Literature DB >> 28108107

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

Leanne Woiewodski1, David Ezon2, James Cooper2, Brian Feingold3.   

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.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

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

Mesh：

Year:  2017        PMID： 28108107     DOI： 10.1016/j.jpeds.2016.12.070

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  6 in total

Review 1.  Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.

Authors:  Hana M Zegallai; Grant M Hatch
Journal:  Mol Cell Biochem       Date:  2021-01-07       Impact factor: 3.396

Review 2.  TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Authors:  Anders O Garlid; Calvin T Schaffer; Jaewoo Kim; Hirsh Bhatt; Vladimir Guevara-Gonzalez; Peipei Ping
Journal:  Gene       Date:  2019-10-21       Impact factor: 3.688

3.  Neutropenia in Barth syndrome: characteristics, risks, and management.

Authors:  Colin G Steward; Sarah J Groves; Carolyn T Taylor; Melissa K Maisenbacher; Birgitta Versluys; Ruth A Newbury-Ecob; Hulya Ozsahin; Michaela K Damin; Valerie M Bowen; Katherine R McCurdy; Michael C Mackey; Audrey A Bolyard; David C Dale
Journal:  Curr Opin Hematol       Date:  2019-01       Impact factor: 3.284

4.  Female and Male Carriers of TAZ Mutations Need to be Thoroughly Investigated.

Authors:  Finsterer J; Stollberger C
Journal:  Balkan J Med Genet       Date:  2017-12-29       Impact factor: 0.519

5.  Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome.

Authors:  Jessie Yester; Brian Feingold
Journal:  JIMD Rep       Date:  2021-12-28

6.  Barth Syndrome: Exploring Cardiac Metabolism with Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Authors:  Erica M Fatica; Gina A DeLeonibus; Alisha House; Jillian V Kodger; Ryan W Pearce; Rohan R Shah; Liraz Levi; Yana Sandlers
Journal:  Metabolites       Date:  2019-12-17
  6 in total

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