Characterizing the spectrum of right ventricular remodelling in response to chronic training.

The significance and spectrum of reduced right ventricular (RV) deformation, reported in endurance athletes, is unclear. To comprehensively analyze the cardiac performance at rest of athletes, especially focusing on integrating RV size and deformation to unravel the underlying triggers of this ventricular remodelling. Hundred professional male athletes and 50 sedentary healthy males of similar age were prospectively studied. Conventional echocardiographic parameters of all four chambers were obtained, as well as 2D echo-derived strain (2DSE) in the left (LV) and in the RV free wall with separate additional analysis of the RV basal and apical segments. Left and right-sided dimensions were larger in athletes than in controls, but with a disproportionate RA enlargement. RV global strain was lower in sportsmen (-26.8 ± 2.8% vs -28.5 ± 3.4%, p < 0.001) due to a decrease in the basal segment (-22.8 ± 3.5% vs -25.8 ± 4.0%, p < 0.001) resulting in a marked gradient of deformation from the RV inlet towards the apex. By integrating size, deformation and stroke volume, we observed that the LV working conditions were similar in all sportsmen while a wider variability existed in the RV. Cardiac remodelling in athletes is more pronounced in the right heart cavities with specific regional differences within the right ventricle, but with a wide variability among individuals. The large inter-individual differences, as well as its acute and chronic relevance warrant further investigation.

Evaluación del dolor torácico agudo mediante ecocardiografía de ejercicio y tomografía computarizada multidetectores / Exercise echocardiography and multidetector computed tomography for the evaluation of acute chest pain

Introducción y objetivos Un 4% de los pacientes con dolor torácico agudo y troponinas y electrocardiograma normales presentan eventos cardiacos adversos como consecuencia del síndrome coronario agudo no diagnosticado. El presente estudio compara la utilidad diagnóstica de la tomografía cardiaca y el ecocardiograma de ejercicio en pacientes con probabilidad baja-intermedia de enfermedad coronaria. Métodos Se incluyó prospectivamente a 69 sujetos con dolor torácico agudo y troponinas y electrocardiograma normales a los que se realizó una tomografía cardiaca y un ecocardiograma de ejercicio. Los pacientes con al menos una lesión ≥ 50% o una puntuación de calcio de Agatston ≥ 400 en la tomografía cardiaca, ecocardiograma de ejercicio positivo o con resultados no concluyentes ingresaron para completar estudio. Resultados: El síndrome coronario agudo se confirmó en 17 casos (24,6%), cifra inferior al 42% sospechado según los hallazgos de la tomografía cardiaca (p<0,05) y no significativamente diferente del 29% sospechado por el ecocardiograma de ejercicio (p=0,56). El ecocardiograma de ejercicio fue normal en el 37% de los casos con tomografía cardiaca patológica. La tomografía cardiaca proporcionó una sensibilidad superior (el 100 frente al 82,3%; p=0,21) pero una especificidad inferior (el 76,9 frente al 88,4%; p=0,12) que el ecocardiograma de ejercicio, aunque sin significación estadística. Un valor de corte de estenosis coronaria del 70% mejoró la especificidad de la tomografía cardiaca al 88,4% manteniendo la sensibilidad del 100%. Conclusiones: La tomografía cardiaca es una alternativa válida al ecocardiograma de ejercicio para el diagnóstico de síndrome coronario agudo en pacientes con probabilidad baja-intermedia de enfermedad coronaria. La combinación de ambas técnicas podría mejorar el diagnóstico

Introduction and objectives Up to 4% of patients with acute chest pain, normal electrocardiogram, and negative troponins present major adverse cardiac events as a result of undiagnosed acute coronary syndrome. Our aim was to compare the diagnostic performance of multidetector computed tomography and exercise echocardiography in patients with a low-to-intermediate probability of coronary artery disease. Methods We prospectively included 69 patients with acute chest pain, normal electrocardiogram, and negative troponins who underwent coronary tomography angiography and exercise echocardiography. Patients with coronary stenosis ≥ 50% or Agatston calcium score ≥ 400 on coronary tomography angiography or positive exercise echocardiography, or with inconclusive results, were admitted to rule out acute coronary syndrome. Results: An acute coronary syndrome was confirmed in 17 patients (24.6%). This was lower than the suspected 42% based on coronary tomography angiography (P < .05) and not significantly different than the suspected 29% based on the results of exercise echocardiography (P = .56). Exercise echocardiography was normal in up to 37% of patients with pathological findings on coronary tomography angiography. The latter technique provided a higher sensitivity (100% vs 82.3%; P = .21) but lower specificity (76.9% vs 88.4%; P=.12) than exercise echocardiography for the diagnosis of acute coronary syndrome, although without reaching statistical significance. Increasing the stenosis cutoff point to 70% increased the specificity of coronary tomography angiography to 88.4%, while maintaining high sensitivity. Conclusions: Coronary tomography angiography offers a valid alternative to exercise echocardiography for the diagnosis of acute coronary syndrome among patients with low-to-intermediate probability of coronary artery disease. A combination of both techniques could improve the diagnosis of acute coronary síndrome

