Patients with congenital aortic valve stenosis are born with a narrow aortic valve that restricts blood flow from the left ventricle into the aorta. The severity of the stenosis varies between patients and will determine the symptoms.
The aortic valve is normally made up of three leaflets, called the aortic sinuses of Valsalva, which allow blood to flow from the left ventricle into the aorta, but prevent blood from flowing back into the left ventricle. Patients with aortic stenosis may have one, two, three or four leaflets.
Mild aortic stenosis can be completely asymptomatic, discovered as an incidental murmur during a routine examination. More significant aortic stenosis can present with symptoms of fatigue, shortness of breath, dizziness and fainting. Symptoms are typically worse on exertion as the outflow from the left ventricle cannot keep up with demand. Severe aortic stenosis will present with heart failure within months of birth.
The key examination finding is an ejection systolic murmur heard loudest at the aortic area, which is the second intercostal space, right sternal border. It has a crescendo-decrescendo character and radiates to the carotids.
Other signs that may be present on examination are:
- Ejection click just before the murmur
- Palpable thrill during systole
- Slow rising pulse and narrow pulse pressure
The gold standard investigation for establishing a diagnosis is an echocardiogram.
Congenital aortic stenosis tends to be a progressive condition that worsens over time. Patients need regular follow-up under a paediatric cardiologist, with echocardiograms, ECGs and exercise testing to monitor the progression of the condition. Patient with more significant stenosis may need to restrict physical activities.
Options for treating the stenosis are:
- Percutaneous balloon aortic valvoplasty
- Surgical aortic valvotomy
- Valve replacement
- Left ventricular outflow tract obstruction
- Heart failure
- Ventricular arrhythmia
- Bacterial endocarditis
- Sudden death, often on exertion
Last updated January 2020