CONTRIBUTION OF HERITABLE DISORDERS TO MORTALITY IN THE PEDIATRIC INTENSIVE-CARE UNIT

Objectives. To determine the percentage of patients dying in the pedia tric intensive care unit (PICU) who have heritable disorders and to co mpare vital statistics classification of underlying cause of death wit h underlying heritable disorder identified from medical record review. Design. Retrospective medical record review. Setting. The PICU of a u niversity-affiliated hospital. Methods. Medical records were reviewed for all deaths occurring in the PICA over a 5-year period. Further rev iew, including hospital course, clinical findings, and the presence or absence of a genetic evaluation, was accomplished for those patients found to have a chromosome abnormality, recognized syndrome, single ma jor malformation, or unrecognized syndrome. Underlying cause of death classification obtained from the Center for Health Statistics, Arkansa s Department of Health was reviewed to determine the frequency with wh ich the underlying heritable disorder was recorded. Results. Fifty-one of 268 (19%) deaths during the study period were in patients with her itable disorders. Of these 51 patients, eight (16%) had chromosome abn ormalities, 17 (33%) had a recognized syndrome, 15 (29%) had a single primary defect in development, and 11 (22%) had an unrecognized syndro me. Genetic evaluation was carried out on 45% of patients, with the fr equency of evaluation differing between categories of patients with he ritable conditions. When underlying cause of death from vital statisti cs classification was reviewed, 21 of 51 (41%) records did not include the underlying heritable disorder. Conclusions. Heritable disorders a re a frequent cause of mortality in the PICU. Vital statistics classif ication of underlying cause of death in this population often fails to identify heritable disorders, leading to an underascertainment of the se conditions in mortality statistics. Improved cause of death classif ication procedures will be necessary to target public health intervent ions to etiology-specific populations.