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

From: Barth syndrome

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
Endocrine & Metabolic *3-methylglutaconic aciduria
*Constitutional growth delay with delayed bone age
*Delayed puberty
Lactic acidosis (often accompanies cardiac failure)
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