When four-day-old Gourav refused to be breastfed, sweated heavily while suckling and faced severe breathing trouble, his parents feared something was terribly wrong. Worried, they rushed him to a district government hospital where an initial clinical examination detected cardiac issues with low oxygen saturation. As the hospital had no facility to diagnose the condition, his parents immediately shifted him to a private hospital in Bhubaneswar where an echocardiogram confirmed a large a hole in the wall separating the heart’s two lower chambers (ventricular septal defect (VSD)) with obstruction in pulmonary artery. Doctors said the child was born with the hole in his heart. The diagnosis shocked the young couple as they recalled nothing unusual had come up during pregnancy.
Gourav was stabilised with medication and the following day cardiovascular surgeons conducted a corrective surgery. The hole was closed and the obstruction in the pulmonary artery removed, leaving the child with no more breathing problems.
The child is fine now and doing everything that other kids of his age used to do, senior cardiothoracic vascular surgeon Dr Sangram Keshari Behera, who conducted the surgery, said. “The condition is generally present at birth with mild to severe symptoms and can turn fatal if immediate treatment is not given. This is not an isolated case but a common arc for many Indian infants born with a hole in the heart which is referred to as congenital heart disease (CHD),” he said.
According to cardiologists, a hole in the heart is a type of CHD, a problem with the heart’s structure that is present at birth. Congenital heart defects change the normal flow of blood through the heart, thus endangering the life of the baby.
Growing public health concern
CHD is the commonest of all congenital lesions accounting for around 28% of all congenital birth defects. It is considered to be the most common type of heart disease among children. The incidence of congenital heart disease is approximately 8-10 per 1,000 live births, with a higher rate in stillbirth, spontaneous abortion and prematurity.
As per a recent study conducted by a team of doctors of Chamarajanagar Institute of Medical Sciences (CIMS), Karnataka, and published in European Journal of Cardiovascular Medicine, CHD is considered one of the leading causes of neonatal mortality and 10% of the present infant mortality in India is linked to the disease.
The study stated that the incidence of CHD has remained constant worldwide. In 40-50% patients, the diagnosis is established in the first week of birth and many cases are asymptomatic and discovered incidentally during routine health checkup. Dr Debasish Das, additional professor in cardiology at AIIMS-Bhubaneswar, said congenital heart diseases develop during the foetal life. “These defects may range from small holes that spontaneously close to complex malformations requiring multiple surgeries. Globally, CHD affects about one in every 100 babies. In India, this translates to more than two lakh newborns annually, making it one of the highest disease burdens,” he said.
Despite the high prevalence, CHD remains a lesser-known public health challenge in the country. However, cases are coming to the fore more often due to improvements in antenatal care, newborn screening and availability of echocardiography. “Awareness is still low. Parents do not expect that a baby can look normal at birth and yet harbour a serious heart defect,” Dr Das said.
Symptoms not to be ignored
The causes of CHD remain complex and often unknown. Most cases arise from a combination of genetic predisposition and environmental influences during early pregnancy. Uncontrolled maternal diabetes mellitus, rubella infection during pregnancy, intake of teratogenic drugs like lithium or isotretinoin, family history of congenital heart disease and genetic mutations, apart from alcohol consumption and smoking during pregnancy are the main causes of CHD in newborns.
“Symptoms of congenital heart disease include breathing difficulty, recurrent respiratory tract infection in early childhood, poor feeding and weight gain, unusual sleepiness, excessive forehead sweating, suck-rest-suck cycle, inconsolable cry, swelling of leg, feet and abdomen, and bluish discoloration of skin, lips and fingernails,” said Dr Das. There is not one single cause for CHD, said Dr Vikas Kohli, senior paediatric cardiologist and founder of Child Heart Foundation. “Sometimes it runs in families, sometimes it just happens without any reason. Parents often blame themselves, but they shouldn’t unless they are alcoholic or ignore the blood sugar level during pregnancy. What matters is recognising the signs. If a baby breathes too fast, tires easily while feeding, looks bluish, sweats too much, or doesn’t gain weight properly, these are signals that something may be wrong. Repeated chest infections are also a sign. If parents notice any of this, they should see a doctor without delay,” he said.
Diagnosis and treatment
Echocardiography remains the cornerstone of CHD diagnosis. This ultrasound-based tool helps define the heart’s structure, blood flow and pressure gradients. In complex cases, doctors rely on MRI, CT angiography or diagnostic cardiac catheterisation.
One of the major challenges in CHD is early detection as symptoms in newborns are often subtle. “However, pulse oximetry, a simple test measuring oxygen saturation, can detect a majority of these heart defects soon after birth. A simple saturation check can save a life. Heart defects can now be checked even before the baby is born. A foetal echocardiography test done during pregnancy can show the baby’s heart in detail. It helps doctors prepare for treatment right after birth when needed,” said Dr Dibyaranjan Behera, consultant interventional cardiologist at Manipal Hospital, Bhubaneswar.
Treatment options depend on the type and severity of the defect. Medical management may suffice initially in some infants, especially those showing heart failure symptoms, but medications help relieve breathing difficulty, reduce fluid overload and stabilise the heart. Interventions in severe cases include catheter intervention, surgery and cardiac transplantation.
“The cost of the procedure depends on the type, complexity, need of pre and post operative care, hospital stay and need of additional procedures,” said Dr Das.
With advancements in technology, India has developed strong expertise in paediatric cardiac surgery, with several advanced centres achieving outcomes on a par with global benchmarks. “Surgery is not the biggest hurdle, but reaching the surgical centre on time is. Treatment for CHD has improved a lot. Many defects can be treated without open surgery. Small tubes are used to repair or open parts of the heart. These procedures are safe, even for tiny babies. Some children still need surgery, but results are very good when it’s done at the right time,” said Dr Kohli.