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Atrioventricular septal defect, susceptibility to, 2(AVSD2)

MedGen UID:
381193
Concept ID:
C1853508
Finding
Synonym: Atrioventricular septal defect 2
 
Gene (location): CRELD1 (3p25.3)
 
Monarch Initiative: MONDO:0011650
OMIM®: 606217

Definition

Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene. [from MONDO]

Clinical features

From HPO
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Pulmonary artery atresia
MedGen UID:
82723
Concept ID:
C0265908
Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Right aortic arch with mirror image branching
MedGen UID:
871216
Concept ID:
C4025695
Anatomical Abnormality
The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.

Recent clinical studies

Etiology

Rambo-Martin BL, Mulle JG, Cutler DJ, Bean LJH, Rosser TC, Dooley KJ, Cua C, Capone G, Maslen CL, Reeves RH, Sherman SL, Zwick ME
G3 (Bethesda) 2018 Jan 4;8(1):105-111. doi: 10.1534/g3.117.300366. PMID: 29141989Free PMC Article
Davey BT, Rychik J
Pediatr Cardiol 2016 Jan;37(1):50-4. Epub 2015 Aug 4 doi: 10.1007/s00246-015-1237-y. PMID: 26238793
Ramachandran D, Zeng Z, Locke AE, Mulle JG, Bean LJ, Rosser TC, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Feingold E, Sherman SL, Zwick ME
G3 (Bethesda) 2015 Jul 20;5(10):1961-71. doi: 10.1534/g3.115.019943. PMID: 26194203Free PMC Article
Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME
Physiol Genomics 2012 May 1;44(9):518-41. Epub 2012 Feb 7 doi: 10.1152/physiolgenomics.00013.2012. PMID: 22318994Free PMC Article
Xu Z, Kerstann KF, Sherman SL, Chakravarti A, Feingold E
Genet Epidemiol 2004 Feb;26(2):125-31. doi: 10.1002/gepi.10302. PMID: 14748012

Diagnosis

Digilio MC, Dentici ML, Loddo S, Laino L, Calcagni G, Genovese S, Capolino R, Bottillo I, Calvieri G, Dallapiccola B, Marino B, Novelli A, Versacci P
Eur J Med Genet 2022 Jan;65(1):104381. Epub 2021 Nov 8 doi: 10.1016/j.ejmg.2021.104381. PMID: 34763108
Digilio MC, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici ML, Versacci P, Dallapiccola B, Tartaglia M, Marino B
Clin Genet 2019 Feb;95(2):268-276. Epub 2018 May 23 doi: 10.1111/cge.13375. PMID: 29722020
Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME
Physiol Genomics 2012 May 1;44(9):518-41. Epub 2012 Feb 7 doi: 10.1152/physiolgenomics.00013.2012. PMID: 22318994Free PMC Article

Prognosis

Chen J, Qi B, Zhao J, Liu W, Duan R, Zhang M
Gene 2016 Jan 10;575(2 Pt 2):473-477. Epub 2015 Sep 12 doi: 10.1016/j.gene.2015.09.021. PMID: 26376067
Davey BT, Rychik J
Pediatr Cardiol 2016 Jan;37(1):50-4. Epub 2015 Aug 4 doi: 10.1007/s00246-015-1237-y. PMID: 26238793
Borgman KY, Smith AH, Owen JP, Fish FA, Kannankeril PJ
Heart Rhythm 2011 Dec;8(12):1900-4. Epub 2011 Jul 6 doi: 10.1016/j.hrthm.2011.06.033. PMID: 21740877Free PMC Article

Clinical prediction guides

Digilio MC, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici ML, Versacci P, Dallapiccola B, Tartaglia M, Marino B
Clin Genet 2019 Feb;95(2):268-276. Epub 2018 May 23 doi: 10.1111/cge.13375. PMID: 29722020
Chen J, Qi B, Zhao J, Liu W, Duan R, Zhang M
Gene 2016 Jan 10;575(2 Pt 2):473-477. Epub 2015 Sep 12 doi: 10.1016/j.gene.2015.09.021. PMID: 26376067
Borgman KY, Smith AH, Owen JP, Fish FA, Kannankeril PJ
Heart Rhythm 2011 Dec;8(12):1900-4. Epub 2011 Jul 6 doi: 10.1016/j.hrthm.2011.06.033. PMID: 21740877Free PMC Article

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