U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aortic arch interruption

MedGen UID:
57773
Concept ID:
C0152419
Congenital Abnormality
Synonym: Interrupted aortic arch
SNOMED CT: IAA - Interrupted aortic arch (218728005); Interrupted aortic arch (218728005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0011611
Monarch Initiative: MONDO:0009010
OMIM®: 217095; 600584
Orphanet: ORPHA2299

Definition

Non-continuity of the arch of aorta with an atretic point or absent segment. [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.
Velocardiofacial syndrome
MedGen UID:
65085
Concept ID:
C0220704
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.
Kabuki syndrome
MedGen UID:
162897
Concept ID:
C0796004
Congenital Abnormality
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.
Perlman syndrome
MedGen UID:
162909
Concept ID:
C0796113
Disease or Syndrome
Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).
Aortic arch interruption, facial palsy, and retinal coloboma
MedGen UID:
350733
Concept ID:
C1862681
Disease or Syndrome
X-linked intellectual disability-craniofacioskeletal syndrome
MedGen UID:
394716
Concept ID:
C2678036
Disease or Syndrome
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Alveolar capillary dysplasia with pulmonary venous misalignment
MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).
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).
Heterotaxy, visceral, 7, autosomal
MedGen UID:
902629
Concept ID:
C4225217
Disease or Syndrome
Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Heart and brain malformation syndrome
MedGen UID:
934760
Concept ID:
C4310793
Disease or Syndrome
Heart and brain malformation syndrome (HBMS) is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016). Homozygous mutation in the SMG9 gene can also cause neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPDO; 619995), a less severe neurodevelopmental disorder.
Structural heart defects and renal anomalies syndrome
MedGen UID:
1387412
Concept ID:
C4479549
Disease or Syndrome
Feingold syndrome type 1
MedGen UID:
1637716
Concept ID:
C4551774
Disease or Syndrome
Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Cardiac-urogenital syndrome
MedGen UID:
1648333
Concept ID:
C4748946
Disease or Syndrome
Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018).

Professional guidelines

PubMed

Sivanandam S, Glickstein JS, Printz BF, Allan LD, Altmann K, Solowiejczyk DE, Simpson L, Perez-Delboy A, Kleinman CS
Am J Perinatol 2006 May;23(4):241-5. Epub 2006 Apr 19 doi: 10.1055/s-2006-939535. PMID: 16625498
Heymann MA, Clyman RI
Pharmacotherapy 1982 May-Jun;2(3):148-55. doi: 10.1002/j.1875-9114.1982.tb04522.x. PMID: 6763200
Zahka KG, Roland JM, Cutilletta AF, Gardner TJ, Donahoo JS, Kidd L
Am J Cardiol 1980 Dec 1;46(6):1001-5. doi: 10.1016/0002-9149(80)90358-6. PMID: 7446413

Recent clinical studies

Etiology

Guan H, Wang X, Zhou Q, Tian L, Yang Z, Yang S
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2024 Apr 28;49(4):595-602. doi: 10.11817/j.issn.1672-7347.2024.230527. PMID: 39019788Free PMC Article
Liu JY, Jones B, Cheung MM, Galati JC, Koleff J, Konstantinov IE, Grigg LE, Brizard CP, d'Udekem Y
Heart Lung Circ 2014 Mar;23(3):256-64. Epub 2013 Aug 30 doi: 10.1016/j.hlc.2013.08.006. PMID: 24060690
Miyamoto T, Sinzobahamvya N, Kumpikaite D, Asfour B, Photiadis J, Brecher AM, Urban AE
Ann Thorac Surg 2005 Jun;79(6):2077-82. doi: 10.1016/j.athoracsur.2004.11.028. PMID: 15919313
Heymann MA, Clyman RI
Pharmacotherapy 1982 May-Jun;2(3):148-55. doi: 10.1002/j.1875-9114.1982.tb04522.x. PMID: 6763200
Gelfand ET, Callaghan JC, Sterns LP
J Thorac Cardiovasc Surg 1980 Mar;79(3):381-7. PMID: 6444449

