完全性肺静脉异位引流的发病机制研究进展
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摘要
完全性肺静脉异位引流(total anomalous pulmonary venous connection,TAPVC)是一类罕见而又严重的先天性心脏病。TAPVC是因肺静脉未能与左心房相连,而直接与右心房或体循环静脉系统连接,导致该类患儿生长发育明显受限,生后全身紫绀及缺氧表现逐渐加重,严重威胁患儿的生命,需尽早手术干预。TAPVC的发病原因和机制尚未完全明确,近年来随着现代分子遗传学的发展,对其的发病机制有了初步的认识,本文就TAPVC发病机制研究进展作一概述。
Total anomalous pulmonary venous connection(TAPVC) is a rare and serious congenital heart disease, in which none of the pulmonary veins connect to the left atrium and instead directly connectto the right atrium or the systemic venous system. The growth and development of children with TAPVC is significantly limited. TAPVC-induced cyanosis and tissue hypoxia is gradually worsened after birth, which seriously threatens the life of those affected. TAPVC is an absolute indication for surgical repair. However, its causes and mechanisms are still unclear. In recent years, the development of modern molecular genetics has led to a preliminary understanding of the pathogenesis of TAPVC. This article reviews research progress in the pathogenesis of TAPVC and clinical implications.
Total anomalous pulmonary venous connection(TAPVC) is a rare and serious congenital heart disease, in which none of the pulmonary veins connect to the left atrium and instead directly connectto the right atrium or the systemic venous system. The growth and development of children with TAPVC is significantly limited. TAPVC-induced cyanosis and tissue hypoxia is gradually worsened after birth, which seriously threatens the life of those affected. TAPVC is an absolute indication for surgical repair. However, its causes and mechanisms are still unclear. In recent years, the development of modern molecular genetics has led to a preliminary understanding of the pathogenesis of TAPVC. This article reviews research progress in the pathogenesis of TAPVC and clinical implications.
引文
[1] Correa-Villasenor A,Ferencz C,Boughman JA,et al.Total anomalous pulmonary venous return:familial and environmental factors.The Baltimore-Washington Infant Study Group[J].Teratology,1991,44(4):415-428.
[2] White CS,Baffa JM,Haney PJ,et al.Anomalies of pulmonary veins:usefulness of spin-echo and gradient-echo MR images[J].AJR Am J Roentgenol,1998,170(5):1365-1368.
[3] Douglas YL,Jongbloed MR,den Hartog WC,et al.Pulmonary vein and atrial wall pathology in human total anomalous pulmonary venous connection[J].Int J Cardiol,2009,134(3):302-312.
[4] Lin AE,Pober BR,Mullen MP,et al.Cardiovascular malformations in Fryns syndrome:is there a pathogenic role for neural crest cells?[J].Am J Med Genet A,2005,139(3):186-193.
[5] Ramer JC,Mowrey PN,Robins DB,et al.Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family:review of brain,cardiac,and limb malformations[J].Am J Med Genet,1990,37(3):392-400.
[6] Wu CH,Hwu WL,Wang JK,et al.Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return[J].Am J Med Genet,2001,103(3):245-248.
[7] Harris DL,Siu BL,Hummel M,et al.Mosaic ring 12p and total anomalous pulmonary venous return[J].Am J Med Genet A,2004,131(1):91-93.
[8] Cinquetti R,Badi I,Campione M,et al.Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return[J].Hum Mutat,2008,29(4):468-474.
[9]Bleyl S,Nelson L,Odelberg SJ,et al.A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12[J].AM J HUM GENET,1995,56(2):408-415.
[10]Bleyl SB,Saijoh Y,Bax NA,et al.Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR:integrating evidence from human genetics and model organisms[J].Hum Mutat,2010,19(7):1286-1301.
[11]Degenhardt K,Singh MK,Aghajanian H,et al.Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections[J].Nat Med,2013,19(6):760-765.
[12]Nash D,Arrington CB,Kennedy BJ,et al.Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR)[J].Plos One,2015,10(6):e131514.
[13]Li J,Yang S,Pu Z,et al.Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population[J].Oncotarget,2017,8(17):27812-27819.
[14]Mills JL.Malformations in infants of diabetic mothers.Teratology 25:385-94.1982[J].Birth Defects Res A Clin Mol Teratol,2010,88(10):769-778.
[15]Jackson LW,Correa-Villasenor A,Lees PS,et al.Parental lead exposure and total anomalous pulmonary venous return[J].Birth Defects Res A Clin Mol Teratol,2004,70(4):185-193.
[16]Jenkins KJ,Correa A,Feinstein JA,et al.Noninherited risk factors and congenital cardiovascular defects:current knowledge:a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young:endorsed by the American Academy of Pediatrics[J].Circulation,2007,115(23):2995-3014.
[17]Alvarado-Terrones EG,Perea-Cabrera M,Klunder-Klunder M,et al.Maternal obesity as a risk factor for the development of total anomalous pulmonary venous connection in their offspring[J].Arch Med Res,2018,49(2):109-113.
[18]Carmichael SL,Rasmussen SA,Shaw GM.Prepregnancy obesity:a complex risk factor for selected birth defects[J].Birth Defects Res A Clin Mol Teratol,2010,88(10):804-810.
[19]Cai GJ,Sun XX,Zhang L,et al.Association between maternal body mass index and congenital heart defects in offspring:a systematic review[J].Am J Obstet Gyneco,2014,211(2):91-117.
