loading...| Preferred Name |
Conotruncal heart malformations |
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| Synonyms |
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| Definitions |
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2445 |
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| definition |
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445 |
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| hasDbXref |
UMLS:C1857586 OMIM:217095 MeSH:C535464 |
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| label |
Conotruncal heart malformations |
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| notation |
Category ORPHA:2445 |
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| prefixIRI |
ORDO:Orphanet_2445 |
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| prefLabel |
Conotruncal heart malformations |
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| subClassOf |