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Congenital Heart Disease
Diagnosis and Treatment

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1.What is Congenital Heart Disease?

Congenital heart disease, or a congenital heart defect, refers to an abnormality that is present in an individual at birth. It can affect the heart’s walls, valves, and blood vessels.

There are different types of congenital heart defects, ranging from simple conditions that don’t cause symptoms to complex ones that cause severe, life-threatening symptoms.

Common conditions of the heart that can co-occur with these include blockage of blood flow from the right ventricle to the aorta or variations in the course of the coronary arteries.

Treatments and follow-up care for congenital heart disease have improved a lot over the past few decades so that nearly all children with heart defects survive into adulthood. Some need continuous care throughout their lives.

However, many live active and productive lives despite their condition.

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2.Types of Congenital Heart Disease

The main types of congenital heart disease which consist mostly of structural issues are as follows:

1. Heart Valve Defects

In heart valve defects, the valves in the heart that direct blood flow closes up or leak. This, in turn, interferes with the heart’s ability to pump blood correctly.

2. Heart Wall Defects

Here, the walls between the upper and lower chambers and left and right sides of the heart do not develop correctly, causing blood to flow back into the heart or to build up in inappropriate places. Under such conditions, the heart is forced to work harder, which, in turn, may result in high blood pressure.

3. Heart Blood Vessel Defects

In heart blood vessel defects, the blood vessels that carry blood to the heart and back to the body do not function as they should. This can cause blood flow to reduce, or even block blood flow, leading to numerous complications.

4. Heart Muscle Defects

In heart muscle defects, the heart does not pump blood as efficiently as it should. This can result in heart failure.

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3.Cyanotic and Acyanotic Congenital Heart Disease

Congenital heart diseasecan be either cyanotic or acyanotic, these are the conditions that exhibit in these types of defects.

Cyanotic Defects

Defects that lower the amount of oxygen in the body are called cyanotic. In cyanotic congenital heart disease, oxygen-rich blood and oxygen-poor blood mix together. This causes less oxygen-rich blood to reach the tissues of the body which, in turn, results in the development of a bluish tint - cyanosis - to the skin, lips, and nail beds.

Acyanotic Defects

Defects that don't affect the amount of oxygen in the body are called acyanotic. In acyanotic congenital heart disease, the bluish tint of the skin isn't common in babies, although it may occur.

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4.Causes of Congenital Heart Defects

Where congenital heart diseases are concerned, early developmental problems in the heart’s structure is seen as the cause. The defect usually interferes with the normal flow of blood through the heart. This may, in turn, affect breathing.

Although the process of development of the heart is not fully understood yet, the suspected causes of congenital heart defects include the following:

  • These defects may run in familial genes.
  • Certain medications, taken during pregnancy, leave the child at a higher risk for a heart defect.
  • The use of alcohol and/or illegal drugs during pregnancy can increase the child’s risk of having a heart defect.
  • Mothers who, during the first trimester of pregnancy, suffered from viral infection have a higher probability of giving birth to a child with a heart defect.
  • Increased blood sugar levels, such as what is seen in diabetes, may affect childhood development.

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5.Congenital Heart Defects in Children

Congenital Heart Defects

A child who has a congenital heart defect is one who was born with a problem in the structure of his or her heart. Some of these defects are simple and require no treatment. Others may call for multiple surgeries over the course of years before they are corrected. The more serious defects become evident during the first few months of the child’s life or even soon after birth, in some cases.

Signs and symptoms of congenital heart defects in children could include pale grey or blue skin color (cyanosis), swelling in the legs, abdomen or areas around the eyes, rapid breathing, and shortness of breath during feedings leading to poor weight gain.

Some congenital heart defects which are less cause for concern may not get diagnosed until late childhood as the child may not have any evident signs of a problem. If signs and symptoms present themselves in older children, they may include:

  • Shortness of breath during physical activity
  • Easily tired during physical activity
  • Fainting during physical activity
  • Swelling in the hands, ankles or feet

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6.Precautions to Take During Pregnancy

To lower the risk of congenital defects in children, women who are pregnant or plan on becoming pregnant can take the following precautions:

  • Inform your doctor about any medications you may be taking.
  • In case you are a diabetic, ensure your blood sugar levels are under control before becoming pregnant.
  • In case of a lack of vaccination against rubella, avoid exposure to it and consult your doctor regarding options for prevention.
  • In case of a family history of congenital heart defects, consider genetic screening.
  • Ensure you are vaccinated against rubella and flu.
  • Take 400 micrograms of folic acid supplement a day during the first trimester (first 12 weeks) of your pregnancy.
  • Avoid contact with people who have an infection.
  • Avoid exposure to organic solvents. Eg. those in dry cleaning, paint thinners and nail polish remover
  • Work with your doctor to manage diabetes, if present, while pregnant.
  • Avoid drinking alcohol and using illegal drugs during pregnancy.

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7.Congenital Heart Defects in Adults

Based on the nature of the defect, diagnosis may happen soon after birth, during childhood, or in adulthood. Some defects may not become apparent until adulthood. In such cases, the symptoms of a newly discovered congenital heart defect may include shortness of breath, chest pain, a reduced ability to exercise and becoming easily fatigued.

There could also be cases where defects treated in childhood can occur again in adulthood. This can happen because the repair may be ineffective or the defect has outgrown over time. Another problem that may arise is scar tissue, such as in heart arrhythmias.

The treatment for congenital heart disease in adults varies depending on its severity. Some patients may only need constant monitoring, while others may require surgeries and medications.

