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Heart diseasesMalalties del corEnfermedades del corazó

Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study

Arrhythmia; Heritable thoracic aortic diseaseArritmia; Enfermedad hereditaria de la aorta torácicaArrítmia; Malaltia hereditària de l'aorta toràcicaBackground Heritable thoracic aortic diseases (HTAD), typically entailing aortic complications, can be caused by pathogenic variants or likely pathogenic variants (PV/LPVs) in several genes, including fibrillin1 (FBN1), Actin Alpha2 (ACTA2) and genes encoding components of the transforming growth factor (TGF)-β signaling pathway. In addition to aortic complications, non-aortic cardiac disease such as impaired myocardial function and/or arrhythmia have been increasingly reported, mainly in Marfan syndrome with underlying FBN1 PV/LPVs and are acknowledged as additional causes of morbidity and mortality. The prevalence of these manifestations in the various HTAD entities is largely unknown. Methods This international multicentre retrospective study collected data on patients with HTAD presenting non-aortic cardiac disease. A total of 9 centers from 7 different countries participated. Patients 12 years or older carrying a PV/LPV in one of the following genes: FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3 and ACTA2 were screened. Non-aortic cardiac disease included impaired myocardial function and/or arrhythmia. Impaired myocardial function was defined as (a)symptomatic reduced ejection fraction (EF<50%). Arrhythmias included atrial fibrillation (AF), atrial flutter (AFL), ventricular tachycardia (VT), ventricular fibrillation (VF) and (aborted) sudden cardiac death (presumed arrhythmogenic) (SCD). Results Medical records of 3219 patients with HTAD were screened (2761, 385 and 73 carrying a PV/LPV in FBN1, in a TGF-β signaling gene and in ACTA2 respectively). Non-aortic cardiac disease was reported 142 times in 101 patients (3.1%) (age 37 [range 12–77] years, 39% female): 88 patients carrying an FBN1 PV/LPV and 13 carrying a PV/LPV in one of the TGF-β signaling genes. Neither impaired myocardial function nor arrhythmia was reported in screened patients carrying a PV/LPV in ACTA2. Among the 142 reported non-aortic cardiac diseases, 68 (48%) were impaired myocardial function, 47 (33%) were AF/AFL and 27 (19%) were VT/VF/SCD. Among the patients with non-aortic cardiac disease, prior cardiac surgery was noted in 80% and severe valvular disease (valvular surgery or severe valvular regurgitation) in 58%, while 18% of the patients developed non-aortic cardiac disease in the absence of any of the latter. Conclusions In patients with HTAD, arrhythmia and impaired myocardial function was reported in patients with PV/LPVs in FBN1 and in the TGF-β signaling genes and not in patients harboring PV/LPVs in ACTA2. Though infrequent, non-aortic cardiac disease should be acknowledged as potentially severe, also occurring in young patients with no underlying significant valvular or aortic disease

Different profiles of lipoprotein particles associate various degrees of cardiac involvement in adolescents with morbid obesity

Dyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective is to evaluate the advanced lipoprotein testing (ALT) and its relationship with cardiac changes, metabolic syndrome (MS) and inflammatory markers in a population of morbidly obese adolescents with normal CLP and without type 2 diabetes mellitus, the most common scenario in obese adolescents. Prospective case-control research of 42 morbidly obese adolescents and 25 normal-weight adolescents, whose left ventricle (LV) morphology and function had been assessed. The ALT was obtained by proton nuclear magnetic resonance spectroscopy, and the results were compared according to the degree of cardiac involvement - normal heart, mild LV changes, and severe LV changes (specifically LV remodeling and systolic dysfunction) - and related to inflammation markers [highly-sensitive C-reactive protein and glycoprotein A (GlycA)] and insulin-resistance [homeostatic model assessment for insulin-resistance (HOMA-IR)]. A second analysis was performed to compare our results with the predominant ALT when only body mass index and metabolic syndrome criteria were considered. The three cardiac involvement groups showed significant increases in HOMA-IR, inflammatory markers and ALT ratio LDL-P/HDL-P (40.0 vs. 43.9 vs. 47.1, p 0.012). When only cardiac change groups were considered, differences in small LDL-P (565.0 vs. 625.1 nmol/L, p 0.070), VLDL size and GlycA demonstrated better utility than just traditional risk factors to predict which subjects could present severe LV changes [AUC: 0.79 (95% CI: 0.54-1)]. In the second analysis, an atherosclerotic ALT was detected in morbidly obese subjects, characterized by a significant increase in large VLDL-P, small LDL-P, ratio LDL-P/HDL-P and ratio HDL-TG/HDL-C. Subjects with criteria for MS presented overall worse ALT (specially in triglyceride-enriched particles) and remnant cholesterol values. ALT parameters and GlycA appear to be more reliable indicators of cardiac change severity than traditional CV risk factors. Particularly, the overage of LDL-P compared to HDL-P and the increase in small LDL-P with cholesterol-depleted LDL particles appear to be the key ALT's parameters involved in LV changes. Morbidly obese adolescents show an atherosclerotic ALT and those with MS present worse ALT values

