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

Leanne Woiewodski; David Ezon; James Cooper; Brian Feingold

doi:10.1016/j.jpeds.2016.12.070

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

Leanne Woiewodski
, David Ezon
, James Cooper
, Brian Feingold

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

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.

Original language	English
Pages (from-to)	196-198
Number of pages	3
Journal	Journal of Pediatrics
Volume	183
DOIs	https://doi.org/10.1016/j.jpeds.2016.12.070
State	Published - 1 Apr 2017
Externally published	Yes

Keywords

Barth syndrome
cardiomyopathy
growth delay
neutropenia
noncompaction

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10.1016/j.jpeds.2016.12.070

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@article{d1b7309159b548caa4ba1fe09f5bd167,

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.",

keywords = "Barth syndrome, cardiomyopathy, growth delay, neutropenia, noncompaction",

author = "Leanne Woiewodski and David Ezon and James Cooper and Brian Feingold",

note = "Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",

year = "2017",

month = apr,

day = "1",

doi = "10.1016/j.jpeds.2016.12.070",

language = "English",

volume = "183",

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journal = "Journal of Pediatrics",

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}

TY - JOUR

T1 - Barth Syndrome with Late-Onset Cardiomyopathy

T2 - A Missed Opportunity for Diagnosis

AU - Woiewodski, Leanne

AU - Ezon, David

AU - Cooper, James

AU - Feingold, Brian

PY - 2017/4/1

Y1 - 2017/4/1

N2 - 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.

AB - 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.

KW - Barth syndrome

KW - cardiomyopathy

KW - growth delay

KW - neutropenia

KW - noncompaction

UR - https://www.scopus.com/pages/publications/85009786721

U2 - 10.1016/j.jpeds.2016.12.070

DO - 10.1016/j.jpeds.2016.12.070

M3 - Article

C2 - 28108107

AN - SCOPUS:85009786721

SN - 0022-3476

VL - 183

SP - 196

EP - 198

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

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

Abstract

Keywords

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