Search

Redox stress is involved in the aortic aneurysm pathogenesis in Marfan syndrome (MFS). We recently reported that allopurinol, a xanthine oxidoreductase inhibitor, blocked aortopathy in a MFS mouse model acting as an antioxidant without altering uric acid (UA) plasma levels. Hyperuricaemia is ambiguously associated with cardiovascular injuries as UA, having antioxidant or pro-oxidant properties depending on the concentration and accumulation site. We aimed to evaluate whether hyperuricaemia causes harm or relief in MFS aortopathy pathogenesis. Two-month-old male wild-type (WT) and MFS mice (Fbn1C1041G/+) were injected intraperitoneally for several weeks with potassium oxonate (PO), an inhibitor of uricase (an enzyme that catabolises UA to allantoin). Plasma UA and allantoin levels were measured via several techniques, aortic root diameter and cardiac parameters by ultrasonography, aortic wall structure by histopathology, and pNRF2 and 3-NT levels by immunofluorescence. PO induced a significant increase in UA in blood plasma both in WT and MFS mice, reaching a peak at three and four months of age but decaying at six months. Hyperuricaemic MFS mice showed no change in the characteristic aortic aneurysm progression or aortic wall disarray evidenced by large elastic laminae ruptures. There were no changes in cardiac parameters or the redox stress-induced nuclear translocation of pNRF2 in the aortic tunica media. Altogether, the results suggest that hyperuricaemia interferes neither with aortopathy nor cardiopathy in MFS mice.

Redox stress is involved in the aortic aneurysm pathogenesis in Marfan syndrome (MFS). We recently reported that allopurinol, a recognised inhibitor of XOR, inhibited aortopathy in a mouse model of MFS acting as an antioxidant. Hyperuricaemia is ambiguously associated with cardiovascular injuries as uric acid (UA), having antioxidant or pro-oxidant properties depending on the concentration and accumulation site. We aimed to evaluate whether hyperuricaemia causes harm or relief in MFS aortopathy and cardiopathy pathogenesis. Two-month-old male wild-type (WT) and MFS mice (Fbn1C1041G/+) were injected intraperitoneally for several weeks with potassium oxonate (PO), an inhibitor of uricase, an enzyme that catabolises UA to allantoin. Plasma UA and allantoin levels were measured via several techniques, aortic root diameter and cardiac parameters by ultrasound imaging, aortic wall structure by histopathology, and pNRF2 levels by immunofluorescence. PO induced a significant increase in UA in blood plasma both in WT and MFS mice, reaching a peak at three and four months of age but decaying at six months. Hyperuricaemic MFS mice showed no change in the characteristic aortic aneurysm progression or aortic wall disarray evidenced by large elastic laminae ruptures. There were no changes in cardiac parameters or the redox stress-induced nuclear translocation of pNRF2 in the aortic tunica media. Altogether, the results suggest that hyperuricaemia interferes neither with aortopathy nor cardiopathy in MFS mice.

Arrhythmia; Heritable thoracic aortic disease Arritmia; Enfermedad hereditaria de la aorta torácica Arrítmia; Malaltia hereditària de l'aorta toràcica Background 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

We present the third data release of the Javalambre Local Universe Photometric Survey (J-PLUS) covering more than 3200 square degrees of the northern sky. J-PLUS is an ongoing photometric survey with 12 optical bands observing thousands of square degrees of the sky from the JAST80 telescope at the Observatorio Astrofísico de Javalambre (OAJ). T80Cam is a 2 deg² field-of-view (FoV) camera mounted on JAST80, and is equipped with a unique system of filters spanning the entire optical range (3500 − 10000 Å), optimally designed to extract the rest-frame spectral features that are key to both characterize stellar types and to deliver a low-resolution photo-spectrum for each observed object. With a typical depth (5σ in 3 arcsec aperture) of AB ∼ 20.7 mag per band, data containing about 15 million stars and 10 million galaxies at r < 21 mag are going to be released by the end of 2022. We also present announce some relevant scientific results obtained with J-PLUS., Missing links to J-PLUS e-posters added

Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis. This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up. This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance. MACE were defined as heart failure (HF), ventricular arrhythmias (VAs), systemic embolisms, or all-cause mortality. A total of 585 patients were included (45 ± 20 years of age, 57% male). LV ejection fraction (LVEF) was 48% ± 17%, and 18% presented late gadolinium enhancement (LGE). After a median follow-up of 5.1 years, MACE occurred in 223 (38%) patients: HF in 110 (19%), VAs in 87 (15%), systemic embolisms in 18 (3%), and 34 (6%) died. LVEF was the main variable independently associated with MACE (P < 0.05). LGE was associated with HF and VAs in patients with LVEF >35% (P < 0.05). A prediction model of MACE was developed using Cox regression, composed by age, sex, electrocardiography, cardiovascular risk factors, LVEF, and family aggregation. C-index was 0.72 (95% confidence interval: 0.67-0.75) in the derivation cohort and 0.72 (95% confidence interval: 0.71-0.73) in an external validation cohort. Patients with no electrocardiogram abnormalities, LVEF ≥50%, no LGE, and negative family screening presented no MACE at follow-up. LVNC is associated with an increased risk of heart failure and ventricular arrhythmias. LVEF is the variable most strongly associated with MACE; however, LGE confers additional risk in patients without severe systolic dysfunction. A risk prediction model is developed and validated to guide management. The project was partially funded by a grant from the Catalan Society of Cardiology (Barcelona, Spain). Hospital Universitario Virgen de la Arrixaca (Murcia, Spain) was supported by a grant from the Foundation Marató TV3 (218/C/2015) (Barcelona, Spain). Hospital Universitario y Politécnico La Fe (Valencia, Spain) was partially supported by Fondo Europeo de Desarrollo Regional (“Unión Europea, Una forma de hacer Europa”) (Madrid, Spain) and the Instituto de Salud Carlos III (La Fe Biobank PT17/0015/ 0043) (Madrid, Spain). Dr Guala was supported by funding from the Spanish Ministry of Science, Innovation and Universities (IJC2018-037349-I) (Madrid, Spain). Dr La Mura was supported by a research grant from the Cardiopath PhD program (Naples, Italy). Prof de la Pompa was supported by grants PID2019-104776RB-I00 and CB16/11/00399 (CIBER CV) from the Spanish Ministry of Science, Innovation and Universities. Dr Bayes-Genis was supported by grants from CIBER Cardiovascular (CB16/11/00403 and 16/11/00420) (Madrid, Spain) and AdvanceCat 2014-2020 (Barcelona, Spain); and has received advisory board and lecture fees from Novartis, Boehringer Ingelheim, Vifor, Roche Diagnostics, and Critical Diagnostics. Dr Pontone has received speaker honorarium and/or institutional research grants from GE Healthcare, Bracco, Boehringer Ingelheim, and HeartFlow. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. Sí