Guia d’abordatge del delírium

Guia d'abordatge; Delírium; DemènciesGuía de abordaje; Delirium; DemenciasBoarding guide; Delirium; DementiasAquesta guia pretén ser el punt de referència per a professionals i per a l’entorn cuidador dels pacients amb delírium, alhora que estableix les recomanacions de prevenció, identificació i tractament que garanteixen una atenció òptima per als pacients, de manera que involucra l’entorn cuidador i reconeix la seva importància. L’objectiu d’aquesta guia és la creació d’una eina pràctica i accessible per a tothom que permeti minvar els efectes d’aquesta síndrome (la qual apareix sobtadament), i que sigui útil per a tots els nivells assistencials i per a l’àmbit social

Are Aortic Root and Ascending Aorta Diameters Measured by the Pediatric versus the Adult American Society of Echocardiography Guidelines Interchangeable?

Aortic dimensions; Echocardiography; Guideline’s recommendationsDimensions aòrtiques; Ecocardiografia; Recomanacions de les directriusDimensiones aórticas; Ecocardiografía; Recomendaciones de las directricesAscending aorta diameters have important clinical value in the diagnosis, follow-up, and surgical indication of many aortic diseases. However, there is no uniformity among experts regarding ascending aorta diameter quantification by echocardiography. The aim of this study was to compare maximum aortic root and ascending aorta diameters determined by the diastolic leading edge (DLE) and the systolic inner edge (SIE) conventions in adult and pediatric patients with inherited cardiovascular diseases. Transthoracic echocardiograms were performed in 328 consecutive patients (260 adults and 68 children). Aorta diameters were measured twice at the root and ascending aorta by the DLE convention following the 2015 American Society of Echocardiography (ASE) adult guidelines and the SIE convention following the 2010 ASE pediatric guidelines. Comparison of the diameters measured by the two conventions in the overall population showed a non-significant underestimation of the diameter measured by the SIE convention at root level of 0.28 mm (CI −1.36; 1.93) and at tubular ascending aorta level of 0.17 mm (CI −1.69; 2.03). Intraobserver and interobserver variability were excellent. Maximum aorta diameter measured by the leading edge convention in end-diastole and the inner edge convention in mid-systole had similar values to a mild non-significant underestimation of the inner-to-inner method that permits them to be interchangeable when used in clinical practice

Restoration of pulmonary valve competence in patients with repaired tetralogy of fallot, short and long-term experience

