Importantly, while most affected patients present with some form of cardiomyopathy, a small subset of BTHS patients do not present initially with cardiomyopathy, but may develop cardiomyopathy later in life. [rarediseasesjournal.com]

Growth deficiency was present (mean weight percentile: 15%; mean height percentile: 8%). [ncbi.nlm.nih.gov]

The girl presented recurrent episodes of severe acute heart failure, progressive muscle weakness, and had a fatal septic shock at 3years. [zora.uzh.ch]

Clinical description Clinical presentation is highly variable. [orpha.net]

The index case presented with acute metabolic decompensation at 13 days of age. [dx.doi.org]

• Failure to Thrive

  Signs and symptoms of Barth syndrome include: skeletal muscle abnormalities delayed gross motor skill development weak muscle tone frequent infections failure to thrive in infants and other abnormalities in growth exercise intolerance or lack of stamina [childrenshospital.org]

  […] to thrive as infants, poor muscle tone, difficulty with fine finger movements and walking, lack of stamina and frequent serious bacterial infections. [nicklauschildrens.org]

  Such abnormal weight-for-height ratios in Barth syndrome are rarely caused by nutritional failure-to-thrive, but are a "normal" characteristic of Barth syndrome. [web.archive.org]

  These symptoms can include: Heart conditions such as arrhythmias, heart failure, and cardiomyopathy Failure to thrive Delays in meeting developmental milestones Delays in the acquisition of gross motor skills Exercise intolerance Muscle weakness Easily [verywellhealth.com]

• Palpitations

  Cardiologically, he had never experienced syncope and presented with occasional episodes of chest pain and palpitations. [revespcardiol.org]

  A low threshold for performing an electrophysiologic study to assess for a potentially serious arrhythmia is appropriate, especially in the presence of symptoms such as palpitations and syncope, abnormal arrhythmia screening tests, or a family history [ncbi.nlm.nih.gov]

• Chest Pain

  Cardiologically, he had never experienced syncope and presented with occasional episodes of chest pain and palpitations. [revespcardiol.org]

• Muscle Weakness

  […] risk for bacterial infections), hypotonia (reduced muscle tone), muscle weakness, undeveloped skeletal muscles, delayed growth, lack of stamina, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that [brainfacts.org]

  The resulting muscle weakness can lead to severe fatigue, heart failure and death,” said Doug Weaver, chief medical officer at Stealth. [mitochondrialdiseasenews.com]

  […] barth syndrome trust Barth syndrome is a rare genetic condition that mostly affects boys Main symptoms: Heart muscle weakness (cardiomyopathy) Neutropenia (lack of white blood cells needed to fight bacterial infections) Fatigue and general muscle weakness [geneticalliance.org.uk]

  Barth syndrome is an X-linked disease characterized by the following clinical features: - Short stature - Cardiomyopathy - Skeletal myopathy (muscle weakness) - Endocardial fibroelastosis - Increased urinary 3-methylglutaconate and 3-methylglutarate - [immunodeficiencysearch.com]

  The girl presented recurrent episodes of severe acute heart failure, progressive muscle weakness, and had a fatal septic shock at 3years. [zora.uzh.ch]

• Round Face

  Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents as heart failure and/or arrhythmias including sudden death, growth delay and failure [nicklauschildrens.org]

  They have a round face with prominent chin and full cheeks. The ears are large, and they have deep set eyes. The facial features become less noticeable with age. [rarediseases.org]

  face Circular face Round facial appearance Round facial shape [ more ] 0000311 Skeletal myopathy 0003756 X-linked recessive inheritance 0001419 Showing of 29 | Last updated: 12/1/2018 Barth syndrome is caused by mutations in the TAZ gene, which is located [rarediseases.info.nih.gov]

• Abnormal Gait

  […] disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Granulocytopenia 0001913 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Hypertrophic cardiomyopathy Enlarged [rarediseases.info.nih.gov]

• Seizure

  On August 27, 2001, Jacob suffered his first seizure. This was said to be a febrile seizure caused by virus. Jacob went on to have 5 seizures altogether. [medium.com]

  Avoid with a history of seizures. Use cautiously with adrenal or thyroid disorders. Use cautiously if taking anticoagulants or drugs, herbs, or supplements for diabetes, heart disease, seizures, or stroke. [health24.com]

  No seizures were recorded. Acidosis was repeatedly corrected with sodium bicarbonate over the next three days and lactate normalized (15 mg/dL). Initial lumbar puncture and sepsis workup were normal. Blood chemistry showed normal values. [enlivenarchive.org]

• Irritability

  Some patients may experience minor complications, such as cramping, leaking fluid, or irritation where the needle was inserted. [health24.com]

Clinical testing and workup As a part of routine follow up, growth and height of the children are monitored regularly. [rarediseases.org]

Initial lumbar puncture and sepsis workup were normal. Blood chemistry showed normal values. Pyruvate was initially elevated [2.37 mg/dL (0.36-0-59) (= 262 µmol/L)]. [enlivenarchive.org]

Although diagnostic workup, including bone marrow biopsy, had been negative to date, he began receiving biweekly injections of granulocyte colony stimulating factor with a beneficial effect [8]. [journals.lww.com]

Laboratory workup for neutrophil dysfunctions: numerical and functional defects. J Immunol Methods. 1999 ; 232 : 211 -229. ↵ Murdoch C, Finn A. Chemokine receptors and their role in inflammation and infectious diseases. [dx.doi.org]

