Giusti B, Sticchi E, De Cario R, Magi A, Nistri S, Pepe G (2017) Genetic bases of bicuspid aortic valve: the contribution of traditional and high-throughput sequencing approaches on research and diagnosis. Front Physiol 8:612. https://doi.org/10.3389/fphys.2017.00612

Article  PubMed  PubMed Central  Google Scholar 

Tessler I, Albuisson J, Goudot G, Carmi S, Shpitzen S, Messas E, Gilon D, Durst R (2021) Bicuspid aortic valve: genetic and clinical insights. AORTA 9:139–146. https://doi.org/10.1055/s-0041-1730294

Article  PubMed  PubMed Central  Google Scholar 

Andreassi MG, Della Corte A (2016) Genetics of bicuspid aortic valve aortopathy. Curr Opin Cardiol 31:585–592. https://doi.org/10.1097/HCO.0000000000000328

Article  PubMed  Google Scholar 

Huntington K, Hunter AG, Chan KL (1997) A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 30:1809–1812. https://doi.org/10.1016/s0735-1097(97)00372-0

Article  CAS  PubMed  Google Scholar 

Spaziani G, Girolami F, Arcieri L, Calabri GB, Porcedda G, Di Filippo C, Surace FC, Pozzi M, Favilli S (2022) Bicuspid aortic valve in children and adolescents: a comprehensive review. Diagnostics (Basel) 12:1751. https://doi.org/10.3390/diagnostics12071751

Article  PubMed  Google Scholar 

Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW (2004) Bicuspid aortic valve is heritable. J Am Coll Cardiol 44:138–143. https://doi.org/10.1016/j.jacc.2004.03.050

Article  PubMed  Google Scholar 

Musfee FI, Guo D, Pinard AC, Bamshad MJ, Milewicz DM, Prakash SK (2020) Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. Mol Genet Genom Med 8:e1406. https://doi.org/10.1002/mgg3.1406

Article  CAS  Google Scholar 

Qu XK, Qiu XB, Yuan F, Wang J, Zhao CM, Liu XY, Zhang XL, Li RG, Xu YJ, Hou XM, Fang WY, Liu X, Yang YQ (2014) A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Am J Cardiol 114:1891–1895. https://doi.org/10.1016/j.amjcard.2014.09.028

Article  CAS  PubMed  Google Scholar 

Balistreri CR, Forte M, Greco E, Paneni F, Cavarretta E, Frati G, Sciarretta S (2019) An overview of the molecular mechanisms underlying development and progression of bicuspid aortic valve disease. J Mol Cell Cardiol 132:146–153. https://doi.org/10.1016/j.yjmcc.2019.05.013

Article  CAS  PubMed  Google Scholar 

Pan S, Lai H, Shen Y, Breeze C, Beck S, Hong T, Wang C, Teschendorff AE (2017) DNA methylome analysis reveals distinct epigenetic patterns of ascending aortic dissection and bicuspid aortic valve. Cardiovasc Res 113:692–704. https://doi.org/10.1093/cvr/cvx050

Article  CAS  PubMed  Google Scholar 

Martínez-Micaelo N, Beltrán-Debón R, Baiges I, Faiges M, Alegret JM (2017) Specific circulating microRNA signature of bicuspid aortic valve disease. J Transl Med 15:76. https://doi.org/10.1186/s12967-017-1176-x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dituri F, Cossu C, Mancarella S, Giannelli G (2019) The interactivity between TGFβ and BMP signaling in organogenesis, fibrosis, and cancer. Cells 8:1130. https://doi.org/10.3390/cells8101130

Article  CAS  PubMed  PubMed Central  Google Scholar 

Garside VC, Chang AC, Karsan A, Hoodless PA (2013) Co-ordinating notch, BMP, and TGF-β signaling during heart valve development. Cell Mol Life Sci 70:2899–2917. https://doi.org/10.1007/s00018-012-1197-9

Article  CAS  PubMed  Google Scholar 

Hall BE, Wankhade UD, Konkel JE, Cherukuri K, Nagineni CN, Flanders KC, Arany PR, Chen W, Rane SG, Kulkarni AB (2013) Transforming growth factor-β3 (TGF-β3) knock-in ameliorates inflammation due to TGF-β1 deficiency while promoting glucose tolerance. J Biol Chem 288:32074–32092. https://doi.org/10.1074/jbc.M113.480764

Article  CAS  PubMed  PubMed Central  Google Scholar 

Blobe GC, Schiemann WP, Lodish HF (2000) Role of transforming growth factor beta in human disease. N Engl J Med 342:1350–1358. https://doi.org/10.1056/NEJM200005043421807

