Management of supravalvular aortic stenosis with the Doty technique, in a South American pediatric center.

Supravalvular aortic stenosis (SVAS) is a congenital malformation associated with Williams-Beuren syndrome. It is characterized by severe stenosis of the sinotubular junction. The smooth muscle layer is thickened due to an alteration of the Elastin gene. The treatment is surgical and there are several techniques to relieve obstruction which range from the single-patch technique to the replacement of all three aortic sinuses with three patches. However, the optimal technique is still unclear. The objective of this article is to carry out a bibliographic review of surgical techniques for SVAS and the description of the application of the Doty technique for a 4-year-old infant at the Roberto Gilbert Elizalde Hospital.

La estenosis aórtica supravalvular es una malformación congénita asociada al síndrome de Williams-Beuren. Se caracteriza por una severa estenosis en la unión sinotubular. La capa de músculo liso se engrosa debido a una alteración en el gen Elastina. El tratamiento es quirúrgico y existen varias técnicas para aliviar la obstrucción, que van desde la técnica de un solo parche hasta el reemplazo de los tres senos aórticos con tres parches. Sin embargo, la técnica óptima aún no está clara. El objetivo de este artículo es realizar una revisión bibliográfica de las técnicas quirúrgicas para estenosis valvular aórtica supravalvular y describir la aplicación de la técnica de Doty en una niña de 4 años en el Hospital Roberto Gilbert Elizalde.

Myocardial proteome changes in aortic stenosis rats subjected to long-term aerobic exercise.

The effects of exercise training (ET) on the heart of aortic stenosis (AS) rats are controversial and the mechanisms involved in alterations induced by ET have been poorly clarified. In this study, we analyzed the myocardial proteome to identify proteins modulated by moderate-intensity aerobic ET in rats with chronic supravalvular AS. Wistar rats were divided into four groups: sedentary control (C-Sed), exercised control (C-Ex), sedentary aortic stenosis (AS-Sed), and exercised AS (AS-Ex). ET consisted of five treadmill running sessions per week for 16 weeks. Statistical analysis was performed by ANOVA or Kruskal-Wallis and Goodman tests. Results were discussed at a significance level of 5%. At the end of the experiment, AS-Ex rats had higher functional capacity, lower blood lactate concentration, and better cardiac structural and left ventricular (LV) functional parameters than the AS-Sed. Myocardial proteome analysis showed that AS-Sed had higher relative protein abundance related to the glycolytic pathway, oxidative stress, and inflammation, and lower relative protein abundance related to beta-oxidation than C-Sed. AS-Ex had higher abundance of one protein related to mitochondrial biogenesis and lower relative protein abundance associated with oxidative stress and inflammation than AS-Sed. Proteomic data were validated for proteins related to lipid and glycolytic metabolism. Chronic pressure overload changes the abundance of myocardial proteins that are mainly involved in lipid and glycolytic energy metabolism in rats. Moderate-intensity aerobic training attenuates changes in proteins related to oxidative stress and inflammation and increases the COX4I1 protein, related to mitochondrial biogenesis. Protein changes are combined with improved functional capacity, cardiac remodeling, and LV function in AS rats.

[Reintervention with percutaneous balloon angioplasty in patients with congenital heart disease with left-sided obstructions]. / Reintervención con angioplastía percutánea con balón en enfermos con cardiopatías congénitas con obstrucciones izquierdas.

BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty. The follow-up was of 10 years and the outcome variable was the restenosis with reintervention criteria. Pediatric stage at the time of the procedure, nutritional status, residual gradient, and presence of genetic syndromes were considered prognostic variables. For statistical analysis, measures of central tendency and dispersion were used. Chi squared was employed in qualitative variables and Kruskal-Wallis in quantitative variables. RESULTS: We had a total of 110 patients: 40% had CA, 35% VS, and 25% SAS. 39% required reintervention: 80% in SAS, 35% in CA, and 14% in VS. CONCLUSION: The intervention balloon is a stopgap measure that allows patients with left-sided obstructions to reach the target height.

