Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis

J Pediatr. 2017 Apr:183:196-198. doi: 10.1016/j.jpeds.2016.12.070. Epub 2017 Jan 18.

Abstract

A male infant presented with neutropenia, growth delay, and death of a maternal uncle at age 2 years. Despite extensive evaluation over 10 years, Barth syndrome was not diagnosed until he presented in acute heart failure. Although late-onset cardiomyopathy is rare, persistence of common Barth features should have enabled earlier diagnosis.

Keywords: Barth syndrome; cardiomyopathy; growth delay; neutropenia; noncompaction.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Barth Syndrome / diagnosis*
  • Barth Syndrome / therapy
  • Cardiomyopathy, Dilated / diagnosis*
  • Cardiomyopathy, Dilated / therapy
  • Delayed Diagnosis*
  • Follow-Up Studies
  • Heart Failure / diagnosis*
  • Heart Failure / therapy
  • Humans
  • Male
  • Neutropenia / diagnosis*
  • Neutropenia / therapy
  • Rare Diseases
  • Risk Assessment
  • Time Factors