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Laubry-Pezzi syndrome

ORPHA:99094 · Morphological anomaly · Disorder

HPO 表現型（共 22 項）

Obligate (100%)(2)

  • Aortic regurgitationHP:0001659
  • Ventricular septal defectHP:0001629

Very frequent (99-80%)(2)

  • Abnormal aortic valve cusp morphologyHP:0031567
  • Aortic valve prolapseHP:0025578

Frequent (79-30%)(9)

  • Abnormal coronary artery morphologyHP:0006704
  • Congestive heart failureHP:0001635
  • Diastolic heart murmurHP:0031668
  • Dilatation of the sinus of ValsalvaHP:0011645
  • Exertional dyspneaHP:0002875
  • FatigueHP:0012378
  • Mildly reduced left ventricular ejection fractionHP:0012663
  • PalpitationsHP:0001962
  • Subarterial ventricular septal defectHP:0011681

Occasional (29-5%)(4)

  • Ascending tubular aorta aneurysmHP:0004970
  • Chest painHP:0100749
  • Left ventricular hypertrophyHP:0001712
  • Perimembranous ventricular septal defectHP:0011682

Very rare (<4-1%)(5)

  • Bicuspid aortic valveHP:0001647
  • Elevated pulmonary artery pressureHP:0004890
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • Right ventricular outlet tract obstructionHP:0001705