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Obstetrics
Diagnosis
Syndromes and Multisystem Disorders
Holt-Oram Syndrome
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. 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
                                2. 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
                                3. Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
                                4. Mao Q et al: Asymmetric cell convergence-driven fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signal. Development. ePub, 2015
                                5. Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
                                6. Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
                                7. 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
                                8. Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
                                9. 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
                                10. Fan C et al: Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. J Biol Chem. 284(38):25653-63, 2009
                                11. Rothschild SC et al: Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis. Dev Biol. 330(1):175-84, 2009
                                12. Vaienti L et al: The pollicization of the index finger in the aplasia of the thumb. Pediatr Med Chir. 31(6):258-61, 2009
                                13. Garavelli L et al: Holt-Oram syndrome associated with anomalies of the feet. Am J Med Genet A. 146A(9):1185-9, 2008
                                14. McDermott DA et al: Atrial fibrillation and other clinical manifestations of altered TBX5 dosage in typical Holt-Oram syndrome. Circ Res. 103(7):e96, 2008
                                15. Mori AD et al: Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol. 2006 Sep 15;297(2):566-86. Epub 2006 May 24. Erratum in: Dev Biol. 309(2):386, 2007
                                16. Tseng YR et al: Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene. Am J Med Genet A. 143A(9):1012-4, 2007
                                17. Plageman TF Jr et al: Microarray analysis of Tbx5-induced genes expressed in the developing heart. Dev Dyn. 235(10):2868-80, 2006
                                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. 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
                                                              2. 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
                                                              3. Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
                                                              4. Mao Q et al: Asymmetric cell convergence-driven fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signal. Development. ePub, 2015
                                                              5. Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
                                                              6. Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
                                                              7. 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
                                                              8. Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
                                                              9. 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
                                                              10. Fan C et al: Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. J Biol Chem. 284(38):25653-63, 2009
                                                              11. Rothschild SC et al: Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis. Dev Biol. 330(1):175-84, 2009
                                                              12. Vaienti L et al: The pollicization of the index finger in the aplasia of the thumb. Pediatr Med Chir. 31(6):258-61, 2009
                                                              13. Garavelli L et al: Holt-Oram syndrome associated with anomalies of the feet. Am J Med Genet A. 146A(9):1185-9, 2008
                                                              14. McDermott DA et al: Atrial fibrillation and other clinical manifestations of altered TBX5 dosage in typical Holt-Oram syndrome. Circ Res. 103(7):e96, 2008
                                                              15. Mori AD et al: Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis. Dev Biol. 2006 Sep 15;297(2):566-86. Epub 2006 May 24. Erratum in: Dev Biol. 309(2):386, 2007
                                                              16. Tseng YR et al: Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene. Am J Med Genet A. 143A(9):1012-4, 2007
                                                              17. Plageman TF Jr et al: Microarray analysis of Tbx5-induced genes expressed in the developing heart. Dev Dyn. 235(10):2868-80, 2006
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