Accuracy of systolic aortic regurgitation in the diagnosis of heart failure: a predictive approach.

BACKGROUND: Systolic aortic regurgitation (SAR) is a curious phenomenon that has been found to be associated with heart failure (HF). We aimed to determine de diagnostic value of SAR as a black box predictive tool in patients with suspected HF admitted to hospital with dyspnea as leading symptom. METHODS AND RESULTS: Cross-sectional study including 269 consecutive patients admitted to hospital with dyspnea as leading symptom without definite clinical diagnosis. SAR was defined by echocardiography as the presence of blood flow from the aorta to the left ventricular outflow tract during a complete systole. The reference standard was the presence of HF diagnosis at discharge. SAR was present in 9 (3.3%) patients. Prevalence of HF was 40.3%. Specificity of SAR in the diagnosis of HF was high at 99.4% (95% CI 96.5-99.9%). Sensitivity was 7.5% (95% CI 3.9-14.2%). Positive predictive value (PPV) was 88.9% (95% CI 56.5-98.0%). Positive likelihood ratio was 11.85. Estimated PPV of SAR was significantly higher than 50% for any hypothetical prevalence of HF. CONCLUSION: In patients admitted to hospital with dyspnea, the finding of systolic aortic regurgitation in echocardiography has a high PPV for HF diagnosis at discharge.

Prognostic value of two polymorphisms in non-sarcomeric genes for the development of atrial fibrillation in patients with hypertrophic cardiomyopathy.

BACKGROUND: Several non-sarcomeric genes have been postulated to act as modifiers in the phenotypic manifestations of hypertrophic cardiomyopathy (HCM). The development of atrial fibrillation (AF) in HCM has adverse prognostic implications with increased thromboembolism and functional class impairment. AIM: We tested the hypothesis that 2 non-sarcomeric genes [CYP11B2 (-344T>C) and COL1A1 (2046G>T)] are associated with the development of AF. DESIGN: Prospective study. METHODS: Two polymorphisms in non-sarcomeric genes [CYP11B2 (-344T>C) and COL1A1 (2046G>T)] were analysed in 159 HCM patients (49.3 ± 14.9 years, 70.6% male) and 136 controls. All subjects were clinically stable and in sinus rhythm at entry in the study, without ischemic heart disease or other significant co-morbidities that could mask the effect of the analysed polymorphisms (i.e. previous AF). Thirty-nine patients (24.4%) developed AF during a median follow-up of 49.5 months. RESULTS: Patients with the -344T>C polymorphism in CYP11B2 gene had a higher risk for AF development [HR: 3.31 (95% CI 1.29-8.50); P = 0.008]. In a multivariate analysis, the presence of the C allele in CYP11B2 gene [HR: 3.02 (1.01-8.99); P = 0.047], previous AF [HR: 2.81 (1.09-7.23); P = 0.033] and a left atrial diameter of ≥42 mm [HR: 2.69 (1.01-7.18); P = 0.048] were independent predictors of AF development. The presence of the polymorphic allele was associated with higher aldosterone serum levels. CONCLUSION: We have shown for the first time that the CYP11B2 polymorphism is an independent predictor for AF development in HCM patients. This highlights the importance of non-sarcomeric genes in the phenotypic heterogeneity of HCM. The association with higher aldosterone serum levels could relate to greater fibrosis and cardiac remodelling.

Enzyme replacement therapy in Fabry disease: influence on cardiac manifestations.

Fabry disease (FD) is an X-linked glycosphingolipid storage disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. This leads to a progressive accumulation of globotriaosylceramide (Gb3) in the lysosomes of different cells and tissues, causing principally ventricular hypertrophy, renal failure and cerebrovascular accidents, reducing lifespan both in hemizygous males and heterozygous females. Residual enzyme activity might lead to slow progression of the disease and result in the so-called cardiac or renal variants with delayed presentation. Two different forms of alpha-galactosidase A enzyme replacement therapies (ERT) are available for the treatment of FD, one genetically engineered in human cell line (agalsidase alfa, Replagal, Shire) and the other produced in a Chinese hamster ovary cell line (agalsidase beta, Fabrazyme, Genzyme). Although both proteins are structurally and functionally very similar, with the same amino acid sequence as the native human enzyme, they differ in the pattern of glycosilation of the protein depending on the originating cell line. Studies with both preparations have described a reduction in plasma, urinary sediment and tissue levels of Gb3, a decrease in the frequency of pain crisis and a reduction in left ventricular mass and improvement or stabilization of renal function. Studies have generally shown the greatest benefit when treatment is started at an early stage of the disease before extensive fibrosis or other irreversible tissue damage takes place. However, more data are needed to document long-term treatment outcomes. The aim of the present review is to provide an update overview of the two different forms of ERT for FD, their clinical effects in cardiac manifestations and their possible differences in terms of efficacy, side effects and safety profiles.

Left atrial remodelling in hypertrophic cardiomyopathy: relation with exercise capacity and biochemical markers of tissue strain and remodelling.

BACKGROUND: Left atrial remodelling, assessed as left atrial volume (LAV), has been proposed as a good marker of left ventricular diastolic dysfunction. The aim of this study was to analyse the influence of LAV on exercise performance in hypertrophic cardiomyopathy (HCM), and in a subset of subjects, assess the relation of LAV and exercise performance to four biomarkers of disease pathophysiology: matrix metalloproteinase-2 (MMP-2) and tissue inhibitor of matrix metalloproteinase-1 (TIMP-1) (as indices of tissue remodelling), N-terminal portion of pro B-type natriuretic peptide (NT-pro-BNP) (associated with ventricular dysfunction) and C-reactive protein (CRP, an index of inflammation). METHODS: We studied 75 consecutive HCM patients (aged 46 +/- 14 years, 56 men) where LAV was calculated assuming the ellipsoid model with two orthogonal planes. LAV was indexed to body surface area. Exercise capacity was evaluated by treadmill exercise test (symptom limited) and assessed with metabolic equivalent units (MET). Basal NT-pro-BNP and CRP levels were measured in 70 patients, whereas MMP-2 and TIMP-1 in 43 patients. RESULTS: Enlarged LAV was observed in those patients with previous atrial fibrillation (p = 0.016). Mean LAV was greater in patients with impaired functional New York Heart Association (NYHA) class (p < 0.001). LAV correlated with age (Spearman, r: 0.28), higher maximal left ventricular wall thickness (r: 0.32) and raised E/A ratio (r: 0.37) (all p < 0.01). LAV was significantly correlated with NT-pro-BNP values (r: 0.34; p = 0.04), MMP-2 (r: 0.32; p = 0.034), CRP (r: 0.33; p = 0.005) and correlated inversely with MET units (r: -0.39; p < 0.01). In multivariate analysis, MET units were only associated with NT-pro-BNP (p = 0.002) and LAV (p = 0.010). CONCLUSIONS: Enlarged LAV is associated with impaired functional NYHA class and inversely with treadmill exercise capacity. Enlarged LAV is also associated with NT-pro-BNP, MMP-2 and CRP, perhaps as markers of disease severity and tissue remodelling. Age, LAV and NT-pro-BNP are independent predictors of exercise performance.

[Ophthalmological manifestations in Fabry's disease. Four clinical cases showing deficient alpha-galactosidase-A activity]. / Manifestaciones oftalmológicas en la enfermedad de Fabry. A propósito de 4 casos con actividad deficiente de a-galactosidasa A.

CASE REPORT: Fabry's disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view. DISCUSSION: Fabry's disease is uncommon and shows variable ophthalmologic affectation. Some patients with Fabry's disease do not present ocular affectation, while, on the other hand, healthy carriers with important ocular alterations have been described. The deposit of glycosphingolipids produces affectation at the corneal, crystalline, vascular and retinal levels. The vascular alterations affect not only the veins but also the arteries, as we report in our patients.

[Pacemaker lead endocarditis: analysis of 11 cases]. / Endocarditis por cable de marcapaso: análisis de 11 casos.

BACKGROUND: The prevalence of infection of permanent pacemaker ranges from 0.13 to 19.9%. Our objective is to review our experience and to analyze the epidemiology and treatment of those diagnosed as having pacemaker lead endocarditis. METHODS: A retrospective study include all cases diagnosis of pacemaker endocarditis in our hospital, since 1991 to 1998. Eleven patients with pacemaker endocarditis were included. RESULTS: Eleven patients were admitted for endocarditis related to pacemaker-lead infection. Fever occurred in nine patients (81.8%). A germ was isolated in nine patients (81.8%) and was a Staphylococcus in eight (88.9%). Transthoracic echocardiography demonstrated vegetations in only two patients (18.2%), whereas transesophageal echocardiography disclosed abnormal appearances on the pacemaker lead in eleven patients (100%). Six patients were treated with antibiotics initially and four patients required the removal of the whole infected material after finishing treatment with antibiotic. Five patients were treated since the beginning with a electrode removal who responded favorably. CONCLUSIONS: The diagnosis of endocarditis related to pacemaker infection should be suspected in the presence of fever and patient with pacemaker. Transesophageal echocardiography should be performed to look for vegetations. S. aureus and S. epidermidis are involved in the majority of these infections. The best treatment is an immediate removal of the entire pacing system and antimicrobial therapy.

[Guidelines of the Spanish Society of Cardiology for clinical practice in exercise testing]. / Guías de práctica clínica de la Sociedad Española de Cardiología en pruebas de esfuerzo.

Most exercise testing is performed in adults with known or suspected ischemic heart disease. In the last few years cardiac imaging techniques have been applied in this field, improving the information obtained with the procedure. However, the exceptions to this rule are emerging rapidly not only in healthy people (asymptomatic individuals, athletes, handicapped people) but also in cardiac patients (advanced congestive heart failure, hypertension, rhythm disorders, congenital heart disease, etc.). All the-se issues justify the need for a multidisciplinary consensus document in Spain. This paper reviews and updates the methodological aspects of the stress test, including those related to oxygen consumption measurements. The main aim of this review was to determine the role of exercise testing in the evaluation of ischemic heart disease as well as the applications of imaging stress testing. The usefulness of this test in other non-ischemic cardiac disorders and in selected subsets of healthy people is also reviewed.

[Isotopic ventriculography in patients with obstructive hypertrophic cardiomyopathy treated with dual chamber stimulation]. / Ventriculografía isotópica en pacientes con miocardiopatía hipertrófica obstructiva tratados con estimulación bicameral.

BACKGROUND: Dual pacing stimulation improves symptoms and reduces intraventricular pressure gradient in obstructive hypertrophic cardiomyopathy. The mechanisms proposed for these effects are a change in ventricular contraction sequence, a paradoxical movement of the interventricular septum and a reduction in ventricular contractility. However, dual chambers pacing stimulation effects on systolic and diastolic function are unknown, and the study of this is the aim of this work. PATIENTS AND METHODS: We performed a radionuclide ventriculography in 10 patients with obstructive hypertrophic cardiomyopathy at 2 days and 1 and 6 months after placing a dual chamber pacemaker. The phase images, ventricular volumes, left ventricular ejection fraction and segmentary contractility were evaluated. Diastolic maximum peak-filling-rate and time to-peak-filling-rate were also studied. RESULTS: In DDD pacing stimulation, parametric phase images show a reversal up-down contraction sequence starting from the apical segment. At 6 months radionuclide ventriculography, a reduction in ejection fraction was found (60.9 +/- 12 vs 73.4 +/- 9.1; p < 0.05) which was attributed to apical, apical-septum and mainly basal-septum segmentary contraction decrease. A paradoxical mid-systolic septum movement was also found during DDD stimulation. No differences on diastolic parameters were noted. CONCLUSION: During dual chamber stimulation, a reversal ventricular contraction sequence, a paradoxical septum movement, hypokinesis of the septal ventricular segments and a reduction on left ventricular ejection fraction was observed.

