Truncus Arteriosus, Persistent: A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.DiGeorge Syndrome: Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.Truncus Arteriosus: The arterial trunk arising from the fetal heart. During development, it divides into AORTA and the PULMONARY ARTERY.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Tetralogy of Fallot: A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.Pulmonary Atresia: A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS).Velopharyngeal Insufficiency: Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.Abnormalities, MultipleDouble Outlet Right Ventricle: Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted.Endocardial Cushion Defects: A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.Abortion, Eugenic: Abortion performed because of possible fetal defects.Heart Septal Defects, Ventricular: Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.Heart Septal Defects: Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.Neural Crest: The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.Chromosome Deletion: Actual loss of portion of a chromosome.Heart: The hollow, muscular organ that maintains the circulation of the blood.Cardiovascular Abnormalities: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.Echocardiography, Four-Dimensional: Dynamic three-dimensional echocardiography using the added dimension of time to impart the cinematic perception of motion. (Mayo Clin Proc 1993;68:221-40)Aortopulmonary Septal Defect: A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE).Transposition of Great Vessels: A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants.Cleft Palate: Congenital fissure of the soft and/or hard palate, due to faulty fusion.Syndrome: A characteristic symptom complex.Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Fetal Heart: The heart of the fetus of any viviparous animal. It refers to the heart in the postembryonic period and is differentiated from the embryonic heart (HEART/embryology) only on the basis of time.Cleft Lip: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.Chick Embryo: The developmental entity of a fertilized chicken egg (ZYGOTE). The developmental process begins about 24 h before the egg is laid at the BLASTODISC, a small whitish spot on the surface of the EGG YOLK. After 21 days of incubation, the embryo is fully developed before hatching.Ultrasonography, Prenatal: The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.Folic Acid: A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (POACEAE). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Face: The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.CaliforniaMethylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 1.1.1.171.Ventricular Function: The hemodynamic and electrophysiological action of the HEART VENTRICLES.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Infant, Newborn: An infant during the first month after birth.Morphogenesis: The development of anatomical structures to create the form of a single- or multi-cell organism. Morphogenesis provides form changes of a part, parts, or the whole organism.Heart Ventricles: The lower right and left chambers of the heart. The right ventricle pumps venous BLOOD into the LUNGS and the left ventricle pumps oxygenated blood into the systemic arterial circulation.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Karyotyping: Mapping of the KARYOTYPE of a cell.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Myocardium: The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Calcium Gluconate: The calcium salt of gluconic acid. The compound has a variety of uses, including its use as a calcium replenisher in hypocalcemic states.Parathyroid Hormone: A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates.Infusions, Intravenous: The long-term (minutes to hours) administration of a fluid into the vein through venipuncture, either by letting the fluid flow by gravity or by pumping it.Parathyroid Glands: Two pairs of small oval-shaped glands located in the front and the base of the NECK and adjacent to the two lobes of THYROID GLAND. They secrete PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.Hyperparathyroidism, Secondary: Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY.CitratesGluconates
PLG Conotruncal anomaly face syndrome; 217095; TBX1 Contractural arachnodactyly, congenital; 121050; FBN2 Convulsions, benign ...
Burn, J; Takao, A; Wilson, D; Cross, I; Momma, K; Wadey, R; Scambler, P; Goodship, J (October 1993). "Conotruncal anomaly face ... Symptoms shown to be common include: Congenital heart disease (40% of individuals), particularly conotruncal malformations ( ... and conotruncal anomaly face syndrome. All are now understood to be presentations of a single syndrome. ICD-10 2015 version ...
They develop on the atrioventricular canal and conotruncal region of the bulbus cordis. During heart development, the heart ...
"118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects". BMC Medical Genetics. 10: 49. doi: ...
"A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects". Am J Hum Genet. 65 ( ...
Velocardiofacial syndrome is marked by the association of congenital conotruncal heart defects, cleft palate or velar ... conotruncal heart defects, and a characteristic facial appearance. ...
Conotruncal Anomaly Face syndrome, Opitz G/BBB Syndrome, and Cayler Cardiofacial Syndrome. The effects of this disorder are ...
In humans, proper NKX2-5 expression is essential for the development of atrial, ventricular, and conotruncal septation, ...
... and conotruncal or valvular cardiac defects. Tetrasomy X patients also appear to be more prone to seizure activity, although ...
These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or ... sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a ...
... and conotruncal heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)( ...
... with pseudomembrane Conjunctivitis Connective tissue dysplasia Spellacy type Connexin 26 anomaly Conn's syndrome Conotruncal ...
... and conotruncal heart defects, which include tetralogy of Fallot, double outlet right ventricle, transposition of the great ...
... conotruncal heart defects and facial dysmorphology. ARVCF gene encodes a protein containing two motifs, a coiled coil domain in ...
... conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 ...
Sacral defect anterior sacral meningocele Sacral hemangiomas multiple congenital abnormalities Sacral meningocele conotruncal ...
... and displays conotruncal defects (tetralogy of Fallot, single left coronary artery). Published version Max J Dörfel, Gholson J ...
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11»։ J. Med. Genet. 30 (10): 822-4։ ... conotruncal) և դեմքի անոմալիաների համախտանիշը: Ներկայումս այս բոլորը համարվում են միևնույն համախտանիշը: Հիվանդությունների ...
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Human Genetics. 1998 Sep 8;103(1):70-80. ... Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. In: Human Genetics. 1998 ; Vol. 103, No. 1 ... Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. / Matsuoka, Rumiko; Kimura, Misa; Scambler ... To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion ...
However, like other conotruncal defects of the heart, it is speculated that DORV may have a neural crest origin. The neural ...
Conotruncal and related heart defects (CTDs) are a group of serious and relatively common birth defects. Although both maternal ... Conotruncal and related heart defects (CTDs) are a group of serious and relatively common birth defects. Although both maternal ... Conotruncal and related malformations (CTDs) form one of the most common subgroups, accounting for approximately one-third of ... 2009) 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med Genet 10: 49. * View ...
These observations indicate that myocardial progenitors from the SHF and AHF contribute to distinct conotruncal regions and ...
Conclusions: Intramural VSDs are common after repair of conotruncal anomalies and tend to be larger than non-intramural VSDs. ... Methods: We reviewed all patients at our institution who underwent biventricular repair of a conotruncal anomaly involving VSD ... Abstract 14058: Intramural Ventricular Septal Defects After Repair of Conotruncal Anomalies Are Associated With Postoperative ... Abstract 14058: Intramural Ventricular Septal Defects After Repair of Conotruncal Anomalies Are Associated With Postoperative ...
conotruncal cardiac defects. endocrine disorders. genetic diseases and dysmorphic syndromes. hypoparathyroidism. pulmonary ... Hypoparathyroidism Tetralogy of Fallot Pulmonary Valve Stenosis Conotruncal Cardiac Defects Heart Defects, Congenital Pulmonary ... Diagnostically shown repaired or palliated conotruncal cardiac defects, including tetralogy of Fallot with pulmonary stenosis ... OBJECTIVES: I. Identify latent hypoparathyroidism in normocalcemic adult survivors with repaired conotruncal cardiac defects, ...
What is conotruncal anomaly-face syndrome? Meaning of conotruncal anomaly-face syndrome medical term. What does conotruncal ... Looking for online definition of conotruncal anomaly-face syndrome in the Medical Dictionary? conotruncal anomaly-face syndrome ... redirected from conotruncal anomaly-face syndrome) DiGeorge Syndrome. Definition. DiGeorge syndrome (also called 22q11 deletion ... Synonym(s): CATCH 22, congenital aplasia of thymus, conotruncal anomaly-face syndrome, immunodeficiency with hypoparathyroidism ...
Introduction: Repaired conotruncal anomaly patients frequently have residual branch pulmonary artery (BPA) stenosis or size ... Abstract 20997: In Postoperative Conotruncal Anomalies Patients Differential Branch Pulmonary Artery Regurgitant Fraction is a ... Abstract 20997: In Postoperative Conotruncal Anomalies Patients Differential Branch Pulmonary Artery Regurgitant Fraction is a ... Abstract 20997: In Postoperative Conotruncal Anomalies Patients Differential Branch Pulmonary Artery Regurgitant Fraction is a ...
... were associated with risks of conotruncal heart defects. Further, we evaluated interaction effects between these gene variants ... Thymidylate synthase polymorphisms and risk of conotruncal heart defects.. @article{Zhu2012ThymidylateSP, title={Thymidylate ... were associated with risks of conotruncal heart defects. Further, we evaluated interaction effects between these gene variants ... synthase polymorphisms and risk of conotruncal heart defects.}, author={Huiping Zhu and Wei Yang and Nathan M Shaw and Spencer ...
Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroidism, T-cell mediated immune ... and conotruncal anomaly face syndrome, and in some patients with Cayler cardiofacial and autosomal dominant Opitz-G/BBB ... 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.. @article{Cuneo200122q112DS, ... Classic features are dysmorphic facies, conotruncal cardiac defects, hypocalcemic hypoparathyroidism, T… CONTINUE READING ...
We identified 140 conotruncal cases and randomly selected 280 specimens as nonmalformed controls. Specimens were tested for a ... Each womans specimen was linked with delivery information to determine whether her fetus had a conotruncal heart defect or ... Our prospective study attempted to extend information on nutrition and conotruncal heart defects by measuring analytes in mid- ... between use of vitamin supplements with folic acid in early pregnancy and reduced risk for offspring with conotruncal heart ...
... and alignment of the conotruncal septum with the interventricular septum.. Pulmonic stenosis results when conotruncal septation ... Conotruncal Development and Septal Spiral. TGA with Ventricular Inversion (L-TGA): Clockwise Spiral. D-TGA: Nonspiraling Septum ... Anterior shifting of the conotruncal ridges also causes pulmonic hypoplasia and stenosis.. (Figures from Gurvitz, M. General ... It may also occur at the level of the infundibulum if the conotruncal septum is not aligned with the bulboventricular septum, ...
... for all conotruncal cases: OR = 3.2, 95% CI 1.1-13.2). These results are consistent with previous studies of associations of ... Conotruncal malformations of the heart are a major category of birth defects. No previous epidemiological studies on these ... maternal diabetes and pesticide exposure with conotruncal malformations. Further research is warranted to explore such ... Conotruncal heart malformations in Egypt: An epidemiological study. Author(s) Doaa A. Saleh*, Sameera Ezzat, Hala Hamza, ...
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion Yue ... Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion Yue ... A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart ... A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart ...
Fingerprint Dive into the research topics of Copy number variations in individuals with conotruncal heart defects reveal some ... Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We hypothesized ... abstract = "Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We ... N2 - Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We ...
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.. Delea M1, Espeche LD2, Bruque CD3,4, ... Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow ... CCHD: Conotruncal congenital heart defects. Inside the charts, numbers of patients in each category. * p , 0.05. ... CCHD: Conotruncal congenital heart defect; TOF: Tetralogy of Fallot; PTA: Persistent Truncus Arteriosus; TGV: Transposition of ...
T-Cell and Parathyroid Dysfunction in Conotruncal Cardiac Defects: Relationship to 22q11 deletion. • 121 *Anil Kumar ... Rights & permissionsfor article T-Cell and Parathyroid Dysfunction in Conotruncal Cardiac Defects: Relationship to 22q11 ...
Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects. Zhang E, et ... Title: Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects. ...
Surgery of Conotruncal Anomalies. Bove, Edward L.. 231,85€. Youre Wrong, Im Right. Capan, Levon M. ...
For the other severe defects, the recurrence risk ratio was 11.7 for conotruncal defects, 24.3 for AVSD, 12.9 for left ... of CHDs % Relative Risk§ 95% CI Heterotaxia 359 5 1.4 79.1 32.9-190 Conotruncal defect 2062 27 1.3 11.7 8.01-17.0 AVSD 743 8 ... Next, all persons with conotruncal defect codes but without AVSD were identified; by definition, because of the hierarchical ... Next, individuals with AVSD but without heterotaxia or conotruncal defects were identified, and so on. Study Population All ...
... and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal ...
We categorised cardiovascular birth defects into any cardiac defects; situs anomalies and looping defects; conotruncal and ... Use of paroxetine was associated with an increased prevalence of conotruncal and major arch anomalies (2.27, 1.01 to 5.07), ...
The 22q11 Deletion Syndrome Clinic (DiGeorge Syndrome, Velo-cardio-facial Syndrome or VCFS, Conotruncal Anomaly Face Syndrome, ...
  • It may also occur at the level of the infundibulum if the conotruncal septum is not aligned with the bulboventricular septum, resulting in a more prominent supraventricular crest or a subpulmonic ridge. (avnrt.com)
  • Several agricultural factors were associated with increased risk: raising animals (for TGA: OR = 2.4, 95% CI 1.2-4.6), raising poultry (for NGA: OR = 1.8, 95% CI 1.1-3.2), and using chemical rodenticides (for all conotruncal cases: OR = 3.2, 95% CI 1.1-13.2). (scirp.org)