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The Secret of Barth Syndrome: How This Rare Genetic Disease Affects Men's Heart Health?
Barth Syndrome (BTHS) is a rare and serious X-linked genetic disorder that mainly affects males. The disease is caused by changes in phospholipid structure and metabolism, affects multiple body systems, and is primarily characterized by childhood cardiomyopathy. The disease's potential fatality and diagnosis almost exclusively in men have brought Barth syndrome to widespread attention in the medical community.
Manifestations of Barth syndrome
Although not everyone develops it, typical features of Barth syndrome include:
Cardiomyopathy (dilated or hypertrophic, possibly with left ventricular noncompaction and/or endocardial fibroelastosis), neutropenia, muscle hypoplasia and weakness, growth retardation, exercise intolerance , cardiac lipid abnormalities, and 3-methylglutaric aciduria.
The symptoms of Barth syndrome vary at birth. Most patients present with hypotonia at birth and show signs of cardiomyopathy within the first few months of life; despite adequate nutrition, growth is slowed during the first year. As childhood progresses, the patient's height and weight become significantly below average.
Many patients have normal intelligence, but a significant proportion exhibit mild or moderate learning disabilities. Physical activity is also limited due to poor muscle development and low muscle tone.
Causes of Barth Syndrome
Barth syndrome is mainly caused by mutations in the taffazin gene (TAZ). This gene is highly expressed in heart and skeletal muscle, and its product Taz1p plays an important role in complex lipid metabolism. All types of mutations associated with Barth syndrome, including missense mutations, nonsense mutations, deletions, frameshifts, and/or splice mutations, are strongly associated with the disease.
In 2008, Dr. Kulik discovered that all patients with Barth syndrome tested had abnormalities in cardiac lipids, an abnormality closely related to the energy production process within the mitochondria.
Diagnosis of Barth syndrome
Although early diagnosis is important, it is actually quite complex. The clinical manifestations of Barth syndrome are highly variable, with an early-onset, overt cardiomyopathy common to most patients. Diagnosis usually relies on several tests, including blood tests (to check for neutropenia, white blood cell count), urinalysis (to check for levels of organic acids in the urine), echocardiography (to assess heart structure, function and condition), and genetic sequencing to confirm TAZ gene status.
Treatment of Barth syndrome
There is currently no treatment for Barth syndrome, although some symptoms can be successfully managed. Clinical trials are still ongoing, including, for example, preliminary research from the University of Florida showing AAV9-mediated TAZ gene replacement therapy as a potential treatment option.
In 2024, the Cardiovascular and Renal Drugs Advisory Committee voted 10 to 6 that elamipretide is effective in this rare disease. This drug is proposed as a first-in-class mitochondrial protectant with the potential to improve mitochondrial function in patients with cardiac lipid deficiency.
Epidemiology of Barth syndrome
Since Barth syndrome is X-linked, currently the main patients diagnosed are males. According to reports, the incidence of Barth syndrome is approximately one in every 450,000 people. Patients are relatively evenly distributed around the world, with cases seen on all continents, including the United States, Canada, Europe, Japan, South Africa, Kuwait, and Australia.
History of Barth Syndrome
The syndrome is named after the Dutch pediatric neurologist Dr. Peter Barth, who discovered and conducted related research in 1983, which led the industry to realize that the disease is a genetic trait rather than an infectious disease.
Research on Barth syndrome continues, and more understanding will help improve its diagnosis and treatment. How can we increase public awareness and concern about this rare disease?
