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Congenital Heart Disease

  • What is congenital heart disease?

    Congenital heart disease

    Congenital heart disease (CHD) refers to heart defects that affect the structure of the heart present at birth. The severity of the disease ranges from mild defects such as a small hole in the heart, to severe and life-threatening conditions in which the heart is missing certain parts.

    As a result, CHD can affect how blood flows through the heart. Depending on the type and severity of CHD, symptoms range from sleepiness or tiredness to difficulty breathing or blue-tinted nails and lips that point to insufficient oxygen supply.

    In Singapore, according to the birth defect registry, from 1994 − 2000, congenital heart disease was a factor in 0.81% of total live births. Nationwide, there are about 12,000 adults living with congenital heart disease. With an average of 37,000 – 40,000 babies born each year, it is estimated that the number of adult cases will increase by 300 – 320 every year.

    What are the types of congenital heart defects?

    There are many types of congenital heart diseases including:

    • Atrial septal defect 

      Atrial septal defect refers to a hole in the wall separating the two upper atriums or chambers of the heart that can damage blood vessels in the lungs. If it does not close on its own, surgery may be required. Left untreated, it can cause problems in adulthood such as high blood pressure in the lungs, abnormal heartbeat, increased risk of stroke and heart failure.
    • Ventricular septal defect

      Ventricular septal defect refers to a hole in the heart, a common congenital defect in the wall (septum) separating the lower chambers of the heart (ventricles). This hole redirects oxygen-rich blood to pass from the left to the right side of the heart, sending it back to the lungs instead of distributing it to the rest of the body.
    • Coarctation of the aorta

      Coarctation of the aorta is a condition where part of the aorta is narrower than usual, which occurs because it did not form or develop normally during pregnancy. It is a critical congenital heart defect and if the narrowing is severe, the surgery may be necessary soon after birth.
    • Fallot's tetralogy or tetralogy of Fallot

      Fallot's tetralogy or tetralogy of Fallot comprises of 4 defects of the heart and its blood vessels:
      • a hole in the wall between the two lower chambers or ventricles (also known as a ventricular septal defect)
      • narrowing of the pulmonary valve and main pulmonary artery (known as pulmonary or aortic stenosis)
      • enlarged aortic valve with both ventricles opening into it
      • thicker than normal muscular wall of the right ventricle (also known as ventricular hypertrophy)
    • Patent ductus arteriosus

      Patent ductus arteriosus (PDA) refers to an opening between the two major vessels leading from the heart. The opening is normal before birth and usually closes on its own after birth. It is only known as PDA if it remains open. A small opening may not require treatment but large openings allow poorly oxygenated blood to flow in the wrong direction. This weakens the heart muscle and can lead to complications and heart failure.
    • Pulmonary atresia

      Pulmonary atresia is a condition in which blood is unable to flow from the right ventricle of the heart to the lungs, because the pulmonary valve did not form at all (the pulmonary valve controls the flow of blood from the right ventricle to the main pulmonary artery). It is a critical congenital heart defect that may require surgery soon after birth.
    • Pulmonary or aortic stenosis

      Pulmonary or aortic stenosis is the narrowing of the pulmonary valve and main pulmonary artery. It is one of the four defects categorised under tetralogy of Fallot.
    • Transposition of the great arteries

      Transposition of the great arteries is a rare defect in which the two main arteries leaving the heart are reversed. This changes the way blood circulates through the body, as the blood travelling from the heart to the rest of the body is low in oxygen. It is a critical congenital heart defect.
  • The causes for congenital heart diseases are mostly unknown. Several risk factors have been linked to the development of congenital heart disease and they include chromosomal abnormalities, genetic defects and environmental factor.

    These are some of the genetic conditions which put you at higher risk of having a baby with congenital heart disease:

    • Down Syndrome

      Children with Down Syndrome are 50% more likely to develop congenital heart defects.
    • DiGeorge Syndrome

      Caused by a missing part of chromosome 22, DiGeorge Syndrome is also known as 22q11.2 deletion syndrome. It is associated with many medical problems, including heart defects.
    • Marfan Syndrome

      Marfan Syndrome is caused by an abnormal gene that affects the connective tissues in the body and can lead to many health problems including heart problems such as mitral valve prolapse.
    • Turner Syndrome

      A chromosomal abnormality caused by the absence of the second X chromosome, Turner Syndrome can affect any organ, including the heart.

