HOLT-ORAM-SYNDROME - REVIEW OF THE LITERA TURE AND CURRENT ORTHOPEDICCONCEPTS OF TREATMENT

Problem: The clinical manifestation of the Holt-Oram-syndrome (HOS) sh ows congenital heart-disease and anomalies of the upper limb. The inhe ritance of this syndrome is autosomal dominant. The question arise, as to wether a contemporary orthopedic concept of treatment could develo ped based on own experiences and data from the literature. Methods: We revised data from five patients with HOS treated at the Clinic for Or thopaedics of the University of Heidelberg. The review of the literatu re revealed a comprehensive and detailed picture of the clinical syndr ome and, furthermore, information in respect to a comparative analysis of methods of treatments. Results: Our patients showed characteristic cardiac anomalies, i.e. atrio and ventricular septal defects, and per sisting Botall`s duct (three cases). The types of mal formation of the upper limb corresponded with those found in the literature. Furthermo re the indication far amputation of rudimentary or hypoplastic fingers in the Heidelberg clinic was in accordance with the clinical treatmen ts described worldwide. Conclusion: The type of treatment of the clubh and in cases with HOS depends on (1) the age and (2) the pattern and d egree of accompanying malformations of the upper limb. For patients wi th aplasia of the thumb or amputation of a rudimental one we recommend pollicisation of the index finger to improve its function.