STUDY OBJECTIVE: To estimate birth prevalence of tetralogy of Fallot (TF) in Malta. DESIGN: Retrospective data collection and analysis, and comparison with earlier epidemiological studies dealing with congenital heart disease. SETTING: Regional hospital providing exclusive diagnostic and follow up services for the entire country of Malta. PATIENTS: All Maltese live births diagnosed as having TF. MAIN RESULTS: The birth prevalence of TF in Malta for the period 1980-1994 was 0.64/1000 live births (95% confidence intervals 0.48, 0.85/1000 live births). This was significantly higher than previously reported in the medical literature. CONCLUSIONS: The Maltese gene pool seems to have a genetic predisposition towards live births with TF. Population genetic studies with emphasis on the prevalence of 22q11 microdeletion may yield clues regarding the cause of the high rate of this condition.
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