Ground-based and airborne instrumentation for astronomy IX (2022), Montreal, JUL 17-22, 2022.--Proceedings of SPIE - The International Society for Optical Engineering vol. 12184 Article number 121840M.-- Complete list of authors: Marin-Franch, A.; Rueda-Teruel, S.; Lopez Alegre, G.; Iniguez, C.; Vazquez Ramio, H.; Ederoclite, A.; Bello, R.; Royo-Navarro, M.; Casino-Martin, J. M.; Lozano-Perez, D.; Molina-Ibanez, E. L.; Rueda-Teruel, F.; Yanes-Diaz, A.; del Pino, A.; Lopez-Sanjuan, C.; Cenarro, A. J.; Cristobal-Hornillos, D.; Hernan-Caballero, A.; Moles, M.; Varela, J.; Bielsa de Toledo, S.; Chueca, S.; Domingez-Martinez, M.; Garces-Cubel, D.; Martinez-Olivar, N.; Munoz-Maudos, J.; Rueda-Asensio, H.; Soriano-Laguia, I.; Castillo, J.; Civera, T.; Hernandez-Fuertes, J.; Lopez-Sainz, A.; Moreno-Signes, A.; Muniesa-Gallardo, D.; Taylor, K.; Santoro, F.; Cepa, J.; Fermino, C.; Bastable, M.; Haddow, G.; Palmer, I.; Simpson, C.; Spatola, A.; Sweeney, H.; Tatard, C.; Watkins, M.; Brauneck, U.; Casalta, J. M.; Abramo, R.; Alcaniz, J.; Benitez, N.; Bonoli, S.; Carneiro, S.; Dupke, R.; Mendes de Oliveira, C.; Sodre, L., Jr.; Vilchez, J., Commissioning results, on-sky performance and first operations of the Javalambre Panoramic Camera (JPCam) are presented in this paper. JPCam is a 1.2 Gpixel camera deployed on the 2.6m, large field-of-vie Javalambre Survey Telescope (JST250) at the Observatorio Astrofisico de Javalambre. JPCam has been conceived to perform J-PAS, a photometric survey of several thousand square degrees of the northern sky in 56 optical bands, 54 of them narrow-band filters (145 angstrom FWHM), contiguous and equi-spaced between 370 and 920nm, producing a low resolution photo-spectrum of every pixel of the observed sky, hence promising crucial breakthroughs in Cosmology and galaxy formation and evolution. JPCam has been designed to maximize field-of-view and wavelength coverage while guaranteeing a high image quality over the entire focal plane. To this aim, JPCam is equipped with a mosaic of 14 9.2k x 9.2k, 10 mu m pixel, low noise detectors from Teledyne-E2V, providing a FoV of 4.1 square degrees with a plate scale of 0.2267''/pix. In full frame mode, camera electronics allows read times of 10.9s at 633kHz read frequency (16.4s at 400kHz) with a readout noise of 5.5e(-) (4.3e(-)). Its filter unit admits 5 filter trays, each mounting 14 filters corresponding to the 14 CCDs of the mosaic and allowing all the J-PAS filters to be permanently installed. To fully optimize image quality, position of JST250 secondary mirror and JPCam focal plane are maintained optically aligned by means of two hexapod systems. To perform this task, JPCam includes 12 auxiliary detectors, 4 for autoguiding and 8 for image quality control through wavefront sensing., Based on observations made with the JST250 telescope and JPCam at the Observatorio Astrofisico de Javalambre (OAJ), in Teruel, owned, managed, and operated by the Centro de Estudios de Fisica del Cosmos de Aragon (CEFCA). We acknowledge the OAJ Data Processing and Archiving Unit (UPAD) for reducing and calibrating the OAJ data used in this work. Funding for the J-PAS Project has been provided by the Governments of Spain and Aragon through the Fondo de Inversion de Teruel, European FEDER funding and the Spanish Ministry of Science, Innovation and Universities, and by the Brazilian agencies FINEP, FAPESP, FAPERJ and by the National Observatory of Brazil. Additional funding was also provided by the Tartu Observatory and by the J-PAS Chinese Astronomical Consortium., With funding from the Spanish government through the Severo Ochoa Centre of Excellence accreditation SEV-2017-0709

Resumen Introduccion y objetivos El sindrome aortico agudo (SAA) tiene una alta mortalidad que obliga a un tratamiento precoz. El proposito del presente estudio es analizar los cambios en el abordaje y el tratamiento del SAA a lo largo de 20 anos. Metodos Se incluyo prospectivamente a 451 pacientes (336 varones; media de edad, 60,9 ± 12,4 anos) diagnosticados de SAA, 270 con el tipo A y 181 con el tipo B, desde 1999 hasta 2018. Se analizaron variables clinicas, diagnosticas y del tratamiento y las complicaciones hospitalarias. Resultados El uso de la tomografia computarizada (TC) como primera tecnica diagnostica se incremento del 62,8 al 94,2% (p Conclusiones El diagnostico y el tratamiento del SAA han presentado importantes cambios en las ultimas 2 decadas. La TC se ha consolidado como la tecnica diagnostica de eleccion. La mortalidad del SAA tipo A ha disminuido de manera muy importante debido a la mejora de los resultados del tratamiento quirurgico. En el SAA tipo B, el tratamiento medico solo se ha reducido debido a la aparicion del tratamiento endovascular, pero la mortalidad hospitalaria no ha disminuido de manera significativa.

Ascending 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.

