All-cause mortality and survival in adults with 22q11.2 deletion syndrome.

ABSTRACT:

Purpose

Given limited data available on long-term outcomes in 22q11.2 deletion syndrome (22q11.2DS), we investigated mortality risk in adults with this microdeletion syndrome.

Methods

We studied 309 well-characterized adults (age ≥17 years) with 22q11.2DS and their 1014 unaffected parents and siblings, using a prospective case-control design. We used Cox proportional hazards regression modeling and Kaplan-Meier curves to investigate effects of the 22q11.2 deletion and its associated features on all-cause mortality and survival.

Results

The 22q11.2 deletion (hazard ratio [HR] 8.86, 95% CI 2.87-27.37) and major congenital heart disease (CHD; HR 5.03, 95% CI 2.27-11.17), but not intellectual disability or psychotic illness, were significant independent predictors of mort

SUBMITTER: Van L 

PROVIDER: S-EPMC6774995 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature