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Pulmonary stenosis (PS) accounts for approximately 8% of all congenital heart defects.1 Valvular PS is usually an isolated defect, but it can be associated with other congenital heart defects, such as atrial septal defect (ASD), ventricular septal defect (VSD), and persistent ductus arteriosus. Combined valvular and infundibular PS can be part of tetralogy of Fallot (ToF).
The clinical presentation of PS may vary from critical stenosis in the newborn, to asymptomatic mild stenosis without need for therapy throughout life. The need for treatment of critical PS in the newborn is obvious, but the optimal timing, type of treatment, and follow-up strategy for the asymptomatic patient is less well defined.
PS occurs in about 1 per 2000 live births worldwide.1 The prevalence seems to be steadily increasing over time (figure 1A). There is a slightly higher birth prevalence in Asia as compared to Europe and the USA1 (figure 1B). The underlying cause is not well known, but should be sought in genetic, environmental, and dietary factors. There is increasing evidence that epigenetic modifications play an important role in certain diseases apart from genetics, and this might also be true for PS.w1 w2 Since an increasing number of patients had surgical or interventional repair during childhood, more and more adults will be seen with long term residual lesions like pulmonary regurgitation (PR) and restenosis.
Morphologic classification and aetiology
PS can be valvular, subvalvular (infundibular) or supravalvular (figure 2A). Valvular stenosis is by far the most common form.