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Overriding aorta

MedGen UID:
120559
Concept ID:
C0265886
Congenital Abnormality
Synonyms: Dextroposition of aorta; Overriding Aorta; Overriding aortic valve
SNOMED CT: Overriding aorta (63934006)
 
HPO: HP:0002623

Definition

An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. [from HPO]

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
CHARGE syndrome
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Linear skin defects with multiple congenital anomalies 1
MedGen UID:
163210
Concept ID:
C0796070
Disease or Syndrome
Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.
Catel-Manzke syndrome
MedGen UID:
375536
Concept ID:
C1844887
Disease or Syndrome
Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008).
Lymphedema-atrial septal defects-facial changes syndrome
MedGen UID:
383042
Concept ID:
C2677167
Disease or Syndrome
This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
MedGen UID:
934728
Concept ID:
C4310761
Disease or Syndrome
Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by Riley et al., 2020).
NEK9-related lethal skeletal dysplasia
MedGen UID:
1799564
Concept ID:
C5568141
Disease or Syndrome
A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Ciltea R, Nicula AI, Bajdechi M, Scafa-Udriste A, Rimbas R, Iana G, Vinereanu D
Medicina (Kaunas) 2022 Jul 28;58(8) doi: 10.3390/medicina58081011. PMID: 36013478Free PMC Article
Bohîlţea RE, Cîrstoiu MM, Nedelea FM, Turcan N, Georgescu TA, Munteanu O, Baroş A, Istrate-Ofiţeru AM, Berceanu C
Rom J Morphol Embryol 2020 Jul-Sep;61(3):905-910. doi: 10.47162/RJME.61.3.29. PMID: 33817732Free PMC Article
Kahkouee S, Sadr M, Pedarzadeh E, Fardin S, Borhani A, Gholami S, Amjad G
Folia Morphol (Warsz) 2017;76(1):51-57. Epub 2016 Nov 10 doi: 10.5603/FM.a2016.0031. PMID: 27830886
Liu J, Li H, Liu Z, Wu Q, Xu Y
PLoS One 2016;11(1):e0146380. Epub 2016 Jan 7 doi: 10.1371/journal.pone.0146380. PMID: 26741649Free PMC Article
Swamy P, Bharadwaj A, Varadarajan P, Pai RG
Echocardiography 2015 Jan;32 Suppl 2:S148-56. Epub 2014 May 29 doi: 10.1111/echo.12437. PMID: 24888422

Diagnosis

Zucker EJ
Pediatr Radiol 2022 Dec;52(13):2485-2497. Epub 2021 Aug 24 doi: 10.1007/s00247-021-05179-5. PMID: 34427695
Wise-Faberowski L, Asija R, McElhinney DB
Paediatr Anaesth 2019 May;29(5):475-482. Epub 2019 Apr 15 doi: 10.1111/pan.13569. PMID: 30592107
Monaco M, Williams I
Minerva Pediatr 2012 Oct;64(5):461-70. PMID: 22992529
Waldman JD, Wernly JA
Pediatr Clin North Am 1999 Apr;46(2):385-404. doi: 10.1016/s0031-3955(05)70125-5. PMID: 10218082
OLNEY MB
Calif Med 1949 Jun;70(6):453-8. PMID: 18131680Free PMC Article

Therapy

Boyer R, Kim HJ, Krishnan R
J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620926908. doi: 10.1177/2324709620926908. PMID: 32462941Free PMC Article
Kahkouee S, Sadr M, Pedarzadeh E, Fardin S, Borhani A, Gholami S, Amjad G
Folia Morphol (Warsz) 2017;76(1):51-57. Epub 2016 Nov 10 doi: 10.5603/FM.a2016.0031. PMID: 27830886
Antonetti I, Lorch D, Coe B, Maxey TS, Nallamshetty L, Dadlani GH, Berlowitz MS, Cohen AJ, Guglin ME
Congenit Heart Dis 2013 Jan-Feb;8(1):E24-30. Epub 2011 Dec 18 doi: 10.1111/j.1747-0803.2011.00598.x. PMID: 22176554

Prognosis

Zucker EJ
Pediatr Radiol 2022 Dec;52(13):2485-2497. Epub 2021 Aug 24 doi: 10.1007/s00247-021-05179-5. PMID: 34427695
Kapur S, Aeron G, Vojta CN
J Cardiovasc Comput Tomogr 2015 Nov-Dec;9(6):593-6. Epub 2015 Aug 6 doi: 10.1016/j.jcct.2015.01.018. PMID: 26283594
Swamy P, Bharadwaj A, Varadarajan P, Pai RG
Echocardiography 2015 Jan;32 Suppl 2:S148-56. Epub 2014 May 29 doi: 10.1111/echo.12437. PMID: 24888422
Monaco M, Williams I
Minerva Pediatr 2012 Oct;64(5):461-70. PMID: 22992529
Waldman JD, Wernly JA
Pediatr Clin North Am 1999 Apr;46(2):385-404. doi: 10.1016/s0031-3955(05)70125-5. PMID: 10218082

Clinical prediction guides

Kapur S, Aeron G, Vojta CN
J Cardiovasc Comput Tomogr 2015 Nov-Dec;9(6):593-6. Epub 2015 Aug 6 doi: 10.1016/j.jcct.2015.01.018. PMID: 26283594
Monaco M, Williams I
Minerva Pediatr 2012 Oct;64(5):461-70. PMID: 22992529
Stankunas K, Shang C, Twu KY, Kao SC, Jenkins NA, Copeland NG, Sanyal M, Selleri L, Cleary ML, Chang CP
Circ Res 2008 Sep 26;103(7):702-9. Epub 2008 Aug 21 doi: 10.1161/CIRCRESAHA.108.175489. PMID: 18723445Free PMC Article
Passarge E, Bartsch-Sandhoff M, Rehder H
Teratology 1982 Apr;25(2):221-5. doi: 10.1002/tera.1420250211. PMID: 7101200
Ysuda M, Poland BJ
Anat Anz 1975;137(5):429-33. PMID: 1180381

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