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Table 2 Clinical indications for exclusion of BTHS

From: Barth syndrome

Recommendations for exclusion of BTHS Clinical scenario
Consider routinely · Fetal Cardiomyopathy
· Male children with DCM ± EFE, especially those with neonatal / infantile onset
· X-linked cardiomyopathy of any type (DCM, LVNC, HCM)
· Cardiomyopathy with LVNC or LV modeling defects
· Cardiac arrest / cardiac arrhythmia with echocardiographic abnormality consistent with BTHS
Consider with relevant accompanying features e.g. X-linked family history, growth failure, feeding problems, delayed motor milestones, lethargy/easy fatigue: · Multiple male miscarriages / stillbirths / unexplained deaths
· Neonatal / infantile hypoglycaemia / lactic acidosis
· Viral cardiomyopathy
· Unexplained neutropenia, mitochondrial disease or proximal myopathy
· Serious unexplained bacterial sepsis
· Severe feeding problems, persistent episodes of vomiting / diarrhoea
· Growth failure / delayed puberty / delayed bone age
  · Unexplained ventricular arrhythmia or prolonged QTc interval