Barth syndrome

作者：Sarah L. N. Clarke, Ann Bowron, Iris L. Gonzalez, Sarah Groves, Ruth Newbury‐Ecob, Nicol Clayton, Robin P. Martin, Beverly Tsai‐Goodman, Vanessa Garratt, Michael Ashworth, Valerie M. Bowen, Katherine R. McCurdy, Michaela K. Damin, Carolyn T. Spencer, Matthew J. Toth, Richard I. Kelley, Colin G. Steward · 发表于：Orphanet Journal of Rare Diseases · 年份：2013 · DOI：10.1186/1750-1172-8-23 · 被引用次数：369 · 研究领域：Mitochondrial Function and Pathology、ATP Synthase and ATPases Research、Cardiomyopathy and Myosin Studies

First described in 1983, Barth syndrome (BTHS) is widely regarded 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). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal de...