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)
28
(4.0%)
691270
Association of atrioventricular valve atresia with single ventricle, truncus arteriosus communis and transposition. A basic reorientation in the approach to the definition of congenital heart defects.
Shakibi JG, Aryanpur I, Nazarian I, Siassi B.
Jpn Heart J. 1978;19(3):346-57.
Plethora
Child Congenital Heart Defects Heart Ventricle Homo sapiens Male Mitral Valve Terminology as Topic Transposition of Great Vessels Truncus Arteriosus Truncus Arteriosus, Persistent
28
(4.0%)
410647
Spontaneous rupture of a congenital diverticulum of the right ventricle in a 1-month-old child.
Rajs J, Thoren C, Kjellman NI.
Eur J Cardiol. 1977;6(2):131-7.
Hemopericardium
Congenital Heart Defects Diverticulum Heart Ventricle Homo sapiens Infant Male Myocardium Rupture, Spontaneous
28
(4.0%)
333995
Anomalous origin of a single coronary artery from the innominate artery.
Davis JS, Lie JT.
Angiology. 1977;28(11):775-8.
Single ventricle
Coronary Vessel Anomalies Females Homo sapiens Infant, Newborn
28
(4.0%)
322419
[Aplasia of the pancreas with diabetes mellitus, aplasia of the intrahepatic bile ducts, and additional malformations in a small for date baby (author's transl)].
Wockel W, Scheibner K.
Zentralbl Allg Pathol. 1977;121(1-2):186-94.
Diabetes mellitus
Complications of Diabetes Mellitus Diabetes Mellitus Females Homo sapiens Infant, Newborn Infant, Small for Gestational Age Islets of Langerhans Pancreas
28
(4.0%)
162540
Aorticopulmonary window associated with tetralogy of Fallot. Report of one case and review of the literature.
Perez-Martinez V, Burgueros M, Quero M, Perez Leon J, Hafer G.
Angiology. 1976;27(9):526-34.
Ventricular septal defect
Aortopulmonary Septal Defect Cardiomegaly Congenital Heart Defects Electrocardiography Homo sapiens Infant Male Tetralogy of Fallot
28
(4.0%)
138773
Surgical correction of types II and III truncus arteriosus.
Griepp RB, Stinson EB, Shumway NE.
J Thorac Cardiovasc Surg. 1977;73(3):345-52.
Hypertension
Animals Child Child, Preschool Collateral Circulation Differential Diagnosis Females Homo sapiens Male Methods Polyethylene Terephthalates Postoperative Complications Pulmonary Hypertension Suture Techniques Truncus Arteriosus, Persistent Ventricular Septal Defects
28
(4.0%)
126929
[Deformities of the spine and ribs in embryologically related malformations of the heart with cyanosis].
Beitzke A, Muller WD, Becker H.
Rofo. 1975;123(3):242-6.
Cyanosis
Congenital Heart Defects Females Gestational Age Heart Septal Defects Homo sapiens Infant Infant, Newborn Male Pneumonia Pregnancy Pregnancy Trimester, First Syndrome Tetralogy of Fallot
        

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