先天性心脏病相关肺动脉高压致病因素研究进展
Research Progress in Pathogenic Factors of Congenital Heart Disease Associated with Pulmonary Arterial Hypertension
DOI: 10.12677/ACM.2023.134787, PDF,    科研立项经费支持
作者: 艾力夏提·阿地力：新疆医科大学第一附属医院冠心病一科，新疆 乌鲁木齐；陈 铀*：新疆医科大学第一附属医院心脏中心，新疆 乌鲁木齐
关键词: 先天性心脏病相关肺动脉高压；致病因素；研究进展；Congenital Heart Disease Associated Pulmonary Arterial Hypertension； Pathogenic Factors； Recent Research Progress
摘要: 先天性心脏病相关肺动脉高压(Congenital heart disease-associated pulmonary arterial hyperten-sion, CHD-PAH)是心血管发育异常导致肺动脉压力增高的一种疾病，其致病因素的研究受到广泛关注。CHD-PAH的病因和发病机制尚未完全明确，随着一些新技术的发展，又发现了许多该病的致病因素，其致病因素可分为遗传因素和环境因素两方面。现对近年来CHD-PAH的致病因素即环境因素及遗传因素两方面的研究进展进行综述。
Abstract: Congenital Heart Disease-associated Pulmonary Arterial Hypertension (CHD-PAH) is a disease in which abnormal cardiovascular development leads to increased pulmonary artery pressure. Studies on the pathogenic factors of the disease have received wide attention. The etiology and pathogenesis of CHD-PAH are not fully understood. With the development of some new technologies, many pathogenic factors of the disease have been discovered. Its pathogenic factors can be divided into genetic factors and environmental factors. Recent research progress in the pathogenesis of CHD-PAH, namely environmental and genetic factors, is reviewed.
文章引用：艾力夏提·阿地力, 陈铀. 先天性心脏病相关肺动脉高压致病因素研究进展[J]. 临床医学进展, 2023, 13(4): 5569-5576. https://doi.org/10.12677/ACM.2023.134787

参考文献

[1] Zhu, N., Welch, C.L., Wang, J., et al. (2018) Rare Variants in SOX17 Are Associated with Pulmonary Arterial Hyper-tension with Congenital Heart Disease. Genome Medicine, 10, Article No. 56. [Google Scholar] [CrossRef] [PubMed]
[2] Rosenzweig, E.B. and Krishnan, U. (2021) Congenital Heart Disease-Associated Pulmonary Hypertension. Clinics in Chest Medicine, 42, 9-18. [Google Scholar] [CrossRef] [PubMed]
[3] Brida, M. and Gatzoulis, M.A. (2018) Pulmonary Arterial Hyper-tension in Adult Congenital Heart Disease. Heart, 104, 1568-1574. [Google Scholar] [CrossRef] [PubMed]
[4] Perez-Lescure, P.J., Mosquera, G.M., Latasa, Z.P., et al. (2018) Congenital Heart Disease Mortality in Spain during a 10 Year Period (2003-2012). Anales de Pediatría, 88, 273-279. [Google Scholar] [CrossRef] 
[5] Zhu, N., Swietlik, E.M., Welch, C.L., et al. (2021) Rare Variant Analysis of 4241 Pulmonary Arterial Hypertension Cases from an International Consortium Implicates FBLN2, PDGFD, and Rare De Novo Variants in PAH. Genome Medicine, 13, Article No. 80. [Google Scholar] [CrossRef] [PubMed]
[6] Corada, M., Orsenigo, F., Morini, M.F., et al. (2013) Sox17 Is Indispensable for Acquisition and Maintenance of Arterial Identity. Nature Communications, 4, Article No. 2609. [Google Scholar] [CrossRef] [PubMed]
