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01-03-2018 | Original Article

Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection

Authors: Ruixue Cao, Sijie Liu, Chunjie Liu, Sun Chen, Fen Li, Kun Sun, Rang Xu

Published in: Pediatric Cardiology | Issue 3/2018

Abstract

Anomalous pulmonary venous connection (APVC) is an uncommon congenital anomaly in which pulmonary venous blood flows directly into the right side of the heart or into the systemic veins. To identify whether there is any association between 22q11 CNVs and APVC, we analyzed the clinical data of 86 APVC patients and then studied the CNVs of 22q11 in 86 sporadic APVC patients by multiplex ligation-dependent probe amplification. The results showed that two patients carried the CNVs of 22q11, one patient had the deletion of 22q11 and the other had the duplication of 22q11. The incidence was significantly higher than that in the normal population (P < 0.01) that suggests a possible etiologic association between the duplication or deletion of 22q11 and the APVC in our patients.

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Carter RE, Capriles M, Noe Y (1969) Total anomalous pulmonary venous drainage: a clinical and anatomical study of 75 children. Br Heart J 31:45–51CrossRefPubMedPubMedCentral

Herlong JR, Jaggers JJ, Ungerleider RM (2000) Congenital Heart Surgery Nomenclature and Database Project: pulmonary venous anomalies. Ann Thorac Surg 69:S56–S69CrossRefPubMed

Stein P (2007) Total anomalous pulmonary venous connection. Aorn J 85:509–520CrossRefPubMed

Craig JM, Darling RC, Rothney WB (1957) Total pulmonary venous drainage into the right side of the heart; report of 17 autopsied cases not associated with other major cardiovascular anomalies. Lab Invest 6:44–64PubMed

Burroughs JT, Edwards JE (1960) Total anomalous pulmonary venous connection. Am Heart J 59:913–931CrossRefPubMed

Yoshimura N, Fukahara K, Yamashita A, Doki Y, Takeuchi K, Higuma T, Senda K, Toge M, Matsuo T, Nagura S (2014) Current topics in surgery for isolated total anomalous pulmonary venous connection. Surgery Today 44:2221–2226CrossRefPubMed

Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield UK, Sigorini M, Virdis R, Romano C (2000) Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 95:108CrossRefPubMed

Cinquetti R, Badi I, Campione M, Bortoletto E, Chiesa G, Parolini C, Camesasca C, Russo A, Taramelli R, Acquati F (2008) Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. Hum Mutat 29:468–474CrossRefPubMed

Bleyl SB, Saijoh Y, Bax NA, Gittenberger-de Groot AC, Wisse LJ, Chapman SC, Hunter J, Shiratori H, Hamada H, Yamada S, Shiota K, Klewer SE, Leppert MF, Schoenwolf GC (2010) Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. Hum Mol Genet 19:1286–1301CrossRefPubMedPubMedCentral

10.

Degenhardt K, Singh MK, Aghajanian H, Massera D, Wang Q, Li J, Li L, Choi C, Yzaguirre AD, Francey LJ, Gallant E, Krantz ID, Gruber PJ, Epstein JA (2013) Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections. Nat Med 19:760–765CrossRefPubMedPubMedCentral

11.

Deruiter MC, Poelmann RE, Mentink MMT, Vaniperen L, Gittenberger-De Groot AC (1993) Early formation of the vascular system in quail embryos. Anat Rec 235:261CrossRefPubMed

12.

Deruiter MC, Gittenberger-De Groot AC, Wenink AC, Poelmann RE, Mentink MM (1995) In normal development pulmonary veins are connected to the sinus venosus segment in the left atrium. Anat Rec 243:84CrossRefPubMed

13.

NA B, AC G-dG THJ, MC D, RE P, J O (2001) Normal development of the pulmonary veins in human embryos and formulation of a morphogenetic concept for sinus venosus defects. Am J Cardiol 87:305–309CrossRef

14.

Douglas YL, Jongbloed MR, Gittenberger-de Groot AC, Evers D, Dion RA, Voigt P, Bartelings MM, Schalij MJ, Ebels T, Deruiter MC (2006) Histology of vascular myocardial wall of left atrial body after pulmonary venous incorporation. Am J Cardiol 97:662–670CrossRefPubMed

15.

Mahtab EA, Vicentesteijn R, Hahurij ND, Jongbloed MR, Wisse LJ, Deruiter MC, Uhrin P, Zaujec J, Binder BR, Schalij MJ (2009) Podoplanin deficient mice show a RhoA-related hypoplasia of the sinus venosus myocardium including the sinoatrial node. Dev Dyn 238:183CrossRefPubMed

16.

Douglas YL, Mahtab EA, Jongbloed MR, Uhrin P, Zaujec J, Binder BR, Schalij MJ, Poelmann RE, Deruiter MC, Gittenberger-de Groot AC (2009) Pulmonary vein, dorsal atrial wall and atrial septum abnormalities in podoplanin knockout mice with disturbed posterior heart field contribution. Pediatr Res 65:27–32CrossRefPubMed

17.

