Contribution of heritable disorders to mortality in the pediatric intensive care unit.

OBJECTIVES

To determine the percentage of patients dying in the pediatric intensive care unit (PICU) who have heritable disorders and to compare vital statistics classification of underlying cause of death with underlying heritable disorder identified from medical record review.

DESIGN

Retrospective medical record review.

SETTING

The PICU of a university-affiliated hospital.

METHODS

Medical records were reviewed for all deaths occurring in the PICA over a 5-year period. Further review, 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 major malformation, or unrecognized syndrome. Underlying cause of death classification obtained from the Center for Health Statistics, Arkansas Department of Health was reviewed to determine the frequency with which the underlying heritable disorder was recorded.

RESULTS

Fifty-one of 268 (19%) deaths during the study period were in patients with heritable disorders. Of these 51 patients, eight (16%) had chromosome abnormalities, 17 (33%) had a recognized syndrome, 15 (29%) had a single primary defect in development, and 11 (22%) had an unrecognized syndrome. Genetic evaluation was carried out on 45% of patients, with the frequency of evaluation differing between categories of patients with heritable conditions. When underlying cause of death from vital statistics classification was reviewed, 21 of 51 (41%) records did not include the underlying heritable disorder.

CONCLUSIONS

Heritable disorders are a frequent cause of mortality in the PICU. Vital statistics classification of underlying cause of death in this population often fails to identify heritable disorders, leading to an underascertainment of these conditions in mortality statistics. Improved cause of death classification procedures will be necessary to target public health interventions to etiology-specific populations.