Exercise echocardiography and multidetector computed tomography for the evaluation of acute chest pain.

INTRODUCTION AND OBJECTIVES: Up to 4% of patients with acute chest pain, normal electrocardiogram, and negative troponins present major adverse cardiac events as a result of undiagnosed acute coronary syndrome. Our aim was to compare the diagnostic performance of multidetector computed tomography and exercise echocardiography in patients with a low-to-intermediate probability of coronary artery disease. METHODS: We prospectively included 69 patients with acute chest pain, normal electrocardiogram, and negative troponins who underwent coronary tomography angiography and exercise echocardiography. Patients with coronary stenosis ≥ 50% or Agatston calcium score ≥ 400 on coronary tomography angiography or positive exercise echocardiography, or with inconclusive results, were admitted to rule out acute coronary syndrome. RESULTS: An acute coronary syndrome was confirmed in 17 patients (24.6%). This was lower than the suspected 42% based on coronary tomography angiography (P<.05) and not significantly different than the suspected 29% based on the results of exercise echocardiography (P=.56). Exercise echocardiography was normal in up to 37% of patients with pathological findings on coronary tomography angiography. The latter technique provided a higher sensitivity (100% vs 82.3%; P=.21) but lower specificity (76.9% vs 88.4%; P=.12) than exercise echocardiography for the diagnosis of acute coronary syndrome, although without reaching statistical significance. Increasing the stenosis cutoff point to 70% increased the specificity of coronary tomography angiography to 88.4%, while maintaining high sensitivity. CONCLUSIONS: Coronary tomography angiography offers a valid alternative to exercise echocardiography for the diagnosis of acute coronary syndrome among patients with low-to-intermediate probability of coronary artery disease. A combination of both techniques could improve the diagnosis of acute coronary syndrome.

Utilidad del ecocardiograma en la revisión preparticipativa de deportistas de competición / Usefulness of Echocardiography in Preparticipation Screening of Competitive Athletes

Introducción y objetivos A pesar del establecido valor diagnóstico del electrocardiograma en la revisión preparticipativa de sujetos deportistas, algunas alteraciones estructurales cardiacas podrían pasar inadvertidas, en especial en fases precoces de la enfermedad. El objetivo de este estudio es valorar la prevalencia de alteraciones estructurales cardiacas mediante el uso sistemático de la ecocardiografía en la revisión preparticipativa de deportistas de competición. Métodos Se estudió a los deportistas incluidos en un programa de competición o profesionales. Se realizó a todos los deportistas una revisión que incluyó historia familiar y personal, examen físico, electrocardiograma, prueba de esfuerzo y ecocardiograma Doppler. Resultados Se incluyó a 2.688 deportistas (el 67% varones; media de edad, 21 ± 10 años). La mayoría de los estudios ecocardiográficos (92,5%) fueron estrictamente normales y solo 203 (7,5%) tenían alteraciones; la más frecuente de ellas fue la hipertrofia ventricular izquierda, en 50 deportistas (1,8%). En 4 casos (0,14%) se indicó el cese de la práctica deportiva: 2 por miocardiopatía hipertrófica (el electrocardiograma mostraba alteraciones pero no cumplía criterios diagnósticos), 1 pectus excavatum con compresión del ventrículo derecho y 1 estenosis valvular pulmonar significativa; el resto de las alteraciones no implicaron el cese de la práctica deportiva y solo requirieron seguimiento periódico. Conclusiones: Algunas alteraciones estructurales cardiacas, aunque poco frecuentes, pueden pasar inadvertidas al examen físico y en el electrocardiograma; en cambio, son fácilmente reconocibles con un ecocardiograma. Estas observaciones indican introducir el ecocardiograma al menos en la primera valoración preparticipativa de deportistas de competición para mejorar la eficacia de los programas de prevención de la muerte súbita del deportista (AU)

