Congenital heart disease

Causes of congenital heart disease

To understand how congenital heart disease can affect your child’s heart and general health, it’s useful to first understand how a healthy heart works.

Find out how your heart works, on the British Heart Foundation website.

Congenital heart disease develops when abnormalities in the heart’s structure prevent it from working as it should.

The 2 main types of congenital heart disease are:

• cyanotic heart disease
• acyanotic heart disease

Common types of acyanotic heart disease

Ventricular septal defect (VSD)

Ventricular septal defect (VSD) is a very common cause of acyanotic heart disease. In cases of VSD, there is a hole between the left and right ventricle.

As blood pressure is higher on the left-hand side of the heart, blood is pushed through the hole and into the right ventricle.

The heart then has to work harder to pump the excess blood out of the right ventricle, which can put a strain on the heart. The excess level and pressure of the blood can also increase the blood pressure in the lungs and damage them (pulmonary hypertension).

Atrial septal defect (ASD)

Atrial septal defect (ASD) is a similar type of defect to VSD, but the hole is between the left and right atria rather than the ventricles.

ASD can place extra strain on the heart, and potentially damage the lungs.

When referring to a ‘hole in the heart’, healthcare professionals are usually referring to either VSD or ASD.

Find out more about ASD on the British Heart Foundation website

Pulmonary stenosis

In pulmonary stenosis, the pulmonary valve in the right side of the heart is unusually narrow meaning that the heart has to work harder to pump blood into the lungs, which can put a strain on the heart.

Aortic stenosis

In aortic stenosis, the aortic valve in the left side of the heart is unusually narrow, which means that the heart has to work harder to pump blood through the valve.

Because the aortic valve is the main route for oxygen-rich blood to supply the body, the narrowing can lower the body’s oxygen supply, which can cause symptoms of breathlessness and dizziness.

Patent ductus ateriosus (PDA)

Patent ductus ateriosus (PDA) is a duct or passage in the heart that is meant to close shortly after birth.

When an unborn baby is in the womb, there is no need for the baby’s heart to send blood to the lungs because the baby is getting all the oxygen it needs from the mother through the placenta.

Therefore, the ductus ateriosus acts as a bypass, meaning that the blood can flow back into the heart without entering the lungs.

Shortly after birth, the duct should close as the baby begins to breathe normally. However, in cases of PDA, the duct fails to completely close, which means that some oxygen-rich blood that is meant to be pumped away from the lungs leaks back through the duct and back into the lungs.

This can place strain on the heart and the lungs because they have to work harder to compensate for the problems caused by the duct.

Many cases of patent ductus ateriosus (PDA) can be treated shortly after birth, using medication.

Two types of medication – indomethacin and a special type of ibuprofen – have been shown to effectively stimulate the closure of the duct that is responsible for PDA.

If a PDA does not respond to medication, a catheter can be used to seal the duct with a metal coil or plug.

Common types of cyanotic heart disease

Tetralogy of Fallot (TOF)

Tetralogy of Fallot (TOF) is the most common cause of cyanotic heart disease. TOF is not one heart defect but a combination of four different heart defects. Tetralogy is a Greek word that means ‘four-fold’, and Fallot is the name of the doctor who first identified the condition.

In cases of TOF, there are four defects that affect the heart:

• A hole between the left and right ventricle (Ventricular Septal Defect).
• A narrowing of the pulmonary valve (pulmonary stenosis).
• The muscles of the right ventricle are unusually thick (right ventricular hypertrophy).
• The aorta sits over both the left and right ventricles, instead of just the left ventricle in a normal heart (overriding aorta).

As a result of this complex set of heart defects, oxygen-rich blood and oxygen-low blood become mixed. This leads to blood with lower-than-normal oxygen content being pumped around the body.

As the body’s cells and tissue are not receiving enough oxygen, the child will develop symptoms of cyanotic heart disease.

