Can congenital heart disease be prevented?

Written by: Dr Claudia Montanaro
Edited by: Conor Lynch

Top Doctors recently had the chance to quiz expert consultant cardiologist, Dr Claudia Montanaro, about all things congenital heart disease. Here, the experienced heart disease expert outlines the associated symptoms of the condition, how it is typically diagnosed, and the procedures used to treat it. 

What is congenital heart disease, and what are the causes and symptoms?

Congenital heart disease (CHD) is a condition that affects the structure and function of the heart. It is a type of cardiovascular disease that is present at birth. CHD can range from mild to severe and can affect the heart's walls, valves, or blood vessels. The exact cause of CHD is not known.


However, several factors may contribute to its development. These include infections such as rubella during pregnancy, maternal illnesses such as diabetes or autoimmune disorders, taking drugs like isotretinoin or lithium during pregnancy, maternal obesity, smoking or consuming alcohol during pregnancy, hereditary factors such as family history, chromosomal abnormalities, or genetic mutations.


Symptoms of CHD vary depending on the type and severity of the defect. Some types of CHD may have no symptoms, while others may appear later in life. Common symptoms include irregular heartbeat, cyanosis (bluish skin, lips or nails), digital clubbing (changes in nails), shortness of breath, swelling of tissues or organs, and becoming tired too quickly on exertion.



How is congenital heart disease diagnosed?

Many cases of CHD are diagnosed during routine health check or during pregnancy. The doctor asks relevant questions and performs a physical examination to check blood pressure and listen to heart sounds


Other diagnostic tests include pulse oximetry to estimate oxygen levels in the blood, electrocardiogram (ECG or EKG) to check if electrical activity of the heart is normal, X-rays to evaluate heart and lungs for structural abnormalities and fluid around the lungs, echocardiogram to identify structural abnormalities of the heart, transoesophageal echocardiogram to provide more details than a transthoracic echocardiogram, imaging tests such as cardiac CT scan or MRI to obtain more detailed images of the heart, and a cardiac catheterisation to check blood flow and blood pressure in the heart. 



What are the main treatment options for patients with congenital heart disease?

Minor defects may not require treatment. Others may require medications only, heart devices, catheter procedures, and surgery. Serious cases may require a heart transplant. A person with CHD requires life-long surveillance. 


Procedures used for CHD include catheterisation (inserting a catheter into a vein to the heart using X-ray to visualise and repair heart defects), open heart surgery (performed when catheterisation technique fails), and a heart transplant. 



Can congenital heart disease be prevented?

Pregnant women or women planning on pregnancy can reduce the risk of developing CHD by controlling blood sugar levels, avoiding exposure to rubella virus or being previously immunised against it, and avoiding alcohol and smoking during pregnancy. There is a very small incidence of babies who are born with CHD. The incidence increases mildly if the mother has the condition.


If you'd like to book an appointment today with Dr Claudia Montanaro, you can head over to her Top Doctors profile. 


By Dr Claudia Montanaro

Dr Claudia Montanaro is a highly distinguished consultant cardiologist practising privately at the Royal Brompton Hospital and 77 Wimpole Street Outpatient & Diagnostics. She is also a senior honorary lecturer at the National Heart and Lung Institute, Imperial College. Her main areas of expertise include congenital heart disease, heart disease during pregnancy, cardiac MRI, heart failure, and valvular heart disease. 

Dr Montanaro notably received her cardiology training at San Rafael University Hospital in Milan, where she was awarded honours, and was subsequently appointed as a specialist in adult congenital heart disease and cardiac MRI at the Royal Brompton Hospital. She is fully trained in general adult cardiology and has obtained Level 3 European MRI accreditations in general cardiac and congenital heart disease MRI, as well as obtaining a European Congenital Echocardiogram certification.

Dr Montanaro offers counseling for high-risk family planning and looks after high-risk patients, including those with cardiac disease during pregnancy. Before joining the Royal Brompton Hospital as a consultant, she trained at several other hospitals, including the Royal Brompton Hospital, Barts Heart Centre, Great Ormond Street Hospital, and Guys and St Thomas hospital. 

Dr Montanaro is an associate editor for the International Journal of Cardiology and International Journal of Cardiology Congenital Heart Disease. She is also a reviewer for most major journals in the cardiovascular field. To date, she has authored several peer-reviewed publications, including papers in The Lancet, Circulation, and European Heart Journal.

In addition to her publications, Dr Montanaro has written chapters for several highly regarded cardiology textbooks, including Adult Congenital Heart Disease: Diagnosis and Management, which is now in its fourth edition and is the world’s best-selling textbook in this growing cardiovascular sector. This year, Dr Montanaro was an invited guest speaker at the CPP 2023 conference. 

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