JOIN USCongenital heart disease (CHD) refers to a range of heart defects that are present in a child at birth and affect the normal functioning of the heart. These are the most common type of birth defects, causing more deaths in the first year of life than any other birth defect.
In India, the prevalence of CHD is about 19 cases per 1,000 babies which is more than one per 100 and many of them could be critical cyanotic congenital heart disease (CCCHD) – generally one out of every 10.
The likelihood of survival for babies born with CCCHD is strongly linked to the right diagnosis made within the first 48 hours after birth, which is also the most critical period
in the detection of any heart defect.
Some of the most common CHD defects are ventricular septal defect (33 per cent) which is a hole in the wall that separates the right and left ventricles of the heart, followed by atrial septal defect (19 per cent) which refers to an abnormal formation of the upper parts of the heart and tetralogy of Fallot (16 per cent), also called the blue baby syndrome.
Some abnormalities in the heart can be detected during pregnancy through an ultrasound or by a foetal echocardiogram, especially if there is a family history of congenital heart disease, congestive heart failure or failure to thrive in siblings, parents and first degree relatives. Such an early diagnosis substantially reduces the risk of death and helps the doctors and the family plan treatment before birth.
Pediatricians suspect CCCHD in infants 24 hours after birth in the presence of a cardiac murmur, presence of cyanosis (a blue or purple colouration of the skin, fingernails and lips) or feeding difficulty only.
Babies born with a heart defect are at risk of having serious complications within the first few days or weeks of life, which is why newborn screening is crucial and if an abnormality is detected, then additional tests need to be performed. These could include an electrocardiogram (ECG or EKG), chest X-ray or echocardiogram.
In the absence of robust screening of newborns for CCCHD, signs such as shortness of breath, poor feeding and growth, poor weight gain, respiratory infections, fainting and under-development of limbs and muscles are indications that need to be tracked.
Down’s syndrome
It is not always possible to determine the cause of a congenital heart disease, but most such defects tend to be genetic.
In some cases, CHD is found in children with Down’s syndrome. It is suspected that consumption of alcohol or drugs during pregnancy; medications such as retinoic acid for acne; and viral infections such as ru-bella in the mother during the first trimester of pregnancy increase the likelihood of congenital heart disease in the baby.
Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defect. So, expecting mothers can reduce the risk of having a baby with congenital heart disease by ensuring proper prenatal care, avoiding alcohol and drugs, taking medication after consulting the doctor and keeping diabetes under control.
Some congenital heart defects can be treated with medication while others need to be treated with cardiac surgery and cardiac catheterisations, which can be performed on children.
The treatment however depends on the type and severity of the heart defect and other factors such as the child’s age, size, and general health. Some children who have complex congenital heart defects may need several catheter or surgical procedures over a period of years, or they may need to take medicines for years.
Children with CCCHD can experience developmental delays and face life-long risks such as heart rhythm problems, heart failure, sudden cardiac arrest or stroke.
Today, with medical advances in testing and treatment; specialised paediatric cardiology training progra-mmes, CMEs, seminars and symposia; improved infrastructure and better care; and timely referral of cases, more infants with congenital heart defects survive to adulthood. All these can be minimised by newborn screening for CCCHD with a simple screening test.
(The writer is neonatologist and Chairman, Cloudnine Hospital, Bengaluru)