Introducción: las obstrucciones izquierdas representan 15% de las cardiopatías congénitas (CC). El tratamiento en la edad adulta es quirúrgico; no obstante, la dilatación con balón puede paliar los síntomas en edad pediátrica para permitir que alcancen la talla diana. El objetivo fue determinar la sobrevida y los factores asociados a la reintervención en enfermos con CC con obstrucción izquierda tratados con plastía con balón. Métodos: se realizó un estudio de cohorte en pacientes entre 4 y 17 años con cardiopatías de obstrucción izquierda (estenosis valvular, supravalvular y coartación aórtica) tratados con angioplastía con balón exitosa. El seguimiento fue de 10 años y la variable de desenlace fue la reestenosis con criterios para reintervención. Se consideraron variables pronósticas la etapa pediátrica al momento del procedimiento, el estado nutricional, el gradiente residual y la presencia de síndromes genéticos. Se usaron medidas de tendencia central y dispersión. Se usó chi cuadrada en variables cualitativas y Kruskal-Wallis en variables cuantitativas. Resultados: fueron 110 pacientes; 40% presentó coartación aórtica, 35% estenosis valvular y 25% estenosis supravalvular aórtica. El 39% requirió reintervención y la frecuencia fue la siguiente: 80% en estenosis supravalvular, 35% en coartación aórtica y 14% en estenosis valvular aórtica. Conclusión: la intervención con balón es una medida paliativa que permite a los enfermos con obstrucciones izquierdas alcanzar la talla diana.

Supravalvular aortic stenosis associated to infectious endocarditis and cerebral vascular disease in a patient with Williams-Beuren Syndrome.

The Williams-Beuren syndrome is a rare genetic disease characterized by: (a) typical facial features; (b) psychomotor retardation with a specific neurocognitive profile; (c) cardiovascular condition and (d) likely transient hypocalcemia in infancy. The objective of this study was to describe the clinic evolution and diagnosis of patient with this syndrome that was associated with endocarditis caused by Streptococcus parasanguis in the ascending aorta and an aneurism located in the fronto-temporal area, which produced a parenchymal hematoma in the left lobe, and subarachnoid hemorrhage. He was treated with ceftriaxone and dicloxacillin. Then we proceeded to correct the aneurysm and perform vegetation resection in aortic arteries with supravalvular aortic stenosis correction. The evolution after one year has been favorable and is currently without neurologic sequelae. A 5-year-old male patient presented a diagnosis of supravalvular aortic stenosis. After cardiac catheterization was performed, he presented a fever and right side paresis. The echocardiogram showed multiple vegetations in the ascendant aortic arch and the supraortic arteries. The blood cultures reported S. parasanguis. The magnetic resonance showed a subarachnoid hemorrhage with an aneurysm and a hematoma.

Estenosis aórtica supravalvular: reporte de caso clínico y revisión bibliográfica / Supravalvular aortic stenosis: clinical case report and review

Resumen La estenosis aórtica supravalvular es una lesión congénita obstructiva del tracto de salida del ventrículo izquierdo. Es la forma menos frecuente dentro de este grupo de lesiones, las cuales, a su vez representan el 6% de las cardiopatías congénitas en pacientes pediátricos. Esta cardiopatía se relaciona más con pacientes pediátricos, sin embargo, presentamos el caso de un paciente masculino de 23 años de edad quien acudió al hospital por haber presentado episodio de disnea súbita en reposo, acompañada de diaforesis, dolor torácico opresivo sin irradiaciones y síncope. Se realizó un ecocardiograma transtorácico con el cual se diagnosticó estenosis aórtica supravalvular.

Abstract Supravalvular aortic stenosis is a left ventricular outflow tract obstructive lesion. It is the least common form of this group of lesions, which only represents 6% of congenital heart disease in children. This condition is commonly diagnosed during childhood; however we present the case of a 23 year old man who was taken to the hospital for having presented a sudden dyspnea episode with diaphoresis, chest pain without radiation and syncope. He was diagnosed with supravalvular aortic stenosis after echocardiography.