Professor Samuel Menahem Emeritus head , fetal and paediatric cardiac units , Monash Medical Centre ; department of paediatrics and school of clinical sciences , Monash University ; Australian Centre for Heart Health ; Murdoch Children ’ s Research Institute , University of Melbourne , Victoria .

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This information was correct at the time of publication : 12 July 2024

INTRODUCTION

CONGENITAL heart disease is common

, affecting about 1 % of all live births . 1 Most abnormalities are of little consequence , presenting with a murmur and only requiring longterm follow-up . These lesions include a small ventricular septal defect ( see figure 1 ) mild pulmonary valve stenosis or small patent ductus arteriosus ( see figure 2 ). Innocent murmurs commonly picked up incidentally during a routine examination or an intercurrent illness are similarly managed . 2

Once a diagnosis is confirmed , reassurance is all that is required . However , heart disease in childhood may be serious and life-threatening and , if missed , may have major consequences , including death . 3 It behoves

the GP , paediatrician and cardiologist to recognise such affected infants and children , arrive at a timely and correct diagnosis and institute appropriate interventions that , at times , may be curative .

How then does the practitioner identify these patients ?

A prenatal diagnosis pre-warns the clinician of an underlying cardiac problem that may be confirmed following delivery — often before the onset of symptoms . 4 , 5 The presence of a murmur and / or tachypnoea beyond the first 24-48 hours , cyanosis and poor or differential pulses raise the possibility of a significant cardiac lesion . Newborn pulse oximetry — increasingly carried out in most nurseries — may suggest a serious cardiac abnormality despite minimal clinical signs . 6

The onset of a murmur and tachypnoea over the first few weeks of the baby ’ s life points to a significant leftto-right shunt . 3 , 7 A murmur noted when an infant or child is seen with an intercurrent illness may suggest a cardiac abnormality as most , but not all , congenital heart disease ( CHD ) generates a murmur .

Inflammatory disorders , such as rheumatic fever or Kawasaki disease , warrant careful cardiac review — as does the so-called ‘ silent ’ heart : a cardiomyopathy or myocarditis seen in infants or children who often present with an intercurrent respiratory infection that may be blamed for tachypnoea , if present . 8-11 Palpitations and / or chest pain , commonly seen in adolescents , is rarely due to an arrhythmia or ischaemic heart disease , respectively ,

each requiring further investigations , as does an unexplained collapse or

12 , 13 loss of consciousness .

This How to Treat covers the identification of heart disease in childhood and aims to ensure GPs can identify the innocuous and more serious conditions and treat and refer as required .

PRENATAL DIAGNOSIS OF HEART DISEASE

ALMOST all women in Australia have

an obstetric ultrasound , often at the end of the first trimester , and then a more detailed morphological scan at 20-22 weeks . Subsequent scans are dictated by ongoing concerns . The initial scan in skilled hands may diagnose a major cardiac anomaly , such as a hypoplastic left heart syndrome