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Heart Defects

Heart defects affect about 80% of babies with trisomy 13, 90% of babies with trisomy 18 and may be mild or life threatening.

The normal heart

The normal heart

The heart is divided into 4 chambers. The upper chambers are called the atria (auricles) and the lower chambers are called the ventricles. Blood is pumped through these chambers, aided by 4 heart valves which open and close.

Common heart defects

Ventricular Septal Defect - A hole between the lower chambers of the heart. The heart has to work harder and may become enlarged. A small opening does not strain the heart and the only abnormal finding is a loud murmur. A large opening can cause serious complications. The loudness of the murmur does not tell how large the defect is. The baby may need treatment to clear congestion from the lungs and make breathing easier.

Atrial Septal Defect - A hole between the two upper chambers of the heart making it difficult for sufficient oxygenated blood to be pumped to the body's tissues. A heart murmur is heard.

Dextrocardia - The location of the heart in the right side of the chest.

Tetralogy of Fallot - A large hole between the two ventricles and a narrowing at or just beneath the pulmonary valve. This results in blueness (cyanosis) which may appear shortly after birth.

Patent Ductus Arteriosus - Every baby is born with an open passage way between the aorta and the pulmonary artery (ductus arteriosus). This normally closes within a few hours of birth and failure to close is quite common in premature babies. When a baby has a chromosomal abnormality this process may take several weeks and if this fails to happen some of the blood that should have gone through the aorta and on to nourish the body, is returned to the lungs.

A heart murmur was the first problem, also pulmonary hypertension and irreversible lung disease. The cardiologist diagnosed two large holes in the heart and misplaced arteries, but we were advised surgery was not an option as she would not survive the anaesthetic. Recently a heart catheter confirmed the diagnosis and she came through a three hour anaesthetic without problems, so we hope the situation will improve.’(trisomy 13 mosaic).

Our baby, Annabel, had a large hole in the heart and she died from cardiac failure when she was five weeks old.’

Rebecca needed oxygen as the hole in her heart allowed blood from different chambers to mix.’

Emma has three holes in her heart but in her case we have been told they are not life threatening.’

Kaylie gained from 5lb 2 oz to 5lb l5 oz in four weeks but then started to lose weight and when she was two months old the doctor admitted her to hospital with congestive heart failure.’

Gradually Amy grew stronger and eventually we began to take her home for periods. Towards the end of her life, Amy began to show signs of heart failure and gradually tired of life. When she died it was very peaceful. For this we were both grateful.’


There are tests to determine the extent of a heart defect and these will include a physical examination and possibly blood and urine tests. After reviewing the examinations and tests, the heart specialist (cardiologist) will make recommendations about possible treatment and may want to see the child at regular intervals.

Chest X-ray ~ Provides information about the size and shape of the heart and the lungs.

Electrocardiogram ~ Electrical impulses generated by the heart beat are recorded on a graph.

Echocardiogram ~ High frequency sound waves create an image of the heart.

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