Introduction and objectives Despite the established diagnostic value of the electrocardiogram in preparticipation screening of athletes, some cardiac structural changes can be missed, particularly in early disease stages. The aim of this study was to evaluate the prevalence of cardiac structural changes via the systematic use of echocardiography in preparticipation screening of competitive athletes. Methods Professional athletes or participants in a competitive athletic program underwent a screening that included family and personal medical history, physical examination, electrocardiography, exercise testing, and Doppler echocardiography. Results A total of 2688 athletes (67% men; mean age [standard deviation], 21 [10] years) were included. Most of the echocardiographic evaluations (92.5%) were normal and only 203 (7.5%) showed changes; the most frequent change was left ventricular hypertrophy, seen in 50 athletes (1.8%). Cessation of athletic activity was indicated in 4 athletes (0.14%): 2 for hypertrophic cardiomyopathy (electrocardiography had shown changes that did not meet diagnostic criteria), 1 pectus excavatum with compression of the right ventricle, and 1 significant pulmonary valve stenosis; the rest of the changes did not entail cessation of athletic activity and only indicated periodic monitoring. Conclusions Although rare, some cardiac structural changes can be missed on physical examination and electrocardiography; in contrast, they are easily recognized with echocardiography. These findings suggest the use of echocardiography in at least the first preparticipation screening of competitive athletes to improve the effectiveness of programs aimed at preventing sudden death in athletes (AU)

Usefulness of echocardiography in preparticipation screening of competitive athletes.

INTRODUCTION AND OBJECTIVES: Despite the established diagnostic value of the electrocardiogram in preparticipation screening of athletes, some cardiac structural changes can be missed, particularly in early disease stages. The aim of this study was to evaluate the prevalence of cardiac structural changes via the systematic use of echocardiography in preparticipation screening of competitive athletes. METHODS: Professional athletes or participants in a competitive athletic program underwent a screening that included family and personal medical history, physical examination, electrocardiography, exercise testing, and Doppler echocardiography. RESULTS: A total of 2688 athletes (67% men; mean age [standard deviation], 21 [10] years) were included. Most of the echocardiographic evaluations (92.5%) were normal and only 203 (7.5%) showed changes; the most frequent change was left ventricular hypertrophy, seen in 50 athletes (1.8%). Cessation of athletic activity was indicated in 4 athletes (0.14%): 2 for hypertrophic cardiomyopathy (electrocardiography had shown changes that did not meet diagnostic criteria), 1 pectus excavatum with compression of the right ventricle, and 1 significant pulmonary valve stenosis; the rest of the changes did not entail cessation of athletic activity and only indicated periodic monitoring. CONCLUSIONS: Although rare, some cardiac structural changes can be missed on physical examination and electrocardiography; in contrast, they are easily recognized with echocardiography. These findings suggest the use of echocardiography in at least the first preparticipation screening of competitive athletes to improve the effectiveness of programs aimed at preventing sudden death in athletes.

Atrial functional and geometrical remodeling in highly trained male athletes: for better or worse?

PURPOSE: Highly trained athletes have an increased risk of atrial arrhythmias. Atrial geometrical and functional remodeling may be the underlying substrate. We analyze and relate atrial size, deformation and performance in professional handball players compared with non-sportive subjects. METHODS: 24 Professional handball players and 20 non-sportive males were compared. All subjects underwent an echocardiographic study with evaluation of left (LA), right atrial (RA) dimensions and deformation by strain (Sa) and strain rate (SRa). Atrial performance was assessed from the atrial stroke volume (SV). With computational geometrical models, we studied the relation between atrial volumes, strains and SV and compared atrial working conditions. We estimated the functional reserve and a resulting average wall stress. RESULTS: LA and RA volumes were larger in athletes than in controls (35.2 ± 8.8 vs. 24.8 ± 4.3 ml/m(2), p < 0.01 and 29.0 ± 8.4 vs. 19.0 ± 5.1 ml/m(2), p < 0.01 respectively). LASa and RASa during active atrial contraction were decreased in athletes (-12.2 ± 2.0 vs. -14.5 ± 2.1%, p < 0.01 and -12.1 ± 1.8 vs. -14.2 ± 1.5%, p < 0.01 respectively). LASV was similar between groups (6.6 ± 1.4 vs. 7.3 ± 1.1 ml, p = 0.19) and RASV was lower in athletes (6.2 ± 1.3 vs. 7.2 ± 1.1 ml, p < 0.01). Computational models showed that this different operational mode potentially increases performance reserve, but at the cost of higher atrial wall stress. CONCLUSION: A proportion of athletes with enlarged LA and RA showed different atrial contractile performance, likely resulting in atria working at higher wall stress.

