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Spotlight On

Barth syndrome

Barth syndrome is a metabolic and neuromuscular disorder, occurring almost exclusively in males, that primarily affects the heart, immune system, muscles, and growth

Prevelance

1 / 300,000 - 400,000

331 - 2,979

US Estimated

514 - 4,622

Europe Estimated

Age of Onset

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ICD-10

E78.1

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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Rare View

Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism. It is a rare condition characterized by dilated cardiomyopathy, skeletal myopathy, recurrent infections due to neutropenia, and short stature. Barth syndrome occurs almost exclusively in males.

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5 Facts you should know

FACT

1

Occurs almost exclusively in males

FACT

2

Most individuals with Barth syndrome present with cardiomyopathy

FACT

3

Barth syndrome is also associated with hypotonia skeletal myopathy

FACT

4

Weakness of the facial muscles may lead to unusual facial expressions

FACT

5

Barth syndrome is caused by mutations in the TAZ gene

Barth syndrome is also know as...

Barth syndrome

BTHS; 3-methylglutaconic aciduria type II; MGA type II; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; TAZ defect

What’s your Rare IQ?

The most common comorbidity of Barth syndrome is_______?

Common signs & symptoms

Dilated cardiomyopathy

Stretched and thinned heart muscled

Abnormal mitochondrial morphology

Abnormality of neutrophils

Endocardial fibroelastosis

Neutropenia

Low blood neutrophil count
Low neutrophil count

Organic aciduria

Talipes equinovarus

Club feet/foot

Current treatments

The treatment of Barth syndrome is generally directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals which includes a pediatrician, pediatric cardiologist, hematologist, specialist in the treatment of bacterial infections, physical therapist, occupational therapist, and/or other health care professionals.

Many infants and children with Barth syndrome require therapy with diuretic and digitalis medications to treat heart failure. Some affected children are gradually removed from such cardiac therapy during later childhood due to improvement of heart functioning. For affected individuals with confirmed neutropenia, complications due to bacterial infection are often preventable by ongoing monitoring and early therapy of suspected infections with antibiotics. For example, antibiotics may be provided as a preventive (prophylactic) therapy during neutropenia to prevent the onset of infection. Other treatment for this disorder is typically symptomatic and supportive.

Top Clinical Trials

TitleDescriptionPhasesStatusInterventionsMore Information
A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome (TAZPOWER)A randomized double-blind cross over trial to evaluate the safety, efficacy and tolerability of elamipretide in subjects with Barth Syndrome.Phase 2/3Active, not recruitingDrug: ElamipretideClick here for more information

Top Treatments in Research

AgentClass/Mechanism of ActionDevelopment StatusCompanyClinical StudiesMore Information
ElamipretideElamipretide (SS-31) is a novel mitochondrion-targeted antioxidantPhase 2/3Stealth BioTherapeuticsClick here for more informationClick here for more information

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 https://rarediseases.info.nih.gov