[1. van der Linde D, Konings EE, Slager MA, et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol. 2011;58(21):2241-7.10.1016/j.jacc.2011.08.02522078432]Search in Google Scholar
[2. Ishikawa T, Iwashima S, Ohishi A, Nakagawa Y, Ohzeki T. Prevalence of congenital heart disease assessed by echocardiography in 2067 consecutive newborns. Acta Paediatr. 2011;100(8):e55-60.10.1111/j.1651-2227.2011.02248.x21362039]Search in Google Scholar
[3. Kelly RG. The second heart field. Curr Top Dev Biol. 2012;100:33-65.10.1016/B978-0-12-387786-4.00002-622449840]Search in Google Scholar
[4. Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ. Ventricular septal defect. Orphanet J Rare Dis. 2014;9:144.10.1186/s13023-014-0144-2431665825523232]Search in Google Scholar
[5. Corno A. Atrioventricular septal defect. Congenital Heart Defects. Springer-Verlag Berlin Heidelberg 2003;25–32.10.1007/978-3-642-57358-3_5]Search in Google Scholar
[6. Edwards JJ, Gelb BD. Genetics of congenital heart disease. Curr Opin Cardiol. 2016;31(3):235–241.10.1097/HCO.0000000000000274486850426872209]Search in Google Scholar
[7. Cowan JR, Ware SM. Genetics and genetic testing in congenital heart disease. Clin Perinatol. 2015;42(2):373-93.10.1016/j.clp.2015.02.00926042910]Search in Google Scholar
[8. Jin SC, Homsy J, Zaidi S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49(11):1593-1601.10.1038/ng.3970567500028991257]Search in Google Scholar
[9. An Y, Duan W, Huang G, et al. Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population. BMC Med Genomics. 2016;9:2.10.1186/s12920-015-0163-4470561626742958]Search in Google Scholar
[10. Du L, Xie HN, Li LJ, Zhu YX, Lin MF, Zheng J. [Association between fetal ventricular septal defects and chromosomal abnormalities].Zhonghua Fu Chan Ke Za Zhi. 2013;48(11):805-9.]Search in Google Scholar
[11. Zhang W, Li X, Shen A, Jiao W, Guan X, Li Z. GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur J Med Genet. 2008;51(6):527-35.10.1016/j.ejmg.2008.06.00518672102]Search in Google Scholar
[12. Jacobs JP, O’Brien SM, Pasquali SK, et al. Variation in outcomes for benchmark operations: an analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg. 2011;92(6):2184-91.10.1016/j.athoracsur.2011.06.008326375522115229]Search in Google Scholar
[13. Mirzaei M, Mirzaei S, Sepahvand E, Rahmanian Koshkaki A, Kargar Jahromi M. Evaluation of Complications of Heart Surgery in Children With Congenital Heart Disease at Dena Hospital of Shiraz. Glob J Health Sci. 2015 Aug 23;8(5):33-8.10.5539/gjhs.v8n5p33487722626652092]Search in Google Scholar
[14. Russell MW, Chung WK, Kaltman JR, Miller TA. Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. J Am Heart Assoc. 2018;7(6): e006906.10.1161/JAHA.117.006906590753729523523]Search in Google Scholar
[15. Dobreanu M, Oprea OR. Laboratory medicine in the era of precision medicine – dream or reality?. Rev Romana Med Lab. 2019;27(2):115-24.10.2478/rrlm-2019-0025]Search in Google Scholar
[16. Lazăr A, Georgescu AM, Vitin A, Azamfirei L. Precision Medicine and its Role in the Treatment of Sepsis: A Personalised View. J Crit Care Med (Targu Mures). 2019;5(3):90-96.10.2478/jccm-2019-0017669807431431921]Search in Google Scholar
[17. Marin TM, Keith K, Davies B, et al. Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest. 2011;121(3):1026-43.10.1172/JCI44972304937721339643]Search in Google Scholar
[18. Crauciuc A, Tripon F, Gheorghiu A, Nemes G, Boglis A, Banescu C. Development, Applications, Benefits, Challenges and Limitations of the New Genome Engineering Technique. An Update Study. Acta Medica Marisiensis. 2017;63(1):4-9.10.1515/amma-2017-0007]Search in Google Scholar
[19. Richards RM, Sotillo E, Majzner RG. CAR T Cell Therapy for Neuroblastoma. Front Immunol. 2018;9:2380.10.3389/fimmu.2018.02380623277830459759]Search in Google Scholar
[20. Ye F, Setozaki S, Kowalski J, et al. Progress in the Generation of Multiple Lineage Human-iPSC-Derived 3D-Engineered Cardiac Tissues for Cardiac Repair. In: Nakanishi T., Baldwin H., Fineman J., Yamagishi H. (eds) Molecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension. Springer, Singapore. 2020:353-361.10.1007/978-981-15-1185-1_54]Search in Google Scholar