Article  CAS  PubMed  Google Scholar 

Saxena R, Chawla YK, Verma I, Kaur J (2014) Effect of IL-12B, IL-2, TGF-β1, and IL-4 polymorphism and expression on hepatitis B progression. J Interf Cytokine Res 34:117–128. https://doi.org/10.1089/jir.2013.0043

Article  CAS  Google Scholar 

Yassine NM, Shahram JT, Body SC (2017) Pathogenic mechanisms of bicuspid aortic valve aortopathy. Front Physiol 8:687. https://doi.org/10.3389/fphys.2017.00687

Article  PubMed  PubMed Central  Google Scholar 

Guzzardi DG, Barker AJ, van Ooij P et al (2015) Valve-Related hemodynamics mediate human bicuspid aortopathy: insights from wall shear stress mapping. J Am Coll Cardiol 66:892–900. https://doi.org/10.1016/j.jacc.2015.06.1310

Article  PubMed  PubMed Central  Google Scholar 

Balistreri CR, Pisano C, Candore G, Maresi E, Codispoti M, Ruvolo G (2013) Focus on the unique mechanisms involved in thoracic aortic aneurysm formation in bicuspid aortic valve versus tricuspid aortic valve patients: clinical implications of a pilot study. Eur J Cardiothorac Surg 43:e180-186. https://doi.org/10.1093/ejcts/ezs630

Article  PubMed  Google Scholar 

Jones JA, Spinale FG, Ikonomidis JS (2009) Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis. J Vasc Res 46:119–137. https://doi.org/10.1159/000151766

Article  CAS  PubMed  Google Scholar 

Nataatmadja M, West J, Prabowo S, West M (2013) Angiotensin II receptor antagonism reduces transforming growth factor beta and smad signaling in thoracic aortic aneurysm. Ochsner J 13:42–48

PubMed  PubMed Central  Google Scholar 

Grewal N, Dolmaci O, Klautz A, Legue J, Driessen A, Klautz R, Poelmann R (2023) The role of transforming growth factor beta in bicuspid aortic valve aortopathy. Indian J Thorac Cardiovasc Surg 39:270–279. https://doi.org/10.1007/s12055-023-01513-8

Article  PubMed  PubMed Central  Google Scholar 

Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, Robinson PN, Berger J, Mir TS, Zeller T, Blankenberg S, von Kodolitsch Y, Goldmann B (2014) Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes. Clin Cardiol 37:672–679. https://doi.org/10.1002/clc.22320

Article  PubMed  PubMed Central  Google Scholar 

Rueda-Martínez C, Lamas O, Carrasco-Chinchilla F, Robledo-Carmona J, Porras C, Sánchez-Espín G, Navarro MJ, Fernández B (2017) Increased blood levels of transforming growth factor β in patients with aortic dilatation. Interact Cardiovasc Thorac Surg 25:571–574. https://doi.org/10.1093/icvts/ivx153

Article  PubMed  Google Scholar 

Forte A, Bancone C, Cobellis G, Buonocore M, Santarpino G, Fischlein TJM, Cipollaro M, De Feo M, Della Corte A (2017) A possible early biomarker for bicuspid aortopathy: circulating transforming growth factor β-1 to soluble endoglin ratio. Circ Res 120:1800–1811. https://doi.org/10.1161/CIRCRESAHA.117.310833

Article  CAS  PubMed  Google Scholar 

Ignatieva E, Kostina D, Irtyuga O, Uspensky V, Golovkin A, Gavriliuk N, Moiseeva O, Kostareva A, Malashicheva A (2017) Mechanisms of smooth muscle cell differentiation are distinctly altered in thoracic aortic aneurysms associated with bicuspid or tricuspid aortic valves. Front Physiol 8:536. https://doi.org/10.3389/fphys.2017.00536

Article  PubMed  PubMed Central  Google Scholar 

Paloschi V, Gådin JR, Khan S, Björck HM, Du L, Maleki S, Roy J, Lindeman JH, Mohamed SA, Tsuda T, Franco-Cereceda A, Eriksson P (2015) Aneurysm development in patients with a bicuspid aortic valve is not associated with transforming growth factor-β activation. Arterioscler Thromb Vasc Biol 35:973–980. https://doi.org/10.1161/ATVBAHA.114.304996

Article  CAS  PubMed  Google Scholar 

Bons LR, Geenen LW, van den Hoven AT, Dik WA, van den Bosch AE, Duijnhouwer AL, Siebelink HJ, Budde RPJ, Boersma E, Wessels MW, van de Laar IMBH, DeRuiter MC, Goumans MJ, Loeys BL, Roos-Hesselink JW (2020) Blood biomarkers in patients with bicuspid aortic valve disease. J Cardiol 76:287–294.