What Is Congenital Heart Disease?

WHAT IS CHD AND OUR NIGERIAN REALITY

Congenital Heart Disease (CHD) refers to structural and or functional abnormalities of the heart or its large blood vessels that is present at birth. While CHD can be used to mean both Congenital Heart Disease and Congenital Heart Defects, both are different. Congenital Heart Defect is for structural abnormalities/ defects/ or lesions of the heart and/ its main blood vessels, while Congenital Heart Disease is an umbrella for structural, electrical or functions defects of the heart and blood vessels. Structural defects are commonly referred to as Hole-in-the -Heart by the layman. Generally, there are over 40 types of Congenital Heart Diseases, and the defect spectrum are classified into Cyanotic and Acyanotic Congenital Heart Defects.

The exact cause of CHDs is unknown, however, as with other congenital anomalies, environmental, maternal health and genetic factors are believed to play huge role in CHD development. CHD is the most common congenital abnormality that children are born with globally. It can exist singularly or co-exist with other congenital anomalies, forming syndrome e.g VACTERL syndrome (https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/vacterl-association-0/)

The incidence of CHD varies globally. According to Centre for Disease Control (CDC) 2025 and The Children’s Heart Foundation, CHD affects 1% of live birth in the United States. In the United Kingdom, 8 in 1000 children are said to be born with congenital heart diseases. In many developing countries, the incidence of CHD is difficult to establish. In Nigeria, the largest African country with high population and birth rate, the incidence of CHD is still unclear, between 9 and 14 per 1000 live birth.

The signs and symptoms of CHD depends on the type of abnormality; however, the symptoms have been categorized into:

H Heart rate that is too fast or slow, with or without cardiac murmur

E Energy level that is low and constantly diminished, manifesting as excessive sleepiness and lethargy

A Appearance of parlour, cyanosis, blueness, low weight, or failure to thrive

R Respiration that is usually faster than normal

T Temperature that is usually low and sweaty.

CHDs can be diagnosed and managed prenatally (in-utero while child is in the womb) or postnatally (after childbirth). Prenatal diagnosis is made through maternal ultrasound during antenatal workup, and specifically using fetal echocardiogram (an ultrasound that looks at the fetal heart). This is usually carried out alongside anomaly tests, around 20 weeks gestational age. Postnatal diagnosis is done after childbirth. Diagnosis can be made with echocardiogram (an ultrasound of the heart) which shows the pathology, and other supportive investigations including chest x-ray, electrocardiogram etc. With prenatal diagnosis, the healthcare system and care providers may plan and treat child before birth, or immediately after birth as needed. Parents also get the choice of making decisions to continue with the pregnancy or otherwise if it is a complex CHD. Prenatal diagnosis helps to slightly control the burden of CHD if the services are available and accessible. Unfortunately, diagnosis and treatment of CHD is still very unrefined in Nigeria. Pre-natal diagnosis services is nearly unavailable and post-natal diagnosis is flawed.

Congenital heart diseases can be manged conservatively, medically, surgically and interventionally, based on the condition and complexity of case. Open heart surgery is the most common treatment for defect conditions, however, most recently, many corrections can now be done in the cardiac catheterization lab using occluder devices. Catheter closure interventions is still developing in low- and middle-income countries, LMICs. In Nigeria, as of 2025, there are less than 10 interventional cardiologist that can perform this procedures. Other congenital diseases like WPW can be treated by catheter ablation procedures. As of 2025, no specialist can perform this in Nigeria. Rhythm diseases e.g congenital bradycardia or heart block can be treated with pacemaker insertion, which Cardiothoracic surgeons can perform, however devices can be scarce and requires ordering per case from international manufacturers.

Congenital Heart Diseases in Nigeria are therefore associated with high mortality and morbidity, with the burden very high. While many born with CHD in the developed world continue to live longer life. Sadly, many kids born with CHD in LMICs will not see their first birthday, as over 50% of CHDs require intervention before the first year. With CHD services unpopular in developing countries, CHD continues to increase the neonatal, and under 5 mortality rate in LMICs, and in Nigeria particularly, making SDG 3 (https://www.globalgoals.org/goals/3-good-health-and-well-being/ ) far from being achievable in the year 2030. The burden of CHD varies from countries to nations. In Nigeria, Congenital Heart Disease has a huge financial, emotional, mental, psychological, economical and healthcare burden. While the healthcare system shoulders a great burden, a larger burden is on families directly impacted by this condition, who lack the resources and support to care for these kids born with CHD. Most times, CHD requires lifelong care, and continuous support network such as those offered by CHDFNigeria’s CHD community.

To combat child mortality associated with congenital anomalies, including CHD, developed countries have mandated Newborn screening program into their health services. Newborns blood (dry blood spot) are taken to help identify genetic or congenital anomalies. This in addition to prenatal anomaly screening to help control the burden of CHD and other congenital anomalies, thus reducing child mortality. Congenital Heart Defects is becoming a child public health issue in Africa due to it’s alarming mortality and morbidity rate. Poor knowledge, illiteracy, poverty, and low level of awareness, the knowledge of CHD is poor in developing countries necessitating the need for increased awareness, advocacy and improved care in Nigeria. Many families in Nigeria would have visited at least 4 different hospitals before they get properly diagnosed, and by that time, the children are sick or critically ill, requiring urgent intervention, in the face of poverty and poor cardiac care infrastructure.

Children with CHD often require nutritional support pre, intra and post procedure due to high calorie consumption and or high energy expenditure.

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