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Discordant atrioventricular connection

MedGen UID:
488859
Concept ID:
C0344615
Congenital Abnormality
Synonym: Discordant atrioventricular connexion
SNOMED CT: Discordant atrioventricular connection (253277003)
 
HPO: HP:0011553

Definition

Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiscordant atrioventricular connection

Conditions with this feature

Heterotaxy, visceral, 12, autosomal
MedGen UID:
1803695
Concept ID:
C5676898
Congenital Abnormality
Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

Professional guidelines

PubMed

Laux D, Houyel L, Bajolle F, Raimondi F, Boudjemline Y, Bonnet D
Cardiol Young 2016 Jan;26(1):127-38. Epub 2015 Sep 14 doi: 10.1017/S1047951115000736. PMID: 26365181

Recent clinical studies

Etiology

Breinholt JP, John S
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):133-137. doi: 10.14797/mdcj-15-2-133. PMID: 31384376Free PMC Article
Laux D, Houyel L, Bajolle F, Raimondi F, Boudjemline Y, Bonnet D
Cardiol Young 2016 Jan;26(1):127-38. Epub 2015 Sep 14 doi: 10.1017/S1047951115000736. PMID: 26365181
de Rubensfigueroa J, Erdmenger Orellana J, Muñoz Castellanos L, Vázquez Antona C, Buendía Hernández A, Vargas Barrón J
Rev Esp Cardiol 2009 Sep;62(9):1055-9. doi: 10.1016/s1885-5857(09)73273-6. PMID: 19712628
Delius RE, Stark J
Eur J Cardiothorac Surg 1996;10(7):551-5. doi: 10.1016/s1010-7940(96)80423-4. PMID: 8855428
McGrath LB, Kirklin JW, Blackstone EH, Pacifico AD, Kirklin JK, Bargeron LM Jr
J Thorac Cardiovasc Surg 1985 Nov;90(5):711-28. PMID: 4058044

Diagnosis

Laux D, Houyel L, Bajolle F, Raimondi F, Boudjemline Y, Bonnet D
Cardiol Young 2016 Jan;26(1):127-38. Epub 2015 Sep 14 doi: 10.1017/S1047951115000736. PMID: 26365181
Tanaka K, Kurosawa H, Morita K, Nomura K
Jpn J Thorac Cardiovasc Surg 2004 Jun;52(6):300-4. doi: 10.1007/s11748-004-0047-6. PMID: 15242084
Earing MG, Edwards WD, Puga FJ, Cabalka AK
Pediatr Cardiol 2003 Sep-Oct;24(5):490-2. doi: 10.1007/s00246-002-0389-8. PMID: 14627321

Therapy

Breinholt JP, John S
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):133-137. doi: 10.14797/mdcj-15-2-133. PMID: 31384376Free PMC Article

Prognosis

Laux D, Houyel L, Bajolle F, Raimondi F, Boudjemline Y, Bonnet D
Cardiol Young 2016 Jan;26(1):127-38. Epub 2015 Sep 14 doi: 10.1017/S1047951115000736. PMID: 26365181
Delius RE, Stark J
Eur J Cardiothorac Surg 1996;10(7):551-5. doi: 10.1016/s1010-7940(96)80423-4. PMID: 8855428

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