Echocardiographic abnormalities in patients with COPD at their first hospital admission.

Cardiovascular disease accounts for significant morbidity and mortality in chronic obstructive pulmonary disease (COPD). Its prevalence and mechanisms of association have not been elucidated. The study aimed to assess the prevalence of echocardiographic abnormalities and potential risk factors in patients with COPD at their first exacerbation requiring hospital admission. Transthoracic echocardiography was prospectively performed in 342 patients (forced expiratory volume in 1 s 52 ± 16% predicted) 3 months after discharge. Significant cardiac alterations were present in 64% of patients; 27% left- and 48% right-heart disorders. The most common were right ventricle enlargement (30%) and pulmonary hypertension (19%). Left ventricle enlargement was present in 6%, left ventricle systolic dysfunction in 13%, left ventricle diastolic impairment in 12% and left atrial dilatation in 29%. Echocardiographic abnormalities were unrelated to COPD severity and were more frequent in patients with self-reported cardiac disease. They were also observed in 63% of patients with no known cardiac disease or cardiovascular risk factors other than smoking. We conclude that cardiac abnormalities are highly prevalent in COPD patients at the time of their first severe exacerbation, even in the absence of established cardiac disease or cardiovascular risk factors. Considering the prognostic and therapeutic implications of cardiac comorbidity, echocardiography should be considered in the assessment of patients with clinically significant COPD.

Ischaemic postconditioning revisited: lack of effects on infarct size following primary percutaneous coronary intervention.

AIMS: To assess the short- and long-term effects of postconditioning (p-cond) on infarct size, extent of myocardial salvage, and left ventricular ejection fraction (LVEF) in a series of patients presenting with evolving ST-elevation myocardial infarction (STEMI). Previous studies have shown that p-cond during primary percutaneous coronary intervention (PCI) confers protection against ischaemia-reperfusion injury and thus might reduce myocardial infarct size. METHODS AND RESULTS: Seventy-nine patients undergoing PCI for a first STEMI with TIMI grade flow 0-1 and no collaterals were randomized to p-cond (n= 39) or controls (n= 40). Postconditioning was performed by applying four consecutive cycles of 1 min balloon inflation, each followed by 1 min deflation. Infarct size, myocardial salvage, and LVEF were assessed by cardiac-MRI 1 week and 6 months after MI. Postconditioning was associated with lower myocardial salvage (4.1 ± 7.2 vs. 9.1 ± 5.8% in controls; P= 0.004) and lower myocardial salvage index (18.9 ± 27.4 vs. 30.9 ± 20.5% in controls; P= 0.038). No significant differences in infarct size and LVEF were found between the groups at 1 week and 6 months after MI. CONCLUSION: This randomized study suggests that p-cond during primary PCI does not reduce infarct size or improve myocardial function recovery at both short- and long-term follow-up and might have a potential harmful effect.

Remodelado auricular adverso en atletas de alto rendimiento: Estudio de deformación auricular con speckle tracking 2D / Adverse left atrial remodeling in highly trained athletes: an echocardiography study using 2D speckle tracking

