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Pulmonary Valve Stenosis

Pulmonary Valve Stenosis is a topic covered in the 5-Minute Clinical Consult.

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Basics

Description

Deformity of pulmonary valve, resulting in obstruction of right ventricular (RV) outflow

Epidemiology

Incidence
  • 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)

Prevalence
  • 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

Genetics
  • 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

Risk Factors

  • Family history
  • Rubella infection in utero
  • Valvular stenosis may cause outflow track narrowing due to RV hypertrophy (RVH), leading to additional subvalvular stenosis.

General Prevention

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
  • Neurofibromatosis
  • Williams syndrome: supravalvular
  • Alagille syndrome: peripheral
  • Keutel syndrome: peripheral
  • Ventricular septal defect and atrial septal defect (relative stenosis for the increased flow)

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Citation

Stephens, Mark B., et al., editors. "Pulmonary Valve Stenosis." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2019. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816382/all/Pulmonary_Valve_Stenosis.
Pulmonary Valve Stenosis. In: Stephens MB, Golding J, Baldor RA, et al, eds. 5-Minute Clinical Consult. 27th ed. Wolters Kluwer; 2019. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816382/all/Pulmonary_Valve_Stenosis. Accessed April 20, 2019.
Pulmonary Valve Stenosis. (2019). In Stephens, M. B., Golding, J., Baldor, R. A., & Domino, F. J. (Eds.), 5-Minute Clinical Consult. Available from https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816382/all/Pulmonary_Valve_Stenosis
Pulmonary Valve Stenosis [Internet]. In: Stephens MB, Golding J, Baldor RA, Domino FJ, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2019. [cited 2019 April 20]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816382/all/Pulmonary_Valve_Stenosis.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Pulmonary Valve Stenosis ID - 816382 ED - Stephens,Mark B, ED - Golding,Jeremy, ED - Baldor,Robert A, ED - Domino,Frank J, BT - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816382/all/Pulmonary_Valve_Stenosis PB - Wolters Kluwer ET - 27 DB - Medicine Central DP - Unbound Medicine ER -