RESUMEN
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGFß) signalling pathway: TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2 and TGFB3. Despite the loss of function nature of these mutations, the patient-derived aortic tissues show evidence of increased (rather than decreased) TGFß signalling. These insights offer new options for therapeutic interventions.
Asunto(s)
Disección Aórtica , Síndrome de Loeys-Dietz , Humanos , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/genética , Mutación , Receptores de Factores de Crecimiento Transformadores beta/genéticaRESUMEN
OBJECTIVES: Implantation of a personalized external aortic root support (PEARS) can prevent dilatation of the aortic root and ascending aorta in patients with aortopathy of various aetiologies. Because PEARS is an emerging technology, all aspects concerning indications, surgical technique and safety should be elucidated. Our goal was to summarize all of these aspects so that physicians and patients would have sufficient information to evaluate this alternative approach. METHODS: Between April 2004 and March 2020, 317 patients underwent PEARS operations at 25 surgical centres in 9 countries. RESULTS: The most common indication was Marfan syndrome (57%). The single perioperative death represented a mortality of 0.3%. The long-term experience comprises 871 patient/years with 1 patient living for 15 years and 19 patients living for more than 10 years. CONCLUSIONS: PEARS seems to be a promising method of treatment of dilatation of the aortic root and/or ascending aorta. Multicentre observational studies are needed to gain more experience because this operation is still uncommon and the number of operations per surgeon/centre is low.