March 2012 Br J Cardiol 2012;19:16 Meeting reportNews and views
March 2012 Br J Cardiol 2012;19:41–5 doi:10.5837/bjc.2012.009 Clinical article
Cristina Golfomitsos, Anshuman Sengupta, Usha Prasad, David Gray
Anderson-Fabry disease is a rare X-linked recessive lysosomal storage disease that may cause a wide range of symptoms affecting multiple systems. It is due to a DNA mutation in the enzyme alpha-galactosidase A; this causes an accumulation of a glycolipid, globotriaosylceramide, within blood vessels, tissues, and organs, impairing their function.
Typically, males experience severe symptoms, but the impact on women is variable, with some being asymptomatic and others having severe symptoms. Although the diagnosis can often be readily made in males by measuring the blood level of alpha-galactosidase activity, in females, gene sequencing is preferred as enzyme activity may be within the normal range. However, the disease may not be suspected as many symptoms are shared with other disease processes. Important clues are multi-system symptoms that vary in age of onset, severity and manner of progression; early onset of kidney failure; and stroke or heart disease in the absence of conventional vascular risk factors. Enzyme replacement therapy is available.
March 2012 Br J Cardiol 2012;19:48–9 doi:10.5837/bjc.2012.011 Clinical article
Claire J Grout, Katherine A Simpson, Michael R Clements
A 57-year-old woman presented with a six-week history of non-productive cough associated with sharp chest pain. Her past medical history included a metallic aortic valve replacement for aortic regurgitation, hypertension and hypercholesterolaemia. The patient had a blood pressure of 97/60 mmHg and was afebrile. On examination, the metallic valve was audible with no added heart sounds. Examination of other systems was normal. Electrocardiogram (ECG) showed a normal sinus rhythm with no ischaemic changes. Admission blood tests showed an elevated white cell count (11.4 x 109 per litre) and a C-reactive protein of 225.8 mg/L. Her chest radiograph demonstrated a widened mediastinum, evidence of previous cardiac surgery and a metallic valve (figure 1). Transthoracic echocardiography showed a dilated aortic root measuring 62 mm at the level of the sinotubular junction. In addition, a thrombus was visualised in the ascending aorta with a dissection flap, which was confirmed by computed tomography (CT) scan (figure 2). The patient was transferred to a cardiothoracic unit to undergo surgical repair of the dissection and replacement of the metallic valve. The dissection was shown to arise from the suture line of the previous valve replacement.
August 2011 Br J Cardiol 2011;18:156–7 News and views
August 2011 Br J Cardiol 2011;18:158–9 Meeting reportNews and views
June 2011 Br J Cardiol 2011;18:138–41 Clinical article
Abdul-Majeed Salmasi, Mark Dancy
Mitral valve stenosis (MS) is attributed mainly to rheumatic fever and may remain unrecognised for several years. Early diagnosis of this lesion is important in order to implement the necessary management when either severe or complicated by atrial fibrillation. However, its incidence in a multi-ethnic community has not yet been recognised. We retrospectively studied 2,099 consecutive subjects for the presence of MS. All the patients were newly referred by general practitioners to a community general cardiology clinic and hypertension clinic in a district of London because of different cardiac symptoms, significant cardiac history or because of uncontrolled hypertension. All the patients underwent echocardiography routinely. Classical clinical signs of MS were present in four patients. Echocardiography showed MS in eight patients, in four of whom the MS was mild, moderate in three and severe in one patient. None of the patients had symptoms related to the MS and all were in sinus rhythm both clinically and during Holter monitoring. Only one patient was Caucasian, two were of Caribbean origin and five were of Indo-Asian origin. Subsequent cardiac catheterisation and mitral valve replacement were successfully carried out in two patients. It is concluded that rheumatic MS is still prevalent in the UK population and is more common in subjects of Indo-Asian origin than either Caucasian or Afro-Caribbean subjects. MS was not recognised by the general practitioners: its diagnosis was only made possible by echocardiography.
April 2011 Br J Cardiol 2011;18:56−8 Editorial
Michael Rayment, Ann K Sullivan
He who knows syphilis knows medicine” said Father of Modern Medicine, Sir William Osler, at the turn of the 20th Century. So common was syphilis in days gone by, all physicians were attuned to its myriad clinical presentations. Indeed, the 19th century saw the development of an entire medical subspecialty – syphilology – devoted to the study of the great imitator, Treponema pallidum. But syphilis to many is a disease of old, consigned to the annals of history by infusions of mercury, arsenical magic bullets, and finally dealt a fatal blow by the advent of penicillin. The case report of a contemporary presentation of syphilitic aortitis by Aman et al. (see pages 94−6) presented in this issue is fascinating, but it seems most remarkable as a strange relic, a throwback to an era of medicine past. Or perhaps it is not.
The UK has seen an explosion in venereal syphilis in the first decade of the 21st century. There were 3,762 diagnoses of early stage ‘infectious syphilis’ (comprising primary, secondary and early latent syphilis) made in 2007, more than in any other year since 1950. The trend has continued unabated with a similar figure seen in 2008 (2009 data are awaited). Between 1997 and 2007, annual diagnoses of infectious syphilis rose more than 1,200% (figure 1).(1)
February 2011 Br J Cardiol 2011;18:s13-s5 Supplement
Current statistics, available from outcomes following the National Service Framework (NSF) on Coronary Heart Disease,1 show that more people are surviving longer both after an acute coronary event and after a symptom-led diagnosis of coronary artery disease. In the past, cardiac rehabilitation (CR) played a key role in preventing premature mortality2 but more recently the greatly enhanced emergency services, better public education and more aggressive and widely available medical interventions may have diminished the effect of CR on premature mortality. There is now an increasing focus on productivity of life in those surviving acute myocardial events. Productivity refers to people’s active involvement in the local social and economic fabric of their families, friends and community. Some of these matters are less likely to be a function of technical medical care but rather a function of healthcare professionals providing therapeutic and health-promoting support for people to manage the physical, mental, domestic, occupational and social aspects of their lives – all of the goals at the heart of a good CR and chronic disease management and prevention programme.
February 2011 Br J Cardiol 2011;18:15-6 News and views
November 2010 Br J Cardiol 2010;17:259-63 News and views