The formation of Intracardiac thrombi is rare in the absence of structural heart disease or atrial fibrillation. We describe a case of spontaneous right atrial thrombus formation that occurred in a patient with a hypercoagulable condition who had been sub optimally anticoagulated.

Introduction The 2 year results from the Syntax (The Synergy between Percutaneous Coronary Intervention with TAXUS and Cardiac Surgery) study have suggested that percutaneous coronary intervention may be an acceptable alternative to CABG in subjects with a low (<22) and intermediate (23–32) Syntax Score (SS). Patients with a high SS (≥33), however, appear to have a worse outcome with PCI and it has been suggested that surgery should remain the gold standard in this cohort. The Syntax investigators report high reproducibility scores for this tool; however, it would be interesting to know if this consistency of scoring could be reproduced in a real world scenario. This is important, given that some centres are now routinely incorporating the SS into their cardiac MDT decision-making processes. It would also be valuable to know if operator experience significantly affects the reliability of this scoring system. Methods Using a cardiac database, 20 patients with multivessel coronary disease were selected at random for angiographic re-reporting using the SS. Eight middle grade cardiologists of differing levels of experience were asked to independently score these angiograms, after completion of the online teaching module at the http://www.syntaxscore.com Web site. Operators were selected to provide a range of middle grade experience and comprised two groups: four operators with <1000 diagnostic angiograms performed; four operators with >2000 diagnostic angiograms performed. Results The mean time to perform the Syntax score was 9.7±5.4 min and the variation between operators is shown (Abstract 33 Figure 1). The less experienced the operator the higher the Syntax score tended to be (<1000: 34±21 vs >2000: 28±10; p>0.05). Within the group of experienced operators, the correlation coefficient for the SS was stronger (intra-observer correlation coefficient: 0.5 for <1000 and 0.6 for >2000), but there was still little agreement in terms of allocation to the tertiles described in the Syntax trial. In only 15% (3/20) of patients did all four operators score the patient into the same tertile. There was a majority agreement on tertile in a further 20% (4/20), but in the remaining 65% (13/20) no more than two of the four operators agreed on the same tertile of risk. Conclusion There is significant heterogeneity of scoring amongst relatively inexperienced angiographic operators who have been trained using the recommended online Syntax Scoring tutorial. This improved a little with operator experience; however, even experienced operators were unable to consistently score patients into the same tertiles of risk as described in the Syntax trial. Any departments considering using the Syntax score as an integral part of their clinical decision making processes should be aware of the wide variation in scores obtained in this real world sample of cardiac MDT diagnostic angiograms.

Intra-aortic balloon pumping is widely used to augment diastolic coronary perfusion. However, far less is known about its effects on other large arteries. In this study we assessed the effects of intra-arterial balloon pump pressure support on pressure and flow in the proximal aorta, carotid, coronary and renal arteries. Recordings of simultaneous pressure and flow velocity were made using intra-arterial sensor tipped wires. Velocity time integral (VTI) was calculated at each location. With balloon pump support VTI increased in the coronary arteries (458 to 540 cm, 15

Objective: To measure coronary flow reserve (CFR), an index of microvascular function, in Anderson-Fabry disease (AFD) at baseline and after enzyme replacement therapy (ERT).Methods and results: Mean (SD) myocardial blood flow (MBF) at rest and during hyperaemia ( adenosine 140 mg/kg/min) was measured in 10 male, non-smoking patients (53.8 (10.9) years, cholesterol 5.5 (1.3) mmol/l) and in 24 age matched male, non-smoking controls (52.0 (7.6) years, cholesterol 4.5 (0.6) mmol/l) by positron emission tomography ( PET). Resting and hyperaemic MBF and CFR ( hyperaemic/resting MBF) were reduced in patients compared with controls ( 0.99 (0.17) v 1.17 (0.25) ml/g/ min, p< 0.05; 1.37 (0.32) v 3.44 (0.78) ml/g/ min, p< 0.0001; and 1.41 (0.39) v 3.03 (0.85), p< 0.0001, respectively). This coronary microvascular dysfunction was independent of cholesterol concentrations. PET was repeated in five patients after 10.1 (2.3) months of ERT; resting and hyperaemic MBF and CFR were unchanged after ERT ( 0.99 (0.16) v 0.99 ( 0.16) ml/g/ min; 1.56 (0.29) v 1.71 (0.3) ml/g/ min; and 1.6 (0.37) v 1.74 (0.28), respectively; all not significant).Conclusions: The results of the present study show that patients with AFD have very abnormal coronary microvascular function. These preliminary data suggest that ERT has no effect on coronary microvascular dysfunction. Further work is necessary to determine whether treatment at an earlier stage in the course of the disease may improve coronary microvascular function in patients with AFD.

