Cirugía cardiaca en Costa Rica: caracterización de los pacientes en el Hospital San Juan de Dios del 2010 al 2015

Resumen: Introducción y objetivos: En Costa Rica existe limitada literatura en cirugía cardiaca. Este estudio pionero en el país caracteriza clínica y sociodemográficamente los pacientes tratados mediante cirugía cardiaca en el Hospital San Juan de Dios, con el objetivo de comunicar a la comunidad científica los resultados de este centro en el contexto de la Seguridad Social de Costa Rica. El estudio pretende además identificar factores de riesgo que inciden sobre la mortalidad global y con ello optimizar los cuidados perioperatorios de los pacientes. Métodos: Estudio observacional y retrospectivo, a partir de la base de datos del Servicio de Cirugía Cardiaca del Hospital San Juan de Dios, entre enero del 2010 y diciembre del 2015. Se registraron y analizaron estadísticamente variables de antecedentes clínicos, quirúrgicos y evolución hospitalaria. Resultados: Seiscientos noventa y dos pacientes, predominio sexo masculino (63,9%); edad media 57,1 ± 13,9 años; al menos una complicación postoperatoria en el 41% y mortalidad del 14,9%. Distribución de cirugías realizadas: valvular (47,8%), revascularización miocárdica (31,5%), aorta ascendente y cayado (6,9%), combinada coronario-valvular (5,8%), cardiopatía congénita en el adulto (4,2%) y cardiaca miscelánea (3,8%). Resultaron predictores de mortalidad: EuroSCORE, péptido natriurético tipo B y escala funcional de New York Heart Association. Puntos de inflexión con respecto a mortalidad: 250 pg/ml para péptido natriurético tipo B preoperatorio, 149 min para tiempo de circulación extracorpórea y 84 min para tiempo de pinzamiento aórtico. Conclusiones: A través de este estudio de caracterización de los pacientes tratados mediante cirugía cardiaca durante el periodo del 2010 al 2015, se permite analizar el desempeño del Servicio en el Hospital San Juan de Dios, lo que resulta esencial en la evaluación y la mejora de la calidad del tratamiento quirúrgico brindado a los pacientes con enfermedad cardiaca dentro de la Seguridad Social de Costa Rica. Abstract: Introduction and objectives: In Costa Rica there is limited literature on cardiac surgery. This pioneering study in the country characterizes, clinically and sociodemographically, patients who underwent cardiac surgery at Hospital San Juan de Dios, with the aim of communicating to the scientific community the results of this center in the context of Costa Rica's Social Security. The study also aims to identify risk factors that affect global mortality and thereby optimize patients’ perioperative care. Methods: Observational, retrospective study, from the Cardiac Surgery Department database at Hospital San Juan de Dios, between January 2010 and December 2015. Clinical history, surgical and hospital evolution variables were recorded and statistically analyzed. Results: 692 patients, male predominance (63.9%); mean age 57.1 ± 13.9 years; at least one postoperative complication in 41% and mortality of 14.9%. Surgical distribution: valvular (47.8%), coronary artery bypass grafting (31.5%), ascending aorta and arch (6.9%), combined coronary artery bypass grafting - valvular (5.8%), adult congenital heart disease (4.2%), and cardiac miscellaneous (3.8%). EuroSCORE, preoperative B-type natriuretic peptide and New York Heart Association functional scale resulted in mortality predictors. Inflection points for mortality: 250 pg/mL for preoperative B-type natriuretic peptide, 149 min for extracorporeal circulation time and 84 min for aortic clamping time. Conclusions: Through this characterization study of patients who underwent cardiac surgery during the period between 2010 and 2015, it is possible to evaluate the performance of the Department at Hospital San Juan de Dios, which is essential for analysis and improvement of quality of surgical treatment provided to patients with cardiac pathology within Costa Rica's Social Security System. Palabras clave: Cirugía cardiaca, Registro, Base de datos, Keywords: Cardiac surgery, Registry, Databas

Rubinstein-Taybi syndrome in diverse populations

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations

Williams-Beuren syndrome in diverse populations

Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value < 0.001 for all comparisons), with accuracies for Caucasian, African, Asian, and Latin American groups of 0.92, 0.96, 0.92, and 0.93, respectively. In summary, we present consistent clinical findings from global populations with WBS and demonstrate how facial analysis technology can support clinicians in making accurate WBS diagnoses