Cardiac amyloidosis (CA) is produced by amyloid fiber deposition in the myocardium. The most frequent forms are those caused by light chains (AL) and transthyretin (ATTR). Our objective was to describe the diagnosis, treatment and outcomes of CA in a specialized Spanish center.We included all patients diagnosed with CA in Hospital Universitario Puerta de Hierro Majadahonda from May 2008 to September 2018. We analyzed their clinical characteristics, outcomes, and survival.We included 180 patients with CA, of whom 64 (36%) had AL (50% men; mean age, 65±11 years) and 116 had ATTR (72% men; mean age 79±11 years; 18 with hereditary ATTR). The most common presentation was heart failure in both groups (81% in AL and 45% in ATTR, P.01). Other forms of presentation in ATTR patients were atrial arrhythmias (16%), conduction disorders (6%), and incidental finding (6%); 70 patients (40%), had a previous alternative cardiac diagnosis. Diagnosis was noninvasive in 75% of ATTR patients. Diagnostic delay was higher in ATTR (2.8±4.3 vs 0.6±0.7 years, P.001), but mortality was greater in AL patients (48% vs 32%, P=.028). Independent predictors of mortality were AL subtype (HR, 6.16; 95%CI, 1.56-24.30; P=.01), female sex (HR, 2.35; 95%CI, 1.24-4.46; P=.01), and NYHA functional class III-IV (HR, 2.07; 95%CI, 1.11-3.89; P=.02).CA is a clinical challenge, with wide variability in its presentation depending on the subtype, leading to diagnostic delay and high mortality. Improvements are needed in the early diagnosis and treatment of these patients.

The Observatorio Astrof\'isico de Javalambre (OAJ{\dag}1) in Spain is a young astronomical facility, conceived and developed from the beginning as a fully automated observatory with the main goal of optimizing the processes in the scientific and general operation of the Observatory. The OAJ has been particularly conceived for carrying out large sky surveys with two unprecedented telescopes of unusually large fields of view (FoV): the JST/T250, a 2.55m telescope of 3deg field of view, and the JAST/T80, an 83cm telescope of 2deg field of view. The most immediate objective of the two telescopes for the next years is carrying out two unique photometric surveys of several thousands square degrees, J-PAS{\dag}2 and J-PLUS{\dag}3, each of them with a wide range of scientific applications, like e.g. large structure cosmology and Dark Energy, galaxy evolution, supernovae, Milky Way structure, exoplanets, among many others. To do that, JST and JAST are equipped with panoramic cameras under development within the J-PAS collaboration, JPCam and T80Cam respectively, which make use of large format (~ 10k x 10k) CCDs covering the entire focal plane. This paper describes in detail, from operations point of view, a comparison between the detailed cost of the global automation of the Observatory and the standard automation cost for astronomical facilities, in reference to the total investment and highlighting all benefits obtained from this approach and difficulties encountered. The paper also describes the engineering development of the overall facilities and infrastructures for the fully automated observatory and a global overview of current status, pinpointing lessons learned in order to boost observatory operations performance, achieving scientific targets, maintaining quality requirements, but also minimizing operation cost and human resources., Comment: Global Observatory Control System GOCS

Background Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS) and related heritable thoracic aortic diseases (HTAD) are well-known for their aortic complications. Myocardial dysfunction and arrhythmia are less known in this setting but have been increasingly reported as additional causes of morbidity and mortality. Related to the rarity of the disorders, data on the prevalence of these features and clinical characteristics of the patients are difficult to obtain, calling for a multicentre initiative. Purpose To study the prevalence of myocardial dysfunction and arrhythmia in patients with HTAD and describe their clinical and genetic profile. Methods Nine centres from seven countries participated in this multicentre retrospective study. Medical records of patients 12 years or older carrying a (likely) pathogenic variant in the FBN1 gene, LDS genes (TGFBR1, TGFBR2, TGFB2, TGFB3 and SMAD3) or ACTA2 gene were screened. Patients presenting myocardial dysfunction and/or arrhythmia were identified, and clinical and genetic data were collected. Myocardial dysfunction included (a)symptomatic reduced ejection fraction (EF Results In total, 3219 patients with HTAD were screened: 2761 with a variant in FBN1, 385 with a variant in one of the LDS genes (TGFBR1, TGFBR2, TGFB2, TGFB3 and SMAD3) and 73 carrying a variant in ACTA2. Myocardial dysfunction and arrhythmia were not reported in patients carrying an ACTA2 variant. Myocardial dysfunction was observed in patients with a variant in FBN1 and the LDS genes, without significant differences in prevalence (2.3% vs. 1.8%, p=0.563). Patients with a variant in the LDS genes presenting myocardial dysfunction were younger than patients carrying a variant in FBN1 (25±11 years vs. 39±17 years, p=0.034). The prevalence of VT/VF/SCD was similar in patients with a variant in one of the LDS genes compared to those with a variant in FBN1 (1.6% vs. 0.8%, p=0.132) and there was no difference in age at time of event (26±13 years vs. 33±14 years, p=0.289). Among patients with a variant in the LDS genes, the prevalence of VT/VF/SCD was highest in patients carrying a variant in the TGFBR2 gene and was significantly higher compared to patients with a variant in FBN1 (3.4% vs. 0.8%, p=0.017). In contrast, AF/AFL was significantly more often reported in patients with a variant in FBN1 compared to those with a variant in one of the LDS genes (1.7% vs. 0.3%, p=0.033). Conclusions Myocardial dysfunction and arrhythmia are rare features in patients with HTAD. They occur predominantly in patients with a variant in FBN1 and LDS genes, but were not reported in patients carrying a variant in the ACTA2 gene. Further analysis to identify other contributing factors is necessary. Funding Acknowledgement Type of funding sources: None. Figure 1

