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Unveiling Barth Syndrome: What are some of the lesser-known symptoms that might surprise you?
Barth syndrome (BTHS) is a rare but severe X-linked genetic disease caused primarily by changes in phospholipid structure and metabolism. This disease may affect multiple body systems, with its most notable feature being childhood cardiomyopathy, and its potential lethality cannot be ignored. Through the study of Barth syndrome, we can not only clearly understand its main symptoms, but also reveal many unknown potential symptoms, making many families more alert.
Although not always present, key features of Barth syndrome include cardiomyopathy (dilated or hypertrophic) with concomitant neutropenia, dysplasia, and poor exercise tolerance.
Symptoms of Barth Syndrome
The manifestations of Barth syndrome vary, with the most common symptom being heart muscle damage. It has been revealed that many patients display hypotonia at birth and develop signs of cardiomyopathy within the first few months of life. Furthermore, many patients have a marked slowing of growth during the first year despite normal nutritional intake. As they entered childhood, their height and weight remained significantly below average.
In most patients, intelligence is normal, but a considerable proportion of patients face mild or moderate learning disabilities.
Severity and impact of cardiomyopathy
Cardiomyopathy is a more serious manifestation of Barth syndrome. It is an enlargement of the heart muscle that reduces the contractile pumping ability of the ventricles. Due to myocardial hypertrophy, many patients present with left ventricular hypertrophy. Although cardiomyopathy can be life-threatening, most patients improve after puberty.
Neutropenia, a granulocyte disorder resulting in insufficient neutrophil production, puts patients at increased risk for bacterial infections.
Causes and Genetics
Barth syndrome is mainly caused by mutations in the TAZ gene (tafazzin gene). This gene is active in heart and skeletal muscle, and its product Taz1p plays an important role in complex lipid metabolism as an acyltransferase. Further studies have shown that abnormalities in cardiolipin in this disease are closely related to mitochondrial function.
The X-linked nature of Barth syndrome means that the disease is found predominantly in males, with many females being asymptomatic carriers.
Diagnosis and treatment
Because the clinical manifestations of Barth syndrome are highly variable, early diagnosis is particularly important. Commonly used diagnostic methods include blood tests, urine analysis, cardiac ultrasound, and DNA sequencing to determine the TAZ gene status. There is currently no specific treatment for Barth syndrome, but some symptoms can be successfully managed. Recent clinical trials of AAV9-mediated TAZ gene replacement have shown some promise and may be introduced into the FDA approval process in the future.
The Cardiovascular and Renal Drugs Advisory Committee has approved a proposal for a first-in-class mitochondrial protector, elamipretide, that may be effective for this rare disease in 2024.
Epidemiology and History
To date, Barth syndrome has been primarily diagnosed in males, but cases of female individuals have also been reported in some literature. The discovery of this symptom originated from the research of Dr. Peter Bass in 1983. The attention paid to this disease made people aware of its genetic characteristics and the complexity of the disease.
Such a rare genetic disease, its diversity and severity cause confusion and stress to families. When it comes to Barth syndrome, how can we pay more attention to and understand this disease so that we can provide better support and help to patients and their families?