Background: Highly trained athletes are at increased risk of atrial fibrillation (AF) and flutter. Atrial dilatation and dysfunction might be the underlying substrate for the increased risk. The aim of the present study was to relate atrial size and deformation in a selected group of highly trained athletes and patients with paroxysmal atrial fibrillation (PAF). Methods: 20 professional male hand-ball players, 18 patients with PAF and 20 healthy age-matched, non-sportive males were compared. All subjects underwent a transthoracic echocardiogram with evaluation of left atrial (LA) dimensions. Left atrial strain (LASa) and strain rate (LASRa) derived from speckle tracking were used to evaluate LA deformation post atrial contraction. Results: LA volumes were significantly larger in athletes and PAF patients compared to controls (36 + 1.7 ml/m2; 36 ± 2.3 ml/m2 and 24 + 1 ml/m2, respectively, p < 0.01;). LASa and LASRa during active atrial contraction were decreased in PAF patients compared to athletes and controls (-10.6 ± 0.2 %; -12.2 ± 0.4 % and -14.5 ± 0.5 %, p < 0.01 for LASa and -1.2 ± 0.08 sec-1; -1.5 ± 0.12 sec-1; -1.7 ± 0.13 sec-1, p= 0.04 for LASRa respectively). Athletes with LA volume > 40 ml/m2 (n=7) showed reduced LASa compared to athletes with LA volume < 40 mL/m2 (-10.3 ± 0.4% versus -13.0 ± 0.5%, p < 0.01). PAF patients had LASa values similar to those of subjects with normal LA volume. Conclusion: Athletes with increased LA volume exhibit lower strain parameters compared to subjects with PAF. It is postulated that measurement of LA strain may be used to predict development of AF in highly trained athletes.

Introducción: Atletas de alto rendimiento tienen un riesgo aumentado de desarrollar fibrilacion auricular (FA) y flutter. La dilatación y disfunción auricular podrían ser el sustrato subyacente para este incremento en el riesgo. El objetivo fue analizar y relacionar el tamaño y deformación auricular en un grupo seleccionado de atletas y en pacientes con FA paroxística. Métodos: Se incluyeron 20 jugadores de balón-mano profesionales y 20 controles sedentarios, pareados por edad y sexo, junto a 18 pacientes con FA paroxística. En todos los sujetos se realizó un estudio ecocardiográfico bidimensional con evaluación de las dimensiones y de la deformación (post contracción auricular) por strain (Sa) y strain rate (SRa) de la aurícula izquierda (AI). Resultados: El volumen AI fue significativamente mayor en atletas y pacientes con FA respecto de los controles (36 + 1,7 ml/m2; 36 ± 2,3 ml/m2 y 24 + 1 ml/m2, p < 0,01; respectivamente). El SaAI y SRaAI durante la contracción auricular estaban disminuidos en los pacientes con FA paroxística respecto de atletas y controles (-10,6 ± 0,2 %; -12,2 ± 0,4 % y -14,5 ± 0,5 %, p < 0,01 para SaAI y -1,2 ± 0,08 sec-1; -1,5 ± 0,12 sec-1; -1,7 ± 0,13 sec-1, p= 0,04 para SRaAI, respectivamente). Los atletas con un volumen AI > 40 ml/m2 (n=7) mostraron valores reducidos de SaAI comparados con atletas con un volumen AI < 40 mL/m2 (-10,3 ± 0,4% versus -13,0 ± 0,5%, p < 0,01) y éstos fueron similares a los pacientes con FA (-10,3 ± 0,4% versus -10,6 ± 0,2%, p= 0,6). Conclusiones: Una proporción de atletas con dilatación AI presentan evidencia de disfunción contráctil de la AI, caracterizado por valores de strain disminuidos que son similares a los de pacientes con FA paroxística. Esto podría corresponder a un sustrato para el desarrollo posterior de arritmias auriculares en estos atletas.

Repeated episodes of hypoglycemia as a potential aggravating factor for preclinical atherosclerosis in subjects with type 1 diabetes.

