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Truncus arteriosus

MedGen UID:
22501
Concept ID:
C0041206
Embryonic Structure
Synonym: Truncus arteriosus communis
SNOMED CT: Structure of truncus arteriosus of foetus (58140002); Truncus arteriosus of foetus (58140002); Structure of truncus arteriosus of fetus (58140002); Truncus arteriosus of fetus (58140002)
 
HPO: HP:0001660
OMIM®: 600584

Definition

A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. [from HPO]

Conditions with this feature

DiGeorge syndrome
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Femoral hypoplasia - unusual facies syndrome
MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).
Gillespie syndrome
MedGen UID:
96563
Concept ID:
C0431401
Disease or Syndrome
Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).
Microcephaly-cardiac defect-lung malsegmentation syndrome
MedGen UID:
371329
Concept ID:
C1832436
Disease or Syndrome
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
Matthew-Wood syndrome
MedGen UID:
318679
Concept ID:
C1832661
Disease or Syndrome
Syndromic microphthalmia-9 (MCOPS9), also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).
Emanuel syndrome
MedGen UID:
323030
Concept ID:
C1836929
Disease or Syndrome
Emanuel syndrome is characterized by pre- and postnatal growth deficiency, microcephaly, hypotonia, severe developmental delays, ear anomalies, preauricular tags or pits, cleft or high-arched palate, congenital heart defects, kidney abnormalities, and genital abnormalities in males.
Conotruncal heart malformations
MedGen UID:
341803
Concept ID:
C1857586
Disease or Syndrome
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Verloove Vanhorick-Brubakk syndrome
MedGen UID:
395171
Concept ID:
C1859082
Disease or Syndrome
A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
Chromosome 1q21.1 deletion syndrome
MedGen UID:
393913
Concept ID:
C2675897
Congenital Abnormality
The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances.
Chromosome 22q11.2 deletion syndrome, distal
MedGen UID:
395634
Concept ID:
C2678480
Disease or Syndrome
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>.
Renal-hepatic-pancreatic dysplasia 2
MedGen UID:
815764
Concept ID:
C3809434
Disease or Syndrome
RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016). For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (208540).
8q24.3 microdeletion syndrome
MedGen UID:
816353
Concept ID:
C3810023
Disease or Syndrome
Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MedGen UID:
860891
Concept ID:
C4012454
Congenital Abnormality
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
Adams-Oliver syndrome 6
MedGen UID:
908556
Concept ID:
C4225271
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Structural heart defects and renal anomalies syndrome
MedGen UID:
1387412
Concept ID:
C4479549
Disease or Syndrome
Stankiewicz-Isidor syndrome
MedGen UID:
1375936
Concept ID:
C4479599
Disease or Syndrome
Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).
Congenital heart defects, multiple types, 9
MedGen UID:
1841003
Concept ID:
C5830367
Congenital Abnormality
Multiple types of congenital heart defects-9 (CHTD9) is characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies (Ta-Shma et al., 2013; Guimier et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (see 306955).

Professional guidelines

PubMed

Barris DM, Mikhno M, Kornblit M, Wang K, Duong S, Cohen J, Paul E, Stern K, Ezon D, Geiger M
Ultrasound Obstet Gynecol 2023 Nov;62(5):695-700. Epub 2023 Oct 11 doi: 10.1002/uog.26240. PMID: 37128164
Dimopoulos K, Diller GP, Opotowsky AR, D'Alto M, Gu H, Giannakoulas G, Budts W, Broberg CS, Veldtman G, Swan L, Beghetti M, Gatzoulis MA
J Am Heart Assoc 2018 Jul 4;7(14) doi: 10.1161/JAHA.118.008587. PMID: 29973393Free PMC Article
Kruzliak P, Syamasundar RP, Novak M, Pechanova O, Kovacova G
Arch Cardiovasc Dis 2013 Aug-Sep;106(8-9):448-54. Epub 2013 Aug 9 doi: 10.1016/j.acvd.2013.05.004. PMID: 23938302

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hypoxemia, Critical Congenital Heart Disease, 2013

Recent systematic reviews

Mitta A, Vogel AD, Korte JE, Brennan E, Bradley SM, Kavarana MN, Konrad Rajab T, Kwon JH
Pediatr Cardiol 2023 Dec;44(8):1649-1657. Epub 2023 Jul 20 doi: 10.1007/s00246-023-03231-9. PMID: 37474609
Hardy WA, Kang L, Turek JW, Rajab TK
Cardiol Young 2023 May;33(5):673-680. Epub 2023 Mar 27 doi: 10.1017/S1047951123000604. PMID: 36970855
Chen L, Yang T, Chen L, Wang L, Wang T, Zhao L, Ye Z, Zhang S, Luo L, Zheng Z, Qin J
Arch Gynecol Obstet 2019 Dec;300(6):1491-1506. Epub 2019 Nov 12 doi: 10.1007/s00404-019-05376-6. PMID: 31713644

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      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2013
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hypoxemia, Critical Congenital Heart Disease, 2013

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