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Sự Trùng Lặp và Mất Đi của 22q11 Liên Quan Đến Kết Nối Tĩnh Mạch Phổi Bất Thường
Tóm tắt
Kết nối tĩnh mạch phổi bất thường (APVC) là một dị tật bẩm sinh không phổ biến, trong đó máu tĩnh mạch phổi chảy trực tiếp vào bên phải của tim hoặc vào các tĩnh mạch hệ thống. Để xác định liệu có sự liên kết nào giữa các biến thể số lượng bản sao (CNVs) ở vùng 22q11 và APVC hay không, chúng tôi đã phân tích dữ liệu lâm sàng của 86 bệnh nhân APVC và sau đó nghiên cứu các CNVs ở 22q11 trong 86 bệnh nhân APVC th sporadic thông qua phương pháp khuếch đại dò tìm phụ thuộc vào sự nối đa năng. Kết quả cho thấy hai bệnh nhân mang CNVs ở 22q11, một bệnh nhân có sự mất đoạn 22q11 và bệnh nhân còn lại có sự trùng lặp 22q11. Tỷ lệ này cao hơn đáng kể so với dân số bình thường (P < 0.01), điều đó gợi ý một mối liên hệ nguyên nhân có thể giữa sự trùng lặp hoặc mất đoạn của 22q11 và APVC ở các bệnh nhân của chúng tôi.
Từ khóa
#Kết nối tĩnh mạch phổi bất thường #biến thể số lượng bản sao #22q11 #dị tật bẩm sinh.Tài liệu tham khảo
Carter RE, Capriles M, Noe Y (1969) Total anomalous pulmonary venous drainage: a clinical and anatomical study of 75 children. Br Heart J 31:45–51
Herlong JR, Jaggers JJ, Ungerleider RM (2000) Congenital Heart Surgery Nomenclature and Database Project: pulmonary venous anomalies. Ann Thorac Surg 69:S56–S69
Stein P (2007) Total anomalous pulmonary venous connection. Aorn J 85:509–520
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 6:44–64
Burroughs JT, Edwards JE (1960) Total anomalous pulmonary venous connection. Am Heart J 59:913–931
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 44:2221–2226
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 95:108
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 29:468–474
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 19:1286–1301
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 19:760–765
Deruiter MC, Poelmann RE, Mentink MMT, Vaniperen L, Gittenberger-De Groot AC (1993) Early formation of the vascular system in quail embryos. Anat Rec 235:261
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 243:84
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 87:305–309
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 97:662–670
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 238:183
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 65:27–32
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 196:129
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:129
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 102:309–323
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 115:790
Robin NH, Shprintzen RJ (2005) Defining the clinical spectrum of deletion 22q11.2. J Pediatr 147:90
Anderson RH, Cook AC (2007) The structure and components of the atrial chambers. Europace 9(Suppl 6):vi3–vi9
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 134:302–312
Wentzel C, Fernström M, Ohrner Y, Annerén G, Thuresson AC (2008) Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet 51:501–510
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 71:177–182
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 8:1157
Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74
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 73:1027
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:1608–1613
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 68:743–750
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 10:267
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:e5552
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 5:877
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 57:11–16
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 36:1642–1646
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):94–100
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 52:203
Anderson RH, Brown NA, Moorman AF (2006) Development and structures of the venous pole of the heart. Dev Dyn 235:2–9
Iii MTP, Waldo K, Kirby ML (1989) Neural crest ablation does not alter pulmonary vein development in the chick embryo. Anat Rec 223:292
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 131:3217–3227
Bajolle F, Zaffran S, Losay J, Ou P, Buckingham M, Bonnet D (2009) Conotruncal defects associated with anomalous pulmonary venous connections. Arch Cardiovasc Dis 102:105–110