AKT · Child health/Congenital heartlow yield

Aortic stenosis (congenital)

Obstruction of left ventricular outflow at the aortic valve (often bicuspid); duct-dependent if critical

Overview

Congenital narrowing of the aortic valve/left ventricular outflow, frequently a bicuspid aortic valve. Mild-moderate is acyanotic with an ejection systolic murmur radiating to the carotids; CRITICAL neonatal aortic stenosis is duct-dependent (systemic circulation) → collapse on duct closure, needing prostaglandin. Risk of sudden death with exercise in severe disease. Associated with Turner syndrome and Williams syndrome (supravalvular).

Recognise

Ejection systolic murmur at the UPPER RIGHT sternal edge radiating to the CAROTIDS, ejection click, slow-rising pulse; thrill
Severe: exertional syncope/chest pain, sudden death risk with exercise; critical neonatal AS → collapse (duct-dependent)
Associations: bicuspid aortic valve, Turner syndrome, Williams syndrome (supravalvular AS + hypercalcaemia)

Red flags

Critical neonatal AS → prostaglandin (duct-dependent) + intervention
Severe AS → restrict competitive exercise (sudden death risk)

Differentials & how to tell them apart

Pulmonary stenosisupper LEFT sternal edge, radiates to back; AS radiates to carotids

HOCMmurmur louder on Valsalva; family history of sudden death

Innocent murmurno click/thrill/radiation, normal echo

Investigations

Echocardiography (valve, gradient, LV); ECG (LV hypertrophy/strain in severe disease); exercise testing in older children.

Management

Balloon valvuloplasty/surgery (prostaglandin first if critical neonatal)

1Grade severity on echo. Significant stenosis: balloon valvuloplasty/surgery; restrict strenuous exercise in severe disease. Critical neonatal AS: prostaglandin (duct-dependent) then intervention.Gate: Severe aortic stenosis carries an exercise sudden-death risk (restrict competitive sport); critical neonatal AS is duct-dependent → prostaglandin; think Turner (bicuspid) and Williams (supravalvular + hypercalcaemia)
2Valvuloplasty/valve surgery (eventual replacement); lifelong follow-up; exercise counselling.

Balloon valvuloplasty / surgical valvotomy — for significant stenosis

Prostaglandin (critical neonatal AS) — maintain duct-dependent systemic flow

Key points

Ejection systolic murmur to the carotids + slow-rising pulse + click = aortic stenosis. Severe disease risks exercise sudden death. Critical neonatal AS is duct-dependent. Bicuspid valve / Turner / Williams (supravalvular).

Monitor & prognosis

Gradient, LV; exercise restriction.

Good with intervention; lifelong valve surveillance.

Source: RCPCH; paediatric cardiology