    Exposure to certain substances during the first few weeks of pregnancy, when the baby’s heart is forming, can increase the risk of the baby developing a congenital heart disease. Some of the environmental risk factors that can lead to congenital heart disease include:

    • Excessive drug or alcohol consumption during pregnancy
    • Certain medications, such as isotretinoin which is used to treat acne or lithium for depression or bipolar disorder
    • Exposure to chemicals such as arsenic, cadmium and organic solvents
    • Viral infections such as rubella which leads to a very high chance of having a baby with congenital heart disease.
    • Diabetes, especially if diabetes is uncontrolled
    • Smoking during pregnancy increases the risk of pregnancy complications, birth defects, and miscarriage.

    Preventing congenital heart disease

    There is no guaranteed way to prevent the development of congenital heart diseases. However, pregnant woman can reduce the risk by avoiding the known risk factors and following these suggestions:

    • Get vaccinated against rubella and influenza
    • Avoid drinking alcohol
    • Do not smoke
    • Speak to your doctor before taking any medications, supplements or herbal remedies
    • Take 400mg folic acid per day during the first trimester to help prevent birth defects
    • Avoid contact with people who are unwell
    • If you have diabetes, ensure it is well-controlled
    • Avoid exposure to chemicals such as organic solvents, which are commonly found in dry-cleaning, paint thinner and nail polish remover
  • Many congenital heart defects result in no symptoms. When the congenital heart disease symptoms are severe or if multiple heart defects are present, especially in newborns, the following symptoms may occur:

    • Blue skin, lips and fingernails
    • Chest pain
    • Fainting
    • Heart murmur
    • Palpitation (fast, strong or irregular heartbeats)
    • Poor blood circulation
    • Rapid breathing
    • Tiredness
    • Failure to thrive (grow) in newborns or infants
  • A heart murmur can be detected using a stethoscope which may indicate abnormal blood flow. To diagnose a congenital heart defect, one or more tests may be recommended. These include:

    • Foetal echocardiogram

      Performed before the baby’s birth, this is an ultrasound, in which sound waves are used to create a picture of the baby's heart.
    • Echocardiogram

      A regular echocardiogram, performed after birth, allows the doctor to see the baby’s heart in motion and identify abnormalities in the heart muscle and valves.
    • Electrocardiogram

      In this test, electrodes are placed on the baby's chest and are connected to a computer, recording the electrical activity of the baby’s heart as waves. This can reveal abnormalities in rhythm.
    • Chest X-ray

      A chest X-ray can reveal if the heart is enlarged, or if the lungs have extra blood or other fluid in them, which could be signs of heart failure.
    • Pulse oximetry

      This test measures how much oxygen is in your child's blood, using a sensor placed over the end of the baby’s finger. Too little oxygen could suggest a heart problem.
    • Cardiac catheterisation

      A thin, flexible tube (catheter) is inserted into a blood vessel at the baby's groin and guided through it into the heart for a detailed view of the suspected heart defect.
    • Cardiovascular magnetic resonance imaging (MRI)

      This provides faster imaging and higher resolution than other methods, such as echocardiography.
  • Transcatheter procedures may be used to treat congenital heart disease. These are minimally invasive procedures that are commonly performed using a catheter (small tube). This includes the delivery of an intravascular device like a balloon, a coil or a stent to help dilate (widen) or close (device closure) existing cardiovascular defects.

    Transcatheter procedures

    Types of transcatheter procedures include:

    • Balloon angioplasty or balloon dilation

      Balloon angioplasty or balloon dilation is a procedure that allows the widening of narrowed blood vessels to improve blood flow within the heart.
    • Balloon atrial septostomy

      Balloon atrial septostomy, which is used to treat some congenital heart defects and can be performed in foetuses or infants. It is usually a technique that widens the hole between the right and left side of the heart.
    • Balloon valvuloplasty

      Balloon valvuloplasty, which is recommended for patients with narrowed valves. A tiny balloon catheter is directed to the target valve and is inflated and deflated several times until the valve opening is widened sufficiently.
    • Device closure of patent ductus arteriosus

      Device closure of a condition called patent ductus arteriosus (PDA) is performed when a baby’s ductus arteriosus (artery normally present in all foetuses) is not completely closed after birth. A device is inserted through the blood vessels in the groin to close this gap.
    • Device closure of an atrial septic defect

      Device closure of an atrial septic defect (ASD), a congenital heart defect between the upper 2 chambers of the heart. Device closure is done with an occluder (separator) inserted to divide the 2 chambers so the heart can resume its normal function.

