Barth syndrome.

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 death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood.

It has certainly been good just to talk: an interpretative phenomenological analysis of coping with myocardial infarction.

OBJECTIVES: The experience of a myocardial infarction (MI), its potential meaning and consequences arouse a high level of emotional responsiveness in the individual. Researchers to date have argued that implementing adaptive coping strategies is necessary for emotional adjustment. This study aimed to advance coping research by providing more detailed insight into middle-aged men's personal experiences of coping with MI and the meaning they ascribe to these experiences. DESIGN: Interpretative Phenomenological Analysis (IPA) was used to conduct an in-depth study of a small sample of patients who had suffered their first MI. METHOD: Semi-structured interviews were conducted with six men within 6 months of their first MI. Verbatim transcripts of these interviews were analysed using IPA. RESULTS: Three superordinate themes emerged, which are described under the headings of 'Difficulty in Reflecting', 'Needing to Talk' and 'Back to Normal'. CONCLUSIONS: Participants seemed to share difficulties in reflecting on their coping strategies and the concept of coping generally, but were keen to talk about specific events in relation to the MI. The findings suggest that cardiac rehabilitation needs to focus on individual priorities for recovery. Providing opportunities for patients to talk through their experiences individually may be an important aspect of such care. Further research is needed to investigate the challenges that patients confront and the support they require post-MI.