Table 2 Participants’ self-reported BTHS sign/symptom and impact experiences
Participant and current work status | Age at symptom onset | Initial signs/symptoms | Current signs/symptoms | Impact domains reported |
|---|---|---|---|---|
Participant 01 Unemployed and disability | Under 6 years old | • Cardiovascular (enlarged heart) • Tiredness • Muscle weakness | • Cardiovascular (fast heart rate) • Tiredness • Muscle weakness • Shortness of breath | • Emotional • Work/school • Physical • Family • Social • Role function • Financial • Activities of daily living • Leisure |
Participant 02 Part-time employment | Unknown | • Cardiovascular (fast heart rate) | • No current symptoms reported | • Emotional • Work/school • Family |
Participant 03 Full-time employment | Under 6 years old | • Cardiovascular (described as fluid in heart, likely pericardial effusion) • Tiredness | • No current symptoms reported | • Emotional • Family |
Participant 04 Part-time employment and volunteer work | Under 6 years old | • Tiredness • Muscle weakness • Short stature • Impaired immune system • Overweight • Difficulty eating • Difficulty concentrating | • Tiredness • Muscle weakness • Impaired immune system • Difficulty eating | • Emotional • Work/school • Physical • Social • Role function • Activities of daily living |
Participant 05 Disability | Under 6 years old | • Tiredness • Muscle weakness • Short stature • Sensitivity to temperature • Enlarged cheeks | • Cardiovascular • Tiredness • Muscle weakness • Muscle pain • Sensitivity to temperature | • Emotional • Work/school • Physical |
Participant 06 Disability | 18 years or older | • Tiredness • Muscle weakness • Short stature • Difficulty eating | • Cardiovascular (fast heart rate, fluid around heart, likely pericardial effusion) • Tiredness • Muscle weakness • Short stature • Difficulty eating | • Emotional • Work/school • Physical • Family • Social • Role function • Leisure |
Participant 07 Working full-time | Under 6 years old | • Tiredness • Muscle weakness • Short stature • Impaired immune system • Overweight • Impaired gait | • Cardiovascular (irregular heart rate) • Tiredness • Muscle weakness • Muscle pain • Dizziness • Impaired gait | • Emotional • Work/school • Physical • Social • Financial |