{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,9]],"date-time":"2026-08-09T19:41:13Z","timestamp":1786304473102,"version":"build-2736575974"},"reference-count":66,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Thanks to a better knowledge of the genetic causes of many diseases and an improvement in genetic testing techniques, genetics has gained an important role in the multidisciplinary approach to diagnosis and management of congenital heart disease and aortic pathology. With the introduction of strategies for precision medicine, it is expected that this will only increase further in the future. Because basic knowledge of the indications, the opportunities as well as the limitations of genetic testing is essential for correct application in clinical practice, this consensus document aims to give guidance to care-providers involved in the follow-up of adults with congenital heart defects and\/or with hereditary aortic disease. This paper is the result of a collaboration between the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. Throughout the document, the importance of correct counseling in the process of genetic testing is emphasized, indications and timing for genetic studies are discussed as well as the technical modalities of genetic testing. Finally, the most important genetic diseases in adult congenital heart disease and aortic pathology are also discussed.<\/jats:p>","DOI":"10.1177\/2047487319854552","type":"journal-article","created":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T08:26:00Z","timestamp":1560241560000},"page":"1423-1435","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":57,"title":["Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics"],"prefix":"10.1093","volume":"27","author":[{"given":"Julie","family":"De Backer","sequence":"first","affiliation":[{"name":"Department of Cardiology and Center for Medical Genetics , Ghent University Hospital, Belgium"},{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN) , HTAD Rare Disease Working Group"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Bondue","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Universit\u00e9 Libre de Bruxelles, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner","family":"Budts","sequence":"additional","affiliation":[{"name":"Congenital and Structural Cardiology , University Hospitals Leuven, Belgium"},{"name":"Department of Cardiovascular Sciences , KU Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Evangelista","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN) , HTAD Rare Disease Working Group"},{"name":"Servei de Cardiologia , Hospital Universitari Vall d'Hebron, VHIR. CIBER-CV, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pastora","family":"Gallego","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Hospital Universitario Virgen del Rocio, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Jondeau","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN) , HTAD Rare Disease Working Group"},{"name":"Centre National Maladie Rare pour le Syndrome de Marfan et Apparent\u00e9s , H\u00f4pital Bichat, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN) , HTAD Rare Disease Working Group"},{"name":"Center of Medical Genetics , University of Antwerp and Antwerp University Hospital, Belgium"},{"name":"Department of Human Genetics , Radboud University Medical Center, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L","family":"Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Department of Cardiology , Hospital Universitario Virgen del Rocio, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Teixido-Tura","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN) , HTAD Rare Disease Working Group"},{"name":"Servei de Cardiologia , Hospital Universitari Vall d'Hebron, VHIR. CIBER-CV, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"van de Laar","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN) , HTAD Rare Disease Working Group"},{"name":"Department of Clinical Genetics , Erasmus MC, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Verstraeten","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics , University of Antwerp and Antwerp University Hospital, Belgium"},{"name":"Department of Human Genetics , Radboud University Medical Center, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolien","family":"Roos Hesselink","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN) , HTAD Rare Disease Working Group"},{"name":"Department of Cardiology , Erasmus MC, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,9,1]]},"reference":[{"issue":"12","key":"2026080914525998000_bibr1-2047487319854552","doi-asserted-by":"crossref","first-page":"e81","DOI":"10.1016\/j.jacc.2018.08.1029","article-title":"2018 AHA\/ACC guideline for the management of adults with congenital heart disease: A report of the American College of Cardiology\/American Heart Association