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Clinical Research in Cardiology
Published in: Clinical Research in Cardiology 9/2015

01-09-2015 | Letter to the Editors

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

Authors: Abhay Tidake, Pranil Gangurde, Zohaib Shaikh, Ajay Mahajan

Published in: Clinical Research in Cardiology | Issue 9/2015

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Excerpt

Holt–Oram syndrome was first reported in 1960 by Mary Clayton Holt and Samuel Oram, who detected an atrial septal defect in members of four generations of a family which was associated with a congenital anomaly of the thumb which lay in the same plane as the fingers [1]. …
Literature
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Basson CT, Cowley GS, Solomon SD (1994) The clinical and genetic spectrum of the Holt–Oram Syndrome (hand-heart syndrome). N Engl J Med 330:885–891CrossRefPubMed
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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:3100–3107CrossRefPubMed
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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 15:30–35CrossRefPubMed
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Holt M, Oram S (1960) Familial heart disease with skeletal malformations. Br Heart J 22:236–242 [PUBMED]
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James MA, Mc Carroll HR Jr, Manske PR (1996) Characteristics of patients with hypoplastic thumbs. J Hand Surg Am 21:104–113
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Basson CT, Solomon SD, Weissman B et al (1995) Genetic heterogeneity of heart-hand syndromes. Circulation 91:1326–1329CrossRefPubMed
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Sletten LJ, Pierpont ME (1996) Variation in severity of cardiac disease in Holt–Oram syndrome. Am J Med Genet 65:128–132CrossRefPubMed
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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–E49PubMed
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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:1419–1424CrossRefPubMed
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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)
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Debeer P, Race V, Gewillig M et al (2007) Novel TBX5 mutations in patients with Holt–Oram syndrome. Clini Orthop Relat Res 462:20–26CrossRef
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McDermott DA, Bressan MC, He J et al (2005) TBX5 genetic testing validates strict clinical criteria for Holt–Oram syndrome. Pediatr Res 58(5):981–986CrossRefPubMed
Metadata
Title
Tetralogy of Fallot with Holt–Oram syndrome: case report and review
Authors
Abhay Tidake
Pranil Gangurde
Zohaib Shaikh
Ajay Mahajan
Publication date
01-09-2015
Publisher
Springer Berlin Heidelberg
Published in
Clinical Research in Cardiology / Issue 9/2015
Print ISSN: 1861-0684
Electronic ISSN: 1861-0692
DOI
https://doi.org/10.1007/s00392-015-0858-8

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