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Conotruncal heart malformations

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ICD-10 -
  • C1857586
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Conotruncal heart malformations consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies. They account for between one fourth and one third of all nonsyndromic congenital heart defects. Microdeletions of 22q11.2 are found (by fluorescent in situ hybridization, FISH) in 30% of cases of isolated conotruncal anomalies. Identification of these microdeletions is important as they are often associated with mild intellectual deficit. These microdeletions are otherwise found in more than 90% of children with conotruncal cardiac defects associated with facial features, and/or thymus aplasia (Di George or velo-cardio-facial syndrome, see these terms). Studies of families with children with cardiac malformations found that conotruncal malformations carry a higher recurrence risk than other cardiac defects and a monogenic mode of inheritance was proposed. A mutation in the CFC1 gene was found to have a role in the etiology of transposition of the great arteries and double-outlet right ventricle. Other mutations have been found, but no direct correspondence exists between polymorphisms and specific cardiac defects.

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