Thelansis

  Barth syndrome (BTHS) is widely recognised as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia, and increased urinary excretion of 3- methylglutaconic acid (3-MGCA). Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), left ventricular non-compaction (LVNC), endocardial fibroelastosis (EFE), hypertrophic cardiomyopathy (HCM), ventricular arrhythmia, sudden cardiac death, neutropenia (absent to severe; persistent, delayed motor milestones, proximal myopathy, lethargy and fatigue, prolonged QTc interval, failure to thrive, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, feeding problems, growth and pubertal delay, lactic acidosis, intermittent or perfectly cyclical), episodic diarrhoea, characteristic facies, and X-linked family history. The mean age at diagnosis of BTHS was 4 to 5 years, although the age of onset of symptoms wa...