Pulmonary Valve Stenosis
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Deformity of pulmonary valve, resulting in obstruction of right ventricular (RV) outflow
- Predominant age: congenital, present in newborns but often asymptomatic for years
- Predominant sex: female > male (1)
- African Americans (46.5%), Hispanics (33.1%), and Caucasians (20.4%) (1)
- 10% of all cases of congenital heart disease
- In association with other lesions, may be as high as 25–30% of congenital heart disease (1)
Etiology and Pathophysiology
- Stenosis may be on the valve itself or may be sub- or supravalvular.
- <20% of cases of valvular stenosis are associated with a bicuspid valve.
- RV enlargement tends to occur with pulmonary regurgitation.
- Supravalvular stenosis is usually associated with congenital syndromes.
- Congenital etiologies cause an abnormal development of distal bulbus cordis secondary to:
- Rubella embryopathy (most important etiology)
- Isolated branch pulmonary artery stenosis (stenosis of a sling of the ductus arteriosus)
- Congenital/genetic syndromes described below
- Acquired etiologies:
- Stenosis of bioprosthetic valve
- Rarely, rheumatic fever and carcinoid syndrome
- Genetic causes are likely, with numerous familial and syndromic cases.
- Mutated genes vary depending on the syndrome of which the stenosis forms part. Some of the most important are:
- PTPN11 gene in Noonan and LEOPARD syndromes
- Elastin gene (ELN) in 7q.11.23 locus in Williams-Beuren syndrome
- JAG1 gene in Alagille syndrome
- Matrix Gla protein gene in Keutel syndrome
- NF1 gene in neurofibromatosis
- Family history
- Rubella infection in utero
- Valvular stenosis may cause outflow track narrowing due to RV hypertrophy (RVH), leading to additional subvalvular stenosis.
Rubella vaccination (before conception) to avoid in utero transmission of rubella is the best way to prevent most cases.
Commonly Associated Conditions
- Tetralogy of Fallot
- Noonan and LEOPARD syndromes: dysplastic/supravalvular
- Williams syndrome: supravalvular
- Alagille syndrome: peripheral
- Keutel syndrome: peripheral
- Ventricular septal defect and atrial septal defect (relative stenosis for the increased flow)