张洁馨,赵志远,荆志成

• 1:中国医学科学院北京协和医学院北京协和医院疑难重症及罕见病国家重点实验室北京协和医院心内科

摘要(Abstract)：

先天性心脏病（CHD）会影响到约1%的新生儿。由于医疗保健技术和政策的进步，越来越多的CHD患儿可存活至成年阶段，需要更加密切关注这些成年CHD患者的长期管理策略，这是不容忽视的公共卫生问题，特别是在发展中国家。2022年全球在CHD领域又有较大进步，在PubMed、Web of Science等数据库中可检索到2022年国际公认权威学术杂志上有21篇有关CHD的原创研究论著，其中10篇源自美国，7篇源自欧洲，2篇源自中国，1篇源自加拿大，1篇源自澳大利亚。其中，我国的2项研究主要关注了CHD及其并发症的致病机制（分别发表于Advanced Science和Microbiome），但缺乏解决CHD难题的大样本量、高质量前瞻性临床研究，这也提示在未来CHD研究领域中需要不断深耕的方向——凝聚力量，有组织地设计高质量的中国多中心研究，解决成年CHD，特别是艾森曼格综合征的问题。

关键词(KeyWords)： 先天性心脏病;致病因素;诊疗策略;并发症管理;预后;发病机制

Abstract:

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基金项目(Foundation):

作者(Author): 张洁馨,赵志远,荆志成

参考文献(References)：

• [1] Sadhwani A,Wypij D, Rofeberg V, et al. Fetal brain volume predicts neurodevelopment in congenital heart disease[J]. Circulation,2022, 145(15):1108-1119. DOI:10.1161/circulationaha.121.056305.
• [2] Ward EJ, Bert S, Fanti S, et al. Placental inflammation leads to abnormal embryonic heart development[J]. Circulation, 2022.DOI:10.1161/CIRCULATIONAHA.122.061934. Online ahead of print.
• [3] Zhang X, Liu L, Chen WC, et al. Gestational leucylation suppresses embryonic t-box transcription factor 5 signal and causes congenital heart disease[J]. Adv Sci(Weinh), 2022, 9(15):e2201034.DOI:10.1002/advs.202201034.
• [4] Van Bulck L, Goossens E, Morin L, et al. Last year of life of adults with congenital heart diseases:causes of death and patterns of care[J]. Eur Heart J, 2022, 43(42):4483-4492. DOI:10.1093/eurheartj/ehac484.
• [5] Icheva V, Ebert J, Budde U, et al. Perioperative diagnosis and impact of acquired von Willebrand syndrome in infants with congenital heart disease[J]. Blood, 2023, 141(1):102-110. DOI:10.1182/blood.2022015699.
• [6] Breeyear JH, Keaton JM, Torstenson ES, et al. Diastolic blood pressure alleles improve congenital heart defect repair outcomes[J]. Circ Res,2022, 130(7):1030-1037. DOI:10.1161/circresaha.121.319842.
• [7] Schlapbach LJ, Gibbons KS, Horton SB, et al. Effect of nitric oxide via cardiopulmonary bypass on ventilator-free days in young children undergoing congenital heart disease surgery:the NITRIC randomized clinical trial[J]. JAMA, 2022, 328(1):38-47. DOI:10.1001/jama.2022.9376.
• [8] El-Chouli M, Meddis A, Christensen DM, et al. Lifetime risk of comorbidity in patients with simple congenital heart disease:a Danish nationwide study[J]. Eur Heart J, 2022, ehac727. DOI:10.1093/eurheartj/ehac727.
• [9] Karazisi C,Dellborg M, Mellgren K, et al. Risk of cancer in young and older patients with congenital heart disease and the excess risk of cancer by syndromes, organ transplantation and cardiac surgery:Swedish health registry study(1930-2017)[J]. Lancet Reg Health Eur, 2022, 18:100407. DOI:10.1016/j.lanepe.2022.100407.
• [10] Eckerstr?m F, Nyboe C, Maagaard M, et al. Survival of patients with congenital ventricular septal defect[J]. Eur Heart J, 2023, 44(1):54-61. DOI:10.1093/eurheartj/ehac618.
• [11] Dellborg M, Giang KW, Eriksson P, et al. Adults with congenital heart disease:trends in event-free survival past middle age[J].Circulation, 2022. DOI:10.1161/CIRCULATIONAHA.122.060834.Online ahead of print.
• [12] Sengupta A, Gauvreau K, Kohlsaat K, et al. Long-term outcomes of patients requiring unplanned repeated interventions after surgery for congenital heart disease[J]. J Am Coll Cardiol, 2022, 79(25):2489-2499. DOI:10.1016/j.jacc.2022.04.027.
• [13] Wichert-Schmitt B, Grewal J, Malinowski AK, et al. Outcomes of pregnancy in women with bioprosthetic heart valves with or without valve dysfunction[J]. J Am Coll Cardiol, 2022, 80(21):2014-2024. DOI:10.1016/j.jacc.2022.09.019.
• [14] Egbe AC, Miranda WR, Pellikka PA, et al. Prevalence and prognostic implications of left ventricular systolic dysfunction in adults with congenital heart disease[J]. J Am Coll Cardiol, 2022,79(14):1356-1365. DOI:10.1016/j.jacc.2022.01.040.
• [15] Chubb H, Bulic A, Mah D, et al. Impact and modifi ers of ventricular pacing in patients with single ventricle circulation[J]. J Am Coll Cardiol, 2022, 80(9):902-914. DOI:10.1016/j.jacc.2022.05.053.
• [16] Sengupta A, Gauvreau K, Bucholz EM, et al. Contemporary socioeconomic and childhood opportunity disparities in congenital heart surgery[J]. Circulation, 2022, 146(17):1284-1296. DOI:10.1161/CIRCULATIONAHA.122.060030.
• [17] Ameen M, Sundaram L, Shen M, et al. Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease[J]. Cell, 2022,185(26):4937-4953.e23. DOI:10.1016/j.cell.2022.11.028.
• [18] Huang Y, Lu W, Zeng M, et al. Mapping the early life gut microbiome in neonates with critical congenital heart disease:multiomics insights and implications for host metabolic and immunological health[J]. Microbiome, 2022, 10(1):245. DOI:10.1186/s40168-022-01437-2.
• [19] Feng W, Bais A, He H, et al. Single-cell transcriptomic analysis identifi es murine heart molecular features at embryonic and neonatal stages[J]. Nat Commun, 2022, 13(1):7960. DOI:10.1038/s41467-022-35691-7.
• [20] Xu X, Jin K, Bais AS, et al. Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease[J]. Cell Stem Cell, 2022, 29(5):840-855.e7. DOI:10.1016/j.stem.2022.03.003.
• [21] Tripathi D, Reddy S. iPSC model of congenital heart disease predicts disease outcome[J]. Cell Stem Cell, 2022, 29(5):659-660. DOI:10.1016/j.stem.2022.04.010.
• [22] Hill MC, Kadow ZA, Long H, et al. Integrated multi-omic characterization of congenital heart disease[J]. Nature, 2022, 608(7921):181-191. DOI:10.1038/s41586-022-04989-3.