[20]Feng Y,Wang S,Zhao L,et al.Maternal reproductive history and the risk of congenital heart defects in offspring:a systematic review and meta-analysis[J].Pediatr Cardiol,2015,36(2):253-263.
[21]Feng Y,Yu D,Chen T,et al.Maternal parity and the risk of congenital heart defects in offspring:a dose-response meta-analysis of epidemiological observational studies[J].Plos One,2014,9(10):e108944.
[22]Grisaru-Granovsky S,Gordon ES,Haklai Z,et al.Effect of interpregnancy interval on adverse perinatal outcomes--a national study[J].Contraception,2009,80(6):512-518.
[23]Nilsen RM,Mastroiacovo P,Gunnes N,et al.Folic acid supplementation and interpregnancy interval[J].Paediatr Perinat Epidemiol,2014,28(3):270-274.
[24]Gill SK,Broussard C,Devine O,et al.Association between maternal age and birth defects of unknown etiology:United States,1997-2007[J].Birth Defects Res A Clin Mol Teratol,2012,94(12):1010-1018.
[2] White CS,Baffa JM,Haney PJ,et al.Anomalies of pulmonary veins:usefulness of spin-echo and gradient-echo MR images[J].AJR Am J Roentgenol,1998,170(5):1365-1368.
[3] Douglas YL,Jongbloed MR,den Hartog WC,et al.Pulmonary vein and atrial wall pathology in human total anomalous pulmonary venous connection[J].Int J Cardiol,2009,134(3):302-312.
[4] Lin AE,Pober BR,Mullen MP,et al.Cardiovascular malformations in Fryns syndrome:is there a pathogenic role for neural crest cells?[J].Am J Med Genet A,2005,139(3):186-193.
[5] Ramer JC,Mowrey PN,Robins DB,et al.Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family:review of brain,cardiac,and limb malformations[J].Am J Med Genet,1990,37(3):392-400.
[6] Wu CH,Hwu WL,Wang JK,et al.Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return[J].Am J Med Genet,2001,103(3):245-248.
[7] Harris DL,Siu BL,Hummel M,et al.Mosaic ring 12p and total anomalous pulmonary venous return[J].Am J Med Genet A,2004,131(1):91-93.
[8] Cinquetti R,Badi I,Campione M,et al.Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return[J].Hum Mutat,2008,29(4):468-474.
[9]Bleyl S,Nelson L,Odelberg SJ,et al.A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12[J].AM J HUM GENET,1995,56(2):408-415.
[10]Bleyl SB,Saijoh Y,Bax NA,et al.Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR:integrating evidence from human genetics and model organisms[J].Hum Mutat,2010,19(7):1286-1301.
[11]Degenhardt K,Singh MK,Aghajanian H,et al.Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections[J].Nat Med,2013,19(6):760-765.
[12]Nash D,Arrington CB,Kennedy BJ,et al.Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR)[J].Plos One,2015,10(6):e131514.
[13]Li J,Yang S,Pu Z,et al.Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population[J].Oncotarget,2017,8(17):27812-27819.
[14]Mills JL.Malformations in infants of diabetic mothers.Teratology 25:385-94.1982[J].Birth Defects Res A Clin Mol Teratol,2010,88(10):769-778.
[15]Jackson LW,Correa-Villasenor A,Lees PS,et al.Parental lead exposure and total anomalous pulmonary venous return[J].Birth Defects Res A Clin Mol Teratol,2004,70(4):185-193.
[16]Jenkins KJ,Correa A,Feinstein JA,et al.Noninherited risk factors and congenital cardiovascular defects:current knowledge:a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young:endorsed by the American Academy of Pediatrics[J].Circulation,2007,115(23):2995-3014.
[17]Alvarado-Terrones EG,Perea-Cabrera M,Klunder-Klunder M,et al.Maternal obesity as a risk factor for the development of total anomalous pulmonary venous connection in their offspring[J].Arch Med Res,2018,49(2):109-113.
[18]Carmichael SL,Rasmussen SA,Shaw GM.Prepregnancy obesity:a complex risk factor for selected birth defects[J].Birth Defects Res A Clin Mol Teratol,2010,88(10):804-810.
[19]Cai GJ,Sun XX,Zhang L,et al.Association between maternal body mass index and congenital heart defects in offspring:a systematic review[J].Am J Obstet Gyneco,2014,211(2):91-117.
[20]Feng Y,Wang S,Zhao L,et al.Maternal reproductive history and the risk of congenital heart defects in offspring:a systematic review and meta-analysis[J].Pediatr Cardiol,2015,36(2):253-263.
[21]Feng Y,Yu D,Chen T,et al.Maternal parity and the risk of congenital heart defects in offspring:a dose-response meta-analysis of epidemiological observational studies[J].Plos One,2014,9(10):e108944.
[22]Grisaru-Granovsky S,Gordon ES,Haklai Z,et al.Effect of interpregnancy interval on adverse perinatal outcomes--a national study[J].Contraception,2009,80(6):512-518.
[23]Nilsen RM,Mastroiacovo P,Gunnes N,et al.Folic acid supplementation and interpregnancy interval[J].Paediatr Perinat Epidemiol,2014,28(3):270-274.
[24]Gill SK,Broussard C,Devine O,et al.Association between maternal age and birth defects of unknown etiology:United States,1997-2007[J].Birth Defects Res A Clin Mol Teratol,2012,94(12):1010-1018.