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Congenital total pulmonary venous return anomaly

ORPHA:99125 · Morphological anomaly · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(1)

  • Respiratory distressHP:0002098

Frequent (79-30%)(9)

  • Atrial septal defectHP:0001631
  • Atrial situs ambiguousHP:0011539
  • CyanosisHP:0000961
  • Exertional dyspneaHP:0002875
  • FatigueHP:0012378
  • Paroxysmal dyspneaHP:0012763
  • Pulmonary arterial hypertensionHP:0002092
  • Supracardiac total anomalous pulmonary venous connectionHP:0011719
  • TachycardiaHP:0001649

Occasional (29-5%)(25)

  • Apneic episodes in infancyHP:0005949
  • Cardiac total anomalous pulmonary venous connectionHP:0011720
  • CardiomegalyHP:0001640
  • DextrocardiaHP:0001651
  • Double outlet right ventricleHP:0001719
  • HepatomegalyHP:0002240
  • HeterotaxyHP:0030853
  • Hypoplastic left ventricleHP:0004383
  • Increased anterioposterior diameter of thoraxHP:0005253
  • Infracardiac total anomalous pulmonary venous connectionHP:0011721
  • Low 1-minute APGAR scoreHP:0030918
  • Low 5-minute APGAR scoreHP:0030919
  • Low-output congestive heart failureHP:0009805
  • Mixed total anomalous pulmonary venous connectionHP:0011722
  • PallorHP:0000980
  • Patent ductus arteriosusHP:0001643
  • Poor suckHP:0002033
  • Pulmonary artery stenosisHP:0004415
  • Pulmonary hypoplasiaHP:0002089
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Right ventricular failureHP:0001708
  • Single ventricleHP:0001750
  • Tricuspid regurgitationHP:0005180
  • Ventricular septal defectHP:0001629

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

  • Coarctation of aortaHP:0001680
  • Hypoplastic aortic archHP:0012304
  • Mitral atresiaHP:0011560
  • Mitral regurgitationHP:0001653
  • Transposition of the great arteriesHP:0001669