What question did this study set out to answer?

To synthesize the clinical spectrum, genetic etiology, diagnostic criteria, and management strategies for the rare X-linked multisystem disorder known as Barth syndrome.

February 12, 2013Orphanet Journal of Rare DiseasesOpen Access

Barth syndrome

View Full Paper

Ask AI

Bookmark

Population

Males with Barth syndrome, a rare X-linked genetic disease characterised by cardiomyopathy, skeletal…

Design

Review

Authors

SCSarah L. N. ClarkeAstraZeneca (United Kingdom)ABAnn BowronNewcastle upon Tyne Hospitals NHS Foundation Trust IGIris L. GonzalezHospital General Universitario de Alicante Doctor Balmis

Discussion

Member takes

Implication

May warrant multidisciplinary evaluation in suspected cases; leaves open prospective trials on targeted therapies.

Key Points

To synthesize the clinical spectrum, genetic etiology, diagnostic criteria, and management strategies for the rare X-linked multisystem disorder known as Barth syndrome.
Reviewed clinical features, genetic causes, and diagnostic advancements regarding Barth syndrome since its initial description in 1983.
Summarized phenotypic variations across reported affected males and carriers, alongside diagnostic biomarkers and therapeutic modalities.
Barth syndrome is caused by mutations in the TAZ gene at Xq28, which impair cardiolipin remodeling within the inner mitochondrial membrane.
Clinical presentation exhibits substantial phenotypic variability, including dilated or hypertrophic cardiomyopathy, neutropenia, growth delay, and elevated urinary 3-methylglutaconic acid, though any feature may be absent.
Definitive diagnosis is achieved via cardiolipin ratio analysis and TAZ sequencing, while management relies on cardiomyopathy therapy, G-CSF for neutropenia, antibiotic prophylaxis, and cardiac transplantation in approximately 14% of patients.

Structured PICO

Population

Males with Barth syndrome (BTHS), a rare X-linked genetic disease characterised by cardiomyopathy, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid.

Barth syndrome is an under-diagnosed, multi-system X-linked disorder requiring multidisciplinary care and can be definitively diagnosed via cardiolipin testing and TAZ sequencing.

Cite This Study

Clarke et al. (2013) studied this question.

synapsesocial.com/papers/6a7d2990469c795fc42791b8 https://doi.org/10.1186/1750-1172-8-23

View Full Paper

Ask AI

Bookmark