Truncus arteriosus

Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (<I>i.e.</I> truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.



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Total: 257 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
21
(23.3%)
29068803
Anaphylaxis to Surgiflo During Posterior Spinal Fusion in an Adolescent Status Post Truncus Arteriosus Repair: A Case Report.
Manrique Espinel AM, Feldman JM, Nelson S, Smaliak T, Flynn JM, Nicolson SC.
A A Pract. 2018;10(6):129-132.
Hypotension Scoliosis
AICDA
21
(23.3%)
26989996
Induced Pectus Carinatum.
Maddali MM, Valliattu J, Kandachar PS, Thomas E, Nishant AR.
J Card Surg. 2016;31(5):357-60.
Pectus carinatum
Congenital Heart Defects Echocardiography Homo sapiens Infant, Newborn Male Thoracoplasty
21
(23.3%)
6472972
Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.
Kousseff BG.
Pediatrics. 1984;74(3):395-8.
Sacral meningocele
AFP
Congenital Heart Defects Females Homo sapiens Infant, Newborn Male Neural Tube Defects
24
(21.2%)
19065323
Common arterial trunk with thanatophoric dysplasia: a unique case.
McBrien A, Sands A, Paterson A, Tharmaratnam S, Thornton C.
Fetal Pediatr Pathol. 2008;27(6):259-63.
Skeletal dysplasia
Diagnosis Females Homo sapiens Pregnancy Thanatophoric Dysplasia Truncus Arteriosus, Persistent
25
(17.5%)
27098067
(4839129)
Neonatal diabetes and protein losing enteropathy: a case report.
McMillan T, Girgis R, Sellers EA.
BMC Med Genet. 2016;17:32.
Inguinal hernia
ABCC8 GATA6 KCNJ11
Atrial Septal Defects Chromosomes, Human, Pair 18 Diabetes Mellitus GATA6 Transcription Factor Homo sapiens Infant Male Pancreas Protein-Losing Enteropathies Truncus Arteriosus Ventricular Septal Defects
25
(17.5%)
26803197
Cardiac-gated computed tomography angiography in three alpacas with complex congenital heart disease.
Stieger-Vanegas SM, Scollan KF, Meadows L, Sisson D, Schlipf J, Riebold T, Lohr CV.
J Vet Cardiol. 2016;18(1):88-98.
Lethargy Exercise intolerance
Animals Camelids, New World Congenital Heart Defects Electrocardiography Females Male
25
(17.5%)
10602117
Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.
Han XY, Wu SS, Conway DH, Pawel BR, Punnett HH, Martin RA, de Chadarevian JP.
Am J Med Genet. 2000;90(1):45-8.
Ventricular septal defect Hernia
Females Focal Dermal Hypoplasia Homo sapiens Infant, Newborn
28
(4.0%)
30745775
Bronchial compression as adverse effect of right pulmonary artery stenting in a patient with truncus arteriosus communis and interrupted aortic arch.
Takeuchi K, Srivastava A, Steed DR.
Ann Pediatr Cardiol. 2019;12(1):66-68.
Bronchomalacia
28
(4.0%)
30546588
A case report of aorto-pulmonary window in an infant born to a diabetic mother.
Schena F, Cappelleri A, Picciolli I, Mayer A, Francescato G, Galli MA, Arcidiacono C, Mosca F.
J Cardiol Cases. 2015;12(6):173-175.
Failure to thrive
28
(4.0%)
30534217
Truncus arteriosus 5th decade transesophageal and transthoracic echocardiogram features.
Williams-Phillips S.
J Cardiol Cases. 2014;10(1):25-30.
Hypertension
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 101

HPO ID Term # of case reports
HP:0011611 Interrupted aortic arch 30
HP:0001629 Ventricular septal defect 28
HP:0011604 Aortopulmonary window 8
HP:0001643 Patent ductus arteriosus 7
HP:0000822 Hypertension 6
HP:0001635 Congestive heart failure 6
HP:0001750 Single ventricle 6
HP:0002901 Hypocalcemia 6
HP:0004415 Pulmonary artery stenosis 6
HP:0011590 Double aortic arch 6
HP:0100584 Endocarditis 5
HP:0002098 Respiratory distress 4
HP:0002617 Dilatation 4
HP:0011613 Interrupted aortic arch type B 4
HP:0000316 Hypertelorism 3
HP:0000961 Cyanosis 3
HP:0001710 Conotruncal defect 3
HP:0000126 Hydronephrosis 2
HP:0000252 Microcephaly 2
HP:0000819 Diabetes mellitus 2
HP:0000860 Parathyroid hypoplasia 2
HP:0001510 Growth delay 2
HP:0001655 Patent foramen ovale 2
HP:0001667 Right ventricular hypertrophy 2
HP:0001746 Asplenia 2
HP:0002721 Immunodeficiency 2
HP:0005160 Total anomalous pulmonary venous return 2
HP:0005301 Persistent left superior vena cava 2
HP:0011467 Absent gallbladder 2
HP:0031625 Pseudoaneurysm 2
HP:0031834 Aortopulmonary collateral arteries 2
HP:0100790 Hernia 2
HP:0000023 Inguinal hernia 1
HP:0000028 Cryptorchidism 1
HP:0000054 Micropenis 1
HP:0000086 Ectopic kidney 1
HP:0000238 Hydrocephalus 1
HP:0000278 Retrognathia 1
HP:0000369 Low-set ears 1
HP:0000470 Short neck 1
HP:0000518 Cataract 1
HP:0000568 Microphthalmia 1
HP:0001156 Brachydactyly 1
HP:0001195 Single umbilical artery 1
HP:0001249 Intellectual disability 1
HP:0001321 Cerebellar hypoplasia 1
HP:0001511 Intrauterine growth retardation 1
HP:0001518 Small for gestational age 1
HP:0001634 Mitral valve prolapse 1
HP:0001647 Bicuspid aortic valve 1
HP:0001650 Aortic valve stenosis 1
HP:0001659 Aortic regurgitation 1
HP:0001680 Coarctation of aorta 1
HP:0001694 Right-to-left shunt 1
HP:0001708 Right ventricular failure 1
HP:0001718 Mitral stenosis 1
HP:0001748 Polysplenia 1
HP:0001878 Hemolytic anemia 1
HP:0001945 Fever 1
HP:0002045 Hypothermia 1
HP:0002239 Gastrointestinal hemorrhage 1
HP:0002566 Intestinal malrotation 1
HP:0002615 Hypotension 1
HP:0002623 Overriding aorta 1
HP:0002637 Cerebral ischemia 1
HP:0002777 Tracheal stenosis 1
HP:0002791 Hypoventilation 1
HP:0004322 Short stature 1
HP:0004383 Hypoplastic left heart 1
HP:0004961 Pulmonary artery sling 1
HP:0005162 Left ventricular dysfunction 1
HP:0005765 Sacral meningocele 1
HP:0006210 Postaxial oligodactyly 1
HP:0008905 Rhizomelia 1
HP:0009776 Adactyly 1
HP:0009800 Maternal diabetes 1
HP:0010446 Tricuspid stenosis 1
HP:0010772 Anomalous pulmonary venous return 1
HP:0010866 Abdominal wall defect 1
HP:0010880 Increased nuchal translucency 1
HP:0010954 Hypoplastic right heart 1
HP:0011537 Left atrial isomerism 1
HP:0011573 Hypoplastic tricuspid valve 1
HP:0011612 Interrupted aortic arch type A 1
HP:0011623 Muscular ventricular septal defect 1
HP:0012165 Oligodactyly 1
HP:0012304 Hypoplastic aortic arch 1
HP:0012721 Venous malformation 1
HP:0025615 Abscess 1
HP:0030048 Colpocephaly 1
HP:0030853 Heterotaxy 1
HP:0030882 Coronary artery aneurysm 1
HP:0031649 Aortic rupture 1
HP:0031655 Quadricuspid aortic valve 1
HP:0031853 Isomerism 1
HP:0031864 Bacteremia 1
HP:0100336 Bilateral cleft lip 1
HP:0100735 Hypertensive crisis 1
HP:0100749 Chest pain 1
HP:0100841 Microgastria 1
HP:0410030 Cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
NKX2-6 NK2 homeobox 6 137814
PLXND1 plexin D1 23129