Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.

Background: Thoracic aortic aneurysms are rarely symptomatic but can result in acute aortic syndromes, associated with a high mortality rate. While most cases may be acquired, a genetic basis is evident in approximately 20-25% of the cases, especially among patients under 50 years of age, and those exhibiting syndromic features or family history. Although autosomal dominant inheritance is predominant in familial aortopathies, exceptions exist, such as cutis laxa 1B (CL1B)-related aortic disease, caused by variants in EFEMP2 gene, that follows an autosomal recessive inheritance pattern. Case summary: We present the case of a 26-year-old male with a giant ascending aorta aneurysm and massive pericardial effusion, which was ultimately diagnosed of CL1B due to the p.Ser137Cys variant in the EFEMP2 gene in homozygosis. The patient underwent successful ascending aorta replacement (Bentall´s procedure). There were not complications or further events after 2 years of follow-up. Discussion: This case underscores the importance of genetic testing in young patients presenting with aortopathies, syndromic features, or atypical presentations, irrespective of family history.

Spanish Registry of Acute Aortic Syndrome (RESA). Changes in therapeutic management and lower mortality in acute aortic syndrome.

INTRODUCTION AND OBJECTIVES: 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. METHODS: 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). RESULTS: 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. CONCLUSIONS: 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.

The Importance of the Mediastinal Triangle in Traumatic Lesions of the Aorta.

Background: Trauma-induced aortic injuries continue to be an important factor in morbimortality in patients with blunt trauma. Objectives: To determine the characteristics of aortic lesions in patients with closed thoracic trauma and associated thoracic injuries. Methods: Multicenter cohort study conducted during the years 1994 to 2014 in the radiology service in the University Hospital Complex of A Coruña. Patients >15 years with closed thoracic trauma were included. Sociodemographic and clinical variables were studied in order to determine the lesion cause, location, and degree. Results: We analyzed 232 patients with a mean age of 46.9 ± 18.7 years, consisting of 81.4% males. The most frequent location was at the level of the isthmus (55.2%). The most frequent causes of injury were traffic accidents followed by falls. Patients with aortic injury had more esophageal, airway, and cardiopericardial lesions. More than 85% of the patients had lung parenchyma and/or chest wall injury, which was more prevalent among those who did not have an aortic lesion. Conclusions: Patients with trauma due to traffic accidents or being run over presented three times more risk of aortic injury than from other causes. Those with an aortic lesion also had a higher frequency of cardiopericardial, airway, and esophageal lesions.

Extensa familia con síndrome de Marfan en la que se demuestra la patogenicidad de una variante «sinónima» (p. Ile2118=) en el gen de la fibrilina 1 / A large family with Marfan syndrome demonstrating the pathogenicity of a «synonymous» variant (p. ile2118=) in the fibrillin-1 gene

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[Mitral valve repair using polytetrafluoroethylene neochordae: short-term outcomes]. / Reparación valvular mitral con neocuerdas de politetrafluoroetileno: resultados iniciales.

In recent years, mitral valve repair using polytetrafluoroethylene (PTFE) neochordae has been shown to be an effective technique for correcting valve prolapse due to chordal rupture or elongation. In this study, we evaluated our experience using this technique in a group of 21 patients. The median (range) follow-up period was 9 (1-26) months. There was no in-hospital mortality. During follow-up, improvement in both clinical and echocardiographic parameters were observed: 95.2% of patients were in I-II NYHA class and the mitral regurgitation jet area was less than 4 cm(2) in 85.7% of patients. These findings are consistent with those previously reported in the literature. However, these results relate to our initial experience, and long-term follow-up is still required.

Reparación valvular mitral con neocuerdas de politetrafluoroetileno: resultados iniciales / Mitral valve repair using polytetrafluoroethylene neochordae: short-term outcomes

La cirugía de reparación valvular mitral con neocuerdas de politetrafluoroetileno (PTFE) se ha mostrado en los últimos años como una técnica eficaz en la corrección del prolapso de los velos mitrales debido a rotura o elongación de cuerdas tendinosas. En el presente estudio hemos analizado la experiencia inicial con esta técnica en nuestro centro, con un total de 21 pacientes. La mediana (intervalo) de seguimiento fue de 9 (1-26) meses. No se produjo mortalidad hospitalaria. En el seguimiento se evidenció mejoría clínica (el 95,2% de los pacientes en clase funcional NYHA ≤ II) y ecocardiográfica (el 85,7% de los pacientes con área de regurgitación mitral < 4 cm2). Los resultados se ajustaron a los de las series de referencia previamente publicados, si bien se trata de una experiencia inicial que precisa seguimiento a largo plazo (AU)

In recent years, mitral valve repair using polytetrafluoroethylene (PTFE) neochordae has been shown to be an effective technique for correcting valve prolapse due to chordal rupture or elongation. In this study, we evaluated our experience using this technique in a group of 21 patients. The median (range) follow-up period was 9 (1-26) months. There was no in-hospital mortality. During follow-up, improvement in both clinical and echocardiographic parameters were observed: 95.2% of patients were in I-II NYHA class and the mitral regurgitation jet area was less than 4 cm2 in 85.7% of patients. These findings are consistent with those previously reported in the literature. However, these results relate to our initial experience, and long-term follow-up is still required (AU)