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Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

MedGen UID:
1842277
•Concept ID:
C5680071
•
Congenital Abnormality
Synonyms: DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy; double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018499
Orphanet: ORPHA423712

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDouble outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Recent clinical studies

Diagnosis

Surgical repair of coronary sinus orifice atresia with persistent left superior vena cava in heterotaxia.
Takabayashi S, Shimpo H, Yokoyama K
Gen Thorac Cardiovasc Surg 2007 May;55(5):197-9. doi: 10.1007/s11748-007-0104-z. PMID: 17554993

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