[7] Zhao, L., Jiang, W.F., Yang, C.X., et al. (2021) SOX17 Loss-of-Function Variation Underlying Familial Congenital Heart Disease. European Journal of Medical Genetics, 64, Article 104211. [Google Scholar] [CrossRef] [PubMed]
[8] Zhu, N., Pauciulo, M.W., Welch, C.L., et al. (2019) Novel Risk Genes and Mechanisms Implicated by Exome Sequencing of 2572 Individuals with Pulmonary Ar-terial Hypertension. Genome Medicine, 11, Article No. 69. [Google Scholar] [CrossRef] [PubMed]
[9] Hiraide, T., Kataoka, M., Suzuki, H., et al. (2018) SOX17 Muta-tions in Japanese Patients with Pulmonary Arterial Hypertension. American Journal of Respiratory and Critical Care Medicine, 198, 1231-1233. [Google Scholar] [CrossRef] 
[10] Welch, C.L. and Chung, W.K. (2020) Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension. Chest, 157, 1287-1295. [Google Scholar] [CrossRef] [PubMed]
[11] Arora, R., Metzger, R.J. and Papaioannou, V.E. (2012) Multiple Roles and Interactions of Tbx4 and Tbx5 in Development of the Respiratory System. PLOS Genetics, 8, e1002866. [Google Scholar] [CrossRef] [PubMed]
[12] Welch, C.L. and Chung, W.K. (2020) Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension. Genes, 11, Article 1213. [Google Scholar] [CrossRef] [PubMed]
[13] Galambos, C., Mullen, M.P., Shieh, J.T., et al. (2019) Phenotype Characterisation of TBX4 Mutation and Deletion Carriers with Neonatal and Paediatric Pulmonary Hypertension. The European Respiratory Journal, 54, Article 1801965. [Google Scholar] [CrossRef] [PubMed]
[14] Hernandez-Gonzalez, I., Tenorio, J., Palomino-Doza, J., et al. (2020) Clinical Heterogeneity of Pulmonary Arterial Hypertension Associated with Variants in TBX4. PLOS ONE, 15, e0232216. [Google Scholar] [CrossRef] [PubMed]
[15] Abou, H.O.K., Haidar, W., Nemer, G., et al. (2018) Clinical and Genetic Characteristics of Pulmonary Arterial Hypertension in Lebanon. BMC Medical Genetics, 19, Article No. 89. [Google Scholar] [CrossRef] [PubMed]
[16] Morrell, N.W., Aldred, M.A., Chung, W.K., et al. (2019) Genetics and Genomics of Pulmonary Arterial Hypertension. The European Respiratory Journal, 53, Article 1801899. [Google Scholar] [CrossRef] [PubMed]
[17] Bajolle, F., Malekzadeh-Milani, S., Levy, M., et al. (2021) Multifactorial Origin of Pulmonary Hypertension in a Child with Congenital Heart Disease, Down Syndrome, and BMPR-2 Mutation. Pulmonary Circulation, 11, 1-3. [Google Scholar] [CrossRef] [PubMed]
[18] Du, M., Jiang, H., Liu, H., et al. (2021) Single-Cell RNA Se-quencing Reveals that BMPR2 Mutation Regulates Right Ventricular Function via ID Genes. European Respiratory Journal, 60, Article 2100327. [Google Scholar] [CrossRef] [PubMed]
[19] Chen, M.H., Walsh, C.A. (1993) Flna Deficiency. Adam, M.P., Ardinger, H.H., Pagon, R.A., et al. GeneReviews ((R)). Seattle (WA).
