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Holt-Oram Syndrome in a Patient with Crohns Disease: a Rare Case Report and Literature Review
Panagiotis-Theofanis Arkoumanis, Antonios Gklavas, Margarita Karageorgou, Polyxeni Gourzi, Gerassimos Mantzaris, Malena Pantou, Ioannis Papaconstantinou. Abstract | | | | 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 Crohns disease. Conclusion: To the best of our knowledge association of Holt-Oram syndrome with Crohns disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohns disease remains to be determined.
Key words: Holt-Oram syndrome, Crohns disease, Cardiac-limb syndrome.
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