Identification of clinically relevant phenotypes in patients with Ebstein anomaly.

BACKGROUND: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. HYPOTHESIS: Phenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors. METHODS: A comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out. The most prevalent comorbidities and distinct subgroups within the patient cohort were identified through cluster analysis. RESULTS: The most prevalent cardiac comorbidities identified were atrial septal defect (61%), Wolff-Parkinson-White syndrome (WPW; 27%), and right ventricular outflow tract obstruction (25%). Cluster analysis showed that patients can be classified into 2 distinct subgroups with defined phenotypes that determine disease severity and survival. Patients in cluster 1 represented a particularly homogeneous subgroup with a milder spectrum of disease, including only patients with WPW and/or supraventricular tachycardia (SVT). Cluster 2 included patients with more diverse cardiovascular comorbidities. CONCLUSIONS: This study represents one of the largest phenotypic characterizations of EA patients reported. The data show that EA is a heterogeneous disease, very frequently associated with cardiovascular and noncardiovascular comorbidities. Patients with WPW and SVT represent a homogeneous subgroup that presents with a less severe spectrum of disease and better survival when adequately managed. This should be considered when searching for genetic causes of EA and in the clinical setting.

Hidrodinámica aplicada a la gestión y la conservación de ecosistemas marinos y costeros: Isla Gorgona, Océano Pacífico Colombiano / Hydrodynamics applied to the management and conservation of marine and coastal ecosystems: Gorgona Island, Colombian Pacific Ocean

Palmeras (Gorgona National Park) is one of the most important sites for sea turtle nesting in South and Central America. Because of the morphological processes affecting the beach, the turtle nests are increasingly exposed to the impact of waves and tides, threatening conservation. A study was made to determine the hydrodynamical processes of the zone adjacent to Playa Palmeras, which affects directly the morphodynamical behavior of the beach and thus the preservation of the nests. Field measurements and numerical modeling were used to obtain the general circulation patterns and thermohaline structure behavior in the area in order to determine the spatial and temporal variability of waves and its effects on the beach. A marked seasonality was found, both in the waves and the currents, influenced mainly by the meridional displacement of the ITCZ (Inter-Tropical Convergence Zone) and an interannual variability of the waves, associated with ENSO (El Niño Southern Oscillation). The flooding levels of the beach were determined and flooding probability maps were made, where safer sites to locate the turtle nests could be identified. These maps serve the officials responsible of monitoring the turtles as a tool to take decisions on moving the nests, since they have flood risk information for any point on the beach. The results show that the middle zone north of the beach is the one with the lowest risk of flooding, therefore the most appropriate zone to relocate nests that are in high risk areas. Rev. Biol. Trop. 62 (Suppl. 1): 133-147. Epub 2014 February 01.

Playa Palmeras (En el Parque Nacional Isla Gorgona) es uno de los sitios más importantes para la anidación de tortugas marinas en América del Sur y Centroamérica. Debido a procesos morfológicos que afectan la playa, los nidos de las tortugas se han visto cada vez más expuestos al impacto del oleaje y la marea, poniendo en riesgo la conservación de éstas especies. Se llevó a cabo un estudio para conocer los procesos hidrodinámicos de la zona costera en Playa Palmeras, de los cuales depende el comportamiento morfodinámico de la playa y la preservación de los nidos. Se usó modelación numérica y mediciones en campo para conocer la variabilidad espacio-temporal del oleaje y obtener los patrones generales de circulación y la estructura termohalina de la zona. Se encontró un marcado ciclo anual, tanto en el oleaje como en las corrientes, influenciado por la Zona de Convergencia Intertropical (ZCIT) y una variabilidad interanual del oleaje, asociada a El Niño Oscilación del Sur (ENSO). Se estimó la cota de inundación de la playa y se crearon mapas de probabilidad de inundación, identificando los sitios potencialmente más seguros para la anidación. Los resultados muestran que hacia el norte de la playa está la zona de menor riesgo.