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Barth Syndrome
BTHS
Presentation
- 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]
- A fever may also be present. Diarrhea and/or constipation. Weak muscle tone may lead to fatigue and difficulty exercising.[news-medical.net]
- Clinical description Clinical presentation is highly variable.[orpha.net]
- The girl presented recurrent episodes of severe acute heart failure, progressive muscle weakness, and had a fatal septic shock at 3 years.[ncbi.nlm.nih.gov]
Gastrointestinal
Feeding Problems in Infancy
- problems in infancy, "picky eating" in children Nutritional deficiencies Trouble paying attention and mild learning disabilities Difficulty with tasks that require visual spatial skills Auditory processing difficulty Recurrent infections Stunted growth[verywellhealth.com]
Jaw & Teeth
Bleeding Gums
- Mouth ulcers, bleeding gums, skin infections, and upper respiratory infections were the most common complications, but pneumonia, sepsis, and more severe infections occurred sporadically.[bloodjournal.org]
Cardiovascular
Palpitations
- Cardiologically, he had never experienced syncope and presented with occasional episodes of chest pain and palpitations.[revespcardiol.org]
- ., palpitations, syncope), abnormal screening tests, or a family history of sudden death.[ncbi.nlm.nih.gov]
Chest Pain
- Cardiologically, he had never experienced syncope and presented with occasional episodes of chest pain and palpitations.[revespcardiol.org]
Face, Head & Neck
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]
- Younger males with Barth syndrome have a characteristic facial gestalt that is most evident during infancy, characterized by a tall and broad forehead, round face, full cheeks, prominent pointed chin, large ears, and deep-set eyes.[ncbi.nlm.nih.gov]
- Young boys with BTHS have consistent facial features with a tall, broad forehead, round face with full cheeks, prominent ears and deep-set eyes.[ncbi.nlm.nih.gov]
Workup
- 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. Blood. 2000 ; 95 : 3032 -3043.[dx.doi.org]
- The reverse is also true: It may be worth adding cardiac evaluation to the workup of the diagnosis of a chronic neutropenia suspected to be congenital.[dx.doi.org]
PR Interval
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]
QT, RR, ST Intervals
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
- 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]
- 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]
- Treatment and Care For patients with a confirmed diagnosis of Barth syndrome, we provide expertise on the various clinical concerns of the disorder and tailor a treatment plan to each patient’s metabolic and physical needs.[kennedykrieger.org]
Prognosis
- 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]
- 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]
- 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]
Etiology
- 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]
- A. 2015 32 Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. ( 26834781 ) Saric A....Petit P.X. 2015 33 Cardiolipin metabolism and its causal role in the etiology[malacards.org]
- 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]
- This mini-review provides an overview of the etiology of BTHS, as well as a description of common clinical phenotypes associated with the disorder.[rarediseasesjournal.com]
Epidemiology
- 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]
- Epidemiology Barth syndrome appears to affect all ethnic groups. Epidemiologists at Johns Hopkins University Medical Center estimate the incidence of this syndrome to be somewhere between 1 in 200,000 to 400,000 births.[medium.com]
- Epidemiology 151 living BTHS patients are known to the BSF worldwide in 2012.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution
Pathophysiology
- 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]
- “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]
- Several model systems for Barth syndrome have been developed to elucidate the disease pathophysiology. Mouse model of Barth syndrome provide new insight into the role of tafazzin.[els.net]
Prevention
- 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]
- 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]
- Preventative daily antibiotics will reduce the risk of bacterial infection if boys are severely neutropenic.[contact.org.uk]
- Treatment is focused on reducing symptoms and preventing complications.[nicklauschildrens.org]
- For example, antibiotics may be provided as a preventive (prophylactic) therapy during neutropenia to prevent the onset of infection.[medium.com]