FAQs

Congenital heart disease (CHD) is the type of heart disease that a baby is born with. CHD it is a defect, or abnormality of the heart or blood vessels near the heart, and not a disease, so many people use the term “congenital heart defect”.

The majority of children born today with CHD will survive and with proper treatment be able to lead a normal or near-normal life. Some kinds of CHD are mild and may not be diagnosed in infancy. About a third of CHD are severe and will need a life-saving intervention in infancy.

Paediatric Cardiologists care for children with congenital or acquired cardiac and cardiovascular abnormalities. The scope of paediatric Cardiology practice is extensive. Paediatric Cardiologists evaluate and care for fetuses, neonates, infants, children, and adolescents and adults with CHD.

CHD is the most common form of birth defect occurring in 1 per 100 births worldwide. However, only about a third of these need some form of intervention.

Paediatric cardiologist and Paediatric cardiac surgeons work as a team to create a comprehensive, individualized treatment plan based on your child’s specific condition. Some CHD conditions can be treated in the catheterisation lab, whereas some need an open-heart surgery.

Critical congenital heart diseases will be evident in the first few days or weeks of life. The most common symptoms include

• Rapid breathing
• Feeding difficulty/ shortness of breath during feeding
• Inadequate weight gain
• Bluish discoloration of skin – Cyanosis
• Easily tiring during exercise or activity
• Fainting during exercise or activity – Syncope
• Swelling in the ankles or feet
• Chest pain/discomfort
• Abnormal heart beats – heart beating fast or missing beats

A congenital heart defect can affect the heart walls, heart valves or heart vessels (blood vessels from the heart)

• Holes in the heart – Holes or defects can form in the walls between heart chambers or between major blood vessels leaving the heart. A ventricular septal defect is a hole in the wall between the right and left chambers on the lower half of the heart chambers (ventricles). An atrial septal defect occurs when there’s a hole between the upper heart chambers (atria). Patent ductus arteriosus (PDA) is a connection between the pulmonary artery (artery containing deoxygenated blood) and the aorta (main artery containing oxygenated blood)
• Abnormalities of Heart Valves – In heart valve defects, the valves inside the heart that direct blood flow may close up or leak. This interferes with the heart’s ability to pump blood correctly.
  1. Obstructed blood flow – When blood vessels or heart valves are narrow because of a heart defect, the heart must work harder to pump blood through them. Examples are Aortic stenosis or pulmonary stenosis
  2. Leaking valves – When the heart valves donot close appropriately causing increased work load to the heart. Examples are mitral regurgitation, Tricuspid Regurgitation.
  3. The valves are not formed well and their function is impaired – like in tricuspid atresia, mitral atresia, Ebstein anamoly
• Abnormalities of Heart Vessels – In blood vessel defects, the arteries and veins that carry blood to the heart and back out to the body may not function correctly.
  1. A defect called transposition of the great arteries occurs when the pulmonary artery and the aorta are on the wrong sides of the heart.
  2. Total anomalous pulmonary venous connection is a defect that occurs when blood vessels from the lungs attach to wrong area of the heart.
• Combination of Problems – this group are more severe form of heart defects where a combination of problems involving the heart walls, vessels and heart valve. Few examples are Hypoplastic left heart syndrome, Tricuspid atresia, double outlet right ventricle with transposed great vessels, Heterotaxy syndromes.

The development of the heart begins in the first few weeks of pregnancy and is the first organ to start functioning. The heartbeat is seen at about 5-6 weeks of pregnancy. It is at this point of human development; heart defects may begin to develop. Genetics, certain medical conditions, some medications and environmental factors play a role but researches haven’t established what is the exact cause in most of the congenital heart defects.

Most cases of congenital heart defect have no known cause. However, many risk factors for development of congenital heart disease have been explained.

• Maternal factors – Pre gestational diabetes, Mother on anti seizure medications, maternal phenylketonuria, SLE in the mother, Febrile illness in the first trimester, maternal Rubella
• Family history of Congenital heart disease – There is a three times higher risk of CHD in a child when a first-degree relative has a CHD. Some heart defects have autosomal-dominant inheritance and hence each pregnancy, a parent with the defect has a 50% chance to have a child with the same heart defect.
• History of consanguinity
• Lack of use of folic acid during peri-conceptional period
• Chromosomal defects – Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often result in a higher risk of heart problems in babies. In babies with chromosome abnormalities, around 30% will have a heart defect.
• Single gene defects – Gene changes (mutations) cause number of health problems and these are classified as syndromes. Marfan syndrome, Noonan syndrome, Allagile syndrome are examples of single gene mutations, which are associated with increased risk of heart defects.

Serious congenital heart defects are often diagnosed before or soon after your child is born. A paediatrician refers your child if signs and symptoms of CHD are seen. An obstetrician may refer pregnant women for antenatal diagnosis/counselling for a CHD

The successes of paediatric cardiology and cardiac surgery in last few decades have enabled a new group of women, who have undergone a successful repair of the heart defects and reached adulthood. Pregnant women with repaired congenital heart defects differ both anatomically and physiologically from normal pregnant women. However, most women in this new cohort can anticipate safe and successful pregnancies. Pregnancy in women with treated CHD imparts additional haemodynamic loads, changes in mechanisms of clotting, and increased propensity to abnormal heart rhythms all of which increase the risk of adverse maternal cardiac events during pregnancy. In addition, there may be risks for adverse foetal and neonatal events. The recognition and appropriate management of such risks, when present, should optimise outcomes, while the recognition in other cases that a woman with a congenitally malformed heart is not at high risk allows reassurance.

The prenatal/ antenatal diagnosis of congenital heart disease has had profound implications for the clinical care of neonates with congenital heart disease.

• Management of congenital heart disease and pregnancy
• Prenatal diagnosis of CHD
• Fetal Echocardiography
• Psychosocial issues with CHD