title: Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis.
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.
authors.affiliation: Geisinger Commonwealth School of Medicine, Scranton, PA.
authors.forename: Leanne
authors.initials: L
authors.lastname: Woiewodski
authors.affiliation: Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA; University of Pittsburgh School of Medicine, Pittsburgh, PA.
authors.forename: David
authors.initials: D
authors.lastname: Ezon
authors.affiliation: Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA; University of Pittsburgh School of Medicine, Pittsburgh, PA.
authors.forename: James
authors.initials: J
authors.lastname: Cooper
authors.affiliation: Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA; University of Pittsburgh School of Medicine, Pittsburgh, PA. Electronic address: Brian.Feingold@chp.edu.
authors.forename: Brian
authors.initials: B
authors.lastname: Feingold
mesh_terms: D056889:Barth Syndrome / Q000175:diagnosis* / Q000628:therapy; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000628:therapy; D057210:Delayed Diagnosis; D005500:Follow-Up Studies; D006333:Heart Failure / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008297:Male; D009503:Neutropenia / Q000175:diagnosis* / Q000628:therapy; D035583:Rare Diseases; D018570:Risk Assessment; D013997:Time Factors
keywords: Barth syndrome; cardiomyopathy; growth delay; neutropenia; noncompaction