The Spanish Registry of Acute Aortic Syndrome (RESA) was launched in 2005 to identify the characteristics of acute aortic syndrome (AAS) in Spain. The aim of this study was to analyze the differences in management and mortality in the 3 RESA iterations.We analyzed data from patients with AAS prospectively included by 24 to 30 tertiary centers during the 3 iterations of the registry: RESA I (2005-2006), RESA-II (2012-2013), and RESA III (2018-2019).AAS was diagnosed in 1902 patients (74% men; age, 60.7±12.5 years): 1329 (69.9%) type A and 573 (30.1%) type B. Comparison of the 3 periods revealed that the use of computed tomography increased as the first diagnostic technique (77.1%, 77.9%, and 84.2%, respectively; P=.001). In type A, surgical management increased (79.6%, 78.7%, and 84.5%; P=.045) and overall mortality decreased (41.2%, 34.5%, and 31.2%; P=.002), due to a reduction in surgical mortality (33.4%, 25.1%, and 23.9%; P=.003). In type B, endovascular treatment increased (22.8%, 32.8%, and 38.7%; P=.006), while medical and surgical treatment decreased. Overall type B mortality also decreased (21.6%, 16.1%, and 12.0%; P=.005) in line with a reduction in mortality with medical (16.8%, 13.8%, and 8.8%, P=.030) and endovascular (27.0%, 18.0%, and 9.2%; P=.009) treatments.The iterations of RESA show a decrease in mortality from type A AAS, coinciding with an increase in surgical treatment and a reduction in surgical mortality. In type B, the use of endovascular treatment was associated with improved survival, allowing better management in patients with complications.

Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): La Marató de TV3, Instituto de Salud Carlos III through the project and Spanish Ministry of Science, Innovation and Universities. BACKGROUND Loeys-Dietz (LDS) and Marfan (MFS) syndromes are rare genetic connective tissue disorders associated with progressive aortic dilation, however, aortic dissections have been observed at lower aortic root diameters in LDS than in MFS. Recent CMR studies in MFS patients reported increased aortic stiffness (1–3) and altered rotational flow (4), but research on aortic flow dynamics and biomechanics in LDS is lacking. PURPOSE The aim of this study was to assess rotational aortic flow and aortic stiffness in LDS compared to healthy volunteers (HV) and MFS patients, using 4Dflow CMR. METHODS Twenty-one LDS and 44 MFS patients, without previous aortic dissection or surgery, and 43 HV underwent a non-contrast-enhanced 4D flow CMR. Aortic stiffness was quantified at the AAo and DAo using pulse wave velocity (PWV). In-plane rotational flow (IRF), systolic flow reversal ratio (SFRR) (5) and local aortic diameters were obtained at 20 equidistant planes from the ascending (AAo) to the proximal descending aorta (DAo). RESULTS LDS patients had lower IRF at the distal AAo and proximal DAo compared to HV (p = 0.053 and 0.004, respectively), once adjusted for age, stroke volume and local aortic diameter; but no differences were found with respect to MFS (Figure). Although SFRR at the proximal DAo was increased in LDS patients compared to both HV (p = 0.037) and MFS populations (p = 0.015), once adjusted for age and aortic diameter, the difference in magnitude was small (Figure). On the other hand, AAo and DAo PWV revealed stiffer aortas in LDS patients compared to HV but no differences versus MFS patients (Table). CONCLUSIONS Patients with Loeys-Dietz syndrome showed decreased in-plane rotational flow and abnormally-high regional aortic stiffness compared to healthy controls, and similar hemodynamics and aortic stiffness with respect to patients with Marfan syndrome.

