Das Holt-Oram Syndrom (HOS)

PROBLEM: The clinical manifestation of the Holt-Oram-syndrome (HOS) shows congenital heart-disease and anomalies of the upper limb. The inheritance of this syndrome is autosomal dominant. The question arise, as to whether a contemporary orthopedic concept of treatment could developed based on own experiences and data from the literature. METHODS: We revised data from five patients with HOS treated at the Clinic for Orthopaedics of the University of Heidelberg. The review of the literature revealed a comprehensive and detailed picture of the clinical syndrome 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 persisting Botall's duct (three cases). The types of malformation of the upper limb corresponded with those found in the literature. Furthermore the indication for amputation of rudimentary or hypoplastic fingers in the Heidelberg clinic was in accordance with the clinical treatments described worldwide. CONCLUSION: The type of treatment of the clubhand in cases with HOS depends on (1) the age and (2) the pattern and degree of accompanying malformations of the upper limb. For patients with aplasia of the thumb or amputation of a rudimental one we recommend pollicisation of the index finger to improve its function.