The murmur in this patient is of pulmonary stenosis, (PS).

Aetiology of pulmonary stenosis

  • Congenital heart disease, most often it is an isolated abnormality but can be associated with:
    • Tetralogy of Fallot
    • Congenital rubella
    • Noonan syndrome
  • Acquired pulmonary stenosis is sometimes seen in carcinoid syndrome

Clinical features

Patients with mild to moderate disease are often asymptomatic but can develop exertional dyspnoea.

Examination features of pulmonary stenosis include the following:

  • normal JVP (in mild cases) but may have giant a waves (in severe cases)
  • Possible left parasternal heave (right ventricular hypertrophy)
  • Ejection systolic murmur (over the pulmonary area)
  • Palpable systolic thrill palpated over the 2nd and 3rd intercostal spaces
  • 4th heart sound may be present
  • Pulmonary ejection click may be present (occurs during systole and gets earlier with more severe stenosis)
  • Increased volume of murmur during inspiration
  • Delayed P2 (increased splitting of S2)
  • May occur in context of previous correction of Fallot’s Tetralogy. Look out for thoracotomy scar from Blalock-Taussig shunt and midline scar from the later complete repair.
  • May develop right heart failure in severe case – elevated JVP, tricuspid regurgitation, hepatomegaly, peripheral oedema
  • Numerous textbooks will talk about radiation to the clavicle, however, this is vanishingly rare in reality. The murmur sometimes radiates to the back.

Investigations

  • Echocardiography used to assess severity
    • Mild: peak gradient < 30mmHg
    • Moderate: gradient 30-50
    • Severe: gradient > 50
  • CXR – post-stenotic dilatation of the pulmonary arteries
  • ECG – signs of R ventricular hypertrophy (right axis deviation, RBBB)

Prognosis and treatment

  • Usually relatively benign. Tends to progress relatively little in adults.
  • Severe or symptomatic disease requires treatment, usually with balloon valvotomy. Following treatment the prognosis is good.
  • Following balloon valvotomy in childhood, some patients may develop pulmonary regurgitation in adult life leading to RV enlargement. Significant PR may require valve replacement.