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme alpha-galactosidase A. More than 60% of patients with AFD have evidence for cardiac involvement; the prevalence and clinical significance of arrhythmia in AFD are unknown. Seventy-eight consecutive patients (mean age 43.5 +/- 15.0 years, range 13.0 to 83.0; 43 men) with AFD were studied for 1.9 years (range 0.25 to 10). All patients underwent clinical evaluation, 12-lead electrocardiography, and echocardiography. Sixty patients (76.9%) underwent 24-hour ambulatory electrocardiographic monitoring. Persistent atrial fibrillation (AF) was present in 3 of 78 patients (3.9%); 8 (13.3%) had paroxysmal AF, and 5 (8.3%) had nonsustained ventricular tachycardia (VT). Patients with nonsustained VT were all men, with a maximal left ventricular (LV) wall thickness >20 mm. Age (p <0.001), left atrial diameter (p = 0.001), maximal LV wall thickness (p = 0.003), LV mass index (p = 0.009), and angina (p = 0.02) were univariate predictors of AF or paroxysmal AF. Using these predictors in a stepwise logistic regression analysis model, age was the only independent predictor of AF or paroxysmal AF (odds ratio 1.2, 95% confidence interval 1.1 to 1.3, p = 0.001). During follow-up, there was 1 sudden cardiac death, 4 patients received pacemakers for bradyarrhythmia, and 1 received a biventricular pacemaker and an internal cardioverter defibrillator. In conclusion, arrhythmias are common in older patients with AFD. The high incidence of pacemaker implantation and sudden cardiac death suggests that arrhythmia has a significant impact on the natural history of AFD.

Objectives: To determine the frequency of systolic impairment (SI) and its impact on the natural history of hypertrophic cardiomyopathy (HCM). Methods: 1080 patients (mean (SD) age 43 (15) years, 660 men) with HCM were evaluated. Initial assessment included history, examination, 48 hour Holter monitoring, cardiopulmonary exercise testing, and echocardiography; SI was defined as a fractional shortening (FS) ⩽ 25%. Survival data were collected at clinic visits or by direct communication with patients and their general practitioners. The results of serial echocardiography in 462 patients with normal FS at presentation are also reported. Results: 26 (2.4%) patients (49 (14) years, 18 men) had SI at the initial visit. During follow up (58 (49) months), nine (34.6%) died or underwent cardiac transplantation compared with 108 (10.2%) patients with normal FS (p  =  0.01). Five year survival from death (any cause) or transplantation was 90.1% (95% confidence interval (CI) 87.8 to 92.4) in patients with normal systolic function versus 52.4% (95% CI 25.2 to 79.6, p < 0.0001) in patients with SI. In patients who underwent serial echocardiography, 22 (4.8%, aged 41 (15) years) developed SI over 66 (40) months; the annual incidence of SI was 0.87% (95% CI 0.54 to 1.31). On initial evaluation patients who developed SI had a higher frequency of syncope (67 (15.2%) v 10 (45.5%) of those who did not develop SI, p  =  0.001), non-sustained ventricular tachycardia (91 (20.6%) v 11 (50%), p  =  0.002), and an abnormal blood pressure response on exercise (131 (29.7%) v 15 (68.2%), p  =  0.001). Patients with SI had greater wall thinning (p  =  0.001), left ventricular cavity enlargement (p < 0.0005), and deterioration in New York Heart Association functional class (p  =  0.001) during follow up. Thirteen (59.1%) patients who progressed to SI died or underwent transplantation compared with 38 (8.6%) patients who maintained normal systolic function. Conclusions: SI is an infrequent complication of HCM but, when present, is associated with a poor prognosis.