    Surgery

    • Surgical repair of atrial septal defect and ventricular septal defect

    • Bidirectional cavopulmonary shunt

      A bidirectional cavopulmonary (Glenn) shunt is a commonly performed procedure for a variety of cyanotic congenital heart diseases that lead eventually to a single ventricle repair.
    • Fontan procedure

      Fontan procedure, a form of open-heart surgery, aims to redirect blood from the lower part of the body directly to the lungs. This allows oxygenation of the blood without having to pass through the heart.
    • Ligation of patent ductus arteriosus

      Ligation of patent ductus arteriosus is the closing of the small blood vessel between the aorta and pulmonary artery. A surgeon can either tie it off, clip it or divide and cut it in order to close the hole.
    • Modified Blalock-Taussig Shunt

      Modified blalock-taussig shunt (MBTS) is performed on new-borns using a shunt to create a connection between the systemic arterial system and the pulmonary arterial system. This allows blood from the aorta to reach the lungs.
    • Norwood procedure

      Norwood procedure is a form of open-heart surgery to build a new aorta and ensuring the right ventricle is able to pump blood to the body through the new aorta.
    • Pulmonary artery band

      Pulmonary artery band (PAB) is a surgical technique used to reduce pulmonary over-circulation in certain congenital heart defects.
    • Rastelli procedure

      Rastelli procedure involves implantation of a conduit, allowing the left ventricle to perform the task of pumping blood to the body.
    • Ross procedure

      Ross procedure is a surgery to repair an abnormal aortic valve, replacing it with a pulmonary valve.

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  • Congenital heart diseases can lead to life-long complications and related conditions. These include:

    • Heart failure and stroke
    • Complications related to pregnancies, use of contraception and risk of cardiac disease in the offspring.
    • Swelling of the inner layers of the heart, known as endocarditis, which is an infection of the inner lining of the heart chambers and valves. Left untreated, it can damage the heart valves and lead to serious complications.
    • Cardiovascular diseases such as irregular heartbeat (arrhythmias), pulmonary hypertension, stroke and heart failure.
    • Managing of resulting non-cardiac medical problems.
    • Social, emotional, financial, employment and educational issues.
    • Surgical procedure complication and life-long follow-up.
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    • Agasthian T

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      Mount Elizabeth Medical Centre
      Singapore 228510
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      Mount Elizabeth Novena Specialist Centre
      Singapore 329563
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      Livingstone Cardiology Pte Ltd
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      Mount Elizabeth Medical Centre
      Singapore 228510
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    • Chan Wan Xian

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      Asian Heart & Vascular Centre
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      38 Irrawaddy Road #08-58 to 61 and #10-54 to 55
      Mount Elizabeth Novena Specialist Centre
      Singapore 329563
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      Mount Elizabeth Medical Centre
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      Mount Elizabeth Medical Centre
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      Alfred Cheng Cardiac Care Pte Ltd
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    • Chew Christopher

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      International Heart Clinic Pte Ltd
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    • Chia Stanley

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      Clinic:
      Asian Heart & Vascular Centre
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      38 Irrawaddy Road #08-58 to 61 and #10-54 to 55
      Mount Elizabeth Novena Specialist Centre
      Singapore 329563
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    • Chow Hui Jeremy

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      Clinic:
      Asian Heart & Vascular Centre
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      38 Irrawaddy Road #08-58 to 61 and #10-54 to 55
      Mount Elizabeth Novena Specialist Centre
      Singapore 329563
      Contact No:
      6339 3638
      Clinic:
      Asian Heart & Vascular Centre Pte Ltd
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      3 Mount Elizabeth #17-08
      Mount Elizabeth Medical Centre
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