conotruncal heart malformation

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conotruncal heart malformation2016-11-25T13:08:47+00:00

conotruncal heart malformation

conotruncal heart malformation image from New Medical Terms

conotruncal heart malformation

CARDIOLOGY, EMBRYOLOGY

Definition A congenital heart disorder (OMIM:217095) characterised by cardiac outflow tract defects–e.g., tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.

Molecular pathology Defects of CFC1, which encodes a member of the epidermal growth factor Cripto, Frl-1, Cryptic–CFC family involved in signalling during embryonic development, cause double-outlet right ventricle, a type of conotruncal heart defect. CTHM is a genetic locus on chromosome 22q11 which is thought to contain a gene that causes or increases susceptibility for cono-truncal heart malformation.

Synonyms Double outlet right ventricle, interrupted aortic arch, persistent truncus arteriosus, truncus arteriosus communis

References http://www.uniprot.org/uniprot/Q71F56

http://www.omim.org/entry/217095 

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