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