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Congenital heart disease

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Congenital heart disease - its not always awful news

Dr Shankar Sridharan MBBS BSc MRCPCH is a paediatric cardiologist at Bupa Cromwell Hospital and Great Ormond Street Hospital.

Confirming that a child has a heart problem is upsetting for any family, but It is important to remember that there is a huge variation in the severity, impact and management of lesions. Congenital heart disease in children may often be managed in the clinic without the need for interventional procedures or child heart surgery. A rapid and accurate diagnosis together with a kind empathic approach best serves the child’s family and GP.

Are heart defects in children common?

Heart defects are the most common congenital problem seen in babies, occurring in 7-8 per 1000 live births. Congenital heart disease comprises of genetic heart disease and structural abnormalities of the heart or great vessels.

Why are heart defects often missed?

Despite advances in fetal medicine, antenatal screening and the implementation of postnatal baby checks in the UK, approximately one third of infants with life-threatening CHD leave hospital undiagnosed 1

These infants then often first present to front-line NHS health services including General Practitioners and A&E departments. An awareness that illness in a young child may be due to cardiac disease is a valuable clinical aid during assessment, as often clinical signs overlap in young infants, and it can be difficult to discern the underlying aeitiology.

Congenital heart chart 1

Common Signs and Symptoms

Clinical history, examination and a suspicion that a heart problem may be present are important factors in making a diagnosis.

A) Murmurs

i) Presentation with a heart murmur at the 6-8 week check

Approximately 45% of cardiac malformations are detected before a child’s first birthday. Around 50% of murmurs heard at the 6-8 week check reflect underlying structural cardiac issue. Murmurs may not manifest initially as pulmonary pressures may take a few days to fall following transition from a fetal to postnatal circulation.

Urgent referral is warranted if there is associated heart failure (poor feeding, tachypnoea or hepatomegaly) and/or cyanosis, as an emergency if necessary. If a murmur is heard and the baby is otherwise well, review again in a week to assess for ongoing presence. If still present, refer to paediatric cardiology.

ii) Presentation with a murmur in infants and children

Murmurs are a common finding in childhood. Most of these murmurs are innocent murmurs and are not due to congenital heart disease. These murmurs are usually generated as a consequence of the blood flowing at speed around tight corners and bends in a relatively smaller heart (as compared to an adult). Innocent murmurs become more apparent during times when the heart works a little harder (producing more turbulence) such as during fever or exertion.

Patients are often referred to a paediatric cardiologist for assessment following the finding of a cardiac murmur. Many clinicians feel uncomfortable about classifying a murmur as ‘innocent’ until formal paediatric cardiac review as they are concerned that an underlying cardiac problem may be missed. This is in part due to the fact that mild defects such as a small VSD produce a loud murmur whereas larger haemodynamically more important septal defects may only give rise to a very soft gentle murmur as a consequence of the flow characteristics (the diagnosis is always easier with an echo machine).

Characteristics of an innocent murmur

  • The murmur is soft with no diastolic component

  • There is a normal second heart sound

  • It may vary with position but does not radiate

  • There are no other signs or symptoms of heart disease

B) Presentation with cyanosis

Cyanosis in babies is uncommon and usually indicates a serious issue. Low oxygen saturations may be difficult to assess in a GP surgery.

Later presentation in infancy is mostly due to cases of important pulmonary stenosis or tetralogy of Fallot. Perioral cyanosis can be a common finding in young children and may be due to environmental changes in temperature.

C) Presentation with heart failure

If a heart defect is undiagnosed and the circulation is insufficient, an infant may present later with symptoms or signs of heart failure. These include:

  • Breathlessness particularly when crying for feeding

  • Tachypnea with or without tachycardia

  • Failure to thrive and/or difficulty feeding

  • Hepatomegaly and, weight increase due to fluid retention

The most likely causes of heart failure in neonates include left heart lesions such as severe aortic stenosis and coarctation of the aorta. In older infants and children, large VSDs, patent ductus arteriosus and ASDs may cause heart failure.

Signs and symptoms of heart disease in children


  • Cyanosis – (perioral cyanosis is common in young infants)

  • Murmur

  • Tachycardia

  • Tachypnoea/respiratory distress (young infants)

  • Weak femoral pulse

  • Hypertension


  • Breathlessness

  • Failure to thrive

  • Chest pain (older children) (check if upon exertion)

  • Exercise intolerance

  • Palpitations or syncope (check FHx)

Congenital heart chart 2

Who should be referred

Patients are often referred to a paediatric cardiologist for assessment following the suspicion of heart disease from either clinical signs such as cyanosis, following the detection of heart murmurs in children or due to symptoms such as breathlessness, and poor weight gain. Chest pain is a common complaint in older children and review can often exclude a cardiac pathology and provide reassurance.

Babies or children with a syndrome, or proven chromosomal problem, are often at much higher risk of having a coexisting heart problem e.g. Downs Syndrome (Trisomy 21) where up-to 60% of patients have some form of heart disease.

A family history of heart problems in siblings or relatives or genetic cardiac conditions should also prompt referral. These includes conditions such as:

Cardiomyopathies where there is an underlying heart muscle problem.

Connective tissue disorders - Marfans syndrome and Ehlers Danlos.

Inherited arrhythmic conditions including chanellopathies such as Long QT syndrome and Brugada syndrome that may present with tachycardia or syncope.

1. Wren, C et al 2008. Arch Dis Child Fetal Neonatal Ed. Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations.

For further information about our services please contact our GP Liaison Team on +44 (0)20 7460 5973.