Genes, Malnutrition, And A Hole In Your Baby's Heart

Genetics, maternal malnutrition, poor lifestyle can cause a hole in a baby’s heart in the womb

Dr. Yogesh Sathe | Oct 27, 2020

Very few people know that the most common birth defects in humans are Congenital Heart Defects (CHDs). It occurs in 10 out of every 1000 live births in the world! In fact, in India alone, 2.4 lac babies are born every year with CHD, out of 2.4 crore total births per year. Out of these, nearly one-fifth, that is around 50,000 children suffer from critical CHDs, which means that they need surgery or catheter interventions during the first year of life itself. It is a sad and alarming truth of our lives that CHDs now account for almost 15% of the infant mortality rate in India. All these alarming statistics point towards a need for maximum cardiac care to be provided by family, society and Government.

There are several causes behind this widespread occurrence of CHDs in children. Genetics is one of them, accounting for nearly one-fifth of the total occurrences. It can also be caused by the mother taking certain medications or developing certain infections during the very first 8 weeks of the development of the baby in the womb. This is critical because it is the initial phase of cardiac development or the development of the heart of the embryo.

Maternal health conditions, such as diabetes in the mother, tobacco exposure or alcohol consumption and even maternal malnutrition, can play an indirect role in the development of certain types of CHDs. Mothers who already have a child with CHD have an increased risk of conceiving another child with CHD. In rare cases, genetic causes can lead to certain CHDs even being clustered in siblings in a family tree!

CHD is a structural defect in either the valves or the blood vessels of the heart, and is present since birth. Structural development of the heart is almost complete in the first 50 days of the formation of the embryo. If the embryo is exposed to certain maternal, genetic or environmental factors in this period, it leads to the development of CHD.

With the availability of improved neonatal and paediatric care services, CHDs are being increasingly suspected by Primary Care Paediatricians through clinical suspicion and bedside clinical examinations. They can be suspected even before the baby is born, through foetal anomaly screening by ultrasound. Fetal echocardiography is done around 16 to 20 weeks of the pregnancy to rule out congenital heart diseases. In case it remains undetected at this stage, during infancy, detailed cardiac ultrasound (echo) by a trained Pediatric Cardiologist is very important for early diagnosis. CT Scans and Cardiac MRI may be needed in certain cases for planning surgical treatment.

CHDs can be broadly classified into cyanotic and acyanotic heart diseases. Children with acyanotic heart diseases could have any or all of these - repeated respiratory tract infections, inadequate weight gain, forehead sweating, feeding difficulties, breathlessness and so on. Cyanotic heart diseases are marked by varying degrees of cyanosis, which is a bluish discolouration of lips and nail beds. Some children could even go into repeated episodes of cyanotic spells, and squatting episodes as they grow older.

With modern advancements in specialised cardiac care, nearly 95 percent of CHD cases can be completely cured or at least significantly reduced in severity. Some simple defects can even get cured naturally and only medical follow-up and management can suffice. Complex CHDs can be treated through open-heart surgeries or in a ‘cardiac cath lab’. It is also important to remember that children who have already undergone surgical treatment, would still need life-long care and monitoring to avoid development of rare, unwanted complications.

In fact, in high income countries, 95 per cent of such babies have good long term survival, as opposed to mid and low income countries where almost 90 per cent of such babies are unable to access such advanced care even today. This makes it a necessity and a social obligation on our part as paediatric cardiac care professionals to increase awareness about Congenital Heart Diseases, among parents, families, health care givers and society as a whole. Although currently there is no preventive solution for CHD, but early detection and timely intervention can help such children lead a normal and happy life. Let us all work together and save little hearts who could be future scientists, sports icons and even Presidents.

(Author is Deputy Director & HOD, Dept of Paediatric Cardiology at the Sri Sathya Sai Sanjeevani International Centre for Child Heart Care & Research)