Table 1.

Clinical signs and symptoms seen in our patients compared with patients reported in literature

Clinical sign or symptom	Estimated frequency in Barth syndrome	P1 at initial presentation	P1 during the disease course	P2 at initial presentation	P2 during the disease course
Cardiomyopathy (any type)	70% in first year (n = NA (Clarke et al. 2013)), 91% (n = 16 (Rigaud et al. 2013)), 94% (n = 73, (Roberts et al. 2012))	−	+	−	−
Delayed motor milestones	61–72% (n = 73 (Roberts et al. 2012))	+	+	+	+
Neutropenia	69% (n = 73 (Roberts et al. 2012)), 73% (n = 16 (Rigaud et al. 2013)), 90% (n = NA (Clarke et al. 2013))	−	−	−	−
3-Methylglutaconic aciduria	50% (n = 16, (Rigaud et al. 2013)), 87% (n = 56 (Wortmann et al. 2013)), 100% (n = 6 (Ferri et al. 2013))	−	+	−	−
Growth delay	50% (n = 16 (Rigaud et al. 2013)), 58% (n = 34 (Spencer et al. 2006))	+	+	+	+