OBJECTIVE: To evaluate through early preclinical atherosclerosis assessment whether repeated episodes of hypoglycemia represent an aggravating factor for macrovascular disease in type 1 diabetes. RESEARCH DESIGN AND METHODS: After sample-size calculation, a case-control study of 25 patients with type 1 diabetes and repeated severe/nonsevere hypoglycemia (H-group) compared with 20 age- and sex-matched type 1 diabetes control subjects (C-group) was designed. Assessment of preclinical atherosclerosis consisted of flow-mediated brachial dilatation (FMD) and carotid and femoral intima-media thickness (IMT) studies. To consider hypoglycemia awareness, two different questionnaires and symptomatic response to an acute induction to hypoglycemia were used. Evaluation of the glycemic profile was obtained from continuous glucose monitoring. Endothelial function/inflammation markers were measured in euglycemia/hypoglycemia. A multivariate linear regression analysis was performed to test whether repeated hypoglycemia was independently associated with atherosclerosis. RESULTS: H-group subjects displayed hypoglycemia unawareness and presented a higher percentage of continuous glucose values and area under the curve <70 mg/dl compared with the C-group (14.2 ± 8.9 vs. 6.3 ± 7.1%, P < 0.02 and 2.4 ± 1.8 vs. 0.6 ± 1.0 mg/dl/day, P < 0.01). The percentage of maximal FMD was lower in the H-group than in the C-group (6.52 ± 2.92 vs. 8.62 ± 3.13%, P < 0.05). A significantly higher IMT was observed at both carotid and femoral sites in the H-group (carotid 0.53 ± 0.09 vs. 0.47 ± 0.08 mm, P < 0.05 and femoral 0.51 ± 0.17 vs. 0.39 ± 0.09 mm, P < 0.05). Baseline inflammation and endothelial function markers were higher in the H-group (leukocytes 7.0 ± 1.8 vs. 5.6 ± 1.4 × 10³/ml, von Willebrand factor 119 ± 29 vs. 93 ± 26%, fibrinogen 2.82 ± 0.64 vs. 2.29 ± 0.44 g/l, and soluble intercellular adhesion molecule-1 408 ± 224 vs. 296 ± 95 ng/ml; P < 0.05 for all). CONCLUSIONS: In addition to the induction of hypoglycemia unawareness and an increased risk for severe hypoglycemia, repeated hypoglycemia could be related to and considered an aggravating factor for preclinical atherosclerosis in type 1 diabetes. The precise mechanisms explaining this association remain to be clarified.

Identification and prospective validation of clinically relevant chronic obstructive pulmonary disease (COPD) subtypes.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is increasingly considered a heterogeneous condition. It was hypothesised that COPD, as currently defined, includes different clinically relevant subtypes. METHODS: To identify and validate COPD subtypes, 342 subjects hospitalised for the first time because of a COPD exacerbation were recruited. Three months after discharge, when clinically stable, symptoms and quality of life, lung function, exercise capacity, nutritional status, biomarkers of systemic and bronchial inflammation, sputum microbiology, CT of the thorax and echocardiography were assessed. COPD groups were identified by partitioning cluster analysis and validated prospectively against cause-specific hospitalisations and all-cause mortality during a 4 year follow-up. RESULTS: Three COPD groups were identified: group 1 (n=126, 67 years) was characterised by severe airflow limitation (postbronchodilator forced expiratory volume in 1 s (FEV(1)) 38% predicted) and worse performance in most of the respiratory domains of the disease; group 2 (n=125, 69 years) showed milder airflow limitation (FEV(1) 63% predicted); and group 3 (n=91, 67 years) combined a similarly milder airflow limitation (FEV(1) 58% predicted) with a high proportion of obesity, cardiovascular disorders, diabetes and systemic inflammation. During follow-up, group 1 had more frequent hospitalisations due to COPD (HR 3.28, p<0.001) and higher all-cause mortality (HR 2.36, p=0.018) than the other two groups, whereas group 3 had more admissions due to cardiovascular disease (HR 2.87, p=0.014). CONCLUSIONS: In patients with COPD recruited at their first hospitalisation, three different COPD subtypes were identified and prospectively validated: 'severe respiratory COPD', 'moderate respiratory COPD', and 'systemic COPD'.

Estudio del gen BMPR2 en pacientes con hipertensión arterial pulmonar / Study of the BMPR2 gene in patients with pulmonary arterial hypertension

IntroducciónLas mutaciones del gen que codifica el receptor 2 de las proteínas morfogénicas del hueso (BMPR2) contribuyen a la patogénesis de la hipertensión arterial pulmonar en sus formas familiar (HAPF) e idiopática.MétodoCon el objetivo de profundizar en el conocimiento de dichos factores genéticos en nuestro medio, se estudió el gen BMPR2 en 17 pacientes con hipertensión arterial pulmonar, 8 con HAPF y 9 con hipertensión arterial idiopática esporádica. Adicionalmente, se analizó si la presencia de mutaciones del gen BMPR2 se asociaba a cambios en la capacidad de difusión del CO a fin de evaluar el interés de esta medición en el diagnóstico preclínico.ResultadosSe detectaron las mutaciones R491Q y R211X en 2 pacientes con HAPF (prevalencia 25%), y la mutación R332X en un caso de hipertensión arterial idiopática (prevalencia 11%). El estudio familiar del paciente con la mutación R491Q demostró la presencia de la misma en 14 de los 28 sujetos estudiados, de los cuales 5 presentaban la enfermedad (penetrancia 36%). En dicha familia se observó un descenso de la relación en la capacidad de difusión del CO/volumen alveolar en los familiares asintomáticos que expresaban la mutación, comparado con los que no la expresaban (88±5% y 104±9% del valor de referencia, respectivamente; p<0,01).ConclusiónConcluimos que la frecuencia de mutaciones del gen BMPR2 en los pacientes con HAPF estudiados es inferior a la descrita previamente. El descenso del volumen alveolar observado en portadores de la mutación asintomáticos sugiere cierto grado de alteración vascular pulmonar, por lo que su medición podría ser útil en el estudio familiar de la HAPF(AU)

