Multiple heart malformations in a patient with Holt—Oram syndrome ; Множественные мальформации сердца у пациента с синдромом Холта—Орама

Συγγραφείς: I. A. Soynov, D. A. Dultceva, A. V. Leykekhman, A. N. Arkhipov, И. А. Сойнов, Д. А. Дульцева, А. В. Лейкехман, А. Н. Архипов

Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 65, № 5 (2020); 83-86 ; Российский вестник перинатологии и педиатрии; Том 65, № 5 (2020); 83-86 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2020-65-5

Θεματικοί όροι: оперативное лечение, Holt—Oram syndrome, atrial septal defect, multiple ventricular septal defects, aortic valve stenosis, left thumb hypoplasia, TBOX5gene, surgical treatment, синдром Холта—Орама, дефект межпредсердной перегородки, множественные дефекты межжелудочковой перегородки, стеноз аортального клапана, гипоплазия большого пальца левой кисти, ген Tbox5

Περιγραφή αρχείου: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1241/986; Vanlerberghe C., Jourdain A.S., Ghoumid J., Frenois F., Mezel A., Vaksmann G. et al. Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. Eur J Hum Genet 2019; 27(3): 360-368. DOI:10.1038/s41431-018-0303-3; Van der Linde D, Konings E.E., Slager M.A., Witsenburg M., Helbing W.A. et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 2011; 58: 2241-2247. DOI:10.1016/j.jacc.2011.08.025; Naiche L.A., Harrelson Z., Kelly R.G., Papaioannou V.E. T-box genes in vertebrate development. Annu Rev Genet 2005; 39: 219-239. DOI:10.1146/annurev.genet.39.073003.105925; Barisic I., Boban L., Greenlees R, Garne E., Wellesley D., Calzolari E. et al. Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis 2014; 9: 156. DOI:10.1186/s13023-014-0156-y; Arkoumanis P.T., Gklavas A., Karageorgou M., Gourzi P., Mantzaris G., Pantou M., Papaconstantinou I. Holt-Oram Syndrome in a Patient with Crohn’s Disease: a Rare Case Report and Literature Review. Med Arch 2018; 72(4): 292-294. DOI:10.5455/medarh.2018.72.292-294; Borozdin W., Bravo Ferrer Acosta A.M., Bamshad M.J., Bot-zenhart E.M., Froster U.G., Lemke J. et al. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat 2006; 27: 975-976. DOI:10.1002/humu.9449; Heinritz W., Moschik A., Kujat A., Spranger S., Heilbron-ner H., Demuth S. et al. Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. Heart Br Card Soc 2005; 91: 383-384. DOI:10.1136/hrt.2004.036855; Spiridon M.R., Petris A.O., Gorduza E.V., Petras A.S., Popescu R., Caba L. Holt-Oram Syndrome With Multiple Cardiac Abnormalities. Cardiol Res 2018; 9(5): 324-329. DOI:10.14740/cr767w; Newbury-Ecob R.A., Leanage R., Raeburn J.A., Young I.D. Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996; 33: 300-307. DOI:10.1136/jmg.33.4.300; Li Q.Y., Newbury-Ecob R.A., Terrett J.A., Wilson D.I., Curtis A.R., Yi C.H. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 1997; 15: 21-29. DOI:10.1038/ng0197-21; Greulich F., Rudat C., Kispert A. Mechanisms of T-box gene function in the developing heart. Cardiovasc Res 2011; 91: 212-222. DOI:10.1093/cvr/cvr112; Hasson P., DeLaurier A., Bennett M., Grigorieva E., Naiche L.A., Papaioannou V.E. et al. Tbx4 and Tbx5 acting in connective tissue are required for limb muscle and tendon patterning. Dev Cell 2010; 18: 148-56. DOI:10.1016/j.dev-cel.2009.11.013; Singh G.K. Congenital Aortic Valve Stenosis. Children (Basel) 2019; 6(5). DOI:10.3390/children6050069; Kulyabin Y.Y., Soynov I.A., Zubritskiy A.V., Voitov A.V., Nichay N.R., Gorbatykh Y.N. et al. Does mitral valve repair matter in infants with ventricular septal defect combined with mitral regurgitation? Interact Cardiovasc Thorac Surg 2018; 26(1): 106-111. DOI:10.1093/icvts/ivx231; Voitov A., Omelchenko A., Gorbatykh Y., Zaitsev G., Arkhipov A., Soynov I. et al. Outcomes of perventricular off-pump versus conventional closure of ventricular septal defects: a prospective randomized study. Eur J Cardiothorac Surg 2017; 51(5): 980-986. DOI:10.1093/ejcts/ezx002

Διαθεσιμότητα: https://www.ped-perinatology.ru/jour/article/view/1241
https://doi.org/10.21508/1027-4065-2020-65-5-83-86

Multiple heart malformations in a patient with Holt—Oram syndrome

Συγγραφείς: I. A. Soynov, D. A. Dultceva, A. V. Leykekhman, A. N. Arkhipov

Πηγή: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 5, Pp 83-86 (2020)

Θεματικοί όροι: дети, синдром холта—орама, дефект межпредсердной перегородки, множественные дефекты межжелудочковой перегородки, стеноз аортального клапана, гипоплазия большого пальца левой кисти, ген tbox5, оперативное лечение, Pediatrics, RJ1-570

Relation: https://www.ped-perinatology.ru/jour/article/view/1241; https://doaj.org/toc/1027-4065; https://doaj.org/toc/2500-2228; https://doaj.org/article/6600b9f1eaaf443597da193a47fec66e

Διαθεσιμότητα: https://doi.org/10.21508/1027-4065-2020-65-5-83-86
https://doaj.org/article/6600b9f1eaaf443597da193a47fec66e