التفاصيل البيبلوغرافية
| العنوان: |
321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations. |
| المؤلفون: |
Parisot, Pauline, Bajolle, Fanny, Attié-Bittach, Tania, Thomas, Sophie, Goudefroye, Géraldine, Abadie, Véronique, Lyonnet, Stanislas, Bonnet, Damien |
| المصدر: |
Archives of Cardiovascular Diseases Supplements; Jan2010, Vol. 2 Issue 1, p104-105, 2p |
| مستخلص: |
Background: CHARGE syndrome (MIM 214800) consists of a combination of congenital malformations including Coloboma, Heart defects, Atresia of choanae, Retardation of growth and developmental delay, Genital anomalies and Ear anomalies. Diagnosis criteria have been recently refined and several other features have been described such as semi-circular canals and cranial nerve anomalies. A CHD7 gene mutation is found in 60% of patients with a clinical diagnosis of CHARGE syndrome. Although frequently found, cardiovascular malformations (CVM) are not specific. Methods: In our series, 85% of CHARGE patients with CHD7 mutation have a CVM. We report on the spectrum of CVM in 65 CHD7 mutated patients (including 15 fetuses). All patients were precisely assessed for their cardiac phenotype by echocardiography, CT scan or pathology. Results: Conotruncal malformations (n=16), aortic arch anomalies (n=10) and atrioventricular septal defects (n=15), were the most frequent CVM. A rare association of atrioventricular septal defect and transposition of the great arteries was described in one patient. Despite the small number of mutated cases, our data suggest that hypomorphic mutations (missense, splice sites) are less frequently associated to a heart defect than nonsense and frameshift mutations. Conclusions: Although being a minor criteria because of lack of specificity, CVM proved to be very frequent in CHD7 mutated CHARGE patients. The neural crest cells origin hypothesis of the CVM cannot account for all observed defects. Cardiac progenitor cells of the second heart field might be implicated in embryological mechanisms leading to CVM in CHARGE syndrome. [Copyright &y& Elsevier] |
|
Copyright of Archives of Cardiovascular Diseases Supplements is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Supplemental Index |
Full Text Finder