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Holt-Oram Syndrome
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Atriodigital dysplasia
              • Heart-hand syndrome
            • Definitions

              • Heart and hand syndrome characterized by upper extremity and cardiac malformations

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  • Radiographic Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Patterson J et al: Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: expanding the cardiac phenotype associated with Holt-Oram syndrome. Am J Med Genet A. 182(7):1725-34, 2020
                                2. Xu H et al: Tbx5 inhibits hedgehog signaling in determination of digit identity. Hum Mol Genet. 29(9):1405-16, 2020
                                3. Ghosh TK et al: HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1. Sci Rep. 9(1):17992, 2019
                                4. Kumar B et al: Holt-Oram syndrome: hands are the clue to the diagnosis. Int J Appl Basic Med Res. 9(4):248-50, 2019
                                5. Vanlerberghe C et al: Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. Eur J Hum Genet. 27(3):360-8, 2019
                                6. Steimle JD et al: TBX5: A key regulator of heart development. Curr Top Dev Biol. 122:195-221, 2017
                                7. Al-Qattan MM et al: Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. Gene. 560(2):129-36, 2015
                                8. Guo Q et al: Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations. Cell Physiol Biochem. 37(3):1066-74, 2015
                                9. Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
                                10. Mao Q et al: Asymmetric cell convergence-driven fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signal. Development. 142(24):4329-39, 2015
                                11. Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
                                12. Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
                                13. Bickley SR et al: Regulatory modulation of the T-box gene Tbx5 links development, evolution, and adaptation of the sternum. Proc Natl Acad Sci U S A. 111(50):17917-22, 2014
                                14. Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
                                15. Hasson P et al: Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning. Dev Cell. 18(1):148-56, 2010
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        • Clinical Issues

                                          TERMINOLOGY

                                          • Synonyms

                                            • Atriodigital dysplasia
                                            • Heart-hand syndrome
                                          • Definitions

                                            • Heart and hand syndrome characterized by upper extremity and cardiac malformations

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • Imaging Recommendations

                                                • Radiographic Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Patterson J et al: Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: expanding the cardiac phenotype associated with Holt-Oram syndrome. Am J Med Genet A. 182(7):1725-34, 2020
                                                              2. Xu H et al: Tbx5 inhibits hedgehog signaling in determination of digit identity. Hum Mol Genet. 29(9):1405-16, 2020
                                                              3. Ghosh TK et al: HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1. Sci Rep. 9(1):17992, 2019
                                                              4. Kumar B et al: Holt-Oram syndrome: hands are the clue to the diagnosis. Int J Appl Basic Med Res. 9(4):248-50, 2019
                                                              5. Vanlerberghe C et al: Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. Eur J Hum Genet. 27(3):360-8, 2019
                                                              6. Steimle JD et al: TBX5: A key regulator of heart development. Curr Top Dev Biol. 122:195-221, 2017
                                                              7. Al-Qattan MM et al: Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. Gene. 560(2):129-36, 2015
                                                              8. Guo Q et al: Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations. Cell Physiol Biochem. 37(3):1066-74, 2015
                                                              9. Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
                                                              10. Mao Q et al: Asymmetric cell convergence-driven fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signal. Development. 142(24):4329-39, 2015
                                                              11. Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
                                                              12. Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
                                                              13. Bickley SR et al: Regulatory modulation of the T-box gene Tbx5 links development, evolution, and adaptation of the sternum. Proc Natl Acad Sci U S A. 111(50):17917-22, 2014
                                                              14. Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
                                                              15. Hasson P et al: Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning. Dev Cell. 18(1):148-56, 2010