Congenital heart disease: symptoms, diagnosis, treatment, prognosis

By Cristiano Antonino On Apr 3, 2023

Congenital heart disease: some diseases occur in the course of life, others are born with us. In the latter case, we speak of congenital diseases, which include heart disease

When we talk about heart disease, we are essentially talking about pathologies affecting the cardiovascular system (heart and large vessels).

Congenital heart diseases are not all the same and can vary in severity

But how can you tell if a newborn baby has congenital heart disease? How is it treated, and what consequences does it have in everyday life?

We look at the causes, symptoms and treatments, both pharmacological and surgical, of these diseases.

What is the incidence of congenital heart disease?

Fortunately, congenital heart disease is not very common.

Out of every 1,000 children born, there are 2.5 per cent cases of congenital heart disease in a severe form, 3 per cent in a moderate form and up to 13 per cent in milder forms.

What are the types of congenital heart disease?

There can be many malformations and dysfunctions of the heart in the case of congenital heart disease.

A distinction is made between simple forms, when the malformation affects either the septa (interatrial defect, interventricular defect, etc.) or the valvular system; or complex forms, when several defects are present (tetralogy of Fallot). There are also other forms such as transposition of the great vessels (of the large arteries).

What are the causes of congenital heart disease?

Congenital heart diseases are malformations that are present from birth.

The mechanisms that cause their onset are not entirely known, but some are due to the alteration of certain genes in the chromosomes or of the chromosomes themselves; or exposure to teratogenic factors, i.e. any factor that can alter the normal development of an embryo.

The lifestyle adopted by the mother can also cause congenital diseases in some way: alcohol abuse, drug intake, viral infections, chemical abuse, radiation.

Symptoms and signs of congenital heart disease

While some congenital heart diseases are early and show signs of themselves in the first few hours after birth, others are silent for months or years and manifest themselves later, i.e. in adolescence or at a younger age.

The most common symptoms are:

Fatigue during exertion, even if simple
Dyspnoea
Heart murmurs
Arrhythmias
Cyanosis (blue coloured skin)
Slow growth of the child (a slow-growing child should always be reported to his or her paediatrician)
Hypersensation
Fatigue during meals

If not detected in time, complications such as pulmonary oedema, heart failure, hepatomegaly, peripheral oedema of the legs and ankles may occur.

How is congenital heart disease diagnosed?

Although the pathology is very important, especially in severe forms, congenital heart disease is easily diagnosed in most cases.

Thanks to medical advances, it is possible to make a diagnosis as early as during foetal life by means of a fetal echocardiogram or, in cases of late diagnosis, the cardiology specialist will be able to make a diagnosis using the same type of imaging.

In some cases, the specialist may then carry out further investigations such as ECG, CT scan, MRI.

What are the treatments for congenital heart disease?

Congenital heart disease can be successfully treated through:

Cardiac surgery
Interventional haemodynamics
Hybrid therapy, which basically combines the previous two
Conventional cardiac surgery treatment aims to correct the heart defect, generally with the aid of extracorporeal circulation.

Then there is interventional cardiac catheterisation, especially for simple defects. Finally, hybrid therapy combines conventional surgery with cardiac catheterisation.

After surgery, patients must take appropriate drug therapy and follow regular follow-up, sometimes to be continued for life if resolution of the defect has not been complete.

In more severe cases, although more rare, cardiac transplantation may be necessary.

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