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Percutaneous surgery is the treatment of choice of isolated aortic coarctation in adults However, when there are other heart problems related to aortic coarctation, its surgical management may vary. We report a 41-year-old male presenting with aortic coarctation associated with severe, symptomatic, bicuspid aortic valve lesions and significant left ventricular dysfunction. He underwent open heart surgery for the surgical resolution of these problems. One year after surgery the results are satisfactory with no evidence of postoperative complications and a significant improvement of patient symptoms and left ventricular function.

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Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individuals who share the same causative variant, suggesting the existence of additional genetic variants that modify the severity of the cardiovascular phenotype in MFS. We recruited MFS patients and classified them into severe (n = 8) or mild aortic phenotype (n = 14) according to age of presentation of the first aorta-related incident. We used Exome Sequencing to identify the genetic variants associated with the severity of aortic manifestations and we performed linkage analysis where suitable. We found five genes associated with severe aortic phenotype and three genes that could be protective for this phenotype in MFS. These genes regulate components of the extracellular matrix, TGFß pathway and other signaling pathways that are involved in the maintenance of the ECM or angiogenesis. Further studies will be required to understand the functional effect of these variants and explore novel, personalized risk management and, potentially, therapies for these patients.

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Percutaneous surgery is the treatment of choice of isolated aortic coarctation in adults However, when there are other heart problems related to aortic coarctation, its surgical management may vary. We report a 41-year-old male presenting with aortic coarctation associated with severe, symptomatic, bicuspid aortic valve lesions and significant left ventricular dysfunction. He underwent open heart surgery for the surgical resolution of these problems. One year after surgery the results are satisfactory with no evidence of postoperative complications and a significant improvement of patient symptoms and left ventricular function.

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INTRODUCCIÓN: El dispositivo MyVal balón-expandible (Meril Life Sciences, India) fue recientemente aprobado en Chile y la Unión Europea para uso comercial. El objetivo del presente estudio fue proveer datos de eficacia y seguridad temprana y de mediano plazo en pacientes portadores de estenosis aórtica (EA) severa de alto riesgo quirúrgico sometidos a reemplazo valvular aórtico percutáneo (RVAP) con dispositivo MyVal. MATERIAL Y MÉTODOS: Se enrolaron retrospectivamente todos los pacientes con EA severa sintomática de alto riesgo según criterio del ´heart team´ local, sometidos a RVAP usando prótesis MyVal en Hospital San Borja Arriarán. RESULTADOS: La población quedó compuesta por 14 sujetos tratados entre Octubre 2018 y Noviembre 2019. La población tuvo una edad media de 82,5±7,8 años y elevado perfil de riesgo (puntaje STS promedio 11,6±5,1% de mortalidad a 30 días). Se logró éxito de dispositivo y procedimiento en 12 pacientes (86%) con caída sustancial de la gradiente aórtica media, persistente a 6 meses de seguimiento sin insuficiencia aórtica más que leve. Ocurrió falla de dispositivo en 2 pacientes, una debida a falla de entrega y otra por embolización a ventrículo, esta última con resultado de muerte. En términos de complicaciones, ocurrió una muerte precoz atribuida a disección/ruptura de aorta y 2 hemorragias mayores. La tasa de marcapasos ascendió a 3 pacientes, 23% considerando todos quienes recibieron implante. CONCLUSIÓN: El presente registro cuestiona la seguridad de MyVal en el tratamiento percutáneo de la EA severa de alto riesgo. Sin embargo, una vez logrado un implante exitoso MyVal muestra adecuados parámetros de funcionamiento, persistentes a un plazo mediano de seguimiento.

BACKGROUND: The recently approved balloon expandable MyVal (Meril Life Sciences, India) transcatheter aortic valve replacement (TAVR) prosthesis is available for commercial use in Chile and the European Union. The aim of this study is to provide early and mid-term data on the safety and efficacy of patients with severe aortic stenosis (AS) at high surgical risk undergoing TAVR using the MyVal device. METHODS: All patients with symptomatic severe AS at high surgical risk undergoing intended TAVR with MyVal prosthesis at San Borja-Arriarán Hospital entered to a retrospective registry. RESULTS: Between October 2018 and November 2019, 14 patients entered to the registry. The mean age was 82.5±7.8 years-old with a high-surgical riskprofile (mean STS score of 11.6±5.1% for 30-day mortality). Device and procedural success were achieved in 12 patients (86%) with substantial decrease in the mean aortic gradient, persistent at 6 months follow-up, all with mild or trace aortic regurgitation. Device failure occurred in 2 patients, one due to failed delivery and other due to device embolization into the left ventricle, which resulted in patient death. There were one death attributed aortic dissection/rupture and two major bleeding episodes. Three patients receiving MyVal implant required the implantation of a permanent pacemaker (23%). CONCLUSION: The present registry rises a question upon the safety of the MyVal TAVR device in high-risk AS. However, once a successfully implant was achieved the MyVal prosthesis showed an adequate performance to mid-term follow-up.

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