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Tetralogy of Fallot with Holt–Oram syndrome: case report and review

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References

  1. Basson CT, Cowley GS, Solomon SD (1994) The clinical and genetic spectrum of the Holt–Oram Syndrome (hand-heart syndrome). N Engl J Med 330:885–891

    Article  CAS  PubMed  Google Scholar 

  2. Barnett P, Postma AV (2014) Molecular genetics of Holt–Oram Syndrome. eLS. doi:10.1002/9780470015902.a0024329

    Google Scholar 

  3. Baban A, Postama AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, Boogerd CJ, Dallapiccola B, Digilio MC, Ravazzolo R, Pongiglione G (2014) Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. Am J Med Genet Part A 164A:3100–3107

    Article  PubMed  Google Scholar 

  4. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (1997) Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt–Oram syndrome. Nat Genet 15:30–35

    Article  CAS  PubMed  Google Scholar 

  5. Holt M, Oram S (1960) Familial heart disease with skeletal malformations. Br Heart J 22:236–242 [PUBMED]

  6. James MA, Mc Carroll HR Jr, Manske PR (1996) Characteristics of patients with hypoplastic thumbs. J Hand Surg Am 21:104–113

  7. Basson CT, Solomon SD, Weissman B et al (1995) Genetic heterogeneity of heart-hand syndromes. Circulation 91:1326–1329

    Article  CAS  PubMed  Google Scholar 

  8. Sletten LJ, Pierpont ME (1996) Variation in severity of cardiac disease in Holt–Oram syndrome. Am J Med Genet 65:128–132

    Article  CAS  PubMed  Google Scholar 

  9. Thai S, Boyella R, Arsanjani R, Thai H, Juneman E, Movahed MR et al (2011) Unusual combination of Holt–Oram Syndrome and persistent left superior vena cava. Congenit Heart Dis 7:E46–E49

    PubMed  Google Scholar 

  10. Baban A, Pitto L, Pulignani S, Cresci M, Mariani L, Gambacciani C, Digilio MC, Pongiglione G, Albanese S (2014) Holt–Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation. Am J Med Genet Part A 164A:1419–1424

    Article  PubMed  Google Scholar 

  11. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID (1996) Holt–Oram syndrome: a clinical genetic study. J Med Genet. 33:300–307 (PMC free article PubMed)

  12. Chryssostomidis G et al (2014) Diversity of congenital cardiac defects and skeletal deformities associated with the Holt–Oram syndrome. Int J Surg Case Rep 5(7):389–392. doi:10.1016/j.Ijscr.04.034

    Article  PubMed Central  PubMed  Google Scholar 

  13. Debeer P, Race V, Gewillig M et al (2007) Novel TBX5 mutations in patients with Holt–Oram syndrome. Clini Orthop Relat Res 462:20–26

    Article  Google Scholar 

  14. McDermott DA, Bressan MC, He J et al (2005) TBX5 genetic testing validates strict clinical criteria for Holt–Oram syndrome. Pediatr Res 58(5):981–986

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

This research received no specific grant from any funding agency, commercial or not-for-profit sectors.

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Authors and Affiliations

  1. Department of cardiology, Lokmanya Tilak Municipal Medical College and Hospital, Sion, Mumbai, 400022, India

    Abhay Tidake, Pranil Gangurde, Zohaib Shaikh & Ajay Mahajan

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  1. Abhay Tidake
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  2. Pranil Gangurde
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  3. Zohaib Shaikh
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  4. Ajay Mahajan
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Correspondence to Abhay Tidake.

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Tidake, A., Gangurde, P., Shaikh, Z. et al. Tetralogy of Fallot with Holt–Oram syndrome: case report and review. Clin Res Cardiol 104, 790–793 (2015). https://doi.org/10.1007/s00392-015-0858-8

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  • DOI: https://doi.org/10.1007/s00392-015-0858-8

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