Congenital Heart Defect: A Story about Little Hearts
Congenital heart defects (CHD) are the most common form of birth defects, affecting over 7 in 1,000 children worldwide. In Asia, the prevalence is about 9.3 per 1,000 births. A CHD doesn’t necessarily have to be life-threatening — about 75–85% of children born with CHD will live well into adulthood.
What Is a Congenital Heart Defect?
Congenital means present at birth. CHDs refer to a group of heart defects arising from issues in the development of one or more parts of the heart during early foetal development. Common signs and symptoms include:
Abnormal heart sound (heart murmur)
Rapid breathing
Low blood pressure or low oxygen levels
Blue or purple tint to the skin due to lack of oxygen
Causes: Genetic and Non-Genetic
Most forms of CHD have no known single cause. CHD is a complex condition with a variety of genetic and environmental contributors.
Non-genetic risk factors:
Environmental teratogens — pesticides, dioxins, polychlorinated biphenyls
Maternal exposure to alcohol, thalidomide, anti-seizure medications, or infections such as rubella
Obesity, diabetes, and high cholesterol
Genetic contributors:
Syndromic CHD: Heart defects occurring as part of a genetic syndrome such as Down syndrome, Turner syndrome, or 22q11.2 deletion syndrome
Single gene changes: Disease-causing changes in genes involved in normal heart development before birth
Management
Many CHDs can be detected during routine pregnancy ultrasound at 16–20 weeks. Simple defects may need minor or no management — some correct themselves as children grow. Others may require surgery within hours of birth. Despite high success rates, many children in India are not diagnosed in time due to lack of prenatal care, awareness, and funds.
Precautions During Pregnancy
Receive vaccination against Rubella
Take folic acid supplements
Speak with your doctor about all medications during pregnancy, including herbal remedies
Avoid exposure to chemicals such as dry-cleaning agents and paint thinners
Avoid smoking and alcohol
Maintain a healthy diet with good blood sugar control
References
Fahed AK & Nemer GM (2012). Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease. InTech. DOI: 10.5772/48477
Genetic Counselling for Congenital Heart Defects
If you are an adult with a history of CHD, or a parent of a child with CHD, speaking with a genetic counsellor can help you understand the diagnosis, assess recurrence risk, and discuss emotional and medical implications for your family. MapmyGenome’s certified genetic counsellors are here to help.