The quality of life (QOL) of individuals living with Adult Congenital Heart Disease (ACHD) has been a subject of much interest to researchers. While earlier studies showed that those with this disease suffered a low QOL, recent studies, most encouragingly, show the opposite.

Women with ACHD also need not worry as, today, there exist many birth control options for those suffering from ACHD. Or, if pregnant, a successful delivery can be guaranteed through careful planning and management. However, it is important to remember that there are higher risks for the mother and foetus in case of ACHD and, in some cases, abstaining from getting pregnant is advised.

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8.Symptoms to Look Out For

A wide range of symptoms is possible in case of Congenital Heart Disease, depending on the type of defect involved. An ultrasound during pregnancy is often how congenital heart defects are detected. An abnormal heartbeat picked up during an ultrasound, for instance, may become the reason for further investigation. These may include an MRI scan, a chest X-ray, or an echocardiogram.

In other cases, the symptoms of Congenital Heart Disease may not appear until after birth. Newborns having a congenital heart defect may show the following symptoms:

  • Bluish fingers, toes, lips, and skin.
  • Chest pain
  • Delayed growth
  • Breathlessness
  • Difficulty feeding
  • Low birth weight

In still others, the symptoms may not appear until many years into childhood. Once they do develop, they may include:

  • Trouble breathing
  • Fainting
  • Abnormal heart rhythms
  • Dizziness
  • Fatigue
  • Swelling

However, the general signs of congenital heart disease normally include:

  • A blue tinge to the skin (cyanosis)
  • Rapid breathing
  • Rapid heartbeat
  • Swelling in the legs, tummy and around the eyes
  • Shortness of breath in babies during feeding (making it hard for them to gain weight) and in older children and adults during exercise
  • Extreme tiredness and fatigue
  • Fainting during exercise
  • Swelling in the hands, ankles or feet

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9.Diagnosis

Diagnosis of Congenital heart disease

Diagnosis may take place prior to, soon after, or much after birth.

An abnormal heartbeat - a heart murmur or an unusual sound, for instance - is often how congenital heart defects are diagnosed as this leads to further tests, such as:

● Echocardiogram

An echocardiogram is a type of ultrasound that clicks images of one’s heart. It uses sound waves to make a moving picture of the heart and heart valves. This test may show a transposition of the great arteries or TGA. Different types of echocardiograms are available. Ensure the one most well-suited to your needs is chosen.

● Cardiac Catheterization

Cardiac catheterization allows a cardiologist to obtain direct information about the blood pressures and patterns of blood flow within your heart. A doctor inserts and guides an extremely thin tube or catheter through a blood vessel to your heart. They insert the dye into the catheter and use X-ray videos to view the inside of one’s heart.

● Chest X-Ray

Chest X-rays are capable of revealing signs of heart failure. They give your cardiologist information about the size and shape of your lungs and the heart. The amount of radiation here is extremely small and doesn't cause any long-term side effects.

● Electrocardiogram (ECG or EKG)

An ECG or EKG measures the heart’s electrical activity. It also shows abnormal rhythms (arrhythmias or dysrhythmias) and spots heart muscle stress. It receives tiny electrical impulses that the beating heart makes and records them on a moving strip of paper.

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10.Treatment

Treatment of Congenital Heart Disease

Depending on the severity and type of congenital heart defect involved, its treatment varies. Some babies may have mild heart attacks that get cured by themselves over time. Other children may have a more severe manifestation of defects that call for extensive treatment. In such cases, your options include:

● Medications

Numerous medications can help the heart function more efficiently. Some may also be used to prevent the formation of blood clots and to control an irregular heartbeat.

● Implantable Heart Devices

Certain devices such as pacemakers that help regulate an abnormal heart rate and implantable cardioverter defibrillators (ICDs) that can correct irregular heartbeats, can prevent some of the complications associated with congenital heart defects.

● Catheter Procedures

These permit doctors to fix or repair congenital heart defects without opening the chest and heart surgically. Here, the doctor inserts a catheter through a vein in the leg and guide it up to the heart. Using small tools threaded through the catheter, s/he then proceeds to correct the defect.

● Open-Heart Surgery

These may be required if catheter procedures are unable to repair a defect. These can close holes in the heart, widen blood vessels, or repair heart valves.

● Heart Transplant

In cases where a congenital heart defect is too complex to be repaired, a heart transplant may be resorted to. During this procedure, a donor’s healthy heart replaces the patient’s heart.

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11.Congenital Heart Defects FAQs: All Your Concerns Addressed

Q.  When should you suspect that your child could have heart disease?

  1. When the child displays rapid and distressed breathing, blue discoloration of the nails, lips or tongue, feeding difficulty including not sucking well and breathlessness, recurring cough with fever and/or chest infection. When the child is showing inadequate weight gain, and her physical milestones are not in keeping with her age.

Q.  What is the health impact of congenital heart defects?

  1. CHDs are the most common cause of death among infants with birth defects. Approximately 25% of children born with a CHD will need heart surgery or other interventions to survive. Having said that, today, over 85% of babies born with a CHD now live to at least age 18. People with CHDs face a life-long risk of health problems such as issues with growth and eating, developmental delays, difficulty with exercise, heart rhythm problems, heart failure, sudden cardiac arrest or stroke.

Q.  As an adult having a congenital heart defect, do I need to do regular follow-ups with my doctor?

  1. Adults who have had heart surgery as a child must visit a doctor regularly for life. If you experience your heart racing, extra heartbeats, trouble keeping up with usual exercise routines or feel easily exhausted, you would do well to consult a specialist.

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12.Stories of Hope

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