Find out more about TOF on the British Heart Foundation website

Babies born with Tetralogy of Fallot (TOF) who are experiencing severe symptoms of breathlessness may require emergency surgery such as a Blalock-Taussig shunt (a BT shunt).

During a BT shunt, an artery is diverted (or shunted) into the lungs so that a supply of oxygen-rich blood becomes available. Further open-heart surgery is then recommended when the baby is old enough to withstand the after-effects of surgery. During open-heart surgery, the defect between the ventricles is sealed and the pulmonary valve is widened.

Transposition of the great arteries (TGA)

Transposition of the great arteries (TGA) is a major cause of cyanotic heart disease.

In cases of TGA, the pulmonary artery is attached to the left side of the heart, and the aorta is attached to the right side of the heart. This leads to oxygen-low blood, which should be pumped into the lungs, being pumped around the body, causing symptoms of cyanotic heart disease.

Find out more about TGA on the British Heart Foundation website

Transposition of the great arteries (TGA) will require open-heart surgery, which is usually done shortly after your baby is born.

A surgical technique, known as an arterial switch, is usually used to treat cases of TGA. During an arterial switch, the affected arteries are cut and reattached to their correct position on the other side of the heart.

Risk factors for congenital heart disease

In many cases of congenital heart disease, there is no clear reason why a baby is born with a defective heart.

The known risk factors for congenital heart disease are listed below.

Maternal diabetes

Women with diabetes are five times more likely to give birth to a baby with congenital heart disease compared with women who do not have diabetes.

It is estimated that out of every 100 pregnancies in women with diabetes, three to four will result in the birth of a baby with a heart defect.

The increased risk is thought to be due to the high levels of insulin in the blood, which may interfere with the development of the foetus.

Rubella

The viral infection rubella (also known as German measles) is a major risk factor for congenital heart disease if a woman contracts an infection during early pregnancy.

If a woman contracts the viral infection rubella (also known as German measles) during the first 12 weeks of pregnancy, there is an 80% chance that her baby will be born with a birth defect, such as congenital heart disease.

Maternal alcohol abuse

Mothers who exceed the recommended daily alcohol intake during pregnancy have an increased risk of their baby being born with congenital heart disease.

Alcohol is best avoided during pregnancy; however no more than 2-3 units should be consumed on a daily basis for any adult.

Genetic conditions

There are a number of genetic conditions (health conditions that a baby inherits from one or both parents) that can cause congenital heart disease.

Down’s syndrome is the most widely known genetic condition that can cause congenital heart disease. Down’s syndrome is a condition where children are born with a range of disabilities as the result of a genetic abnormality. Approximately half of children with Down’s syndrome will have congenital heart disease.

Other genetic conditions linked to congenital heart disease include:

• Turner syndrome
• Noonan syndrome

An increasing number of congenital heart disease cases are now picked up before birth, through a foetal echocardiograph.

A foetal echocardiograph uses a type of ultrasound scanner that has been specially designed to build a picture of the unborn baby's heart. It is usually carried out as part of routine antenatal check-ups, sometime between the 18th and 20th week of pregnancy.

It is not always possible to detect heart defects, particularly mild ones, using a foetal echocardiograph.

Diagnosis after birth

If a baby is born with cyanotic heart disease, doctors can usually make a diagnosis quickly and confidently, because of the distinctive blue tinge to the skin.

If your baby is born with acyanotic heart disease, symptoms may not become obvious until several months, or even years, after birth.

Possible signs that your child may have cyanotic heart disease include:

• problems feeding
• slow growth
• shortness of breath after exercise
• tiredness after exercise
• swelling of the hands, feet and ankles

You should contact your doctor if your child has any of these symptoms. Further tests can then confirm, or rule out, a diagnosis of congenital heart disease.

Further testing

Echocardiogram

An echocardiogram may be used to check your child's heart. Sometimes, problems with the heart that were missed on a foetal echocardiogram can be picked up later, as the child grows. You can find out more about an echocardiogram on the British Heart Foundation website.

