Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review
| Autor: | Antonios Gklavas, Gerassimos J. Mantzaris, Ioannis Papaconstantinou, Malena P. Pantou, Margarita Karageorgou, Polyxeni Gourzi, Panagiotis-Theofanis Arkoumanis |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Crohn’s disease Adult Heart Defects Congenital medicine.medical_specialty Case Report Disease 030204 cardiovascular system & hematology 030105 genetics & heredity Heart Septal Defects Atrial 03 medical and health sciences 0302 clinical medicine Rare Diseases Cardiac-limb syndrome Crohn Disease Rare case medicine Humans Abnormalities Multiple Upper Extremity Deformities Congenital Chromosome 12 Crohn's disease Tbx5 gene Conduction abnormalities Holt–Oram syndrome business.industry General Medicine Holt-Oram syndrome medicine.disease Dermatology medicine.anatomical_structure Treatment Outcome Upper limb Female business Lower Extremity Deformities Congenital |
| Zdroj: | Medical Archives |
| ISSN: | 1986-5961 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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