Mortality in Achondroplasia study: A 40 year follow-up. J. Wynn¹, M.J. Gambello¹, T.M. King¹, A. Scott³, K. Waller², J.T. Hecht¹. 1) Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX; 2) The University of Texas School of Public Health, Houston, TX; 3) Houston Shriners Hospital, Houston, TX.
   Achondroplasia (ACH) is a well-studied, common dwarfing condition that affects approximately 12,000 persons in the US. In studies of the natural history, an increase in overall mortality, age specific mortality up to age 34 years and cardiovascular disease related mortality was identified in a large cohort of ACH individuals. Concern about premature death, particularly in young adults, has continued to be a worry in the ACH population. This study was undertaken to follow up the original ACH mortality study to assess the patterns of mortality in a more contemporaneous population. Seven hundred eighteen ACH individuals from the original study and 75 new ACH individuals ascertained through the University of Texas Medical School at Houston were assessed for vital status using the National Death Index, Social Security Administration Death Master File and the Little People of America list of deceased members. The results showed that the overall mortality and age specific mortality at all ages remains significantly increased. Rates of death were similar in the first and second 20 years of follow-up suggesting that higher death rates were still occurring in this ACH population. Accidental, neurological, and cardiac deaths were all significantly increased in adults. Cardiovascular disease related mortality, in ACH individuals between ages 25 to 35, was more than 10 times higher than the general population. Overall survival and the average life expectancy were decreased by fifteen years for this ACH population. This study demonstrates that despite advances in the knowledge of the natural history of ACH and health care of this population, mortality remains significantly increased. The high rate of cardiovascular related deaths illustrates the need for risk factor assessment in the ACH population to identify specific risk factors and to develop treatment interventions.