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Holt-Oram syndrome presenting as agenesis of the left pericardium.
Int J Cardiol. 2007 Jan 02; 114(1):98-100.IJ

Abstract

We report on a case of a 60-year-old man with progressive heart failure, mitral and aortic valve insufficiency and bilateral asymmetrical skeletal upper-limb deformities. Central to the suspicion of Holt-Oram syndrome in this patient was the surgical finding of agenesis of the left pericardium. A Holt-Oram syndrome diagnostic was confirmed through molecular analysis of the TBX5 gene. A new amino acid substitution at position 61 of the TBX5 gene was identified and confirmed the clinical diagnosis of Holt-Oram syndrome. The clinical presentation of the present case broadens the clinical spectrum of Holt-Oram syndrome and point out the importance of Tbx 5 in pericardium development. It is still an unstudied issue whether TBX5 mutations may also be present in other clinical presentations where absence of the pericardium is a feature.

Authors

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Pub Type(s)

Case Reports
Letter

Language

eng

PubMed ID

16376438

Citation

Dias, Ricardo Ribeiro, et al. "Holt-Oram Syndrome Presenting as Agenesis of the Left Pericardium." International Journal of Cardiology, vol. 114, no. 1, 2007, pp. 98-100.
Dias RR, Albuquerque JM, Pereira AC, et al. Holt-Oram syndrome presenting as agenesis of the left pericardium. Int J Cardiol. 2007;114(1):98-100.
Dias, R. R., Albuquerque, J. M., Pereira, A. C., Stolf, N. A., Krieger, J. E., Mady, C., & Oliveira, S. A. (2007). Holt-Oram syndrome presenting as agenesis of the left pericardium. International Journal of Cardiology, 114(1), 98-100.
Dias RR, et al. Holt-Oram Syndrome Presenting as Agenesis of the Left Pericardium. Int J Cardiol. 2007 Jan 2;114(1):98-100. PubMed PMID: 16376438.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Holt-Oram syndrome presenting as agenesis of the left pericardium. AU - Dias,Ricardo Ribeiro, AU - Albuquerque,João M A C, AU - Pereira,Alexandre C, AU - Stolf,Noedir A G, AU - Krieger,Jose E, AU - Mady,Charles, AU - Oliveira,Sérgio A, Y1 - 2006/01/10/ PY - 2005/08/02/received PY - 2005/09/18/accepted PY - 2005/12/27/pubmed PY - 2007/1/26/medline PY - 2005/12/27/entrez SP - 98 EP - 100 JF - International journal of cardiology JO - Int J Cardiol VL - 114 IS - 1 N2 - We report on a case of a 60-year-old man with progressive heart failure, mitral and aortic valve insufficiency and bilateral asymmetrical skeletal upper-limb deformities. Central to the suspicion of Holt-Oram syndrome in this patient was the surgical finding of agenesis of the left pericardium. A Holt-Oram syndrome diagnostic was confirmed through molecular analysis of the TBX5 gene. A new amino acid substitution at position 61 of the TBX5 gene was identified and confirmed the clinical diagnosis of Holt-Oram syndrome. The clinical presentation of the present case broadens the clinical spectrum of Holt-Oram syndrome and point out the importance of Tbx 5 in pericardium development. It is still an unstudied issue whether TBX5 mutations may also be present in other clinical presentations where absence of the pericardium is a feature. SN - 1874-1754 UR - https://www.unboundmedicine.com/medline/citation/16376438/Holt_Oram_syndrome_presenting_as_agenesis_of_the_left_pericardium_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0167-5273(05)01314-8 DB - PRIME DP - Unbound Medicine ER -