[20] Deng, X., Li, S., Qiu, Q., et al. (2020) Where the Congenital Heart Disease Meets the Pulmonary Arterial Hypertension, FLNA Matters: A Case Report and Literature Review. BMC Pediatrics, 20, Article No. 504. [Google Scholar] [CrossRef] [PubMed]
[21] Burrage, L.C., Guillerman, R.P., Das, S., et al. (2017) Lung Transplantation for FLNA-Associated Progressive Lung Disease. The Journal of Pediatrics, 186, 118-123. [Google Scholar] [CrossRef] [PubMed]
[22] Mori, S., Tanoue, K., Shimizu, H., et al. (2021) Lung Disease due to FLNA Mutation Improved after Shunt Closure for Congenital Heart Disease. Pediatric Pulmonology, 56, 1280-1282. [Google Scholar] [CrossRef] [PubMed]
[23] Li, J., Yang, S., Pu, Z., et al. (2017) Whole-Exome Sequencing Identifies SGCD and ACVRL1 Mutations Associated with Total Anomalous Pulmonary Venous Return (TAPVR) in Chinese Population. Oncotarget, 8, 27812-27819. [Google Scholar] [CrossRef] [PubMed]
[24] Wu, B., Li, J., Wang, Y., et al. (2021) Recurrent Germline Muta-tions as Genetic Markers for Aortic Root Dilatation in Bicuspid Aortic Valve Patients. Heart and Vessels, 36, 530-540. [Google Scholar] [CrossRef] [PubMed]
[25] Haarman, M.G., Kerstjens-Frederikse, W.S., Vissia-Kazemier, T.R., et al. (2020) The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. The Journal of Pediatrics, 225, 65-73. [Google Scholar] [CrossRef] [PubMed]
[26] Gelinas, S.M., Benson, C.E., Khan, M.A., et al. (2020) Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension. Genes, 11, Article 1328. [Google Scholar] [CrossRef] [PubMed]
[27] Bush, D., Galambos, C. and Dunbar, I.D. (2021) Pulmonary Hyper-tension in Children with Down Syndrome. Pediatric Pulmonology, 56, 621-629. [Google Scholar] [CrossRef] [PubMed]
[28] Espinola-Zavaleta, N., Soto, M.E., Romero-Gonzalez, A., et al. (2015) Prevalence of Congenital Heart Disease and Pulmonary Hypertension in Down’s Syndrome: An Echocardiographic Study. Cardiovascular Ultrasound, 23, 72-77. [Google Scholar] [CrossRef] [PubMed]
[29] Masaki, N., Saiki, Y., Endo, M., et al. (2018) Is Trisomy 21 a Risk Factor for Rapid Progression of Pulmonary Arteriopathy?—Revisiting Histopathological Characteristics Using 282 Lung Biopsy Specimens. Circulation Journal, 82, 1682-1687. [Google Scholar] [CrossRef] 
[30] Yu, X., Zhang, Y., Luo, Q., et al. (2018) Iron Deficiency in Pulmonary Arterial Hypertension Associated with Congenital Heart Disease. Scandinavian Cardiovascular Journal, 52, 378-382. [Google Scholar] [CrossRef] [PubMed]
[31] Yang, J., Kang, Y., Cheng, Y., et al. (2020) Iron Intake and Iron Status during Pregnancy and Risk of Congenital Heart Defects: A Case-Control Study. International Journal of Cardiology, 301, 74-79. [Google Scholar] [CrossRef] [PubMed]
[32] Low, A., George, S., Howard, L., et al. (2018) Lung Function, Inflammation, and Endothelin-1 in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension. Journal of the American Heart Association, 7, e007249 [Google Scholar] [CrossRef] 
[33] 郑杨, 杨爱君. 新生儿重症肺炎合并先天性心脏病、肺动脉高压临床分析[J]. 中国医刊, 2015, 50(11): 20-22.
