Daniel Saura

Registro Español del Síndrome Aórtico Agudo (RESA). La mejora en el diagnóstico no se refleja en la reducción de la mortalidad

Introduccion y objetivos El sindrome aortico agudo (SAA) tiene una alta mortalidad que obliga a un diagnostico y un tratamiento precoces. El Registro Espanol del Sindrome Aortico Agudo (RESA) pretende valorar los resultados actuales en el manejo del SAA en una amplia cohorte de hospitales terciarios de nuestro pais. Metodos Desde enero de 2005 hasta diciembre de 2007, 24 hospitales terciarios incluyeron a 519 pacientes con SAA (el 78% varones; media de edad, 61xa0±xa013 [intervalo, 20-92] anos), 357 de tipo A y 162 de tipo B. Resultados El intervalo entre los sintomas y el diagnostico fue xa072xa0h en el 11%. El 80% de los SAA de tipo A fueron tratados quirurgicamente. El intervalo entre el diagnostico y la cirugia fue Conclusiones A pesar de los importantes avances en el diagnostico del SAA, la mortalidad hospitalaria es elevada. Los resultados de este estudio representan una aproximacion mas general y no seleccionada del manejo de esta afeccion y respaldan la necesidad de continuar mejorando la estrategia terapeutica del SAA.

Real-time three-dimensional transoesophageal echocardiography in the assessment of aortic valve stenosis

AIMSnTo determine the feasibility of real-time three-dimensional transoesophageal echocardiography (3D-TOE) in the evaluation of aortic valve stenosis, to study its reliability, and to test the concordance of this new method when compared with transthoracic two-dimensional echocardiography (2D-TTE) as the diagnostic standard.nnnMETHODS AND RESULTSnFifty-nine consecutive patients with moderate-to-severe aortic valve stenosis were assessed by means of 2D-TTE and 3D-TOE by independent blinded observers. Aortic valve planimetry was possible in 94.9% of patients. Inter-observer intraclass correlation coefficients (ICC) were 0.892 (CI 95% 0.818-0.936; P < 0.001), and 0.871 (CI 95% 0.780-0.925; P < 0.001) for 2D-TTE and 3D-TOE, respectively. Bland-Altman plot showed a mean difference in aortic valve area (AVA) of 0.040 cm(2), with 2D-TTE yielding larger values than 3D-TOE. ICC of both methods was 0.724 (CI 95% 0.530-0.839; P < 0.001).nnnCONCLUSIONnAssessment of AVA by means of 3D-TOE is feasible in most patients with aortic valve stenosis. Reliability of the measurement is good. However, there is some disagreement with standard 2D-TTE that needs further investigation.

Two-dimensional transthoracic echocardiographic normal reference ranges for proximal aorta dimensions: results from the EACVI NORRE study

Aims To report normal reference ranges for echocardiographic dimensions of the proximal aorta obtained in a large group of healthy volunteers recruited using state-of-the-art cardiac ultrasound equipment, considering different measurement conventions, and taking into account gender, age, and body size of individuals. Methods and Results A total of 704 (mean age: 46.0 ± 13.5 years) healthy volunteers (310 men and 394 women) were prospectively recruited from the collaborating institutions of the Normal Reference Ranges for Echocardiography (NORRE) study. A comprehensive echocardiographic examination was obtained in all subjects following pre-defined protocols. Aortic dimensions were obtained in systole and diastole, following both the leading-edge to leading-edge and the inner-edge to inner-edge conventions. Diameters were measured at four levels: ventricular-arterial junction, sinuses of Valsalva, sino-tubular junction, and proximal tubular ascending aorta. Measures of aortic root in the short-axis view following the orientation of each of the three sinuses were also performed. Men had significantly larger body sizes when compared with women, and showed larger aortic dimensions independently of the measurement method used. Dimensions indexed by height and body surface area are provided, and stratification by age ranges is also displayed. In multivariable analysis, the independent predictors of aortic dimensions were age, gender, and height or body surface area. Conclusion The NORRE study provides normal values of proximal aorta dimensions as assessed by echocardiography. Reference ranges for different anatomical levels using different (i) measurement conventions and (ii) at different times of the cardiac cycle (i.e. mid-systole and end-diastole) are provided. Age, gender, and body size were significant determinants of aortic dimensions.

Spanish Acute Aortic Syndrome Study (RESA). Better Diagnosis Is Not Reflected in Reduced Mortality

INTRODUCTION AND OBJECTIVESnBecause acute aortic syndrome (AAS) is associated with high mortality, early diagnosis and treatment are vital. The aim of the Spanish Acute Aortic Syndrome Study (RESA) was to investigate the effectiveness of current treatment of AAS in a broad range of tertiary care hospitals in Spain.nnnMETHODSnBetween January 2005 and December 2007, 24 tertiary care hospitals reported data on 519 patients with AAS (78% male, mean age 61 +/- 13 years, range 20-92 years): 357 had type-A AAS and 162 had type B.nnnRESULTSnThe time delay between symptom onset and diagnosis was <24 hours in 67% of cases and >72 hours in 11%. Some 80% of patients with type-A AAS were treated surgically. The interval between diagnosis and surgery was <24 hours in 90% of cases. In patients with type-B AAS, 34% received invasive treatment: 11% had surgery and 23% underwent endovascular procedures. Mortality during hospitalization in patients with type-A disease was 33% in those treated surgically and 71% in those treated medically. Mortality in patients with type-B disease was 17% with medical treatment, 27% with endovascular treatment and 50% with surgical treatment.nnnCONCLUSIONSnDespite significant advances in the diagnosis of AAS, in-hospital mortality remains high. The findings of this study are representative of a broad range of unselected patients undergoing treatment for the disease and support the need for continuing improvements in therapeutic approaches to AAS.

