Clinical articles

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. 

A 47-year-old man with known bicuspid aortic valve was admitted with a six-week history of night sweats and malaise. Clinically, aortic systolic and diastolic murmurs were present. Temperature was 38ºC, white cell count was elevated at 13.8 x 10⁹/L, erythrocyte sedimentation rate (ESR) was 44 mm/hr, and three consecutive blood cultures grew Streptococcus parasanguinis. Transthoracic (TTE), then transoesophageal (TOE) echocardiography was performed.

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. 

The purpose of this review is to give a broad overview of the role of patent foramen ovale (PFO) in disease. The embryological origins of PFO are described before reviewing the different diagnostic modalities available, including transthoracic echocardiography, trans-oesophageal echocardiography and transcranial ultrasound scanning. The role, or proposed role, of PFO in conditions including cryptogenic stroke, decompression sickness and migraine are discussed, as well as different treatment options, including the evidence for closure of PFO. Some of the range of methods and devices used to close PFO are described, as are the possible complications when attempting closure.

Insulin remains an important treatment for patients with type 1 and type 2 diabetes. Insulin is given to patients with type 1 diabetes as a form of hormone replacement therapy to replace the loss of endogenous insulin secretion. Intensive insulin treatment with either continuous subcutaneous insulin infusion or basal–bolus therapy reduces diabetic complications, including macrovascular complications. For patients with type 2 diabetes, insulin therapy is given to try and overcome the combination of insulin resistance and beta-cell dysfunction that are the pathological hallmarks of the disease. There are concerns that weight gain and hypoglycaemia, which are common side-effects of intensive insulin therapy, may reduce or negate direct benefits of controlling hyperglycaemia on macrovascular outcomes. The best insulin regimen for patients with type 2 diabetes is not clear, and treatment should aim to minimise weight gain and the occurrence of hypoglycaemia.

Sonographer- and nurse-led clinics were developed at a cardiothoracic centre and a sonographer-led clinic at a district general hospital (DGH). Common database fields were adopted in 2007 and this is an audit over the subsequent two years. Data were analysed for the two-year period from 1 September 2007 to 31 August 2009. A total of 683 visits by 388 patients occurred at the cardiothoracic centre and 1,306 visits by 726 patients at the DGH. There were no unexpected adverse events. Cross-referral to a cardiologist occurred in 13% of visits at the cardiac centre and 11.5% at the DGH. The mortality rates were 2% and 3%, the discharge rates 6% and 2%, and the surgical rates 16% and 4% at the cardiac centre and the DGH, respectively. No unexpected events occurred.

Our observations suggest that devolved surveillance clinics are feasible, safe and generalisable as part of a specialist valve service.

Alcohol septal ablation (ASA) is an alternative therapeutic method to the gold-standard surgical myectomy in the treatment of symptomatic left ventricular outflow tract (LVOT) obstruction in patients with hypertrophic cardiomyopathy (HCM). ASA is performed by injecting alcohol into the target septal branch of the left anterior descending coronary artery. In this article, we review the rationale and indications for ASA, provide a practical description of the technique and give an overview of the published data placing it in context with the surgical approach. We also report our experience of the technique in a typical sample of patients referred to a tertiary centre providing demographic, echocardiographic and clinical outcomes data during an average follow-up period of three years. Our data confirm that ASA is an effective non-surgical technique for treatment of symptoms related to LVOT obstruction in HCM. Medium-term follow-up demonstrates persistent reduction in LVOT obstruction and improvement in New York Heart Association (NYHA) functional class. Long-term studies of larger populations are necessary to determine the wider prognostic significance of the procedure.

In order to determine the taking of regular aspirin within a representative community sample of adults residing in the south Wales county of Caerphilly, we conducted a survey of a sample 9,551 adults resident in the county aged ≥18 years.

Questionnaires were returned by 4,558 individuals aged between 25 and 82 years. Nearly 12% of the respondents reported a previous vascular event. Of these, 68% of the men and 55% of the women stated that they took aspirin regularly. Among those with no previous vascular event, 22% of the men and 13% of the women stated that they took aspirin regularly. For those over 50 years of age, the respective figures were 28% of men and 19% of women. Of those taking aspirin, 47% stated that they took 300 mg tablets. There was a small inverse relationship found between aspirin taking and social class, namely 67% and 56% in the manual and non-manual classes respectively. 

The prevalence of prophylactic aspirin taking by persons who have had a vascular event should be increased, particularly in women. Knowledge of the benefits and the risks of aspirin prophylaxis could be promoted through the community and there should be ongoing monitoring of aspirin taking. 

Platelet activation is an important part of the pathophysiology of acute coronary syndromes. Inhibition of this by antiplatelet agents forms an important part of the management of this condition. Recently, there has been considerable interest in the variability of platelet response to these drugs and the need to tailor the dose of antiplatelet agents according to the response. 

Here, we present a patient who had repeated episodes of stent thrombosis and was found to have decreased response to clopidogrel and aspirin (clopidogrel and aspirin resistance) with the use of the Accumetrics VerifyNowTM analyser. We have also reviewed the literature on this subject.

Our recommendation is that patients who have recurrent stent thrombosis or thrombotic events on dual antiplatelet agents should have their antiplatelet therapy response checked and have their antiplatelet agents tailored accordingly. 

A 27-year-old Arab woman with history of seronegative rheumatoid arthritis for four years presented with a three-day history of multiple joint pains and swelling, along with fever. Clinically, she had bilateral rheumatoid hand deformities with signs of active arthritis of elbows, hands and knee joints. She was in sinus rhythm with normal cardiac examination. She was treated with steroids and was responding well except for mild fever, for which an echocardiogram was requested to rule out infective endocarditis.