La tetralogia de Fallot és la cardiopatia congènita cianògena més freqüent. Des de que es va començar a reparar amb èxit a mitjans dels anys 50, els pacients amb aquesta cardiopatia tenen una esperança de vida més llarga incrementant el número de pacients que sobreviuen a l’edat adulta. La regurgitació valvular pulmonar severa és habitual en aquests pacients, requerint freqüentment substitució valvular pulmonar. Actualment, encara no hi ha consens en quin és el moment apropiat i l’abordatge quirúrgic adequat per la substitució valvular pulmonar, sobretot si es vol preservar la funció ventricular i millorar la capacitat funcional i el pronòstic a llarg termini. Aquesta Tesi estudia la supervivència, el risc de reintervenció i d’arítmia ventricular després de la substitució valvular pulmonar, junt amb l’impacte en la capacitat funcional i el rol de les noves tècniques ecocardiogràfiques en pacients amb tetralogia de Fallot reparada. En resum, els resultats d’aquesta Tesi mostren que els pacients amb tetralogia de Fallot reparada han estat operats de la vàlvula pulmonar tard en la seva evolució, i conseqüentment no s’ha aconseguit uns resultats quirúrgics òptims. Encara que subjectivament la classe funcional i les característiques ecocardiogràfiques mostren millora després de la substitució valvular pulmonar, la mesura objectiva tant de la classe funcional com mitjançant les noves tècniques ecocardiogràfiques no mostren una milloria clínica o estadísticament significativa. A més, la supervivència lliure d’esdeveniments de risc vital i la supervivència global són limitades als 15 anys de seguiment, essent per sota del 80% en una població jove, al voltant dels 30 anys d’edat en el moment de la substitució valvular pulmonar. Tot i això, el moment apropiat s’ha de sospesar amb el risc de reintervenció, ja que operar més aviat pot comportar més risc de reintervenció, especialment en menors de 18 anys. Preoperatòriament, la prova d’esforç pot ser convenient per fer una valoració objectiva de la classe funcional. A més, les noves tècniques ecocardiogràfiques poden ser d’ajuda per avaluar el moment òptim i per fer el seguiment d’aquests pacients, aportant un valor afegit a l’estratègia d’estudi vigent. Per últim, el millor moment i la millor estratègia quirúrgica per restaurar la funció valvular pulmonar en pacients amb tetralogia de Fallot reparada encara no està clar. Varis factors destacats en aquesta Tesi haurien de ser considerats i avaluats per un equip multidisciplinar.Tetralogy of Fallot is the most common cyanotic congenital heart disease. Since the first successful repair on the mid 1950s, numerous contributions have been made leading to an increasing population of tetralogy of Fallot repair survivors. Severe pulmonary regurgitation is common in these patients, requiring pulmonary valve replacement (PVR) at some point during follow-up. Uncertainty remains on defining appropriate intervention referral and the optimal surgical approach aiming to preserve ventricular function and improve functional and vital outcomes in these patients. This Thesis studies survival, risk of reintervention, and risk of ventricular arrhythmia, impact on aerobic capacity and the role of novel echocardiographic techniques on a group of patients with repaired tetralogy of Fallot undergoing PVR. In summary, the results of this Thesis show that patients with repaired tetralogy of Fallot have been operated on the pulmonary valve late in their disease process to achieve ideal postoperative outcomes. Even though subjective functional class and qualitative echocardiography show improvement after pulmonary valve replacement, objectively measured exercise capacity and novel quantitative functional echocardiographic techniques show no clinically or statistically relevant improvement. In addition, freedom from life-threatening events and overall survival are poor at 15 year follow-up, being below 80% in a young population with a mean of 30 years of age at PVR. However, the appropriate moment for pulmonary valve replacement needs to be balanced with the risk of pulmonary valve reintervention. Operating sooner may lead to earlier need of reintervention, especially in patients younger than 18 years old. Exercise testing may be convenient preoperatively as an objective functional class assessment. Besides, novel deformational echocardiographic techniques may be helpful to determine optimal timing and can be valuable to ongoing serial evaluation, adding to the current imaging strategy. Importantly, the appropriate moment and the best surgical approach for restoring pulmonary valve function in patients with repaired tetralogy of Fallot are still not clear. Several aspects highlighted in this Thesis should be considered and evaluated by a comprehensive multidisciplinary team

Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies : A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings

Altres ajuts: acords transformatius de la UABDystrophinopathies, such as Duchenne and Becker muscular dystrophy, frequently lead to cardiomyopathy, being its primary cause of mortality. Detecting cardiac dysfunction early is crucial, but current imaging methods lack insight into microstructural remodeling. This study aims to assess the potential of cardiac magnetic resonance (CMR) parametric mappings for early detection of myocardial involvement in dystrophinopathies and explores whether distinct involvement patterns may indicate impending dysfunction. In this prospective study, 23 dystrophinopathy patients underwent CMR with tissue mappings. To establish a basis for comparison, a control group of 173 subjects was analyzed. CMR protocols included SSFP, T2-weighted and T1-weighted sequences pre and post gadolinium, and tissue mappings for native T1 (nT1), extracellular volume (ECV), and T2 relaxation times. The difference between the left ventricular posterior wall and the interventricular septum was calculated to reveal asymmetric myocardial involvement. Significant differences in LV ejection fraction (LVEF), myocardial mass, and late gadolinium enhancement confirmed abnormalities in patients. Tissue mappings: nT1 (p < 0.001) and ECV (p = 0.002), but not T2, displayed substantial variations, suggesting sensitivity to myocardial involvement. Asymmetric myocardial involvement in nT1 (p = 0.01) and ECV (p = 0.012) between septal and LV posterior wall regions was significant. While higher mapping values didn't correlate with dysfunction, asymmetric involvement in nT1 (ρ=-0.472, p = 0.023) and ECV (ρ=-0.460, p = 0.049) exhibited a significant negative correlation with LVEF. CMR mappings show promise in early myocardial damage detection in dystrophinopathies. Although mapping values may not directly correspond to dysfunction, the negative correlation between asymmetric involvement in nT1 and ECV with LVEF suggests their potential as early biomarkers. Larger, longitudinal studies are needed for a comprehensive understanding and improved risk stratification in dystrophinopathies

