Pediatr. praxi. 2014;15(3):158-160

Heart failure as initial manifestation of Barth syndrome

MUDr.Marie Ryzí¹, MUDr.Michal Ryzí², MUDr.Pavel Vít¹, MUDr.Miroslava Burešová¹, MUDr.Stella Mazurová³

¹ Pediatrická klinika, oddělení kardiologie, LF MU a FN Brno

² Klinika dětské neurologie, LF MU a FN Brno

³ Klinika dětského a dorostového lékařství 1. LF UK a VFN, Praha

Barth syndrome (BTHS) is a gonosomal recessive disease characterized by heart involvement, neutropenia, myopathy, and growth retardation.

The case report presents a nearly four-year-old boy who was hospitalized at our centre at the age of four months with a severe

form of dilated cardiomyopathy. Treatment for heart failure was commenced. The investigations performed failed to show an infectious

or other aetiology of the condition. As part of a broader differential diagnostic approach, the child underwent screening for metabolic

disorders that showed 3-methylglutaconic aciduria. Barth syndrome was suspected and subsequently confirmed by molecular genetic

testing with a finding of a hemizygous mutation (c. 109 + 6T > C) in the TAZ gene. Due to timely diagnosis and comprehensive treatment

of heart failure, there has been improvement and, over time, even normalization of cardiac function. The aim of the paper is to highlight

this rare condition and provide basic information on it.

Keywords: Barth syndrome, 3-methylglutaconic aciduria, cardiomyopathy, neutropenia, growth retardation

Published: June 1, 2014  Show citation