Clinical utility of exome sequencing in infantile heart failure.

ABSTRACT:

Purpose

Pediatric cardiomyopathy is rare, has a broad differential diagnosis, results in high morbidity and mortality, and has suboptimal diagnostic yield using next-generation sequencing panels. Exome sequencing has reported diagnostic yields ranging from 30% to 57% for neonates in intensive care units. We aimed to characterize the clinical utility of exome sequencing in infantile heart failure.

Methods

Infants diagnosed with acute heart failure prior to 1 year old over a period of 34 months at a large tertiary children's hospital were recruited. Demographic and diagnostic information was obtained from medical records. Fifteen eligible patients were enrolled.

Results

Dilated cardiomyopathy was the predominant cardiac diagnosis, seen in 60% of patients. A molecular di

SUBMITTER: Ritter A 

PROVIDER: S-EPMC7339672 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature