Table 1 Clinical features of Barth syndrome (common features are asterisked)

Cardiovascular

*Dilated Cardiomyopathy (DCM)

*Left Ventricular Non-compaction (LVNC)

*Prolonged corrected QT interval (QTc)

Endocardial Fibroelastosis (EFE)

Ventricular arrhythmia/Sudden cardiac death

Undulating Cardiomyopathy

Hypertrophic Cardiomyopathy (HCM) (rarely)

Neuromuscular

*Delayed motor milestones

*Proximal myopathy

*Abnormal fatigability

*Exercise intolerance

Neurological

*Mild learning disabilities

*Attention deficits

Strokes (cardiac embolic)

Haematological & Infectious

*Neutropenia

*Recurrent aphthous ulcers & sore gums

*Perianal dermatitis

Recurrent bacterial infections

Septicaemia

Endocrine & Metabolic

*3-methylglutaconic aciduria

*Constitutional growth delay with delayed bone age

*Delayed puberty

Hypocholesterolaemia

Hypoglycaemia

Lactic acidosis (often accompanies cardiac failure)

Osteopenia

Gastrointestinal

*Oromotor feeding problems

Episodic or chronic diarrhoea

Dysmorphic features

*Deep set eyes

*Full cheeks

*Prominent ears (older boys)

Fetal

Cardiomyopathy

Fetal hydrops

Male miscarriage and stillbirth