Cardiovascular

Congenital Heart Disease

Congenital heart disease comprises structural heart or great-vessel abnormalities present from birth; classify the physiology as shunt, obstruction, abnormal mixing or single-ventricle circulation, then recognise duct-dependent neonatal collapse, cyanotic spells, heart failure and the need for lifelong specialist follow-up.

In a nutshell

Classify congenital heart disease by physiology: left-to-right shunts cause pulmonary overcirculation and heart failure, obstructive lesions limit outflow, and right-to-left or mixing lesions cause cyanosis. Critical duct-dependent disease presents with neonatal cyanosis, shock or collapse as the duct closes and needs urgent paediatric cardiac help plus prostaglandin. Echocardiography defines anatomy. A repaired lesion still needs lifelong congenital follow-up, and pregnancy requires specialist planning.

Classic presentation

A neonate becomes cyanosed, shocked or poorly perfused as the ductus arteriosus closes, or an infant has a murmur with tachypnoea, sweating during feeds and failure to thrive.

Key points

Left-to-right shunts are initially acyanotic but can cause pulmonary overcirculation, heart failure and later Eisenmenger syndrome.
Critical duct-dependent disease needs urgent stabilisation, specialist cardiac discussion and prostaglandin infusion according to BNFC/local neonatal formulary.
Echocardiography is the definitive first-line structural test; newborn screening can miss disease, so safety-netting matters.
Weak femoral pulses or radiofemoral delay suggests coarctation; compare brachial and femoral pulses.
A hypercyanotic spell needs help, minimal handling, knee-to-chest positioning, oxygen and specialist escalation.
Significant lesions require lesion-specific catheter or surgical intervention; do not infer severity from a murmur alone.
Adults need lifelong specialist congenital follow-up for residual lesions, arrhythmia, ventricular function, pulmonary hypertension and aortopathy.
NICE does not recommend routine endocarditis-antibiotic prophylaxis for most procedures; give individual current advice and prioritise dental hygiene.

First-line investigation

Urgent clinical examination and pulse oximetry in a neonate, followed by echocardiography; use ECG, blood gases, advanced imaging or catheterisation according to the physiology and specialist plan.

Management

Recognise duct-dependent collapse or a cyanotic spell

Escalate central cyanosis, shock, poor perfusion, severe distress, duct-closure collapse or a prolonged hypercyanotic spell to senior neonatal, paediatric cardiac and critical-care teams.^2,5,6

Stabilise physiology and define anatomy

Use ABCDE care and urgent echocardiography; start prostaglandin according to BNFC/local neonatal guidance when duct-dependent circulation is suspected and arrange transfer to a specialist cardiac centre.^2,4,5

Support feeding, growth and heart failure

Manage pulmonary overcirculation, ventricular failure, hypoxaemia and feeding or growth problems through the congenital cardiac team; the correct preload, oxygen and medication strategy depends on the anatomy.^5,1,4

Repair, palliate or observe the lesion

Use the specialist MDT to decide on surveillance, catheter intervention, surgical repair or staged palliation according to anatomy, symptoms, shunt, ventricular function, pulmonary pressure and growth.^5,1

Continue congenital care into adulthood

Plan transition and lifelong adult congenital follow-up, with pre-pregnancy counselling, medication review, rhythm and ventricular surveillance, tailored exercise advice and current individualised endocarditis prevention information.^5,3,7,1

Exam traps

A negative newborn screen does not exclude every congenital lesion or later-presenting coarctation.
A large left-to-right shunt is not usually cyanotic until pulmonary vascular disease and shunt reversal develop.
Do not wait for echocardiographic confirmation before starting specialist discussion and prostaglandin in a collapsing neonate with suspected duct-dependent disease.
A hypercyanotic spell is not managed by oxygen alone; calm the child, increase systemic vascular resistance and escalate early.
A repaired congenital lesion is not automatically cured and does not remove the need for adult congenital follow-up.

Illustrations

Boot-shaped heart in tetralogy of FallotChest radiograph showing the classic boot-shaped cardiac silhouette of tetralogy of Fallot, with a note that radiography supports but does not replace echocardiographic diagnosis.Medicalpal, Wikimedia Commons · CC-BY-SA-4.0

Key sources

This page is exam revision material, not medical advice, and must not be used for patient care. Always check drug doses against the BNF and current guidance. Full disclaimer.