دورية أكاديمية
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries
| العنوان: | Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries |
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| المؤلفون: | Gerardo Piacentini, M. Cristina Digilio, Rossella Capolino, Andrea De Zorzi, Alessandra Toscano, Anna Sarkozy, Rita D'Agostino, Maurizio Marasini, M. Giovanna Russo, Bruno Dallapiccola, MARINO TAUSSIG DE BODONIA, Bruno |
| المساهمون: | Gerardo, Piacentini, M., Cristina Digilio, Rossella, Capolino, Andrea De, Zorzi, Alessandra, Toscano, Anna, Sarkozy, Rita, D'Agostino, Maurizio, Marasini, M., Giovanna Russo, Bruno, Dallapiccola, MARINO TAUSSIG DE BODONIA, Bruno |
| بيانات النشر: | WILEY-LISS |
| سنة النشر: | 2005 |
| المجموعة: | Sapienza Università di Roma: CINECA IRIS |
| مصطلحات موضوعية: | familial recurrence, heart defect, transposition of the great arteries |
| الوصف: | Familial recurrence of congenitally corrected transposition of the great arteries (CCTGA) is considered uncommon. Most of. the previous familial studies involved a small number of patients and referred to all situs and looping anomalies including single ventricle, heterotaxia, and other cardiac defects different from CCTGA. We performed a large, consecutive clinical case series study in order to detect the recurrence of congenital heart defects in families of children with the classic form of CCTGA. From January 1997 through December 2004, 102 consecutive patients with CCTGA were evaluated in four institutions. There were 59 male (57.8%) and 43 female (42.2%). Mean age was 8.6 +/- 7.8 years. Eighty-eight patients (86.3%) had situs solitus of the atria, 14 (13.7%) situs inversus. The cardiac and extracardiae anomalies among relatives and the patterns of familial recurrence were investigated. Relatives with congenital heart defects were found in 16/102 families (15.7%). Transposition of the great arteries (TGA) was the most common recurrent defect (6/102 families). Consanguinity was identified in the parents of three probands. Six probands had an unaffected twin-sib. Recurrence risks for congenital heart defects were calculated at 5.2% (6/116) for siblings. In conclusion, CCTGA is not always sporadic in families. The pattern of inheritance, the presence of consanguinity among parents and the recurrence of situs inversus could suggest, in some families, an autosomal recessive mechanism with similarities with that occurring in some pedigrees with heterotaxia. The recurrence of TGA and CCTGA in the same family suggests a pathogenetic link between these two anatomically different malformations. (c) 2005 Wiley-Liss, Inc. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/16059940; info:eu-repo/semantics/altIdentifier/wos/WOS:000231634600010; volume:137A; issue:2; firstpage:176; lastpage:180; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/111606Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-24344440728; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000231634600010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-24344440728&partnerID=65&md5=651ce2a25b41ce0f13cb7e6289bd11a9Test |
| DOI: | 10.1002/ajmg.a.30859 |
| الإتاحة: | https://doi.org/10.1002/ajmg.a.30859Test http://hdl.handle.net/11573/111606Test http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000231634600010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest http://www.scopus.com/inward/record.url?eid=2-s2.0-24344440728&partnerID=65&md5=651ce2a25b41ce0f13cb7e6289bd11a9Test |
| رقم الانضمام: | edsbas.3C6460F8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/ajmg.a.30859 |
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