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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
Prevalence
1-9 / 1,000,000
Age of Onset
ICD-10
E78.1
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
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.†
5 Facts you should know
FACT
Occurs almost exclusively in males
FACT
Most individuals with Barth syndrome present with cardiomyopathy
FACT
Barth syndrome is also associated with hypotonia skeletal myopathy
FACT
Weakness of the facial muscles may lead to unusual facial expressions
FACT
Barth syndrome is caused by mutations in the TAZ gene
Interest over time
Google searches
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
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
Title | Description | Phases | Status | Interventions | More 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 2/3 | Active, not recruiting | Drug: Elamipretide | More Info |
† Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 https://rarediseases.info.nih.gov