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Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart defect that, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history and has a low recurrence risk. However, we recently reported a large Utah-Idaho family in which TAPVR segregates as an autosomal dominant trait with decreased penetrance. Linkage mapping with highly polymorphic microsatellite markers localizes the disease locus in this pedigree to the centromeric region of chromosome 4 (maximum lod = 6.51 at theta = .00). Apparent genetic anticipation in the pedigree prompted a search for expanded trinucleotide repeats by using repeat expansion detection. We have found no evidence for a trinucleotide repeat expansion that segregates with TAPVR. A vascular endothelial growth-factor receptor that is thought to have a role in vasculogenesis maps near the pericentric region of chromosome 4 and is a candidate gene for both familial and sporadic cases of TAPVR.

Total anomalous pulmonary venous return (TAPVR) is a rare form of cyanotic congenital heart disease which, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history, and is generally thought to have a low recurrence risk. However, 15 instances of familial TAPVR have been reported previously, suggesting a genetic cause in some cases. We report on a large family in which TAPVR appears to be determined multifactorially or as an autosomal dominant trait with variable expressivity and reduced penetrance.

We describe an outbreak of acute rheumatic fever that occurred in the intermountain area centered in Salt Lake City, Utah. Seventy-four children meeting the modified Jones criteria for the diagnosis of acute rheumatic fever were evaluated by the staff at Primary Children's Medical Center, Salt Lake City, from January 1985 through June 1986. This represents an eightfold increase over the average annual incidence at this hospital during the past decade. Carditis, a dominant feature of the outbreak, was confirmed by auscultation in 53 of the patients (72 percent). An additional 14 patients were found to have mitral regurgitation by Doppler ultrasound examination, raising the total incidence of carditis to 91 percent. The children were predominantly from white (96 percent) middle-class families with above-average incomes and with ready access to medical care. There was no apparent increase in the incidence of streptococcal disease or other explanation for the marked increase in acute rheumatic fever. However, mucoid M type 18 and M type 3 group A streptococcal strains were isolated from several siblings of the patients and from schoolchildren (chosen at random) in the area. We conclude that acute rheumatic fever remains an important health problem in the United States.