Anderson-Fabry disease (AFD), an X linked lysosomal storage disorder, results in glycoshingolipid deposition in multiple organ systems, including the heart. Recognised cardiac manifestations include conduction disease, valvar thickening, and left ventricular hypertrophy (LVH).1 Recent studies have shown that enzyme replacement therapy (ERT) reduces left ventricular (LV) mass in patients with AFD.2 It remains uncertain, however, whether LVH is a clinically relevant surrogate marker of disease severity. Weidemann and colleagues2 have shown that tissue Doppler derived strain rate improves during treatment with ERT, suggesting that contractile function is reversibly impaired in AFD cardiomyopathy. To determine the importance of systolic performance in the natural history of AFD we performed a retrospective analysis of an untreated cohort of patients followed for at least one year. Seventy five patients with AFD were evaluated at the Heart Hospital, London between 1 January 1993 and 1 December 2003. Diagnosis of AFD was based on low plasma α-galactosidase A (α-Gal) concentrations and DNA mutational analysis. The mean (SD) follow up from diagnosis of AFD was 5.8 (4.8) years. Twenty four patients had been followed up for more than one year; 12 were receiving ERT at the time of evaluation. The 12 untreated patients (nine male patients, three female patients, mean age 54.5 (12.2) years, range 42–82 …

Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss1 that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases.2 Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complained of palpitations. The aim of this study was to determine the prevalence and nature of cardiac abnormalities in patients with LHON by systematically evaluating cardiac structure and function using echocardiography and adenosine testing. The study population comprised 24 consecutive patients with LHON diagnosed at Queen Square Hospital, London. The diagnosis of LHON was based on characteristic clinical features of the disease and/or the presence of a primary LHON mutation.3 Cardiovascular examination and investigation were performed at St George’s Hospital, London. The investigation was approved by the local research ethics committee. All patients provided written informed consent before participation in the study. Each patient underwent an initial clinical assessment and 12 lead ECG. ECG evidence of left ventricular hypertrophy was defined in accordance with Romhilt-Estes criteria. Ventricular pre-excitation was defined as a PR interval < 120 ms, QRS duration …

Acta PaediatricaVolume 91, Issue s439 p. 128-129 Cardiovascular manifestations in females with Fabry disease B Sachdev, B Sachdev Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this authorL Richfield, L Richfield Department of Haematology, Royal Free Hospital, RF and UCL School of Medicine London UKSearch for more papers by this authorR Thaman, R Thaman Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this authorS Firoozi, S Firoozi Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this authorAB Mehta, AB Mehta Department of Haematology, Royal Free Hospital, RF and UCL School of Medicine London UKSearch for more papers by this authorPM Elliott, PM Elliott Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this author B Sachdev, B Sachdev Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this authorL Richfield, L Richfield Department of Haematology, Royal Free Hospital, RF and UCL School of Medicine London UKSearch for more papers by this authorR Thaman, R Thaman Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this authorS Firoozi, S Firoozi Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this authorAB Mehta, AB Mehta Department of Haematology, Royal Free Hospital, RF and UCL School of Medicine London UKSearch for more papers by this authorPM Elliott, PM Elliott Department of Cardiological sciences St Georges Hospital Medical School, London, UKSearch for more papers by this author First published: 02 January 2007 https://doi.org/10.1111/j.1651-2227.2002.tb03145.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume91, Issues439November 2002Pages 128-129 RelatedInformation