[Is the predischarge exercise test valid in patients younger than 40 years old after myocardial infarct for determination of multivascular disease?]. / Es válida la prueba de esfuerzo precoz en pacientes jóvenes menores de 40 años tras infarto de miocardio para la determinación de enfermedad multivaso?

BACKGROUND AND OBJECTIVES: Conventional exercise testing before hospital discharge is the most useful procedure in order to estimate postinfarction prognosis and in detecting multivessel coronary disease which is associated with a poor long-term prognosis. There are no bibliographic reports about it in younger myocardial infarction survivors. The aim of the study was to evaluate sensitivity, specificity and predictive value of symptoms limited maximal exercise testing for multivessel disease diagnosis in young patients after myocardial infarction. METHODS: Myocardial infarction survivors until the age of 40 performed symptoms limited maximal exercise testing and had a coronary arteriography before hospital discharge. RESULTS: A total of 100 consecutive patients were included, although in only 83 of them exercise tests and coronariographic studies were done. In this group, multivessel disease was confirmed in 27 patients (15 with positive tests and 12 with normal exercise testing). In the remaining 56 young adults without multivessel involvement, positive tests were only observed in 15 patients and normal tests in 45. Thus, a sensitivity of 56%, specificity of 73%, positive predictive value of 50% and negative predictive value of 77% were found. When patients showed high risk exercise test criteria, the exercise test positive predictive value increased to 80%. CONCLUSIONS: Due to the lower sensitivity of this test in young myocardial infarction survivors for detecting multivessel artery disease, we remark on the need for predischarge complementary tests such as isotopic, stress echocardiography or coronariography testing.

Ventricular function during liver reperfusion in hepatic transplantation. A transesophageal echocardiographic study.

Postreperfusion syndrome (PRS) is the most dramatic and acute hemodynamic alteration that occurs in OLT. Our aim was to determine heart function by hemodynamic monitoring and transesophageal echocardiography during PRS. We studied 24 nonconsecutive patients allocated to 2 groups: group A (n = 8), patients with PRS, and group B (n = 16), patients without PRS. Usual hemodynamic data were obtained simultaneously with transesophageal echocardiography recording of the left ventricular imaging in 4 different stages: after induction of anesthesia, 5 min before the end of the anhepatic phase, between 2 and 5 min after reperfusion, and 5 min after graft reperfusion. The hemodynamic and echocardiographic findings during reperfusion were (group A vs. group B patients): mean arterial pressure, 50.0 +/- 15.2 vs. 74.7 +/- 13.9 mmHg (P < 0.01); pulmonary capillary wedge pressure, 12.7 +/- 6.1 vs. 13.9 +/- 5.7 mmHg (NS); left ventricular ejection fraction, 79.6 +/- 9.3 vs. 83.4 +/- 9.4% (NS); left ventricular end diastolic volume index, 35.5 +/- 12.7 vs. 54.7 +/- 21.3 ml/m2 (P < 0.05); and stroke volume index, 27.9 +/- 8.9 vs. 45.5 +/- 15.9 ml/m2 (P < 0.01). There was a mild decrease in left ventricular compliance in group A. We found no alteration in left ventricular function that can justify PRS. The hemodynamic changes during PRS seemed to be caused by an insufficient increase in preload after unclamping.

Early and late exercise testing. Usefulness after percutaneous transluminal coronary angioplasty.

Seventy-five patients 36 to 68 years of age were studied after undergoing successful single-vessel percutaneous transluminal coronary angioplasty (PTCA). In all cases exercise tests (ETs) were made prior to the procedure and 2 to 4 days and 6 months thereafter. Angiographic controls were performed on patients with positive ET. Both early and late ET carried out after dilatation lasted significantly longer. Patients were able to tolerate greater work loads and their heart rates and arterial blood pressures also were higher. The ETs conducted prior to PTCA were positive in 62 patients. After dilatation, the early test was positive in 18 and the late test, in 10. Angiographic controls revealed restenosis in 75 percent of patients with single-vessel disease and positive ET. Thus, the results of ETs in patients with single-vessel disease tend to become negative after successful PTCA. Early and late positive ETs are associated with restenosis, while negative ETs indicate a good prognosis.