[21. Jacinto FV, Link W, Ferreira BI. CRISPR/Cas9-mediated Genome Editing: From Basic Research to Translational Medicine. J Cell Mol Med. 2020;24(7):3766-3778.10.1111/jcmm.14916717140232096600]Search in Google Scholar
[22. Tripon F, Crauciuc GA, Moldovan VG, Bogliș A, Benedek IJ, Lázár E, et al. Simultaneous FLT3, NPM1 and DNMT3A mutations in adult patients with acute myeloid leukemia – case study. Rev Romana Med Lab. 2019;27(3):245-54.10.2478/rrlm-2019-0022]Search in Google Scholar
[23. Pierpont ME, Brueckner M, Chung WK, et al. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018;138(21):e653-e711.10.1161/CIR.0000000000000606655576930571578]Search in Google Scholar
[24. Maslen CL, Babcock D, Robinson SW, et al. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A. 2006;140(22):2501-5.10.1002/ajmg.a.3149417036335]Search in Google Scholar
[25. Levy M, Eyries M, Szezepanski I, et al. Genetic analyses in a cohort of children with pulmonary hypertension. Eur Respir J. 2016;48(4):1118-1126.10.1183/13993003.00211-201627587546]Search in Google Scholar
[26. Courtens W, Wauters J, Wojciechowski M, et al. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review. Clin Dysmorphol. 2007;16(4):231-9.10.1097/MCD.0b013e328274230317786114]Search in Google Scholar
[27. Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015;169(3):239-50.10.1002/ajmg.c.3144826285164]Search in Google Scholar
[28. Bunduki V, Zugaib M. Atlas of Fetal Ultrasound. Fetal Aneuploidies. Springer, Cham 2017;211-235.10.1007/978-3-319-54798-5_17]Search in Google Scholar
[29. Cai M, Huang H, Su L, et al. Chromosomal abnormalities and copy number variations in fetal ventricular septal defects.Mol Cytogenet. 2018;11:58.10.1186/s13039-018-0408-y626405230519285]Search in Google Scholar
[30. Carey AS, Liang L, Edwards J, et al. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet. 2013;6(5):444-51.10.1161/CIRCGENETICS.113.000189398796624021551]Search in Google Scholar
[31. Russell MW, Chung WK, Kaltman JR, Miller TA. Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. J Am Heart Assoc. 2018;7(6). pii: e006906.10.1161/JAHA.117.006906590753729523523]Search in Google Scholar
[32. Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015;8:189–200.]Search in Google Scholar
[33. Pierpont ME, Basson CT, Benson DW Jr. et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115(23):3015-38.10.1161/CIRCULATIONAHA.106.18305617519398]Search in Google Scholar
[34. McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E. Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics. 2003;112(6 Pt 1):e472.10.1542/peds.112.6.e47214654648]Search in Google Scholar
[35. Deshpande A, Weiss LA. Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders. Dev Neurobiol. 2018;78(5):519-530.10.1002/dneu.2258729575775]Search in Google Scholar
[36. Costain G, Silversides CK, Bassett AS. The importance of copy number variation in congenital heart disease. NPJ Genom Med. 2016;1:16031.10.1038/npjgenmed.2016.31550572828706735]Search in Google Scholar
[37. Bernier R, Steinman KJ, Reilly B, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016;18(4):341-9.10.1038/gim.2015.78726304426066539]Search in Google Scholar
[38. Guida V, Ferese R, Rocchetti M, et al. A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Eur J Hum Genet. 2013;21(1):69-75.10.1038/ejhg.2012.109353325822713807]Search in Google Scholar
[39. Saliba A, Figueiredo ACV, Baroneza JE, et al. Genetic and Genomics in Congenital Heart Disease: A Clinical Review. J Pediatr (Rio J). 2019:S0021-7557(19)30443-7.]Search in Google Scholar
[40. Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20(3): 251–257.10.1038/ejhg.2011.181328317221934706]Search in Google Scholar
[41. Lu F, Morrissette JJ, Spinner NB. Conditional JAG1 Mutation Shows the Developing Heart Is More Sensitive Than Developing Liver to JAG1 Dosage. Am J Hum Genet. 2003;72(4):1065–1070.10.1086/374386118033912649809]Search in Google Scholar
[42. Tsai EA, Gilbert MA, Grochowski CM, et al. THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.Cell Mol Gastroenterol Hepatol. 2016;2(5):663-675.10.1016/j.jcmgh.2016.05.013504288828090565]Search in Google Scholar