Exercise Eco-Doppler in Hypertrophic Cardiomyopathy Patients. Determinant Factors of Exercise Intolerance

INTRODUCTION AND OBJECTIVESnAt-rest echocardiography is a poor predictor of exercise capacity in patients with hypertrophic cardiomyopathy. We aimed to test the performance of treadmill exercise Doppler echocardiography in the prediction of functional limitations in these patients.nnnMETHODSnEighty-seven consecutive patients with hypertrophic cardiomyopathy underwent treadmill exercise echocardiography with direct measurement of oxygen consumption. Both at rest and at peak exercise, the mitral inflow, mitral regurgitation, left ventricular outflow tract obstruction and mitral annulus velocities were assessed.nnnRESULTSnForty-three patients developed left ventricular outflow tract obstruction during exercise, which significantly decreased oxygen consumption (21.3 [5.7] mL/kg/min vs 24.6 [6.1] mL/kg/min; P=.012), and had greater left atrial volume (42.1 [14.5] mL/m(2) vs 31.1 [11.6] mL/m(2); P<.001) and a higher degree of mitral regurgitation and E/E ratio during exercise. Exercise variables improved the predictive value of functional capacity (adjusted R(2) rose from 0.38 to 0.49). Independent predictors of oxygen consumption were age, left atrial volume, E/E ratio and the presence of left ventricular outflow tract obstruction. In a subset of patients without left ventricular outflow obstruction, only left ventricular and atrial volume indexes were independent predictors of exercise capacity.nnnCONCLUSIONSnIn patients with hypertrophic cardiomyopathy, left ventricular outflow tract obstruction and left atrial volume are the main predictors of exercise capacity. Exercise echocardiography is a better predictor of functional performance than at-rest echocardiography, although its predictive power is under 50%. In nonobstructed patients, left atrial and ventricular volumes were the independent factors.

Características de la muerte súbita en las cardiopatías hereditarias

Introduccion y objetivos Las miocardiopatias (MCP) y las canalopatias (CP) son causas importantes de muerte subita (MS). Existe poca informacion en la literatura sobre el contexto en el que se produce la MS, y proviene de unos pocos centros de referencia. El objetivo del presente trabajo es estudiar las circunstancias de la MS en familias con cardiopatias hereditarias. Metodos Se registraron 152 casos de MS en un total de 103 familias (media de edad, 43 ± 19 anos). Los motivos de inclusion fueron: MS resucitada, 7%; MS reciente, 8%; diagnostico de MCP o CP en un familiar vivo, 72%. El 13% eran deportistas. Se trazaron arboles familiares y se recogieron los detalles sobre las circunstancias del fallecimiento. Se revisaron historias clinicas e informes autopsicos. Resultados El 18% de las MS ocurrieron durante el ejercicio fisico, el 32% en actividades cotidianas y el 37% en reposo/sueno. Hubo una asociacion estadistica entre el sexo varon y la MS (111 [73%] frente a 41 [27%]; pxa0=xa00,03). La MS relacionada con el ejercicio se asocio con la edad joven (pxa0=xa00,01). En el grupo de MCP se registro de forma significativa un mayor porcentaje de MS en relacion con ejercicio/estres/actividad cotidiana respecto al grupo de CP (el 61 frente al 41%; pxa0=xa00,057). Todos los deportistas eran varones y la mayoria de ellos fallecieron realizando ejercicio (el 50 frente al 11% de los no deportistas; pxa0=xa00,0002). El grupo de sindrome de Brugada presento el porcentaje mas elevado de MS en reposo/sueno (47%). En el 33% del total no fue posible identificar claramente el desencadenante. Conclusiones La MS es frecuente en las cardiopatias hereditarias y supone un numero importante de casos. Entre los casos de MS (independientemente del tipo de afeccion) los varones predominan claramente sobre las mujeres (3:1). La mayoria de las MS ocurrieron realizando ejercicio o una actividad cotidiana en las miocardiopatias y durante el reposo o el sueno en las canalopatias. El porcentaje de MS relacionadas con el ejercicio (18%) es superior al esperado.

