Holt-Oram Syndrome in a Patient with Crohn’s Disease: a Rare Case Report and Literature Review

INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. CASE REPORT: We pres...

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Detalles Bibliográficos
Autores principales: Arkoumanis, Panagiotis-Theofanis, Gklavas, Antonios, Karageorgou, Margarita, Gourzi, Polyxeni, Mantzaris, Gerassimos, Pantou, Malena, Papaconstantinou, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences of Bosnia and Herzegovina 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194948/
https://www.ncbi.nlm.nih.gov/pubmed/30514998
http://dx.doi.org/10.5455/medarh.2018.72.292-294
Descripción
Sumario:INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. CASE REPORT: We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn’s disease. CONCLUSION: To the best of our knowledge association of Holt-Oram syndrome with Crohn’s disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohn’s disease remains to be determined.

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