Excess Birth Prevalence of Hypoplastic Left Heart Syndrome in Eastern Wisconsin for Birth Cohorts 1997-1999

BACKGROUND: Hypoplastic Left Heart syndrome (HLHS) is a group of cardiac malformations involving underdevelopment of the left heart with an inability to maintain systemic circulation. Because of a clinical impression of excess HLHS prevalence, we completed a medical record review of cases born from 1997 through 1999 who were Wisconsin residents and seen at the Children's Hospital of Wisconsin (CHW). METHODS: Cases were identified either in the CHW medical records database or the Division of Pediatric Cardiology database and confirmed by echocardiogram, catheterization, surgery, or autopsy. U.S. and international surveillance systems were used to estimate population risk. Rates per 10,000 births were computed for eastern Wisconsin and four regions within this portion of the state, and compared to the estimated population risk. The same methods were used to evaluate whether rates for tetralogy of Fallot and transposition of the great arteries were elevated. RESULTS: A total of 61 cases were ascertained yielding a birth prevalence of 3.7 per 10,000 births, which was greater than the estimated population risk of 2.79. The rate for the southeast region also exceeded the expected rate. The most urban and industrialized areas had the highest rates. Rates for the other two diagnoses evaluated were not different from estimated population risks. CONCLUSIONS: Eastern Wisconsin, particularly the urban southeast region, had elevated rates of HLHS. Because of the geographic clustering of high rates, environmental factors may be associated with this finding.