We demonstrate that heart-hand syndromes are genetically heterogeneous. Conditions that clinically appear to be partial phenocopies of Holt-Oram syndrome arise from distinct disease genes.

Four children are described, (three black and one white, two boys and two girls) with type A postaxial polydactyly. All four of them, in addition, had either a partial or complete atrioventricular septal defect (AVSD). None of these children had associated major malformations. Minor anomalies were observed (e.g., two patients with hypersegmentation of the sternal segments, one patient with undescended testes, one patient with hypoplastic lumbar vertebra, and one patient with a degree of craniofacial abnormality). Chromosome analysis was carried out for three of the four patients, and was normal in all of them. It is suggested that there is a specific association between type A postaxial polydactyly and the AVSD found in each of these patients. This picture does not conform to, but bears some resemblance to, the Ellis-van Creveld syndrome.

No abstract

A case of right-sided endocarditis due to Salmonella typhi is described involving a native tricuspid valve in a child who was human immunodeficiency virus negative with no evidence of intravenous drug addiction. The patient had classic features of typhoid and tricuspid regurgitation without clinical evidence of bacterial endocarditis. Transthoracic echocardiography confirmed the tricuspid regurgitation. However, transesophageal echocardiography was necessary to demonstrate the vegetations affecting the tricuspid valve leaflets that made possible the diagnosis of endocarditis. The infection was cured with intravenous ceftriaxone and oral amoxicillin.