Restoration of pulmonary valve competence in patients with repaired tetralogy of fallot, short and long-term experience

La tetralogia de Fallot és la cardiopatia congènita cianògena més freqüent. Des de que es va començar a reparar amb èxit a mitjans dels anys 50, els pacients amb aquesta cardiopatia tenen una esperança de vida més llarga incrementant el número de pacients que sobreviuen a l'edat adulta. La regurgitació valvular pulmonar severa és habitual en aquests pacients, requerint freqüentment substitució valvular pulmonar. Actualment, encara no hi ha consens en quin és el moment apropiat i l'abordatge quirúrgic adequat per la substitució valvular pulmonar, sobretot si es vol preservar la funció ventricular i millorar la capacitat funcional i el pronòstic a llarg termini. Aquesta Tesi estudia la supervivència, el risc de reintervenció i d'arítmia ventricular després de la substitució valvular pulmonar, junt amb l'impacte en la capacitat funcional i el rol de les noves tècniques ecocardiogràfiques en pacients amb tetralogia de Fallot reparada. En resum, els resultats d'aquesta Tesi mostren que els pacients amb tetralogia de Fallot reparada han estat operats de la vàlvula pulmonar tard en la seva evolució, i conseqüentment no s'ha aconseguit uns resultats quirúrgics òptims. Encara que subjectivament la classe funcional i les característiques ecocardiogràfiques mostren millora després de la substitució valvular pulmonar, la mesura objectiva tant de la classe funcional com mitjançant les noves tècniques ecocardiogràfiques no mostren una milloria clínica o estadísticament significativa. A més, la supervivència lliure d'esdeveniments de risc vital i la supervivència global són limitades als 15 anys de seguiment, essent per sota del 80% en una població jove, al voltant dels 30 anys d'edat en el moment de la substitució valvular pulmonar. Tot i això, el moment apropiat s'ha de sospesar amb el risc de reintervenció, ja que operar més aviat pot comportar més risc de reintervenció, especialment en menors de 18 anys. Preoperatòriament, la prova d'esforç pot ser convenient per fer una valoració objectiva de la classe funcional. A més, les noves tècniques ecocardiogràfiques poden ser d'ajuda per avaluar el moment òptim i per fer el seguiment d'aquests pacients, aportant un valor afegit a l'estratègia d'estudi vigent. Per últim, el millor moment i la millor estratègia quirúrgica per restaurar la funció valvular pulmonar en pacients amb tetralogia de Fallot reparada encara no està clar. Varis factors destacats en aquesta Tesi haurien de ser considerats i avaluats per un equip multidisciplinar.Tetralogy of Fallot is the most common cyanotic congenital heart disease. Since the first successful repair on the mid 1950s, numerous contributions have been made leading to an increasing population of tetralogy of Fallot repair survivors. Severe pulmonary regurgitation is common in these patients, requiring pulmonary valve replacement (PVR) at some point during follow-up. Uncertainty remains on defining appropriate intervention referral and the optimal surgical approach aiming to preserve ventricular function and improve functional and vital outcomes in these patients. This Thesis studies survival, risk of reintervention, and risk of ventricular arrhythmia, impact on aerobic capacity and the role of novel echocardiographic techniques on a group of patients with repaired tetralogy of Fallot undergoing PVR. In summary, the results of this Thesis show that patients with repaired tetralogy of Fallot have been operated on the pulmonary valve late in their disease process to achieve ideal postoperative outcomes. Even though subjective functional class and qualitative echocardiography show improvement after pulmonary valve replacement, objectively measured exercise capacity and novel quantitative functional echocardiographic techniques show no clinically or statistically relevant improvement. In addition, freedom from life-threatening events and overall survival are poor at 15 year follow-up, being below 80% in a young population with a mean of 30 years of age at PVR. However, the appropriate moment for pulmonary valve replacement needs to be balanced with the risk of pulmonary valve reintervention. Operating sooner may lead to earlier need of reintervention, especially in patients younger than 18 years old. Exercise testing may be convenient preoperatively as an objective functional class assessment. Besides, novel deformational echocardiographic techniques may be helpful to determine optimal timing and can be valuable to ongoing serial evaluation, adding to the current imaging strategy. Importantly, the appropriate moment and the best surgical approach for restoring pulmonary valve function in patients with repaired tetralogy of Fallot are still not clear. Several aspects highlighted in this Thesis should be considered and evaluated by a comprehensive multidisciplinary team