Anatomical and clinical predictors of valve dysfunction and aortic dilation in bicuspid aortic valve disease

Objective Bicuspid aortic valve (BAV) is associated with early valvular dysfunction and proximal aorta dilation with high heterogeneity. This study aimed to assess the determinants of these complications. Methods Eight hundred and fifty-two consecutive adults diagnosed of BAV referred from cardiac outpatient clinics to eight echocardiographic laboratories of tertiary hospitals were prospectively recruited. Exclusion criteria were aortic coarctation, other congenital disorders or intervention. BAV morphotype, significant valve dysfunction and aorta dilation (≥2u2009Z-score) at sinuses and ascending aorta were established. Results Three BAV morphotypes were identified: right–left coronary cusp fusion (RL) in 72.9%, right–non-coronary (RN) in 24.1% and left–non-coronary (LN) in 3.0%. BAV without raphe was observed in 18.3%. Multivariate analysis showed aortic regurgitation (23%) to be related to male sex (OR: 2.80, p<0.0001) and valve prolapse (OR: 5.16, p<0.0001), and aortic stenosis (22%) to BAV-RN (OR: 2.09, p<0.001), the presence of raphe (OR: 2.75, p<0.001), age (OR: 1.03; p<0.001), dyslipidaemia (OR: 1.77, p<0.01) and smoking (OR: 1.63, p<0.05). Ascending aorta was dilated in 76% without differences among morphotypes and associated with significant valvular dysfunction. By contrast, aortic root was dilated in 34% and related to male sex and aortic regurgitation but was less frequent in aortic stenosis and BAV-RN. Conclusions Normofunctional valves are more prevalent in BAV without raphe. Aortic stenosis is more frequent in BAV-RN and associated with some cardiovascular risk factors, whereas aortic regurgitation (AR) is associated with male sex and sigmoid prolapse. Although ascending aorta is the most commonly dilated segment, aortic root dilation is present in one-third of patients and associated with AR. Remarkably, BAV-RL increases the risk for dilation of the proximal aorta, whereas BAV-RN spares this area.

A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain

INTRODUCTION AND OBJECTIVESnMutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c.2308+1 G>A).nnnMETHODSnWe studied 107 relatives of 13 index cases diagnosed as HCM carriers of the p.Pro108Alafs*9 mutation. Pedigree analysis, clinical evaluation, and genotyping were performed.nnnRESULTSnA total of 54 carriers of p.Pro108Alafs*9 were identified, of whom 39 had HCM. There were 5 cases of sudden death in the 13 families. Disease penetrance was greater as age increased and HCM patients were more frequently male and developed disease earlier than female patients. The phenotype was similar in p.Pro108Alafs*9 and in c.2308+1 G>A, but differences were found in several risk factors and in survival. There was a trend toward a higher left ventricular mass in p.Pro108Alafs*9 vs c.2308+1G>A. Cardiac magnetic resonance revealed a similar extent and pattern of fibrosis.nnnCONCLUSIONSnThe p.Pro108Alafs*9 mutation is associated with HCM, high penetrance, and disease onset in middle age.

Aortic Valve Stenosis Planimetry by Means of Three-Dimensional Transesophageal Echocardiography in the Real Clinical Setting: Feasibility, Reliability and Systematic Deviations

To assess the feasibility and reliability of aortic valve area (AVA) planimetry by means of three‐dimensional transesophageal echocardiography (3DTEE) as compared with the transthoracic echocardiogram (TTE) calculation of AVA, to determine the systematic deviations between measurements, and to describe the distribution of mean systolic in relation with 3DTEE anatomical AVA.

Characteristics of Sudden Death in Inherited Heart Disease

INTRODUCTION AND OBJECTIVESnCardiomyopathy and channelopathy are major causes of sudden death (SD). The little information available on the context in which SD occurs has come from only a few referral centers. The objective was to investigate the circumstances surrounding SD in families with inherited heart disease.nnnMETHODSnThe study included 152 SD patients (mean age 43+/-19 years) from 103 families. The reasons for inclusion were resuscitated SD in 7%, recent SD in 8%, and a diagnosis of cardiomyopathy or channelopathy in a living relative in 72%. Also, 13% were athletes. Family trees were constructed and each deaths circumstances were recorded. Autopsy and medical records were reviewed.nnnRESULTSnOverall, 18% of SDs occurred during physical exercise, 32% during normal daily activities, and 37% during rest or sleep. There was a significant association between male sex and SD: 111 males (73%) vs. 41 females (27%; P=.03). Exercise-related SD was associated with young age (P=.01). The percentage of SDs associated with exercise, stress or normal daily activities was significantly greater with cardiomyopathy than channelopathy (61% vs. 41%; P=.057). All athletes were male and the majority died during exercise (50% vs. 11% of non-athletes; P=.0002). Patients with Brugada syndrome had the highest percentage of SDs during rest or sleep (i.e. 47%). No clear trigger could be identified in 33%.nnnCONCLUSIONSnSD was common in inherited heart disease, which accounted for a significant number of cases. Males clearly predominated over females (ratio 3:1) among SD cases (irrespective of pathological type). Most SDs occurred during exercise or normal daily activities in cardiomyopathies and during rest or sleep in channelopathies. The percentage of exercise-related SDs (i.e. 18%) was higher than expected.