Waldo K, Miyagawatomita S, Kumiski D, Kirby ML (1998) Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract: aortic sac to ventricular septal closure. Dev Biol 196:129CrossRefPubMed

18.

Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K (2003) Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet A 116A:129CrossRefPubMed

19.

Keyte AL, Alonzojohnsen M, Hutson MR (2015) Evolutionary and developmental origins of the cardiac neural crest: building a divided outflow tract. Birth Defects Res C 102:309–323CrossRef

20.

Rana MS, Théveniau-Ruissy M, De BC, Mesbah K, Francou A, Rammah M, Domínguez JN, Roux M, Laforest B, Anderson RH (2014) Tbx1 coordinates addition of posterior second heart field progenitor cells to the arterial and venous poles of the heart. Circ Res 115:790CrossRefPubMed

21.

Robin NH, Shprintzen RJ (2005) Defining the clinical spectrum of deletion 22q11.2. J Pediatr 147:90CrossRefPubMed

22.

Anderson RH, Cook AC (2007) The structure and components of the atrial chambers. Europace 9(Suppl 6):vi3–vi9PubMed

23.

Douglas YL, Jongbloed MRM, Hartog WCED., Bartelings MM, Bogers AJJC., Ebels T, Deruiter MC, Groot GD (2009) Pulmonary vein and atrial wall pathology in human total anomalous pulmonary venous connection. Int J Cardiol 134:302–312CrossRefPubMed

24.

Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC (2008) Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet 51:501–510CrossRefPubMed

25.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di BD, Fichera M (2007) 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet 71:177–182CrossRefPubMed

26.

Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE (1999) A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8:1157CrossRefPubMed

27.

Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74CrossRefPubMed

28.

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, Mcdonald MT (2003) Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73:1027CrossRefPubMedPubMedCentral

29.

Rochebrochard CDL, Joly-Hélas G, Goldenberg A, Durand I, Laquerrière A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A (2010) The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A 140A:1608–1613CrossRef

30.

Engels H, Brockschmidt A, Hoischen A, Landwehr C, Bosse K, Walldorf C, Toedt G, Radlwimmer B, Propping P, Lichter P (2007) DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. Neurology 68:743–750CrossRefPubMed

31.

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J (2008) Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10:267CrossRefPubMed

32.

Liu L, Wang HD, Cui CY, Wu D, Li T, Fan TB, Peng BT, Zhang LZ, Wang CZ (2016) Application of array-comparative genomic hybridization in tetralogy of Fallot. Medicine 95:e5552CrossRefPubMedPubMedCentral

33.

Cai CL, Liang X, Shi Y, Chu PH, Pfaff SL, Chen J, Evans S (2003) Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev Cell 5:877CrossRefPubMedPubMedCentral

34.

Lee MY, Won HS, Baek JW, Cho JH, Shim JY, Lee PR, Kim A (2014) Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome. Obstet Gynecol Sci 57:11–16CrossRefPubMedPubMedCentral

35.

Aguayogómez A, Arteagavázquez J, Svyryd Y, Calderóncolmenero J, Zamoragonzález C, Vargasalarcón G, Mutchinick OM (2015) Identification of copy number variations in isolated tetralogy of fallot. Pediatr Cardiol 36:1642–1646CrossRef

36.

Abid F, Chaker L, Hakim K, Larbi C, Ouarda F, Msaad H, Mechmeche R (2004) Anatomic repair of transposition of the great arteries or arterial switch operation: report of 62 cases. Tunis Med 82(Suppl 1):94–100PubMed

37.

Elami A, Rein AJ, Preminger TJ, Milgalter E (1995) Tetralogy of Fallot, absent pulmonary valve, partial anomalous pulmonary venous return and coarctation of the aorta. Int J Cardiol 52:203CrossRefPubMed

38.

Anderson RH, Brown NA, Moorman AF (2006) Development and structures of the venous pole of the heart. Dev Dyn 235:2–9CrossRefPubMed

39.

Iii MTP, Waldo K, Kirby ML (1989) Neural crest ablation does not alter pulmonary vein development in the chick embryo. Anat Rec 223:292CrossRef

40.

Xu H, Morishima M, Wylie JN, Schwartz RJ, Bruneau BG, Lindsay EA, Baldini A (2004) Tbx1 has a dual role in the morphogenesis of the cardiac outflowtract. Development 131:3217–3227CrossRefPubMed

41.

Bajolle F, Zaffran S, Losay J, Ou P, Buckingham M, Bonnet D (2009) Conotruncal defects associated with anomalous pulmonary venous connections. Arch Cardiovasc Dis 102:105–110CrossRefPubMed

Title: Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection
Authors: Ruixue Cao
Sijie Liu
Chunjie Liu
Sun Chen
Fen Li
Kun Sun
Rang Xu
Publication date: 01-03-2018
Publisher: Springer US
Published in: Pediatric Cardiology / Issue 3/2018
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-017-1794-3

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Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection

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