Natural history of Barth syndrome: a national cohort study of 22 patients.

ABSTRACT:

Background

This study describes the natural history of Barth syndrome (BTHS).

Methods

The medical records of all patients with BTHS living in France were identified in multiple sources and reviewed.

Results

We identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million births (95%CI: 0.2-2.3). The median age at presentation was 3.1 weeks (range, 0-1.4 years), and the median age at last follow-up was 4.75 years (range, 3-15 years). Eleven patients died at a median age of 5.1 months; 9 deaths were related to cardiomyopathy and 2 to sepsis. The 5-year survival rate was 51%, and no deaths were observed in patients ≥3 years. Fourteen patients presented with cardiomyopathy, an

SUBMITTER: Rigaud C 

PROVIDER: S-EPMC3656783 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature