Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

Quince años de intervencionismo percutáneo de la oclusión total coronaria crónica.: Experiencia, resultados y pronóstico clínico

Introduction and objectives: Chronic total coronary occlusion (CTO) is often a complex entity to deal with through a percutaneous coronary intervention, and the clinical benefits of successful recanalization still remain uncertain. Most registries feature data in limited time periods and do not reflect the impact that specific dedicated programs have on recanalization. Our study evaluates the results of a CTO program on a long-term period of time. Methods: All patients’ CTOs treated with percutaneous coronary interventions at our center from 2002 through 2017 were prospectively included in the registry. The clinical, angiographic and procedural data were collected, and clinical follow-up was conducted. Three consecutive periods of time were considered for the analysis of temporal trends. Results: A total of 424 CTOs (408 patients) were included. In 339 patients (80%) the procedure was successful. The rate of success increased over time, from 57% in 2002-2006 to 87% in 2012-2017 (P = .001). The most important independent predictor of procedural failure was lesion tortuosity. After a median follow-up of 39.7 months, the rates of major adverse cardiovascular events and cardiovascular mortality in success vs failed groups were 13.9% vs 24.7% (P = .015) and 3.6% vs 14.1% (P = .001), respectively. These were the independent predictors of cardiovascular mortality: chronic kidney disease, left anterior descending artery occlusion, and procedural failure. Conclusions: Our series shows a high rate of success in CTO recanalization, which has increased over the last few years due to greater expertise and improved program-specific technical advances. Several angiographic and procedural variables have been identified as predictors of failure. Successful procedures, especially on the left anterior descendent coronary artery, were associated with lower rates of cardiovascular mortality.Introducción y objetivos: La oclusión total coronaria crónica (OTC) es generalmente compleja de abordar con intervencionismo percutáneo y el beneficio clínico de su recanalización sigue siendo incierto. La mayoría de los registros aportan datos limitados en el tiempo y no reflejan el impacto de un programa específico para su tratamiento. Nuestro estudio evalúa los resultados de un programa de OTC a largo plazo. Métodos: Se incluyeron de forma prospectiva todos los pacientes tratados con un intento de revascularización percutánea de una OTC entre los años 2002 y 2017. Se obtuvieron datos clínicos, angiográficos, intraprocedimiento y del seguimiento. Se consideraron 3 periodos temporales consecutivos para el análisis. Resultados: Se incluyeron 408 pacientes (424 OTC). La desobstrucción tuvo éxito en 339 lesiones (80%). El éxito se incrementó con el tiempo, de un 57% en 2002-2006 a un 87% en 2012-2017 (p = 0,001). El predictor independiente más potente de procedimiento fallido fue la tortuosidad intralesional. Tras una mediana de seguimiento de 39,7 meses, las tasas de eventos adversos cardiacos mayores y de muerte cardiaca en los grupos de éxito y fracaso fueron del 13,9 frente al 24,7% (p = 0,015) y del 3,6 frente al 14,1% (p = 0,001), respectivamente. Los predictores independientes de mortalidad cardiaca fueron la insuficiencia renal crónica, la oclusión de la arteria descendente anterior y el fallo del procedimiento. Conclusiones: Nuestra serie muestra unas tasas elevadas de éxito en la recanalización de una OTC, incrementada en los últimos años debido a la experiencia y al desarrollo técnico del programa. Se han identificado numerosas variables clínicas y angiográficas como predictoras de fallo del procedimiento. El éxito en el procedimiento, en especial en la arteria descendente anterior, se asoció con una menor mortalidad cardiaca