CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle
AUTOR(ES)
Goldmuntz, Elizabeth
FONTE
The American Society of Human Genetics
RESUMO
Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease—namely, transposition of the great arteries and double-outlet right ventricle, in the absence of laterality defects—would also have CFC1 mutations. Our analysis of the CFC1 gene in patients with these cardiac disorders identified two disease-related mutations in 86 patients. The present study identifies the first autosomal single-gene defect for these cardiac malformations and indicates that some cases of transposition of the great arteries and double-outlet right ventricle can share a common genetic etiology with heterotaxy syndrome. In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=384955Documentos Relacionados
- Surgical treatment of acyanotic double-outlet right ventricle
- Transatrial repair of double-outlet right ventricle in infants.
- Double-outlet left ventricle. Echocardiographic diagnosis
- SURGICAL CORRECTION OF COMBINED DOUBLE-OUTLET RIGHT VENTRICLE AND TAUSSIG-BING SYNDROME
- Progress in the Understanding of Congenital Heart Disease: Double-Outlet Right Ventricle {S,D,L}, Definition of Ventriculoarterial Discordance, Definition of Transposition of the Great Arteries, and the Illusion of Crisscross AV Relations