What Is Adult Congenital Heart Disease?

When congenital heart disease is mentioned, infancy or childhood usually comes to mind; yet there is a reality we now meet frequently among the adult patients who come to our clinic: congenital heart conditions that were successfully operated on in childhood, or that went entirely unnoticed as the person grew up, also require close follow-up in adulthood. In this article I will explain what adult congenital heart disease means, its most common forms, and when we need to suspect it.

What Does Congenital Heart Disease in Adults Mean, and Why Has It Become So Much More Common?

Congenital heart disease is a structural difference that arises during the development of the heart in the womb; it covers situations such as a hole between the chambers of the heart where there should not be one, vessels arising in the wrong position, or a valve that has not developed fully. We can think of it rather like a cable being connected to the wrong place while the heart’s electrical wiring was being installed. Thanks to the great advances in pediatric cardiac surgery over the past 20-30 years, many patients who were once lost in childhood now reach adulthood; this has made the adult congenital heart disease population larger today than the childhood congenital heart disease population.

What Are the Most Common Congenital Heart Diseases?

Atrial Septal Defect (ASD): This is a hole in the wall between the two atria of the heart, and when it is small it can go unnoticed for years. Ventricular Septal Defect (VSD): This is an opening in the wall between the two ventricles of the heart; depending on its size it is either closed in childhood or may require follow-up into adulthood. Patent Ductus Arteriosus (PDA): This is when a vascular channel that should normally be present in the womb, and should close after birth, remains open. Coarctation of the Aorta: This is a congenital narrowing at a particular segment of the main artery, and it usually presents together with high blood pressure. Bicuspid Aortic Valve: This is when the aortic valve develops with two leaflets instead of three; I also covered this subject in my article on heart valve diseases. Tetralogy of Fallot: Even when it has been operated on in childhood, this is a complex congenital anomaly that requires lifelong follow-up because of late problems in adulthood such as heart rhythm disturbances or valve regurgitation.

Why Does It Come Back on the Agenda in Adulthood?

We encounter two different scenarios. The first is a small defect that went completely unnoticed because it ran such a mild course in childhood, and which begins to cause symptoms in adulthood because of the extra load it has placed on the heart chambers over the years. The second consists of late problems in patients who were successfully operated on in childhood, such as heart rhythm disturbances, valve regurgitation or a rise in pressure in the lung vessels, which can appear years after the operation. For this reason, rather than abandoning follow-up on the assumption that ‘I had my operation, I am cured’, we recommend that these patients be monitored at regular intervals for life.

What Are the Symptoms, and When Should We Suspect It?

More shortness of breath than expected during exertion or tiring easily, palpitations, chest pain, sudden fainting episodes and, in some advanced cases, a bluish discoloration of the lips and fingertips (cyanosis) are the symptoms we need to watch for. We also keep the possibility of a congenital heart condition in mind in adults who had frequent chest infections in childhood, had growth delay, or were followed up because of a murmur but later dropped out of follow-up.

How Do We Screen and Follow Up?

Echocardiography again lies at the heart of diagnosis and follow-up; where needed, we turn to cardiac magnetic resonance imaging (MR) or computed tomography (BT) to clarify complex anatomical structures. We recommend that every adult who was operated on in childhood for congenital heart disease be monitored at regular intervals, even if everything appears to be fine; in women planning a pregnancy in particular, this follow-up must be reviewed before conception, because some congenital heart conditions can carry additional risk during pregnancy.

Frequently Asked Questions

I was operated on as a child; can I now be considered completely well? Most of the time the operation is life-saving and lasting, but because of problems that can emerge years later in some congenital heart conditions, we recommend regular lifelong follow-up.

Does a small ASD/VSD require treatment? Not always. In small defects that cause no symptoms, regular monitoring may be sufficient; the decision depends on the size of the defect and the load it places on the heart.

Can congenital heart disease be diagnosed for the first time in adulthood? Yes. In some of our patients the condition goes entirely unnoticed in childhood and comes to light for the first time in adulthood, during an incidental examination or while a complaint is being investigated.

I am planning a pregnancy and I have congenital heart disease; what should I do? We recommend that you always undergo an assessment before pregnancy; some congenital heart conditions require additional close monitoring during pregnancy.

In Summary

Adult congenital heart disease has now become an important part not only of pediatric cardiology but of adult heart health as well. Whether it is a small defect that went unnoticed in childhood or a complex anomaly operated on years ago, with the right diagnosis and regular follow-up these patients can lead a healthy and active life.

If you have a known history of a heart murmur or congenital heart disease from childhood, or if you have complaints such as unexplained shortness of breath or palpitations, you can book an appointment for a detailed echocardiographic assessment.

References

1. Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease. Circulation. 2019;139(14):e698-e800.
2. Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC Guidelines for the Management of Adult Congenital Heart Disease. Eur Heart J. 2021;42(6):563-645.
3. Marelli AJ, Ionescu-Ittu R, Mackie AS, et al. Lifetime Prevalence of Congenital Heart Disease in the General Population from 2000 to 2010. Circulation. 2014;130(9):749-756.
4. van der Linde D, Konings EE, Slager MA, et al. Birth Prevalence of Congenital Heart Disease Worldwide: A Systematic Review and Meta-Analysis. J Am Coll Cardiol. 2011;58(21):2241-2247.