Electrocardiogram (ECG)

An electrocardiogram, or ECG, is a test that measures the electrical activity of your child's heart. Electrodes are placed on the skin of the chest, arms and legs, and connected to an ECG machine. The machine reads the electrical signals from the heart to assess its rhythm. You can find out more about an ECG on the British Heart Foundation website.

Chest X-ray

A chest X-ray of the heart and lungs can show whether there are any abnormalities in the lungs, or whether the heart is larger than it should be. Both of these can point to congenital heart disease. You can find out more about a chest X-ray on the British Heart Foundation website.

Pulse oximetry

Pulse oximetry is a test that measures how much oxygen is present in the blood.

For this test, a special sensor is placed on your child's fingertip, ear or toe. The sensor gives out light waves, and a computer connected to it measures how these light waves are absorbed, giving a percentage reading.

A healthy person should have a reading of 94 percent or above. People with cyanotic heart defects commonly have readings below this.

Cardiac catheterisation

Cardiac catheterisation is a useful way of finding out exactly how blood is moving through your child's heart.

During the procedure, a small, flexible tube called a catheter is inserted into one of your child's blood vessels, usually in the groin or arm. The tube is guided up into the heart with the help of X-rays.

A contrast dye that shows up on X-rays can then be injected through the tube. Doctors can watch the dye move through the heart to see how well each chamber is working, and blood pressure readings can also be taken in different parts of the heart. Together, this information helps guide diagnosis and treatment planning.

Cardiac catheterisation is usually carried out under local anaesthetic, and is a relatively painless procedure.

Treating congenital heart disease

There are a number of different surgical techniques that can be used to treat congenital heart disease. Some of these are explained below.

Catheters

A catheter, similar to the tube that is used during diagnosis, is inserted into the heart and tools are passed down the catheter to repair the heart defects.

The advantage of this type of surgery is that it’s minimally invasive, which means that your child will not have to have open heart surgery.

Open heart surgery

For more serious types of heart defects, it may be necessary to operate directly on the heart.

During open heart surgery, the heart may be stopped and a machine used to pump blood around your child’s body (bypass machine). An incision is made in your child’s chest so that the heart defects can be surgically repaired, or damaged parts of the heart, such as the valves, can be replaced.

Heart transplant

In more serious cases of congenital heart disease, the heart may be too damaged, and the child too ill, for corrective surgery to be safely carried out. In this circumstance, their heart may have to be replaced with a donated heart.

If your child requires a heart transplant, their details will be placed on the National Transplant Database (NTD). Depending on the condition of your child’s heart, it may be necessary to keep them in hospital in order to support the function of their heart until a donated heart becomes available. Machines, such as the ventricle assist device (VAD), act like an external mechanical heart, and can assist in pumping blood around the body.

Priority for heart transplants is based on clinical need, rather than on a first-come-first-served basis. If your child is in a very unstable condition, they will be prioritised whereas more stable children will have to wait for a longer period of time.

Once a donated heart of the right size and blood group becomes available, you will be contacted by the transplant team and asked to go to the transplant unit as soon as possible. You may be given a bleeper so that you can be contacted as soon as possible.

Find out more about heart transplantation on the British Heart Foundation website.

Treatment for common types of congenital heart disease

Specific treatments for the most common types of congenital heart disease are described below.

Septal defects

If your child is diagnosed with a ventricular septal defect (VSD) or an atrial septal defect (ASD), the recommended treatment will depend on the size of the defect.

If the defect is small, a policy of ‘watchful waiting’ may be recommended, where your child receives no immediate treatment but their health is carefully monitored. This is because 90% of small defects will close as the child grows older.

In cases of mild to medium-sized defects, it may be possible to seal the defect using a catheter. The catheter is guided to the site of the hole, and a specially designed mesh is passed through the catheter to seal the defect.

