Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63.

Cancer therapy-related cardiac dysfunction (CTRCD), which commonly includes left ventricular dysfunction and heart failure, is the main adverse effect of anticancer therapy. In recent years several candidate genes studies and genome-wide association studies have identified common genetic variants associated with CTRCD, but evidence remains limited and few genetic variants are robust. A genome-wide meta-analysis of CTRCD was performed with 852 oncology patients receiving cancer therapy. DNA samples were genotyped and imputed to perform a GWAS meta-analysis for case-control (N = 852 (380 cases and 472 controls) and extreme phenotypes (N = 618 (78 cases and 472 controls) looking for genetic variants that predispose to CTRCD. The results were validated in a replicate cohort of 1,191 oncology patients (245 cases and 946 controls). Functional mapping of the replicated loci was then performed. The meta-analysis showed 9 and 17 loci suggestively associated (P-value < 1 × 10-5) with CTRCD in case-control and extreme phenotypes analyses, respectively. The 3q28 locus (rs rs7652759, P = 5.64 × 10-6) in the case-control analysis was the strongest signal, with up to 64 SNPs above the suggestive significance threshold. The rs7652759, an intergenic variant between TPRG1 and TP63 genes, was the only variant validated in the replication cohort (P-value = 0.01). Functional mapping of this significant locus revealed up to 5 new genes potentially involved in the CTRCD. We identified the intergenic region near TP63 as a novel CTRCD susceptibility locus. In the future, the genotyping of these markers could be considered in new CTRCD risk scores to improve preventive strategies in cardio-oncology.

Cardiac magnetic resonance analysis of right ventricular function: comparison of quantification in the short-axis and 4-chamber planes.

OBJECTIVE: To compare the methods of right ventricle segmentation in the short-axis and 4-chamber planes in cardiac magnetic resonance imaging and to correlate the findings with those of the tricuspid annular plane systolic excursion (TAPSE) method in echocardiography. MATERIAL AND METHODS: We used a 1.5T MRI scanner to study 26 patients with diverse cardiovascular diseases. In all MRI studies, we obtained cine-mode images from the base to the apex in both the short-axis and 4-chamber planes using steady-state free precession sequences and 6mm thick slices. In all patients, we quantified the end-diastolic volume, end-systolic volume, and the ejection fraction of the right ventricle. On the same day as the cardiac magnetic resonance imaging study, 14 patients also underwent echocardiography with TAPSE calculation of right ventricular function. RESULTS: No statistically significant differences were found in the volumes and function of the right ventricle calculated using the 2 segmentation methods. The correlation between the volume estimations by the two segmentation methods was excellent (r=0,95); the correlation for the ejection fraction was slightly lower (r=0,8). The correlation between the cardiac magnetic resonance imaging estimate of right ventricular ejection fraction and TAPSE was very low (r=0,2, P<.01). CONCLUSION: Both ventricular segmentation methods quantify right ventricular function adequately. The correlation with the echocardiographic method is low.

[Semiautomatic quantification of left and right ventricular function in cardiac magnetic resonance imaging: a preliminary study]. / Cuantificación semiautomática de la función ventricular izquierda y derecha en resonancia magnética cardíaca. Estudio preliminar.

OBJECTIVES: The aim of this study was to compare a semiautomatic segmentation method to quantify the function of both ventricles in magnetic resonance imaging (MRI) with the manual tracing method. MATERIAL AND METHODS: We examined 17 patients with diverse cardiovascular diseases on a 1.5 Tesla MRI unit (Magnetom Symphony Quantum; Siemens Medical Systems, Erlangen, Germany) using the following parameters: maximum gradient, 30 mT/m; and slew rate, 125 T/m/s. In all studies, we acquired images in cine mode in the short axis (SSFP, 6mm slice thickness, from the base to the ventricular apex) with breath holding. To reduce the user interaction, we used only one image per patient to initiate the semiautomatic method. The semiautomatic method was based on a specifically designed algorithm of regional growth and border detection. We quantified the end-diastolic volume (EDV), end-systolic volume (ESV), and the ejection fraction (EF) for both ventricles in all patients. RESULTS: No significant differences between the two segmentation techniques were found in the quantification of either ventricle (p>0.05). The difference in the volumes, although nearly significant, are clinically irrelevant. The correlation for the estimation of left ventricular function was excellent (r>0.9), and the correlation for the estimation of right ventricular function was good (r>0.7). CONCLUSIONS: Our semiautomatic segmentation method enables the function of both ventricles to be quantified as accurately as the conventional method.

[Post-infarction left ventricular free wall rupture]. / Rotura post-infarto de la pared libre del ventrículo izquierdo.

We report four cases of subacute left ventricular free wall rupture after myocardial infarction successfully treated with emergency surgery. Some aspects dealing with clinical presentation, diagnosis and treatment are discussed.

[Guideline for the education of the specialist in cardiology in Spain. Comisión Nacional de la Especialidad de Cardiología]. / Guía de formación del especialista en cardiología en España. Comisión Nacional de la Especialidad de Cardiología.

This article presents the program for training in cardiology. The document was elaborated by the National Committee of the Specialty of Cardiology, from the Ministry of Health and Ministry of Education, and describes the theoretical and practical aspects of training in cardiology prevailing at present in Spain.

[How to choose and adequate antihypertensive drug depending on the type of the existing heart damage?]. / Cómo se elige el fármaco antihipertensivo adecuado dependiendo de la complicación cardíaca dominante?

The main goal of the treatment for hypertensive vascular disease is to reduce the morbidity and mortality that follow the disease. In the patient with heart disease, the choice of antihypertensive treatment will depend on several factors, all of which must be considered prior to it: type of cardiopathy and complications, pharmacokinetics of the drug-selected and its side effects, interactions with specific treatment for the main heart disease, positive or negative interactions with risk factors and, finally, its prognostic benefits. In the present study we briefly analyze this considerations in relation to different diseases such as ischemic heart disease, ventricular dysfunction (hypertrophy, systolic and diastolic dysfunction), heart rhythm disorders (sinus node dysfunction, supraventricular and ventricular ectopies), vascular pathology (cerebral and peripheral vasculopathy) and risk factors (diabetes, dyslipemia, obesity). Based on this considerations, several recommendations are done in order to choose the best antihypertensive drug in such cardiovascular diseases.

[The threat syndrome of the anterior descending coronary artery]. / Síndrome de amenaza de la arteria coronaria descendente anterior.

Some patients with unstable angina develop a deep T-wave inversion in ECG leads V1 to V4. It has been suggested that this special ECG pattern is associated with a severe stenosis of the left anterior descending (LAD) coronary artery. We have studied 73 of this patients. All of them had an LAD involvement, nearly always as severe atherosclerotic plaque and in 5% of the cases due to non-atherosclerotic alterations (milking or spasm). Angioplasty was performed in 33% and bypass surgery in 61%. In both cases the immediate results were good (0% and 4% respectively in-hospital mortality) as well as the outcome (12% restenosis and 0% late mortality respectively). The ECG signs disappeared in the year after.