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Kenneson et al. J Transl Genet Genom 2024;8:285-97 https://dx.doi.org/10.20517/jtgg.2024.22 Page 291

Table 6. Visits to specialists in the previous year
Percentage who saw Age of individuals who saw Number of visits in the past year
Specialist specialists in the past year specialists in the past year, among those who saw specialists,
(95%CI) median median (range)
Cardiologist 97.9% (92.6%-99.4%) 13.4 years 3 (1-12+)
Hematologist 58.2% (48.0%-67.8%) 19.6 years 2 (1-12+)
Nutritionist/dietitian 57.2% (46.7%-66.8%) 19.8 years 1 (1-12+)
Metabolic specialist 44.4% (34.6%-54.7%) 21.2 years 1 (1-12+)
Gastroenterologist 27.5% (19.4%-37.4%) 17.4 years 1 (1-4)
Neurologist 24.5% (16.0%-34.0%) 9.2 years 1 (1-6)
Orthopedic specialist 23.0% (16.4%-33.6%) 10.4 years 1 (1-4)
Endocrinologist 20.9% (13.8%-30.3%) 10.6 years 1 (1-4)
Immunologist/allergy 16.8% (10.5%-26.0%) 12.7 years 1 (1-2)
specialist
Hepatologist 3.3% (1.1%-9.2%) 8.5 years 1 (1-2)

Figure 1. Proportion (and 95% confidence intervals) of individuals with BTHS who experience 1A) cardiac, 1B) neutropenia, and 1C) GI
manifestations and use medications for those respective categories (1D-1F) by age group. Cardiac disorder was defined as
cardiomyopathy, cardiac arrest, cardiac failure, or the presence of an implantable device. GI disorder was defined as constipation,
chronic diarrhea, dysphagia, feeding difficulties, or gastroesophageal reflux. BTHS: Barth syndrome; GI: gastrointestinal.

upon previous reports by including evaluations of manifestations by age, descriptions of manifestations that
led to diagnosis, and assessment of levels of healthcare utilization.

Diagnostic odyssey
Our analysis showed similar results to previous studies of individuals with BTHS, wherein cardiomyopathy
began in childhood, with the majority experiencing cardiomyopathy before the age of one year [16,25] . Analysis
of the registry data indicated that diagnostic odysseys were often long, with slightly less than half of
participants receiving a diagnosis within one year of onset of manifestation(s). Although a range of