title: [Quadricuspid aortic valve--10-year case series and literature review].
abstract: BACKGROUND
  Quadricuspid aortic valve is a rare malformation, with an estimated incidence of 0.003 to 0.043% of all congenital heart disease. It usually appears as an isolated congenital anomaly, but may also be associated with other malformations, the most common being coronary artery anomalies. Current technology enables noninvasive diagnosis in most cases. This entity's natural history is progression to valve regurgitation, which is rare before adulthood.
  
  
  OBJECTIVE
  Case review of quadricuspid aortic valve patients diagnosed in the last 10 years in a tertiary pediatric cardiology center.
  
  
  METHODS
  Retrospective chart review of patients diagnosed with quadricuspid aortic valve between January 2000 and December 2009.
  
  
  RESULTS
  Over the past 10 years, four cases of quadricuspid aortic valve were diagnosed in children aged between 6 months and 8 years, two male. In three cases, the four leaflets were of similar size, which is the most common finding. Two of the valves functioned normally and two had minimal regurgitation. All patients had associated cardiac malformations (one atrial and two ventricular septal defects, one supravalvular aortic stenosis and one quadricuspid pulmonary valve). One patient was also diagnosed with Williams syndrome. During a median follow-up of 2 years (0-9), all patients remained asymptomatic and none required medical or surgical treatment of the aortic valve.
  
  
  CONCLUSIONS
  Diagnosis of quadricuspid aortic valve is rare, especially in children, since most patients are asymptomatic and have normally functioning valves. In this study, half the patients had minimal aortic regurgitation. Contrary to what is described in the literature, all patients had concomitant cardiac malformations. We provide the first description of this entity's association with Williams syndrome. Clinical follow-up should be maintained in these patients in order to promptly detect the onset or worsening of functional alterations and to enable appropriate therapeutic intervention.
authors: Serviço de Cardiologia Pediátrica do Hospital de Santa Marta, CHLC - EPE, Lisboa, Portugal. sdgouveia@gmail.com
authors: Sofia
authors: S
authors: Gouveia
authors: José Diogo Ferreira
authors: JD
authors: Martins
authors: Glória
authors: G
authors: Costa
authors: Filipa
authors: F
authors: Paramés
authors: Isabel
authors: I
authors: Freitas
authors: Mónica
authors: M
authors: Rebelo
authors: Conceição
authors: C
authors: Trigo
authors: Fátima F
authors: FF
authors: Pinto
mesh_terms: D001021:Aortic Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D013997:Time Factors; D014463:Ultrasonography