Objective: Cardiac amyloid infiltration can lead to systolic heart failure (HF) or to conduction disorders (CD). Patients with transthyretin (ATTR) amyloidosis are particularly exposed. We ...

Resumen Introduccion y objetivos La enfermedad de Danon (ED) es una enfermedad producida por mutaciones en el gen LAMP2. Se la considera una enfermedad multisistemica caracterizada por miocardiopatia hipertrofica con preexcitacion e hipertrofia extrema, discapacidad intelectual, miopatia, presentacion infantil y peor pronostico en varones. Hay pocas series que permitan conocer las caracteristicas clinicas y el pronostico de la ED. Metodos Se analizaron los registros clinicos de los pacientes con ED de 10 hospitales espanoles. Resultados Se incluyo a 27 pacientes (edad, 31 ± 19 anos; el 78% mujeres). Los varones mostraron una elevada prevalencia de manifestaciones extracardiacas —miopatia (80%), trastornos del aprendizaje (83%) y alteraciones visuales (60%)— que eran infrecuentes en las mujeres (el 5, el 0 y el 27% respectivamente). Aunque la miocardiopatia hipertrofica era la cardiopatia mas habitual (61%), el grosor ventricular maximo fue 15 ± 7 mm y 12 pacientes (10 mujeres) presentaron miocardiopatia dilatada. Solo 11 pacientes (49%) mostraron preexcitacion y en 16 (65%) la enfermedad se inicio despues de los 20 anos. Tras una mediana de seguimiento de 4 anos [intervalo intercuartilico, 2-9], 4 varones (67%) y 9 mujeres (43%) fallecieron o se sometieron a trasplante. El dano cardiaco y los eventos adversos ocurrieron mas tardiamente en las mujeres (37 ± 9 frente a 23 ± 16 anos y 36 ± 20 frente a 20 ± 11 anos). Conclusiones Las caracteristicas clinicas de la ED difieren sustancialmente de lo considerado tradicionalmente. La edad de presentacion de la ED es mas tardia, no se expresa como una enfermedad multisistemica en las mujeres y la preexcitacion es poco frecuente.

Aortic branch aneurysms are not included in the diagnostic criteria for Marfan syndrome (MFS); however, their prevalence and eventual prognostic significance are unknown.The goal of this study was to assess the prevalence of aortic branch aneurysms in MFS and their relationship with aortic prognosis.MFS patients with a pathogenic FBN1 genetic variant and at least one magnetic resonance or computed tomography angiography study assessing aortic branches were included. Aortic events and those related to aneurysm complications were recorded during follow-up.A total of 104 aneurysms were detected in 50 (26.7%) of the 187 patients with MFS (mean age 37.9 ± 14.4 years; 54% male) included in this study, with the iliac artery being the most common location (45 aneurysms). Thirty-one patients (62%) had1 peripheral aneurysm, and surgery was performed in 5 (4.8%). Patients with aneurysms were older (41.9 ± 12.7 years vs. 36.7 ± 14.8 years; p = 0.040) and had more dilated aortic root (42.2 ± 6.4 mm vs. 38.8 ± 8.0 mm; p = 0.044) and dyslipidemia (31.0% vs. 9.7%; p = 0.001). In a subgroup of 95 patients with no previous aortic surgery or dissection followed up for 3.3 ± 2.6 years, the presence of arterial aneurysms was associated with a greater need for aortic surgery (hazard ratio: 3.4; 95% confidence interval: 1.1 to 10.3; p = 0.028) in a multivariable Cox analysis adjusted for age and aortic diameter.Aortic branch aneurysms are present in one-quarter of patients with MFS and are related to age and aortic dilation, and they independently predict the need for aortic surgery. The systematic use of whole-body vascular assessment is recommended to identify other sites of vascular involvement at risk for complications and to define the subgroup of patients with more aggressive aortic disease.