IntroductionMutations of the gene that code bone morphogenic protein type 2 receptor (BMPR2) are involved in the pathogenesis of pulmonary arterial hypertension (PAH), both in its familial (FPAH) and its idiopathic (IPAH) forms.MethodWith the aim of increasing the knowledge of these genetic factors in our area, the BMPR2 gene was studied in 17 patients with PAH, 8 with FPAH and 9 with sporadic IPAH. Additionally, a study was made to see whether the presence of BMPR2 mutations was associated with changes in the CO diffusing CO (DLCO) with the aim of evaluating the interest in this measurement in the pre-clinical diagnosis.ResultsR491Q y R211X mutations were detected in 2 patients with FPAH (prevalence, 25%), and the R332X mutation in one case of IPAH (prevalence, 11%). The familial study of the patient with the R491Q mutation, 14 of the 28 subjects studied had the mutation, and 4 had the diseases (penetration, 36%). A decrease in the DLCO/alveolar volume (KCO) ratio was observed in asymptomatic family members who expressed the mutation, compared to those who did not express it (88±5% and 104±9% of the reference value, respectively; P<0.01).ConclusionWe conclude that the frequency of mutations in the BMPR2 gene in the patients studied with FPAH is lower than was previously described. The decrease in the KCO observed in asymptomatic carriers of the mutation suggests a certain level of pulmonary vascular changes, therefore its measurement could be useful in the familial study of FPAH(AU)

[Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. / Estudio del gen BMPR2 en pacientes con hipertensión arterial pulmonar.

INTRODUCTION: Mutations of the gene that code bone morphogenic protein type 2 receptor (BMPR2) are involved in the pathogenesis of pulmonary arterial hypertension (PAH), both in its familial (FPAH) and its idiopathic (IPAH) forms. METHOD: With the aim of increasing the knowledge of these genetic factors in our area, the BMPR2 gene was studied in 17 patients with PAH, 8 with FPAH and 9 with sporadic IPAH. Additionally, a study was made to see whether the presence of BMPR2 mutations was associated with changes in the CO diffusing CO (DL(CO)) with the aim of evaluating the interest in this measurement in the pre-clinical diagnosis. RESULTS: R491Q y R211X mutations were detected in 2 patients with FPAH (prevalence, 25%), and the R332X mutation in one case of IPAH (prevalence, 11%). The familial study of the patient with the R491Q mutation, 14 of the 28 subjects studied had the mutation, and 4 had the diseases (penetration, 36%). A decrease in the DL(CO)/alveolar volume (K(CO)) ratio was observed in asymptomatic family members who expressed the mutation, compared to those who did not express it (88+/-5% and 104+/-9% of the reference value, respectively; P<0.01). CONCLUSION: We conclude that the frequency of mutations in the BMPR2 gene in the patients studied with FPAH is lower than was previously described. The decrease in the K(CO) observed in asymptomatic carriers of the mutation suggests a certain level of pulmonary vascular changes, therefore its measurement could be useful in the familial study of FPAH.

Magnetic resonance reveals long-term sequelae of apical ballooning syndrome.