• Hyperuricemia

  […] cholesterol metabolism E78.8 Other disorders of lipoprotein metabolism E78.81 Lipoid dermatoarthritis E78.89 Other lipoprotein metabolism disorders E78.9 Disorder of lipoprotein metabolism, unspecified E79 Disorders of purine and pyrimidine metabolism E79.0 Hyperuricemia [icd10data.com]

• Short PR Interval

  A recent electrocardiogram (ECG) was essentially unremarkable ( Figure 1 ), showing in sinus rhythm a slightly short PR interval (0.12 ms), and mildly high voltage QRS, in particular deep S waves in V1-V2 with ST elevation with an early repolarization [revespcardiol.org]

• ST Elevation

  A recent electrocardiogram (ECG) was essentially unremarkable ( Figure 1 ), showing in sinus rhythm a slightly short PR interval (0.12 ms), and mildly high voltage QRS, in particular deep S waves in V1-V2 with ST elevation with an early repolarization [revespcardiol.org]

Treatment - Barth syndrome Treatment is directed toward the specific symptoms that are apparent in each individual. The treatment of Barth syndrome is generally directed toward the specific symptoms that are apparent in each individual. [checkorphan.org]

Secondary endpoints will include other functional assessments (of muscle strength, balance, etc.), patient-reported outcomes, and overall treatment safety. [mitochondrialdiseasenews.com]

< Previous section Next section > < Previous section Next section > Standard Therapies Treatment The treatment of Barth syndrome is for specific symptoms. [rarediseases.org]

Current treatment strategies are merely ameliorative in nature and up to 30% of patients still succumb to the disease early in life. A curative treatment is still an unmet need. [digital.lib.washington.edu]

Treatment varies depending on symptoms. Research in gene therapy is ongoing with the hope of developing a cure. [diseaseinfosearch.org]

Diagnosis - Barth syndrome Prognosis - Barth syndrome Prognosis has greatly improved with early detection and improvements in treatment and management. Patients are already surviving into their 40s and are expected to live beyond this age. [checkorphan.org]

Prognosis Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. Severe infections and cardiac failure are common causes of death in affected children. [brainfacts.org]

Prognosis Prognosis has greatly improved with early detection and improvements in treatment and management. Patients are already surviving into their 40s and are expected to live beyond this age. [orpha.net]

Therefore, early diagnosis and management, with recognition of a wide range of phenotypes, are important for improving the prognosis of Barth syndrome. [ci.nii.ac.jp]

Early and accurate diagnosis can help medical treatment and improve prognosis. Despite poor prognosis of Barth syndrome during infancy, patients can survive until adulthood. [revespcardiol.org]

Etiology BTHS is caused by mutations in the TAZ gene (tafazzin; Xq28) which encodes Taz1p acyltransferase involved in the metabolism of cardiolipin, a major phospholipid in inner mitochondrial membranes. [orpha.net]

To evaluate the implication of TAZ gene in the etiology of DCM and left ventricular non-compaction we studied the TAZ gene in 48 DCM and left ventricular non-compaction patients. [revespcardiol.org]

Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. Chem Phys Lipids. 2015;193:1-10. Reynolds S. [rarediseases.org]

Summary Epidemiology Prevalence is estimated at 1/454,000 and incidence at 1/140,000 (South-West England, South Wales) to 1/300,000-1/400,000 live births (USA). BTHS affects male patients. [orpha.net]

The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003; 348: 1639-1646 Wilkinson J.D. Landy D.C. Colan S.D. Towbin J.A. Sleeper L.A. Orav E.J. et al. [jpeds.com]

Differentiating Barth syndrome from Other Diseases Epidemiology and Demographics It affects at least one hundred families worldwide. [wikidoc.org]

However, more research and (pre-)clinical testing is needed before the gene therapy is eligible for approval by the FDA as a treatment modality.[14][15] Epidemiology[edit] Being X-linked, Barth syndrome has been predominantly diagnosed in males (as of [en.wikipedia.org]

Phosphokinome Analysis of Barth Syndrome Lymphoblasts Identify Novel Targets in the Pathophysiology of the Disease. Int. J. Mol. Sci. 2018, 19, 2026. [mdpi.com]

Here, we combined patient-derived and genetically engineered induced pluripotent stem cells (iPSCs) with tissue engineering to elucidate the pathophysiology underlying the cardiomyopathy of Barth syndrome (BTHS), a mitochondrial disorder caused by mutation [miami.pure.elsevier.com]

This objective fits into our broad goals to understand the function of cardiolipin in mitochondria and to unravel the molecular pathophysiology of BTHS. [grantome.com]

Historical Perspective Classification Pathophysiology Causes Mutations in the BTHS gene are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. [wikidoc.org]

“Because it is a relatively newly diagnosed disease, there is still much to learn regarding its pathophysiology and relation to impaired skeletal muscle and heart function.” [outlook.wustl.edu]

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. Resources - Barth syndrome [checkorphan.org]

For example, antibiotics may be provided as a preventive (prophylactic) therapy during neutropenia to prevent the onset of infection. Giving uncooked cornstarch before bedtime is recommended to prevent muscle loss. [rarediseases.org]

Preventative daily antibiotics will reduce the risk of bacterial infection if boys are severely neutropenic. [contact.org.uk]

This phenotype can be genetically suppressed by inactivation of the gene encoding a calcium-independent phospholipase A(2), iPLA2-VIA, which also prevents cardiolipin depletion/monolysocardiolipin accumulation, although in wild-type flies inactivation [ncbi.nlm.nih.gov]

Your child may need antibiotics to prevent an infection if neutrophil levels are low. Prevention Can Barth syndrome be prevented? Barth syndrome is a genetic condition. Since it’s inherited, a child with Barth syndrome has it for life. [my.clevelandclinic.org]