Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12 two years ago. We have now identified a gene for this disorder (HOS1). The gene (TBX5) is a member of the Brachyury (T) family corresponding to the mouse Tbx5 gene. We have identified six mutations, three in HOS families and three in sporadic HOS cases. Each of the mutations introduces a premature stop codon in the TBX5 gene product. Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development.

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PurposeRheumatic fever (RF) is uncommon in the UK. The reported incidence in wealthy countries is below 1/100,000. This study aimed to identify how RF presents in South Wales, and to see if patients were diagnosed appropriately and received the correct investigations and treatment.MethodsRetrospective study of all paediatric patients with first presentation of RF in South Wales between 1 st January 2004- 30th April 2017. The Revised Jones Criteria 2015 were used to diagnose RF.ResultsA total of 35 patients met all inclusion criteria, with an estimated incidence of 0.81/100,000 5–14 year olds in South Wales. 28/35 patients presented with carditis, in whom 9 of the carditis was silent and was diagnosed from echocardiographic features. 19/35 patients presented with chorea, 12/35 with arthritis, 4/35 with erythema marginatum and 2/35 with subcutaneous nodules. Only 17/35 patients had a throat swab performed compared to 34/35 who had an ASOT or AntiDNase B titre performed. 6/35 patients had no initial eradication Penicillin treatment, but all 35 patients were on correct secondary prophylaxis.ConclusionAlthough the condition has undergone a decline in the UK, there are still estimated 3 presentations of RF a year in South Wales. Chorea and carditis were the most prominent presenting features, although in many the carditis was clinically silent and was diagnosed by echocardiography. Clinicians still need to be aware of this condition and its treatment, as many patients are not receiving the correct investigations or initial eradication therapy.