的。虽说每个孩子各不相同，绝大多数患有先心病的孩子都会拥有一个多姿多彩的人生。
   ● 预防感染。根据先心病的类型，以及手术的需要，孩子可能需要一些额外的措施来预防感染。先心病的孩子容易患感染性心内膜炎（IE，一种会影响心内膜和瓣膜的细菌感染），所以在接受手术或拔牙之前需要服用抗生素来预防IE。植入的瓣膜也会比人体本身的更易诱发感染。去向医生咨询，你的孩子是否需要预防性服用抗生素。

It's natural for many parents to feel worried about their child's health, even after treatment of a congenital heart defect. Although many children who have congenital heart defects can do the same things children without heart defects can, here are a few things to keep in mind if your child has had a congenital heart defect:

Developmental difficulties. Because some children who have congenital heart defects may have had a long recovery time from surgeries or procedures, they may developmentally lag behind other children their age. Some children's difficulties may last into their school years, and they may have difficulties learning to read or write, as well. Talk to your child's doctor about ways to help your child through his or her developmental difficulties.
Emotional difficulties. Many children who have developmental difficulties may feel insecure about their abilities and may have emotional difficulties as they reach school age. Talk to your child's doctor about ways you can help your child cope with these problems, which may include support groups for parents, or a visit to a therapist or psychologist for your child.
Support groups. Having a child with a serious medical problem isn't easy and, depending on the severity of the defect, may be very difficult and frightening. You may find that talking with other parents who've been through the same situation brings you comfort and encouragement. Ask your child's doctor if there are any local support groups. In the United States, call Mended Little Hearts at 888-HEART99 (888-432-7899) to find out if there's a support group in your area.

【应对和支持】家长们担心先心病孩子的健康是很正常的，即便孩子已经接受了治疗。虽然很多先心病的孩子可以在很多方面做得和正常孩子一样好，但还是有一些事情是需要家长想着的：

  ● 发育问题。因为先心病孩子可能需要很长时间从治疗措施中恢复，他们的发育可能会落后于同龄孩子。一些先心病患儿的难题可能会持续到学龄，比如在读写方面的困难。与医生探讨如何帮助孩子渡过难关。
  ● 情绪问题。很多发育异常的孩子对自身能力怀有不安全感，或是在上学后产生心理问题。与医生探讨如何帮助孩子面对以上问题，比如参加针对家长的团队支持，带孩子去看心理医生，等等。
  ● 团队支持。孩子有先心病，这对家长来说并不轻松，甚至可能会感到很困难很恐惧（这取决于孩子的病情）。与其他相同处境的家长们交流会让你获得安慰与鼓励。问问医生附近有没有这样的团队。在美国境内，拨打Mended Little Hearts的热线电话(888-432-7899)询问自己所在地区是否有这样的组织。

【预防】因为绝大多数先心病的确切病因还不得而知，要100%预防是不可能的。不过，你可以做一些事来减少孩子先天缺陷的概率，这也就涵盖了先心病。

  ● 打风疹疫苗。如前所述，妊娠期得风疹会影响胎儿心脏的发育。怀孕之前扎疫苗很有希望消除这个风险。
  ● 控制慢性疾病。如果你有糖尿病，控制好血糖；如果患有其它一些需要服药的疾病，如癫痫等，向医生咨询服药的收益与风险。
  ● 远离有害物质。比如重口味的油漆和洗涤剂。另外，服用任何草药、补剂、药物前都要先咨询医生。
  ● 服用含有叶酸的复合维生素。已证实每天摄入400微克叶酸会减少神经系统的先天缺陷，或许它也能驱逐先心病。

祝健康！