Task Force on Clinical Practice Guidelines","volume":"73","author":"Stout","year":"2018","journal-title":"J Am Coll Cardiol"},{"key":"2026080914525998000_bibr2-2047487319854552","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1161\/CIRCULATIONAHA.113.002453","article-title":"Increased prevalence of congenital heart defects in monozygotic and dizygotic twins","volume":"128","author":"Herskind","year":"2013","journal-title":"Circulation"},{"key":"2026080914525998000_bibr3-2047487319854552","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1161\/CIRCULATIONAHA.109.857987","article-title":"Recurrence of congenital heart defects in families","volume":"120","author":"\u00d8yen","year":"2009","journal-title":"Circulation"},{"key":"2026080914525998000_bibr4-2047487319854552","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1161\/CIRCRESAHA.116.309140","article-title":"Genetics and genomics of congenital heart disease","volume":"120","author":"Zaidi","year":"2017","journal-title":"Circ Res"},{"key":"2026080914525998000_bibr5-2047487319854552","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1007\/s00246-011-0034-5","article-title":"The contribution of chromosomal abnormalities to congenital heart defects: A population-based study","volume":"32","author":"Hartman","year":"2011","journal-title":"Pediatr Cardiol"},{"key":"2026080914525998000_bibr6-2047487319854552","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2012.08.003","article-title":"Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease","volume":"91","author":"Soemedi","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2026080914525998000_bibr7-2047487319854552","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1159\/000331272","article-title":"Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects","volume":"135","author":"Breckpot","year":"2011","journal-title":"Cytogenet Genome Res"},{"key":"2026080914525998000_bibr8-2047487319854552","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.35973","article-title":"The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients\u2019 perspective","author":"van Engelen","year":"2013","journal-title":"Am J Med Genet A"},{"key":"2026080914525998000_bibr9-2047487319854552","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1161\/CIRCULATIONAHA.106.183056","article-title":"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","volume":"115","author":"Pierpont","year":"2007","journal-title":"Circulation"},{"key":"2026080914525998000_bibr10-2047487319854552","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.hfc.2013.09.017","article-title":"Heart failure in congenital heart disease: A confluence of acquired and congenital","volume":"10","author":"Fahed","year":"2014","journal-title":"Heart Fail Clin"},{"key":"2026080914525998000_bibr11-2047487319854552","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1161\/CIRCGENETICS.115.001070","article-title":"Recessive MYH6 mutations in hypoplastic left heart with reduced ejection fraction","volume":"8","author":"Theis","year":"2015","journal-title":"Circ Cardiovasc Genet"},{"key":"2026080914525998000_bibr12-2047487319854552","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1126\/science.281.5373.108","article-title":"Congenital heart disease caused by mutations in the transcription factor NKX2-5","volume":"281","author":"Schott","year":"1998","journal-title":"Science"},{"key":"2026080914525998000_bibr13-2047487319854552","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1126\/science.aac9396","article-title":"De\u00a0novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies","volume":"350","author":"Homsy","year":"2015","journal-title":"Science"},{"key":"2026080914525998000_bibr14-2047487319854552","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.devcel.2010.01.008","article-title":"Characterization and in\u00a0vivo pharmacological rescue of a Wnt2-Gata6 pathway required for cardiac inflow tract development","volume":"18","author":"Tian","year":"2010","journal-title":"Dev Cell"},{"key":"2026080914525998000_bibr15-2047487319854552","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.jtcvs.2012.12.028","article-title":"22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot","volume":"146","author":"Mercer-Rosa","year":"2013","journal-title":"J Thorac Cardiovasc Surg"},{"key":"2026080914525998000_bibr16-2047487319854552","first-page":"923","article-title":"Patterns of recurrence of congenital heart disease: An analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography","volume":"42","author":"Gill","year":"2003","journal-title":"JAC"},{"key":"2026080914525998000_bibr17-2047487319854552","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic basis for congenital heart disease: Revisited: A scientific statement From the American Heart