In cases of medium to large-sized defects, open-heart surgery may be required. This involves a patch being stitched directly over the defect.

Stenosis

If your child is diagnosed with a stenosis (a narrowing one of their valves) the treatment that is recommended will depend on the extent of the stenosis and if they are symptomatic.

In mild cases, a policy of ‘watchful waiting’ may be recommended. Medication that lowers blood pressure may also be recommended to reduce the strain on your child’s heart and lungs.

In more serious cases of stenosis, a catheter can be used to widen the valve. A small balloon is passed up through the catheter and then inflated to widen the affected valve. This is known as a balloon angioplasty. Once the valve has been widened, the balloon is removed. Sometimes, a metal coil (stent) is used to keep the valve widened.

In more serious cases of stenosis, it’s sometimes necessary to replace the valve using open heart surgery. Replacement valves can be obtained from human donors, or made from artificial materials, such as titanium, or taken from pigs and modified for human use. Pigs are used because their hearts are the most similar to the human heart.

For people who are too ill or weak to withstand the effects of open heart surgery, a catheter approach can be used. The catheter is passed through a blood vessel in the groin and up into the heart. A replacement valve is passed through the catheter and into position.

Congenital heart disease in adulthood

About 80% of children with congenital heart disease will survive into adulthood. Living as an adult with congenital heart disease involves a new set of challenges. Some adults will require specialised care.

Routine medical procedures, such as giving birth or having a general anaesthetic, will need to be closely supervised by specialist staff with experience in treating adults with congenital heart disease. There is also the risk that previous heart surgery, such as the insertion of a replacement valve, will fail and that further surgery will be required.

Due to these factors, it’s recommended that older teenagers register with a specialised adult congenital heart disease clinic. The clinic will be able to provide regular check-ups and assessments, liaise with other specialised medical services as required, and provide on-going support and advice.

Your GP or treatment team can give you more information about services in your area for adults with congenital heart disease.

জন্মগত হৃদরোগের ভবিষ্যৎ কেমন হবে, তা নির্ভর করে শিশুটি কোন ধরনের ও কতটা গুরুতর ত্রুটি নিয়ে জন্মেছে তার ওপর।

কারণ নিয়ে চলমান গবেষণা ও উন্নততর চিকিৎসার কল্যাণে জন্মগত হৃদরোগে আক্রান্ত শিশুদের প্রায় 80% এখন প্রাপ্তবয়স্ক হওয়া পর্যন্ত বেঁচে থাকে।

এতে স্বাস্থ্যসেবা ব্যবস্থার সামনে নতুন চ্যালেঞ্জ তৈরি হয়েছে, কারণ এই প্রাপ্তবয়স্কদের কারও কারও স্বাস্থ্যগত চাহিদা জটিল এবং সারা জীবন তাঁদের বিশেষায়িত যত্নের প্রয়োজন হয়। এ বিষয়টি মোকাবিলায় স্বাস্থ্য অধিদপ্তর (Department of Health) জন্মগত হৃদরোগে আক্রান্ত প্রাপ্তবয়স্কদের সেবার জন্য বিশেষায়িত কেন্দ্র গড়ে তোলার সুপারিশ করেছে।

প্রাপ্তবয়স্কদের জন্মগত হৃদরোগকে কখনও কখনও "গ্রোন-আপ কনজেনিটাল হার্ট ডিজিজ" (GUCH) বা অ্যাডাল্ট কনজেনিটাল হার্ট ডিজিজ (ACHD) বলা হয়।

জন্মগত হৃদরোগের জটিলতা

জন্মগত হৃদরোগে আক্রান্ত অনেক শিশুর বিকাশে দেরি হয় এবং হাঁটা বা কথা বলার মতো কিছু নির্দিষ্ট ধাপে পৌঁছাতে তাদের বেশি সময় লাগতে পারে।

