PRDM16 Deletion Is Associated With Sex-Dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study

Abstract

BACKGROUND: 1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor METHODS: This retrospective cohort included subjects with 1p36 deletion syndrome from 4 hospitals. Prevalence of cardiomyopathy and freedom from death, cardiac transplantation, or ventricular assist device were analyzed. A systematic review cohort was derived for further analysis. A cardiac-specific RESULTS: The retrospective cohort included 71 patients. Among individuals with CONCLUSIONS