التفاصيل البيبلوغرافية
| العنوان: |
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries |
| المؤلفون: |
Bruno Dallapiccola, Bruno Marino, Maurizio Marasini, M. Cristina Digilio, Gerardo Piacentini, Alessandra Toscano, Anna Sarkozy, Andrea Zorzi, Rita D'Agostino, M. Giovanna Russo, Rossella Capolino |
| المصدر: |
American journal of medical genetics. Part A. 137(2) |
| سنة النشر: |
2005 |
| مصطلحات موضوعية: |
Proband, Heart Defects, Congenital, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heart disease, Transposition of Great Vessels, familial recurrence, heart defects, transposition of the great arteries, Consanguinity, Risk Factors, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Family Health, Vascular disease, business.industry, Transposition of the great vessels, medicine.disease, Pedigree, Situs inversus, Endocrinology, medicine.anatomical_structure, Great arteries, Cardiology, Female, business, Situs solitus |
| 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 extracardiac 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. © 2005 Wiley-Liss, Inc. |
| تدمد: |
1552-4825 |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6acec87b2cad6f6289df2ccce35a166dTest
https://pubmed.ncbi.nlm.nih.gov/16059940Test |
| حقوق: |
OPEN |
| رقم الانضمام: |
edsair.doi.dedup.....6acec87b2cad6f6289df2ccce35a166d |
| قاعدة البيانات: |
OpenAIRE |
