Also known as a congenital heart defect, congenital heart disease encompasses a group of heart conditions present from birth. Congenital heart disease is the most common form of birth defect in Australia. Assessment and management with a cardiologist experienced in congenital heart disease as soon as a problem is noticed can improve longevity and reduce the risk of poor long-term outcomes.
It is not fully understood why some babies’ hearts do not develop normally. Most heart defects occur within the first six weeks of pregnancy, which is when the heart muscle and major blood vessels begin to form, and the heart starts beating on its own.
A growing foetus may be at a higher risk of developing a congenital heart defect if:
Maternal age can play a role in the risk of giving birth to a baby with a congenital heart defect. Both older mothers (over the age of 35) and younger mothers (under the age of 24) have been found to carry an increased risk of a baby with specific forms of congenital heart disease compared to women who give birth within this age range.
There are many different types of congenital heart defects. They can differ in severity and impact; sometimes, a problem is not detected until later in life, even adulthood, despite routine pregnancy ultrasounds and newborn screening assessments. It is also possible for a baby to have more than one type of heart defect.
The valves of the heart are like one-way flaps that prevent blood from flowing backwards. In a growing foetus, a heart valve may not develop properly or may be too narrow, which means the heart must work harder to pump blood around the body.
Congenital valvular heart disease can affect any of the heart’s four valves. Types of heart valve disease can include:
The extra burden placed on the heart to pump blood around the body through a valve defect can result in an increased risk of complications such as heart failure, hypertension, arrhythmias, and heart infections (infective endocarditis).
A congenital heart valve defect may only be detected later in life as the impact of the defect becomes apparent with age. For example, bicuspid aortic valve symptoms may be absent in childhood but manifest as chest pain, fatigue, shortness of breath, and lightheadedness in adulthood.
There are four large blood vessels that connect the heart to the rest of the body. A defect in one or more of these great blood vessels may present as a narrowing (stenosis) or an abnormal placement.
Types of congenital blood vessel defects can include:
Some structural problems of these blood vessels leading to or from the heart, such as transposition of the great arteries or severe coarctation of the aorta, can be life-threatening and need immediate treatment.
A congenital septal defect occurs when a hole is left between the wall (septum) dividing the left and right chambers of the heart. An atrial septal defect connects the upper two chambers (the atria), while a ventricular septal defect affects the lower two chambers (the ventricles). Ventricular or atrial septal defect symptoms may not be apparent in a newborn, especially if the hole is small. Some babies may demonstrate poor feeding, poor growth, and rapid breathing, or an abnormal heart sound known as a heart murmur may be heard with a stethoscope. Atrial septal defects in particular are often not diagnosed until adulthood.
In adulthood, a septal defect can present with:
Other types of congenital heart defects include single ventricle defects, affecting a ventricular chamber; Tetralogy of Fallot, a rare condition combining four specific heart defects; and truncus arteriosus, a severe congenital anomaly where a single artery carries blood from the heart to the lungs and rest of the body instead of having two separate arteries (the aorta and pulmonary artery).
Management for a congenital heart defect will depend on the nature of the condition. Some milder forms of the disease, such as a small ventricular septal defect may even self-resolve as the child grows older.
Some congenital heart diseases are detected during a pregnancy scan or soon after birth if the baby displays symptoms, but some only become evident later in life. Tests for congenital heart disease in childhood or adulthood can include electrocardiogram, echocardiography, or advanced cardiac imaging such as a cardiac MRI.
Medications for congenital heart disease do not fix the structural defect but are prescribed to manage symptoms and improve the long-term health of your or your child’s heart. These include medications that lower blood pressure, reduce heart rate, manage arrhythmia, or prevent blood clots.
A minimally invasive procedure may be used to percutaneously repair certain congenital heart defects in babies and children. A thin, flexible catheter is passed through a blood vessel to the heart, where tools or implants can be used to fix the defect. Septal defects, narrow blood vessels, and heart valve defects can be repaired using this method.
Many cases of congenital heart disease require open heart surgery with a cardiothoracic surgeon to repair or replace damaged tissue.
At Harbourside Cardiology, our team is dedicated to providing holistic, patient-centred care that aligns with the most recent clinical guidelines and research. We are with you every step of your health journey, providing continuity of care of all heart conditions from initial assessment through to treatment and recovery.