Aims Anderson-Fabry Disease (AFD), an X-linked disorder of sphingolipid metabolism, is a cause of idiopathic left ventricular hypertrophy but the mechanism of hypertrophy is poorly understood. Gadolinium enhanced cardiovascular magnetic resonance can detect focal myocardial fibrosis. We hypothesised that hyperenhancement would be present in AFD.Methods and results Eighteen mates (mean 43 14 years) and eight female hetero-zygotes (mean 48 12 years) with AFD underwent cine and late gadolinium cardiovascular magnetic resonance. Nine mate (50%) had myocardial hyperenhancement ranging from 3.4% to 20.6% (mean 7.7+/-5.7%) of total myocardium; in mates, percentage hyperenhancement related to LV mass index (r=0.78, P=0.0002) but not to ejection fraction or left ventricular volumes. Lesser hyperenhancement was also found in four (50%) heterozygous females (mean 4.6%). In 12 (92%) patients with abnormal gadolinium uptake, hyperenhancement occurred in the basal infero-lateral watt where, unlike myocardial infarction, it was not sub-endocardial. In two mate patients with severe LVH (left ventricular hypertrophy) and systolic impairment there was additional hyperenhancement in other myocardial segments.Conclusion These observations suggests that myocardial fibrosis occurs in AFD and may contribute to the hypertrophy and the natural history of the disease. (C) 2003 The European Society of Cardiology. Published by Elsevier Ltd. All rights reserved.

Numerous studies have shown that biventricular pacing (BVP) improves symptoms and exercise capacity in patients with congestive cardiac failure (CCF) and left bundle branch block (LBBB). The mechanism of symptomatic improvement has been attributed to changes in ventricular synchrony. However, the degree of asynchrony is not a good predictor of response.1,2 The aim of this study was to assess whether the presence of a restrictive mitral filling pattern, previously shown to be a marker for diastolic ventricular interaction (DVI) in patients with CCF,3 might identify a cohort of patients more likely to respond to BVP.

Cardiac abnormalities are common in patients with Fabry disease, and may be the only clinical manifestation of the disease in some patients. At St George's Hospital Medical School, a national referral centre for hypertrophic cardiomyopathy in the UK, a study of 153 consecutively referred male patients revealed that 4% had Fabry disease. This increased to 6% in patients over 40 years of age. All these patients had electrocardiographic (ECG) abnormalities, most of which were consistent with those found in patients with classic Fabry disease: left ventricular hypertrophy, repolarization abnormalities and a prolonged QRS complex. A study of heterozygote females with Fabry disease also showed ECG and echocardiographic abnormalities in most patients.Conclusions: Fabry disease should be considered in the differential diagnosis of otherwise unexplained cardiac disease.

OBJECTIVES:We sought to ascertain the prevalence and mode of expression of familial disease in a consecutive series of patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). BACKGROUND:Autosomal-dominant inheritance is recognized in ARVC. The prevalence and mode of expression of familial disease in consecutive, unselected families is uncertain. METHODS:First- and second-degree relatives of 67 ARVC index patients underwent cardiac evaluation with history and examination, 12-lead and signal-averaged electrocardiogram (ECG), two-dimensional and Doppler echocardiography, metabolic exercise testing and Holter monitoring. Diagnoses were made in accordance with published criteria. RESULTS:Of 298 relatives, 29 (10%; mean age 37.4 +/- 16.4 years) had ARVC. These were from 19 of the 67 families, representing familial involvement in 28%. Of these affected relatives, 72% were asymptomatic, 17% had ventricular tachycardia (sustained VT 10%, nonsustained VT 7%) and 21% had left ventricular involvement. A further 32 relatives (11%; 37.7 +/- 12.4 years) exhibited nondiagnostic ECG, echocardiographic or Holter abnormalities. Fifteen of these relatives were from families with only the proband affected, and inclusion of this subset of relatives would have resulted in familial ARVC in 48% of index cases. Four additional relatives (1% to 3%) fulfilled diagnostic criteria for dilated cardiomyopathy without any features of right ventricular disease. CONCLUSIONS:By using current diagnostic criteria, familial disease was present in 28% of index patients. A further 11% of their relatives had minor cardiac abnormalities, which, in the context of a disease whose mode of inheritance is autosomal dominant, are likely to represent early or mild disease expression. We advocate that the current ARVC diagnostic criteria are modified to reflect the broader spectrum of disease that is observed in family members.