[Malignant vasovagal syncope: its diagnosis and therapeutic trial based on the orthostatism test (the tilt-table test)]. / Síncope vasovagal maligno: diagnóstico y ensayo terapéutico basado en el test de ortostatismo (test de TILT).

Seventy consecutive patients with recurrent unexplained syncope were evaluated by use of an up-right tilt-table test for 45 minutes (with or without an infusion of isoproterenol) in an attempt to reproduce symptoms. There were 42 males and 28 females with a mean age of 49 +/- 20 years (range 7-86), and with a mean symptoms duration of 35.2 +/- 16 months. All the patients underwent clinical examination which includes cardiological and neurological evaluation. Some tilt positive patients received therapy with either transdermal scopolamine, metoprolol or clonidine, the efficacy of which was evaluated by another tilt-table test. Syncope occurred in sixteen patients (22.9%), during the baseline tilt associated with hypotension (2 patients), bradycardia-asystolia (3 patients), or both (11 patients). In 11 patients with normal baseline tilt test, isoproterenol infusion was used appearing 4 new cases of abnormal response. Some patients who had positive test results, eventually became tilt-table negative by therapy (5 out of 8 patients treated with scopolamine, 5 out of 6 patients with metoprolol, and 3 out of 5 patients with clonidine). Time before syncope during tilt-test was increased with therapy, being of 45 min in normalized cases, and increasing from 11.9 +/- 16 basal to 34.4 +/- 17 min with scopolamine (p < 0.05), to 40 +/- 12 min with metoprolol (p < 0.05) and to 33.7 +/- 16.7 min with clonidine (p = NS). We conclude that upright tilt-table alone or combined with isoproterenol infusion is an useful test in the diagnosis of vasovagal syncope and in the evaluation of therapy.

[Lipomatous hypertrophy of the interauricular septum: diagnosis with transesophageal echocardiography and computerized tomography]. / Hipertrofia lipomatosa del tabique interauricular: diagnóstico mediante ecocardiografía transesofágica y tomografía computadorizada.

Transesophageal echocardiographic and computed tomographic imaging in a patient with lipomatous hypertrophy of the interatrial septum and advanced left bundle branch block are presented. Transesophageal echocardiography demonstrated a thickening of the atrial septum sparing the fossa ovalis region. Computed tomographic scan at the level of the interatrial septum showed a mass of fat density, and the HIS bundle electrogram showed an advanced infra-his block after intravenous ajmaline. We stress the utility of transesophageal echocardiography in this disorder, and the possible relationship between lipomatous hypertrophy of the interatrial septum and conduction disturbances.

[Hypertrophic myocardiopathy (I). The clinical and echocardiographic characteristics of a population of 72 patients]. / Miocardiopatía hipertrófica (I). Características clínicas y ecocardiográficas en una población de 72 pacientes.

The results of the echocardiographic evaluation of 72 patients with hypertrophic cardiomyopathy are presented. We have measured left ventricular wall thickness in 8 different segments and classified our patients in 6 types according to the hypertrophy extent. Moreover, we have evaluated by Doppler ultrasound the presence and severity of mitral regurgitation and the left ventricular inflow and outflow. The hypertrophy cardiomyopathy pattern was symmetric in 8 patients, apical in five, and asymmetric in 31. According to Maron classification, asymmetric cardiomyopathy was I type: 4 patients, II type: 16, III type: 11, and IV type: 0 patients. There were left ventricular outflow obstruction (greater than 25 mmHg) in 26 patients (36.1%). This obstruction was more frequent in II and III type hypertrophic cardiomyopathy and we found significative relationship between septal posterior segment hypertrophy and left ventricular outflow obstruction. Ventricular inflow showed bad distensibility pattern in 45 patients (62.5%). Mitral regurgitation was mild, moderate and severe in 25, 15, and 4 patients. Left ventricular outflow obstruction, bad distensibility pattern and mitral regurgitation were independent each other.