Association","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"key":"2026080914525998000_bibr18-2047487319854552","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ppedcard.2012.05.004","article-title":"The role of the geneticist and genetic counselor in an ACHD clinic","volume":"34","author":"Parrott","year":"2012","journal-title":"Prog Pediatr Cardiol"},{"key":"2026080914525998000_bibr19-2047487319854552","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s11886-011-0188-z","article-title":"Genetic counseling in the adult with congenital heart disease: What is the role?","volume":"13","author":"Burchill","year":"2011","journal-title":"Curr Cardiol Rep"},{"key":"2026080914525998000_bibr20-2047487319854552","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1055\/s-2005-923391","article-title":"Preimplantation genetic diagnosis and screening","volume":"23","author":"Kearns","year":"2005","journal-title":"Semin Reprod Med"},{"key":"2026080914525998000_bibr21-2047487319854552"},{"key":"2026080914525998000_bibr22-2047487319854552","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1186\/s12864-017-3658-x","article-title":"Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans","volume":"18","author":"Haraksingh","year":"2017","journal-title":"BMC Genomics"},{"key":"2026080914525998000_bibr23-2047487319854552","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"2026080914525998000_bibr24-2047487319854552","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/gim.2013.129","article-title":"ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013","volume":"15","author":"South","year":"2013","journal-title":"Genet Med"},{"key":"2026080914525998000_bibr25-2047487319854552","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1161\/CIRCGENETICS.115.001324","article-title":"Utilization of whole exome sequencing to identify causative mutations in familial congenital heart disease","volume":"9","author":"LaHaye","year":"2016","journal-title":"Circ Cardiovasc Genet"},{"key":"2026080914525998000_bibr26-2047487319854552","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1038\/ng.3627","article-title":"Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing","volume":"48","author":"Sifrim","year":"2016","journal-title":"Nat Genet"},{"key":"2026080914525998000_bibr27-2047487319854552","doi-asserted-by":"crossref","first-page":"e001978","DOI":"10.1161\/CIRCGEN.117.001978","article-title":"A screening approach to identify clinically actionable variants causing congenital heart disease in exome data","volume":"11","author":"Szot","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"2026080914525998000_bibr28-2047487319854552","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature12141","article-title":"De\u00a0novo mutations in histone-modifying genes in congenital heart disease","volume":"498","author":"Zaidi","year":"2013","journal-title":"Nature"},{"key":"2026080914525998000_bibr29-2047487319854552","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1038\/ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","volume":"49","author":"Jin","year":"2017","journal-title":"Nat Genet"},{"key":"2026080914525998000_bibr30-2047487319854552","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/mgg3.357","article-title":"Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital","volume":"6","author":"Hauser","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"2026080914525998000_bibr31-2047487319854552","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.jacc.2018.04.089","article-title":"Clinical validity of genes for heritable thoracic aortic aneurysm and dissection","volume":"72","author":"Renard","year":"2018","journal-title":"J Am Coll Cardiol"},{"key":"2026080914525998000_bibr32-2047487319854552","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1038\/s41569-018-0086-9","article-title":"The deployment of cell lineages that form the mammalian heart","volume":"15","author":"Meilhac","year":"2018","journal-title":"Nat Rev Cardiol"},{"key":"2026080914525998000_bibr33-2047487319854552","doi-asserted-by":"crossref","first-page":"1922","DOI":"10.1126\/science.1132292","article-title":"Gene regulatory networks in the evolution and development of the heart","volume":"313","author":"Olson","year":"2006","journal-title":"Science"},{"issue":"9","key":"2026080914525998000_bibr34-2047487319854552","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1136\/heartjnl-2018-313716","article-title":"Aortic dilatation and outcome in women with Turner syndrome","volume":"105","author":"Duijnhouwer","year":"2018","journal-title":"Heart"},{"key":"2026080914525998000_bibr35-2047487319854552","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1161\/CIRCULATIONAHA.111.088633","article-title":"Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: Report of the International Turner Syndrome Aortic Dissection