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
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
Xu H et al: Tbx5 inhibits hedgehog signaling in determination of digit identity. Hum Mol Genet. 29(9):1405-16, 2020
Ghosh TK et al: HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1. Sci Rep. 9(1):17992, 2019
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
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
Steimle JD et al: TBX5: A key regulator of heart development. Curr Top Dev Biol. 122:195-221, 2017
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
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
Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
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
Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
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
Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
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
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
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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
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
Xu H et al: Tbx5 inhibits hedgehog signaling in determination of digit identity. Hum Mol Genet. 29(9):1405-16, 2020
Ghosh TK et al: HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1. Sci Rep. 9(1):17992, 2019
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
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
Steimle JD et al: TBX5: A key regulator of heart development. Curr Top Dev Biol. 122:195-221, 2017
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
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
Jhang WK et al: Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations. Cardiol Young. 25(6):1093-8, 2015
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
Wall LB et al: Defining features of the upper extremity in Holt-Oram syndrome. J Hand Surg Am. 40(9):1764-8, 2015
Barisic I et al: Holt Oram syndrome: a registry-based study in Europe. Orphanet J Rare Dis. 9:156, 2014
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
Boogerd CJ et al: Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res. 88(1):130-9, 2010
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
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