TBX1

(redirected from DORV)
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TBX1

A gene on chromosome 22q11.21 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development.
 
Molecular pathology
TBX1 deletions are associated with DiGeorge/velocardiofacial syndrome, which is characterised by neural-crest developmental defects.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
IntroductionDouble outlet right ventricle (DORV) being a rare entity affects 1-3% of the infant population born with congenital heart disease.1 Characterised by arousal of the aorta and the pulmonary artery from the right chamber of the heart DORV is often associated with other septal or valvular defects with ventricular septal defect (VSD) being the most common.2 Congenital cardiac abnormality appears during the first eight weeks of gestation.
DiscussionConotruncal abnormalities constitute the majority of defects in infants presenting with symptomatic cyanotic congenital heart disease during their first year of life.5Being a complex conotruncal abnormality with substantial anatomic variations DORV has been variably defined by different authors.6 DORV has been listed as a congenital cyanotic heart disease with an admixture of physiology (a cardiac defect which facilitates complete mixing of the deoxygenated systemic venous (SV) blood returning from the tissues and the fully oxygenated pulmonary venous blood from the lungs in a common receiving chamber7) and the degree of cyanosis depends upon the type of DORV present being pronounced in the presence of pulmonary artery stenosis as was seen in our case.
For example, in a child with double outlet right ventricle (DORV), both great arteries leave the right heart (with an obligate VSD).
Patients with associated complex CHD such as TGA, complete atrioventricular septal defect, and DORV were excluded from the study.
Out of 307 operated patients, 4 (1.3%) patients had previous modified Blalock Taussig shunts, 2 (0.6%) associated ASD with TOF, 3 (0.9%) had co-association of PDA, 2 (0.6%) large conal arterial branch crossing at the annulus, 3 (0.9%) dextrocardia with situs inversus, 12(3.9%) TOF with double outlet right ventricle (DORV), 2 (0.6%) with associated complete AV canal defect, 8 (2.60%) with absent pulmonary valve syndrome, 15 (5.5%) with left pulmonary artery stenosis.
PA: Pulmonary Atresia, VSD: Ventricular Septal Defect, MAPCAS: Main Aortopulmonary Collaterals, DORV: Double Oulet Right Ventricle, PS: Pulmonary Stenosis, d TGA: Transposition of Great vessels, TOF- APVS: Tetrology Of Fallot with Absent Pulmonary Valve Syndrome.
To our knowledge, DORV with VSD, right ventricle outlet and pulmonary artery annulus stenosis, APV, and bronchiarctia has not been reported in literature.
Double outlet right ventricle (DORV) is a group of complex congenital heart abnormalities, in which both the pulmonary artery and the aorta arise primarily from the right ventricle.[sup][1] These two great arteries may override the ventricular septum by more than 50%, 90%, or both arteries may arise fully from the right ventricle (200%).[sup][2],[3] DORV is frequently associated with other intracardiac or extracardiac malformations.
The most frequently observed structural CHDs in our study were VSD, AVSD, hypoplastic left ventricle and DORV. In Hoffman's comprehensive screening study (1), the most frequently observed structural CHD was VSD.
Cift cikisli sag ventrikul (DORV) tanisi bulunan bu hastada, restriktif VSD'ye bagli, ileri derecede sol ventrikul hipertrofisi gelismisti.
Double outlet right ventricle (DORV) represents a continuum of congenital heart diseases that ranges from VSD with significant override of the aorta to a common arterial trunk arising completely from the right ventricle.