BACKGROUND: The presence of small areas of necrosis has been occasionally reported immediately following apical ballooning syndrome (ABS). However, their persistence at later stages and impact on long-term prognosis are currently unknown. METHODS: Twenty consecutive patients admitted for ABS between 2004 and 2007 were prospectively evaluated. Demographic, clinical, angiographic, and echocardiographic data were collected during hospital admission. At a mean of 11+/-9 months follow-up, a contrast enhanced cardiac magnetic resonance (ce-CMR) study was performed in 17 cases. The presence of hyperenhancement on ce-CMR images, reflecting irreversible myocardial damage, was recorded by two independent observers. RESULTS: Two of 3 patients with hyperenhancement on ce-CMR images presented in worse condition, including pulmonary edema or cardiogenic shock, compared to just 2 of 14 patients without hyperenhancement (p=0.052). Segmental wall motion substantially improved in both of those cases; the third patient continued to have hypokinesis in a segment showing hyperenhancement. Segmental wall motion also significantly improved in all patients with no hyperenhancement. At a mean of 20+/-12 months follow-up, no deaths or major adverse cardiac events were documented among patients with or without hyperenhancement. CONCLUSIONS: Despite segmental wall motion recovery, an area of irreversible myocardial damage can sometimes be identified long after ABS. However, in this limited series of patients, the presence of scar, even when presenting with heart failure and a higher troponin release, was not associated with adverse long-term outcomes as compared to patients with intact myocardium.

Relation of plasma brain natriuretic peptide levels on admission for ST-elevation myocardial infarction to left ventricular end-diastolic volume six months later measured by both echocardiography and cardiac magnetic resonance.

The main objective of this study was to investigate the relation between brain natriuretic peptide (BNP) levels within the first 96 hours after ST-segment elevation acute myocardial infarction (STEMI) and the development of left ventricular (LV) dilatation at 6-month follow-up. Eighty-two patients with first STEMIs, reperfused within 12 hours of symptom onset, were prospectively included. Plasma BNP was determined on admission and at 1- and 6-month follow-up. Clinically significant LV dilatation, defined as a >20% increase in LV end-diastolic volume at 6-month follow-up, was assessed using echocardiography and cardiac magnetic resonance. Thirty-two percent of patients developed clinically significant LV dilatation. BNP values on admission and at follow-up were significantly higher in patients who developed clinically significant LV dilatation at 6 months (182 +/- 117 vs 106 +/- 91 pmol/ml). After adjusting for age, infarct size, E-wave deceleration time, and the LV ejection fraction, BNP on admission was an independent predictor of LV dilatation, whether assessed by echocardiography (B = 0.075, p = 0.04) or cardiac magnetic resonance (B = 0.085, p = 0.04). In conclusion, high BNP levels on admission and at follow-up predict LV dilatation after STEMI. The early determination of plasma BNP upon admission for STEMI could be helpful in identifying patients at higher risk for LV dilatation, in whom aggressive management is warranted.

Long-term effect of cardiac resynchronization therapy on functional mitral valve regurgitation.

Cardiac resynchronization therapy (CRT) has been shown to reduce functional mitral regurgitation (MR). The aims of this study were to analyze the underlying mechanisms leading to this reduction and to identify the best candidates with functional MR for this therapy. Changes in mitral geometry, left ventricular (LV) remodeling, and LV synchrony were studied in patients who underwent CRT acutely and at 6- and 12-month follow-up. Of 151 patients (mean age 69 +/- 9 years, 82% men) who underwent CRT, 57 (38%) had nontrivial MR (regurgitant orifice area > or =10 mm(2)). The median reduction of MR with CRT was 18% acutely and 38% at 12-month follow-up. CRT induced an acute improvement in LV systolic function (LV dP/dt from 508 +/- 143 to 700 +/- 249 mm Hg, p <0.05) and a reduction in dyssynchrony (interventricular delay from 51 +/- 31 to 29 +/- 27 ms, p <0.05). At 12-month follow-up, additional reverse global and local LV remodeling (LV end-systolic volume from 183 +/- 77 to 151 +/- 50 ml, tenting area from 3.36 +/- 0.98 to 2.78 +/- 0.75 cm, p <0.05 for both) and a reduction in LV dyssynchrony (septal-lateral delay from 90 +/- 63 to 53 +/- 42 ms, p <0.05) were found. Significant reductions in MR were found in 28 patients (49%) and similarly observed in either ischemic MR or functional MR of other causes. Baseline mitral tenting area was the strongest predictor of significant MR reduction with CRT. In conclusion, CRT induced acute and sustained reductions in functional MR in almost 50% of patients by initially improving LV systolic function and dyssynchrony; long-term reverse LV remodeling contributed to this sustained effect. Patients with larger mitral valve tenting areas are less amenable to benefit from CRT.