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Introduction and Objectives: Defining the probability of cardiomyopathy in individuals with excessive trabeculation of the left ventricle (ETLV) is an unmet clinical need. Our aims were: a) to describe the incidence and predictors of left ventricular ejection fraction (LVEF) decline and its correlation with major adverse cardiovascular events (MACE); and b) to identify prognostic factors in low-risk individuals., Methods: Retrospective multicenter study in patients with ETLV and suspected cardiomyopathy. Two endpoints were analyzed: a) LVEF decline (> 10% absolute decrease in LVEF with LVEF <50% at follow-up); and b) MACE, a composite of heart failure, ventricular arrhythmias, systemic embolisms, or cardiovascular mortality. Cardiovascular magnetic resonance core-lab analysis was performed in low-risk individuals (LVEF ≥50% and negative late gadolinium enhancement)., Results: A total of 530 patients were included, with a mean age of 44±19 years and 44% were women. The mean LVEF was 49±16%. Over a median echocardiographic follow-up of 4.2 years, 29 patients (6%) showed a decline in LVEF. Late gadolinium enhancement (P=.004) and baseline atrial fibrillation (P=.006) were independently associated with LVEF decline. During a subsequent clinical follow-up of 3.8 years, 106 patients (20%) experienced MACE. Factors that remained associated with MACE after adjustment were baseline LVEF (P<.001), LVEF decline (P=.022), baseline atrial fibrillation (P=.001), and QRS ≥120 ms (P=.009). Among low-risk individuals, left atrial strain correlated with outcomes and distinguished subclinical cardiomyopathy from physiological excessive trabeculation., Conclusions: In ETLV, a decline in LVEF predicts cardiovascular events beyond baseline LVEF. In low-risk individuals, left atrial strain defines the probability of cardiomyopathy. A comprehensive assessment might provide valuable insights for differential diagnosis and risk stratification in this population., (Copyright © 2025 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction and Objectives: Mutations 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)., Methods: We 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., Results: A 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., Conclusions: The p.Pro108Alafs*9 mutation is associated with HCM, high penetrance, and disease onset in middle age., (Copyright © 2016 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction and Objectives: Low-gradient severe aortic stenosis with preserved ejection fraction is a controversial entity. Misclassification of valvulopathy severity could explain the inconsistencies reported in the prognosis of these patients. Planimetry of the aortic area using three-dimensional transesophageal echocardiography could clear up these doubts. The objectives were to assess the agreement between measurements of the valvular aortic area by continuity equation in transthoracic echocardiography and that obtained through planimetry with three-dimensional transesophageal echocardiography in low-gradient severe aortic stenosis patients., Methods: Cross-sectional descriptive study of consecutive patients referred due to severe aortic stenosis. Patients underwent transthoracic echocardiography and three-dimensional transesophageal echocardiography. Paradoxical low-gradient severe aortic stenosis was defined by the presence in the transthoracic echocardiography of aortic valve area<1 cm(2), mean ventricular gradient<40 mmHg, and ejection fraction ≥ 50%. Concordance between the two techniques was evaluated., Results: Of 212 consecutive severe aortic stenosis patients evaluated, 63 cases (29.7%) fulfilled the paradoxical low-gradient inclusion criteria. We obtained three-dimensional aortic valve planimetry in 61 (96.8%) of those patients. In 52 patients (85.2%), aortic valve area by transesophageal echocardiography was <1 cm(2). The intraclass correlation coefficient between the two methods was 0.505 (95% confidence interval, 0.290-0.671; P<.001)., Conclusions: Paradoxical low-gradient severe aortic stenosis is an actual entity, confirmed in 85% of cases evaluated by three-dimensional transesophageal echocardiography., (Copyright © 2012 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.)