[43. McDermott DA, Bressan MC, He J, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005;58(5):981-6.10.1203/01.PDR.0000182593.95441.6416183809]Search in Google Scholar
[44. Barisic I, Boban L, Greenlees R, et al. Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 2014;9:156.10.1186/s13023-014-0156-y424518325344219]Search in Google Scholar
[45. Nyboe D, Kreiborg S, Darvann T, Dunø M, Nissen KR, Hove HB. A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.Clin Dysmorphol. 2018;27(3):71-77.10.1097/MCD.000000000000022229683802]Search in Google Scholar
[46. Massaad E, Tfayli H, Awwad J, Nabulsi M, Farra C. Char Syndrome a novel mutation and new insights: A clinical report. Eur J Med Genet. 2018. pii: S1769-7212(18)30785-7.]Search in Google Scholar
[47. Nyboe D, Kreiborg S, Darvann T, Dunø M, Nissen KR, Hove HB. A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. Clin Dysmorphol. 2018;27(3):71-77.10.1097/MCD.0000000000000222]Search in Google Scholar
[48. van Ravenswaaij-Arts CMA, Blake K, Martin DM. Support for the Diagnosis of CHARGE Syndrome. JAMA Otolaryngol Head Neck Surg. 2017;143(6):634-635.10.1001/jamaoto.2016.476228241200]Search in Google Scholar
[49. Corsten-Janssen N, van Ravenswaaij-Arts CMA, Kapusta L. Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. Int J Cardiol Heart Vasc. 2016;12:21-25.10.1016/j.ijcha.2016.05.015545415328616537]Search in Google Scholar
[50. Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, et al. The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet. 2013;6(3):248-54.10.1161/CIRCGENETICS.113.00005423677905]Search in Google Scholar
[51. Digilio MC, Gnazzo M, Lepri F. et al. Congenital heart defects in molecularly proven Kabuki syndrome patients. Am J Med Genet A. 2017;173(11):2912-2922.10.1002/ajmg.a.3841728884922]Search in Google Scholar
[52. Yoon JK, Ahn KJ, Kwon BS, et al. The strong association of left-side heart anomalies with Kabuki syndrome. Korean J Pediatr. 2015;58(7):256-62.10.3345/kjp.2015.58.7.256454318526300940]Search in Google Scholar
[53. Tartaglia M, Cordeddu V, Chang H, et al. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.Am J Hum Genet. 2004;75(3):492-7.10.1086/423493118202715248152]Search in Google Scholar
[54. Ramond F, Duband S, Croisille P, et al. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death. Eur J Med Genet. 2017;60(6):299-302.10.1016/j.ejmg.2017.03.00928347726]Search in Google Scholar
[55. Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007;39(1):70-4.10.1038/ng192617143285]Search in Google Scholar
[56. Ayerza Casas A, Puisac Uriol B, Teresa Rodrigo ME, Hernández Marcos M, Ramos Fuentes FJ, Pie Juste J. Cornelia De Lange Syndrome: Congenital Heart Disease in 149 Patients. Med Clin (Barc). 2017 Oct 11;149(7):300-302.10.1016/j.medcle.2017.03.024]Search in Google Scholar
[57. Yuan SM. Congenital Heart Defects in Williams Syndrome. Turk J Pediatr. 2017;59(3):225-232.10.24953/turkjped.2017.03.00129376566]Search in Google Scholar
[58. Bardawil T, Khalil S, Bergqvist C, et al. Genetics of Inherited Cardiocutaneous Syndromes: A Review. Open Heart. 2016 Nov 22;3(2):e000442.10.1136/openhrt-2016-000442513340327933191]Search in Google Scholar
[59. Fergelot P, Van Belzen M, Van Gils J, et al. Phenotype and Genotype in 52 Patients With Rubinstein-Taybi Syndrome Caused by EP300 Mutations. Am J Med Genet A. 2016 Dec;170(12):3069-3082.10.1002/ajmg.a.3794027648933]Search in Google Scholar
[60. Barisic I, Boban L, Akhmedzhanova D, et al. Beckwith Wiedemann Syndrome: A Population-Based Study on Prevalence, Prenatal Diagnosis, Associated Anomalies and Survival in Europe. Eur J Med Genet 2018 Sep;61(9):499-507.10.1016/j.ejmg.2018.05.01429753922]Search in Google Scholar
[61. Prosnitz AR, Leopold J, Irons M, Jenkins K, Roberts AE. Pulmonary Vein Stenosis in Patients With Smith-Lemli-Opitz Syndrome. Congenit Heart Dis. 2017 Jul;12(4):475-483.10.1111/chd.12471582518228719049]Search in Google Scholar
[62. Accogli A, Traverso M, Madia F, et al. A Novel Xp22.13 Microdeletion in Nance-Horan Syndrome. Birth Defects Res. 2017 Jul 3;109(11):866-868.10.1002/bdr2.103228464487]Search in Google Scholar