[34] Fischer-Betz, R. and Specker, C. (2017) Pregnancy in Systemic Lupus Erythematosus and Antiphospholipid Syndrome. Best Practice & Research Clinical Rheumatology, 31, 397-414. [Google Scholar] [CrossRef] [PubMed]
[35] Liu, J., Zhao, Y., Song, Y., et al. (2012) Pregnancy in Women with Systemic Lupus Erythematosus: A Retrospective Study of 111 Pregnancies in Chinese Women. The Journal of Maternal-Fetal & Neonatal Medicine, 25, 261-266. [Google Scholar] [CrossRef] [PubMed]
[36] Maltret, A., Morel, N., Levy, M., et al. (2021) Pulmonary Hypertension Associated with Congenital Heart Block and Neonatal Lupus Syndrome: A Series of Four Cases. Lupus, 30, 307-314. [Google Scholar] [CrossRef] [PubMed]
[37] Lassi, Z.S., Imam, A.M., Dean, S.V., et al. (2014) Preconception Care: Caffeine, Smoking, Alcohol, Drugs and Other Environmental Chemical/Radiation Exposure. Reproductive Health, 11, Article No. S6. [Google Scholar] [CrossRef] 
[38] Baldacci, S., Gorini, F., Santoro, M., et al. (2018) Environmental and Individual Exposure and the Risk of Congenital Anomalies: A Review of Recent Epidemiological Evidence. Epidemiologia & Prevenzione, 42, 1-34.
[39] Chen, Z., Li, S., Guo, L., et al. (2021) Prenatal Alcohol Exposure Induced Congenital Heart Diseases: From Bench to Bedside. Birth Defects Research, 113, 521-534. [Google Scholar] [CrossRef] [PubMed]
[40] Li, X., Gao, A., Wang, Y., et al. (2016) Alcohol Exposure Leads to Un-recoverable Cardiovascular Defects Along with Edema and Motor Function Changes in Developing Zebrafish Larvae. Biology Open, 5, 1128-1133. [Google Scholar] [CrossRef] [PubMed]
[41] 常琦, 任明山, 吴元波. 抗癫痫药物的致畸作用[J]. 中国神经免疫学和神经病学杂志, 2016, 23(1): 55-58.
[42] De Vries, C., Gadzhanova, S., Sykes, M.J., et al. (2021) A Systematic Re-view and Meta-Analysis Considering the Risk for Congenital Heart Defects of Antidepressant Classes and Individual Antidepressants. Drug Safety, 44, 291-312. [Google Scholar] [CrossRef] [PubMed]
[43] Huybrechts, K.F., Hernandez-Diaz, S., Patorno, E., et al. (2016) Antipsychotic Use in Pregnancy and the Risk for Congenital Malformations. JAMA Psychiatry, 73, 938-946. [Google Scholar] [CrossRef] [PubMed]
[44] Padula, A.M., Yang, W., Schultz, K., et al. (2021) Gene-Environment Interactions between Air Pollution and Biotransformation Enzymes and Risk of Birth Defects. Birth Defects Research, 113, 676-686. [Google Scholar] [CrossRef] [PubMed]
[45] Dadvand, P., Rankin, J., Rushton, S., et al. (2011) Ambient Air Pollution and Congenital Heart Disease: A Register-Based Study. Environmental Research, 111, 435-441. [Google Scholar] [CrossRef] [PubMed]
[46] Liu, C.B., Hong, X.R., Shi, M., et al. (2017) Effects of Prenatal PM10 Exposure on Fetal Cardiovascular Malformations in Fuzhou, China: A Retrospective Case-Control Study. Environmental Health Perspectives, 125, Article 057001. [Google Scholar] [CrossRef] 
[47] 祁生贵, 祁国荣, 陈秋红, 等. 藏族先天性心脏病合并肺动脉高压影响因素分析[J]. 中国公共卫生, 2012, 28(4): 466-468.
[48] 陈秋红, 路霖, 祁国荣, 等. 高原地区先天性心脏病并发肺动脉高压的调查分析[J]. 中华医学杂志, 2011, 91(44): 3120-3122.
[49] Goldstein, S.A. and Krasuski, R.A. (2022) Pulmonary Hypertension in Adults with Congenital Heart Disease. Cardiology Clinics, 40, 55-67. [Google Scholar] [CrossRef] [PubMed]

为你推荐