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

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

Leanne Woiewodski  1 , David Ezon  2 , James Cooper  2 , Brian Feingold  3
Affiliations
Review

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

Leanne Woiewodski et al. J Pediatr. 2017 Apr.

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.

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Comment in

  • Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20.
    Finsterer J, Stollberger C. Finsterer J, et al. J Pediatr. 2017 Jul;186:214. doi: 10.1016/j.jpeds.2017.02.066. Epub 2017 Mar 18. J Pediatr. 2017. PMID: 28318529 No abstract available.
  • Reply.
    Woiewodski L, Ezon D, Cooper J, Feingold B. Woiewodski L, et al. J Pediatr. 2017 Jul;186:214-215. doi: 10.1016/j.jpeds.2017.02.069. Epub 2017 Mar 20. J Pediatr. 2017. PMID: 28336143 No abstract available.