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conotruncal heart malformation
Pathology:
- cardiac outflow tract defects
- tetralogy of Fallot
- pulmonary atresia
- double-outlet right ventricle
- both the pulmonary artery & aorta arise from the right ventricle
- truncus arteriosus communis
- single outflow tract instead of a separate aorta & pulmonary artery
- aortic arch anomalies
Genetics:
- associated with defects in CFC1 gene
- associated with defects in TBX1
- associated with defects in GDF1
General
congenital anomaly (birth defect)
genetic disease of the heart
Database Correlations
OMIM 217095
References
OMIM :accession 217095