Registry","volume":"126","author":"Carlson","year":"2012","journal-title":"Circulation"},{"key":"2026080914525998000_bibr36-2047487319854552","doi-asserted-by":"crossref","first-page":"e000048","DOI":"10.1161\/HCG.0000000000000048","article-title":"Cardiovascular Health in Turner Syndrome: A scientific statement from the American Heart Association","volume":"11","author":"Silberbach","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"2026080914525998000_bibr37-2047487319854552","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1097\/HCO.0000000000000336","article-title":"Aortic disease and pregnancy","volume":"31","author":"Bons","year":"2016","journal-title":"Curr Opin Cardiol"},{"key":"2026080914525998000_bibr38-2047487319854552","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"2026080914525998000_bibr39-2047487319854552","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1002\/ajmg.a.40504","article-title":"Molecular genetics of 22q11.2 deletion syndrome","volume":"176","author":"Morrow","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2026080914525998000_bibr40-2047487319854552","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/bs.ctdb.2016.08.002","article-title":"Tbx1: Transcriptional and developmental functions","volume":"122","author":"Baldini","year":"2017","journal-title":"Curr Top Dev Biol"},{"key":"2026080914525998000_bibr41-2047487319854552","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1161\/CIRCGENETICS.114.000819","article-title":"22q11.2 Deletion status and disease burden in children and adolescents with tetralogy of Fallot","volume":"8","author":"Mercer-Rosa","year":"2015","journal-title":"Circ Cardiovasc Genet"},{"key":"2026080914525998000_bibr42-2047487319854552","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1136\/hrt.2009.182642","article-title":"22q11.2 Deletion syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia","volume":"96","author":"van Engelen","year":"2010","journal-title":"Heart"},{"key":"2026080914525998000_bibr43-2047487319854552","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1002\/ajmg.a.38672","article-title":"Williams-Beuren syndrome in diverse populations","volume":"176","author":"Kruszka","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2026080914525998000_bibr44-2047487319854552"},{"key":"2026080914525998000_bibr45-2047487319854552","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1002\/humu.21345","article-title":"NKX2-5: An update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)","volume":"31","author":"Reamon-Buettner","year":"2010","journal-title":"Hum Mutat"},{"key":"2026080914525998000_bibr46-2047487319854552","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1101\/sqb.2002.67.107","article-title":"Homeodomain factor Nkx2-5 in heart development and disease","volume":"67","author":"Harvey","year":"2002","journal-title":"Cold Spring Harb Symp Quant Biol"},{"key":"2026080914525998000_bibr47-2047487319854552","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/bs.ctdb.2016.08.008","article-title":"TBX5: A key regulator of heart development","volume":"122","author":"Steimle","year":"2017","journal-title":"Curr Top Dev Biol"},{"key":"2026080914525998000_bibr48-2047487319854552","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/nature01827","article-title":"GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5","volume":"424","author":"Garg","year":"2003","journal-title":"Nature"},{"key":"2026080914525998000_bibr49-2047487319854552","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0140-6736(12)61023-X","article-title":"Noonan syndrome","volume":"381","author":"Roberts","year":"2013","journal-title":"Lancet"},{"key":"2026080914525998000_bibr50-2047487319854552","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1038\/s41569-018-0100-2","article-title":"Notch and interacting signalling pathways in cardiac development, disease, and regeneration","volume":"15","author":"MacGrogan","year":"2018","journal-title":"Nat Rev Cardiol"},{"key":"2026080914525998000_bibr51-2047487319854552","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/ng0797-243","article-title":"Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1","volume":"16","author":"Li","year":"1997","journal-title":"Nat Genet"},{"key":"2026080914525998000_bibr52-2047487319854552","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ng0797-235","article-title":"Mutations in the human Jagged1 gene are responsible for Alagille syndrome","volume":"16","author":"Oda","year":"1997","journal-title":"Nat Genet"},{"key":"2026080914525998000_bibr53-2047487319854552","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nature03940","article-title":"Mutations in NOTCH1 cause aortic valve disease","volume":"437","author":"Garg","year":"2005","journal-title":"Nature"},{"key":"2026080914525998000_bibr54-2047487319854552","doi-asserted-by":"crossref","first-page":"e1006335","DOI":"10.1371\/journal.pgen.1006335","article-title":"Family based whole exome sequencing reveals