জন্মগত হৃদরোগে আক্রান্ত কিছু শিশুর শেখার ক্ষেত্রেও অসুবিধা থাকে, আর তাদের বিশেষায়িত শিক্ষাগত ও মনস্তাত্ত্বিক সহায়তার প্রয়োজন হয়।

আপনার সন্তানের জন্মগত হৃদরোগ থাকলে আপনার স্থানীয় শিক্ষা কর্তৃপক্ষের উচিত তার জন্য একটি ব্যক্তিগত শিক্ষা পরিকল্পনা (Individual Education Plan বা IEP) তৈরি করা। IEP-তে আপনার সন্তানের বর্তমান ও ভবিষ্যৎ চাহিদা মূল্যায়ন করা হয় এবং তার যেসব বিশেষায়িত সেবা দরকার, যেমন স্পিচ অ্যান্ড ল্যাঙ্গুয়েজ থেরাপি বা শিক্ষা-মনোবিজ্ঞানীর সহায়তা, সেগুলো পাওয়ার সুযোগ করে দেওয়া হয়।

আপনার সন্তানের জন্য কতটা শারীরিক পরিশ্রম নিরাপদ, IEP-তে সেটিও বিবেচনায় রাখা হয়। জন্মগত হৃদরোগে আক্রান্ত শিশুদের যতটা সম্ভব সক্রিয় থাকতে উৎসাহ দেওয়া উচিত, তবে কিছু কিছু কাজ, যেমন ধাক্কাধাক্কির খেলা (কনট্যাক্ট স্পোর্টস), এড়িয়ে চলার দরকার হতে পারে।

এন্ডোকার্ডাইটিস

জন্মগত হৃদরোগে আক্রান্ত শিশু ও প্রাপ্তবয়স্ক, উভয়েরই এন্ডোকার্ডাইটিস হওয়ার ঝুঁকি বেশি।

এন্ডোকার্ডাইটিস হলো হৃৎপিণ্ডের ভেতরের আবরণের সংক্রমণ। চিকিৎসা না করালে এটি প্রাণঘাতী হতে পারে, কারণ এতে হৃৎপিণ্ডের ভালভ ক্ষতিগ্রস্ত হয়।

এন্ডোকার্ডাইটিসের লক্ষণগুলোর মধ্যে রয়েছে:

• জ্বর
• কাঁপুনি
• ঘাম হওয়া (রাতে ঘাম হওয়াসহ)
• মাংসপেশিতে ব্যথা ও যন্ত্রণা
• বুকে ব্যথা
• কাশি
• দুর্বলতা ও ক্লান্তি
• মাথাব্যথা
• শ্বাসকষ্ট

এন্ডোকার্ডাইটিসের চিকিৎসা করতে হয় অ্যান্টিবায়োটিক ইনজেকশন (শিরায় দেওয়া অ্যান্টিবায়োটিক) দিয়ে, যার মানে সাধারণত কয়েক সপ্তাহ হাসপাতালে থাকতে হয়।

এন্ডোকার্ডাইটিস সাধারণত তখনই হয়, যখন শরীরের অন্য কোথাও, যেমন ত্বকে বা মাড়িতে, থাকা কোনো সংক্রমণ রক্তপ্রবাহের মাধ্যমে ছড়িয়ে হৃৎপিণ্ডে পৌঁছায়।

মাড়ির রোগ থেকে এন্ডোকার্ডাইটিস হতে পারে বলে আপনার জন্মগত হৃদরোগ থাকলে মুখের চমৎকার পরিচ্ছন্নতা বজায় রাখা খুবই জরুরি।

এ ছাড়া সাধারণভাবে পরামর্শ দেওয়া হয় যে, ত্বক ছিদ্র করতে হয় এমন যেকোনো সৌন্দর্যবর্ধক কাজ, যেমন ট্যাটু বা শরীর ছিদ্র করে অলংকার পরা (বডি পিয়ার্সিং), আপনি এড়িয়ে চলবেন।