Holt-Oram Syndrome With Multiple Cardiac Abnormalities

Marilena Renata Spiridon, Antoniu Octavian Petris, Eusebiu Vlad Gorduza, Anca Sabina Petras, Roxana Popescu, Lavinia Caba


Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities. It is determined by mutations of TBX5 gene and is inherited in an autosomal dominant manner. Penetrance is complete, but variable expressivity is present, which gives sometimes diagnostic difficulties. Our case is a young adult with a personal history of preaxial polydactyly operated in infancy, multiple cardiac malformations (atrial septal defect, bicuspid aortic valve, left ventricular non-compaction) and radiologic findings consistent with HOS. Family history is negative for HOS. In conclusion, we present a case of HOS diagnosed in the adult period to highlight the diagnostic problems for the proband and the family and the importance of an early diagnostic.

Cardiol Res. 2018;9(5):324-329
doi: https://doi.org/10.14740/cr767w


Congenital heart defects; Preaxial polydactyly; Carpal bones; Atrial septal defect; Holt-Oram syndrome

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