Diagnosis

Guan H, Wang X, Zhou Q, Tian L, Yang Z, Yang S
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2024 Apr 28;49(4):595-602. doi: 10.11817/j.issn.1672-7347.2024.230527. PMID: 39019788Free PMC Article
Estephan LMH, Aranda AS, Marchi CH, Croti UA
Braz J Cardiovasc Surg 2022 Mar 10;37(1):131-134. doi: 10.21470/1678-9741-2021-0008. PMID: 35072407Free PMC Article
Vaidyanathan B, Vijayaraghavan A, Karmagaraj B, Kottayil B
Circ Cardiovasc Imaging 2018 May;11(5):e007721. doi: 10.1161/CIRCIMAGING.118.007721. PMID: 29703780
Maddali MM, Valliattu J, Kandachar PS, Thomas E, Nishant AR
J Card Surg 2016 May;31(5):357-60. Epub 2016 Mar 16 doi: 10.1111/jocs.12734. PMID: 26989996
Sivanandam S, Glickstein JS, Printz BF, Allan LD, Altmann K, Solowiejczyk DE, Simpson L, Perez-Delboy A, Kleinman CS
Am J Perinatol 2006 May;23(4):241-5. Epub 2006 Apr 19 doi: 10.1055/s-2006-939535. PMID: 16625498

Therapy

Guan H, Wang X, Zhou Q, Tian L, Yang Z, Yang S
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2024 Apr 28;49(4):595-602. doi: 10.11817/j.issn.1672-7347.2024.230527. PMID: 39019788Free PMC Article
Liu JY, Jones B, Cheung MM, Galati JC, Koleff J, Konstantinov IE, Grigg LE, Brizard CP, d'Udekem Y
Heart Lung Circ 2014 Mar;23(3):256-64. Epub 2013 Aug 30 doi: 10.1016/j.hlc.2013.08.006. PMID: 24060690
Kumar G, Provenzano S, Alphonso N, Karl TR
World J Pediatr Congenit Heart Surg 2013 Jul;4(3):293-5. doi: 10.1177/2150135113482471. PMID: 24327499
Bernabei M, Margaryan R, Arcieri L, Bianchi G, Pak V, Murzi B
Interact Cardiovasc Thorac Surg 2013 Mar;16(3):282-5. Epub 2012 Dec 7 doi: 10.1093/icvts/ivs510. PMID: 23223671Free PMC Article
Heymann MA, Clyman RI
Pharmacotherapy 1982 May-Jun;2(3):148-55. doi: 10.1002/j.1875-9114.1982.tb04522.x. PMID: 6763200

Prognosis

Chiappa E, Greco A, Fainardi V, Passantino S, Serranti D, Favilli S
Echocardiography 2015 Sep;32(9):1441-3. Epub 2015 Mar 25 doi: 10.1111/echo.12941. PMID: 25809619
Sivanandam S, Glickstein JS, Printz BF, Allan LD, Altmann K, Solowiejczyk DE, Simpson L, Perez-Delboy A, Kleinman CS
Am J Perinatol 2006 May;23(4):241-5. Epub 2006 Apr 19 doi: 10.1055/s-2006-939535. PMID: 16625498
Miyamoto T, Sinzobahamvya N, Kumpikaite D, Asfour B, Photiadis J, Brecher AM, Urban AE
Ann Thorac Surg 2005 Jun;79(6):2077-82. doi: 10.1016/j.athoracsur.2004.11.028. PMID: 15919313
Weldner PW, Myers JL, Gleason MM, Cyran SE, Weber HS, White MG, Baylen BG
J Thorac Cardiovasc Surg 1995 Apr;109(4):654-62. doi: 10.1016/S0022-5223(95)70346-2. PMID: 7715212
Gelfand ET, Callaghan JC, Sterns LP
J Thorac Cardiovasc Surg 1980 Mar;79(3):381-7. PMID: 6444449

Clinical prediction guides

Guan H, Wang X, Zhou Q, Tian L, Yang Z, Yang S
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2024 Apr 28;49(4):595-602. doi: 10.11817/j.issn.1672-7347.2024.230527. PMID: 39019788Free PMC Article
Zhang W, Xing W, Zhu M, Zhong X, He J
Medicine (Baltimore) 2021 Nov 19;100(46):e27879. doi: 10.1097/MD.0000000000027879. PMID: 34797332Free PMC Article
Bokenkamp R, Aguilar E, van der Palen RL, Sojak V, Bruggemans EF, Hruda J, Kuipers IM, Hazekamp MG
Eur J Cardiothorac Surg 2016 May;49(5):e91-6. doi: 10.1093/ejcts/ezw026. PMID: 27130951
Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, Vitelli F, Prescott K, Shaw-Smith C, Devriendt K, Bosman E, Steffes G, Steel KP, Simrick S, Basson MA, Illingworth E, Scambler PJ
J Clin Invest 2009 Nov;119(11):3301-10. Epub 2009 Oct 12 doi: 10.1172/JCI37561. PMID: 19855134Free PMC Article
Miyamoto T, Sinzobahamvya N, Kumpikaite D, Asfour B, Photiadis J, Brecher AM, Urban AE
Ann Thorac Surg 2005 Jun;79(6):2077-82. doi: 10.1016/j.athoracsur.2004.11.028. PMID: 15919313

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...