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 |