[63. Muntean I, Togănel R, Benedek T. Genetics of Congenital Heart Disease: Past and Present. Biochem Genet. 2017;55(2):105-123.10.1007/s10528-016-9780-727807680]Search in Google Scholar
[64. Pang S, Liu Y, Zhao Z, Huang W, Chen D, Yan B. Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects. Biochimie. 2013;95(9):1807-9.10.1016/j.biochi.2013.05.00723727221]Search in Google Scholar
[65. De Bock M, Kerrebrouck M, Wang N, Leybaert L. Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? Front Pharmacol. 2013;4:120.]Search in Google Scholar
[66. Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH. c Am J Med Genet A. 2013;161A(12):3150-4.10.1002/ajmg.a.3615924115525]Search in Google Scholar
[67. Wang B, Wen Q, Xie X, et al. Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects. Int J Cardiol. 2010;145(3):487-9.10.1016/j.ijcard.2009.06.02619615768]Search in Google Scholar
[68. Zaidi S, Choi M, Wakimoto H, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013;498(7453):220-3.10.1038/nature12141370662923665959]Search in Google Scholar
[69. Huang RT, Wang J, Xue S. et al. TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus. Int J Med Sci. 2017;14(4):323-332.10.7150/ijms.17834543647428553164]Search in Google Scholar
[70. Yoshida A, Morisaki H, Nakaji M, et al. Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease. J Hum Genet. 2016;61(2):157-62.10.1038/jhg.2015.12626490186]Search in Google Scholar
[71. Chen J, Qi B, Zhao J, Liu W, Duan R, Zhang M. A novel mutation of GATA4 (K300T) associated with familial atrial septal defect. Gene. 2016;575(2 Pt 2):473-477.10.1016/j.gene.2015.09.02126376067]Search in Google Scholar
[72. Han H, Chen Y, Liu G, Han Z, Zhao Z, Tang Y. GATA4 transgenic mice as an in vivo model of congenital heart disease. Int J Mol Med. 2015;35(6):1545-53.10.3892/ijmm.2015.2178443292525873328]Search in Google Scholar
[73. Kodo K, Nishizawa T, Furutani M, et al. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci U S A. 2009;106(33):13933-8.10.1073/pnas.0904744106272899819666519]Search in Google Scholar
[74. Allen HL, Flanagan SE, Shaw-Smith C. et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet. 2011;44(1):20-22.10.1038/ng.1035406296222158542]Search in Google Scholar
[75. Xu M, Wu X, Li Y, et al. CITED2 mutation and methylation in children with congenital heart disease. J Biomed Sci. 2014;21:7.10.1186/1423-0127-21-7391753524456003]Search in Google Scholar
[76. Behiry EG, Al-Azzouny MA, Sabry D, Behairy OG, Salem NE. Association of NKX2-5, GATA4, and TBX5 Polymorphisms With Congenital Heart Disease in Egyptian Children. Mol Genet Genomic Med. 2019 May;7(5):e612.10.1002/mgg3.612650302630834692]Search in Google Scholar
[77. Bogliș A, Tripon F, Bănescu C. The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability. Rev Romana Med Lab. 2018;26(4):471-7.10.2478/rrlm-2018-0033]Search in Google Scholar
[78. Bănescu C. Do we really need genetic tests in current practice?. Rev Romana Med Lab. 2019;27(1):9-14.10.2478/rrlm-2019-0010]Search in Google Scholar
[79. Kelle AM, Qureshi MY, Olson TM, Eidem BW, O’Leary PW. Familial Incidence of Cardiovascular Malformations in Hypoplastic Left Heart Syndrome. Am J Cardiol. 2015;116(11):1762-6.10.1016/j.amjcard.2015.08.04526433269]Search in Google Scholar
[80. Ito S, Chapman KA, Kisling M, John AS. Appropriate Use of Genetic Testing in Congenital Heart Disease Patients. Curr Cardiol Rep. 2017;19(3):24.10.1007/s11886-017-0834-128224467]Search in Google Scholar
[81. Monteiro RAC, de Freitas ML, Vianna GS, et al. Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Mol Syndromol. 2017;8(5):227-235.10.1159/000477226558252128878606]Search in Google Scholar
[82. Crauciuc GA, Tripon F, Bogliș A, Făgărășan A, Bănescu C. Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect. Rev Romana Med Lab. 2018;26(4):461-70.10.2478/rrlm-2018-0032]Search in Google Scholar
[83. Homsy J, Zaidi S, Shen Y, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015;350(6265):1262-6.10.1126/science.aac9396489014626785492]Search in Google Scholar