the multifaceted role of notch signaling in congenital heart disease","volume":"12","author":"Preuss","year":"2016","journal-title":"PLoS Genet"},{"key":"2026080914525998000_bibr55-2047487319854552","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1161\/CIRCRESAHA.118.313250","article-title":"Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot","volume":"124","author":"Page","year":"2019","journal-title":"Circ Res"},{"key":"2026080914525998000_bibr56-2047487319854552","doi-asserted-by":"crossref","first-page":"3651","DOI":"10.1093\/hmg\/ddy241","article-title":"Dissecting KMT2D missense mutations in Kabuki syndrome patients","volume":"27","author":"Cocciadiferro","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2026080914525998000_bibr57-2047487319854552","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1097\/HCO.0000000000000023","article-title":"Heritable thoracic aortic disorders","volume":"29","author":"Pyeritz","year":"2014","journal-title":"Curr Opin Cardiol"},{"key":"2026080914525998000_bibr58-2047487319854552","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.athoracsur.2006.04.098","article-title":"Familial thoracic aortic aneurysms and dissections\u2013incidence, modes of inheritance, and phenotypic patterns","volume":"82","author":"Albornoz","year":"2006","journal-title":"Ann Thorac Surg"},{"key":"2026080914525998000_bibr59-2047487319854552","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1161\/CIRCGENETICS.114.000943","article-title":"Aortic disease presentation and outcome associated with ACTA2 mutations","volume":"8","author":"Regalado","year":"2015","journal-title":"Circ Cardiovasc Genet"},{"key":"2026080914525998000_bibr60-2047487319854552","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1161\/CIRCGENETICS.116.001485","article-title":"Montalcino Aortic Consortium. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)","volume":"9","author":"Jondeau","year":"2016","journal-title":"Circ Cardiovasc Genet"},{"issue":"8","key":"2026080914525998000_bibr61-2047487319854552","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1136\/heartjnl-2015-308535","article-title":"Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome","volume":"102","author":"Teixido-Tura","year":"2016","journal-title":"Heart"},{"key":"2026080914525998000_bibr62-2047487319854552","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ajhg.2018.05.012","article-title":"Variants of unknown significance in genes associated with heritable thoracic aortic disease can be low penetrant \u2018risk variants\u2019","volume":"103","author":"Kwartler","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2026080914525998000_bibr63-2047487319854552","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1136\/heartjnl-2017-311560","article-title":"Anatomical and clinical predictors of valve dysfunction and aortic dilation in bicuspid aortic valve disease","volume":"104","author":"Evangelista","year":"2018","journal-title":"Heart"},{"issue":"8","key":"2026080914525998000_bibr64-2047487319854552","first-page":"603","article-title":"Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives","volume":"105","author":"Galian-Gay","year":"2019","journal-title":"Heart"},{"key":"2026080914525998000_bibr65-2047487319854552","first-page":"13","article-title":"Candidate gene resequencing in a large bicuspid aortic valve-associated thoracic aortic aneurysm cohort: SMAD6 as an important contributor","volume":"8","author":"Gillis","year":"2017","journal-title":"Front Physiol"},{"key":"2026080914525998000_bibr66-2047487319854552","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/s41588-018-0265-y","article-title":"ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm","volume":"51","author":"Gould","year":"2019","journal-title":"Nat Genet"}],"container-title":["European Journal of Preventive Cardiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2047487319854552","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2047487319854552","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/eurjpc\/article-pdf\/27\/13\/1423\/34339688\/eurjpc1423.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eurjpc\/article-pdf\/27\/13\/1423\/34339688\/eurjpc1423.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,9]],"date-time":"2026-08-09T18:53:08Z","timestamp":1786301588000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eurjpc\/article\/27\/13\/1423\/5950942"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,1]]},"references-count":66,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2020,9,1]]},"published-print":{"date-parts":[[2020,9,1]]}},"URL":"https:\/\/doi.org\/10.1177\/2047487319854552","relation":{},"ISSN":["2047-4881","2047-4873"],"issn-type":[{"value":"2047-4881","type":"electronic"},{"value":"2047-4873","type":"print"}],"subject":[],"published-other":{"date-parts":[[2020,9,1]]},"published":{"date-parts":[[2020,9,1]]}}}