U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Partial atrioventricular canal

MedGen UID:
868879
Concept ID:
C4023290
Congenital Abnormality
Synonyms: Partial atrioventricular canal defect; Partial atrioventricular septal defects; Partial AVSD; Partial common atrioventricular canal
SNOMED CT: Partial defect of atrioventricular canal (718216009); Partial atrioventricular canal (718216009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0011577
Monarch Initiative: MONDO:0015275
Orphanet: ORPHA1330

Definition

A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. [from HPO]

Conditions with this feature

Bardet-Biedl syndrome 19
MedGen UID:
855173
Concept ID:
C3889475
Disease or Syndrome
Bardet-Biedl syndrome-19 (BBS19) is an autosomal recessive ciliopathy characterized by obesity, impaired intellectual development, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Heterotaxy, visceral, 11, autosomal, with male infertility
MedGen UID:
1794229
Concept ID:
C5562019
Disease or Syndrome
Visceral heterotaxy-11 (HTX11) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility associated with reduced flagellar motility has been reported (Dougherty et al., 2020). For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
MedGen UID:
1823998
Concept ID:
C5774225
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly (Ziegler et al., 2022).
Multiple mitochondrial dysfunctions syndrome 7
MedGen UID:
1841222
Concept ID:
C5830586
Disease or Syndrome
Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems (Arribas-Carreira et al., 2023). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).

Professional guidelines

PubMed

Gembruch U, Knöpfle G, Chatterjee M, Bald R, Redel DA, Födisch HJ, Hansmann M
Am Heart J 1991 May;121(5):1489-97. doi: 10.1016/0002-8703(91)90156-c. PMID: 2017980
Hardesty RL, Zuberbuhler JR, Bahnson HT
Arch Surg 1975 Nov;110(11):1391-6. doi: 10.1001/archsurg.1975.01360170131020. PMID: 1191034

Recent clinical studies

Etiology

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Song L, Ling Y, An Q
J Cardiothorac Surg 2019 Jun 11;14(1):106. doi: 10.1186/s13019-019-0931-x. PMID: 31186038Free PMC Article
Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
Devlin PJ, Backer CL, Eltayeb O, Mongé MC, Hauck AL, Costello JM
Ann Thorac Surg 2016 Jul;102(1):170-7. Epub 2016 Apr 25 doi: 10.1016/j.athoracsur.2016.01.085. PMID: 27112649
Manning PB
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2007:42-6. doi: 10.1053/j.pcsu.2007.02.002. PMID: 17433990

Diagnosis

Song L, Ling Y, An Q
J Cardiothorac Surg 2019 Jun 11;14(1):106. doi: 10.1186/s13019-019-0931-x. PMID: 31186038Free PMC Article
Devlin PJ, Backer CL, Eltayeb O, Mongé MC, Hauck AL, Costello JM
Ann Thorac Surg 2016 Jul;102(1):170-7. Epub 2016 Apr 25 doi: 10.1016/j.athoracsur.2016.01.085. PMID: 27112649
Garg P, Mishra A, Shah R, Panchal J, Parmar D
World J Pediatr Congenit Heart Surg 2015 Jan;6(1):86-9. doi: 10.1177/2150135114544755. PMID: 25548349
Masia SL, Sanna GD, Matta G, Balata A, Padua G
Eur Heart J Cardiovasc Imaging 2015 Mar;16(3):344. Epub 2014 Oct 29 doi: 10.1093/ehjci/jeu214. PMID: 25354865
Gembruch U, Knöpfle G, Chatterjee M, Bald R, Redel DA, Födisch HJ, Hansmann M
Am Heart J 1991 May;121(5):1489-97. doi: 10.1016/0002-8703(91)90156-c. PMID: 2017980

Therapy

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Song L, Ling Y, An Q
J Cardiothorac Surg 2019 Jun 11;14(1):106. doi: 10.1186/s13019-019-0931-x. PMID: 31186038Free PMC Article
Fernando RJ, Johnson SD, Carter T
Anesthesiology 2019 Oct;131(4):896-897. doi: 10.1097/ALN.0000000000002795. PMID: 31116104
Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
Aeba R, Kudo M, Okamoto K, Yozu R
Ann Thorac Surg 2012 May;93(5):e137-9. doi: 10.1016/j.athoracsur.2011.12.071. PMID: 22541239

Prognosis

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Song L, Ling Y, An Q
J Cardiothorac Surg 2019 Jun 11;14(1):106. doi: 10.1186/s13019-019-0931-x. PMID: 31186038Free PMC Article
Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
Devlin PJ, Backer CL, Eltayeb O, Mongé MC, Hauck AL, Costello JM
Ann Thorac Surg 2016 Jul;102(1):170-7. Epub 2016 Apr 25 doi: 10.1016/j.athoracsur.2016.01.085. PMID: 27112649
El-Rassi I, Charafedine F, Majdalani M, Arabi M, Khater D, Bitar F
Multimed Man Cardiothorac Surg 2015;2015 Epub 2015 Dec 17 doi: 10.1093/mmcts/mmv037. PMID: 26685152

Clinical prediction guides

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Tishler B, Gauvreau K, Colan SD, Del Nido P, Nathan M
Ann Thorac Surg 2018 May;105(5):1461-1468. Epub 2017 Dec 19 doi: 10.1016/j.athoracsur.2017.11.043. PMID: 29269131
Zhou T, Li J, Lai H, Zhu K, Sun Y, Wang Y, Ding W, Hong T, Wang C
Interact Cardiovasc Thorac Surg 2018 Mar 1;26(3):468-473. doi: 10.1093/icvts/ivx349. PMID: 29069357
Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B
Eur J Hum Genet 2013 Feb;21(2):200-4. Epub 2012 Jul 11 doi: 10.1038/ejhg.2012.145. PMID: 22781091Free PMC Article
Wójcik A, Klisiewicz A, Szymański P, Janas J, Różański J, Kuśmierczyk M, Hoffman P
Kardiol Pol 2012;70(5):464-70. PMID: 22623236

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...