Arrhythmogenic right ventricular cardiomyopathy/dysplasia is an inherited autosomal dominant disease, with an estimated prevalence of 1:2,500 to 1:5,000, being higher in males (3:1). It is characterised histologically by the substitution of cardiomyocytes for fibrous-adipose tissue, which predisposes to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. The main aim of treatment is to reduce the risk of sudden death and improve the quality of life of patients. The case is presented of a 23 year old woman whose clinical symptoms started with palpitations, chest pain with physical activity, syncope, and headache, 6 years ago during her first pregnancy. Due to an increase in symptomatology, a stress test was performed, during which she collapsed with a sustained monomorphic ventricular tachycardia. A cardiac magnetic resonance scan showed dilation, an increase in trabeculae, and decreased function of the right ventricle. A 3-dimensional mapping and ablation was performed, and during the isoproterenol infusion test, a polymorphic ventricular flutter was generated that required electrical cardioversion. The decision was made to implant a dual chamber cardioverter defibrillator and perform stellate ganglion ablation as secondary prevention. After her discharge, the patient re-consulted many times due to discharges of the device associated with palpitations. A comprehensive review of the patient's medical records was performed, finding characteristics that may suggest arrhythmogenic right ventricular dysplasia. The Task Force criteria was applied, concluding that, as she met more than 2 major criteria, the patient had a definitive diagnosis of this disease.
Presentación de casos clínicos RESUMENEl síndrome WAGR (tumor de Wilms, aniridia, anomalías genitourinarias y retraso mental) es un trastorno genético infrecuente debido a la deleción de la región 11p13, que contiene los genes WT1 y PAX6. Comprende una combinación distintiva de afecciones clínicas; la aniridia y el tumor de Wilms son las más notables. Se presenta a un lactante de 17 meses con microcefalia, alteraciones oculares (buftalmos, leucocoria, aniridia bilateral), hipoplasia escrotal, testículos en la región inguinal y retraso en el neurodesarrollo, a quien se le realizó el estudio de amplificación de sondas dependiente de ligandos múltiples para WT1, que mostró haploinsuficiencia en las sondas que hibridaban la región 11p13, compatible con una deleción en heterocigosis del gen. Posteriormente, se diagnosticó tumor de Wilms. Dada su baja prevalencia, es importante difundir sus características clínicas y hacer énfasis en un manejo interdisciplinario centrado en la identificación precoz del síndrome y de sus posibles complicaciones. Palabras clave: síndrome WAGR, tumor de Wilms, proteínas WT1, aniridia, anomalías urogenitales.ABSTRACT WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes Síndrome WAGR por deleción en heterocigosis del gen WT1. Caso clínico pediátrico WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications.
La enfermedad ósea metabólica del prematuro es una patología multifactorial que representa una importante causa de morbilidad, cuya prevalencia ha aumentado. Su diagnóstico requiere criterios bioquímicos, radiológicos y, en etapas avanzadas, clínicos; por lo cual, muchos autores recomiendan estrategias de tamizaje y prevención. El objetivo del presente artículo es realizar una revisión de los aspectos más relevantes respecto a la enfermedad ósea metabólica del prematuro, con énfasis en la prevención y tratamiento precoz. Se realizó una revisión bibliográfica con términos MeSH, en las bases de datos de Pubmed, ClinicalKey, ScienceDirect, SciELO y LILACS. Aunque no hay consenso en las pautas de tamizaje, diagnóstico y tratamiento, la principal estrategia usada en la actualidad es el soporte nutricional individualizado que cubra las demandas de calcio, fósforo y vitamina D, asociado a métodos de intervención clínica y seguimiento de bebés de alto riesgo. La comprensión de esta patología permitirá mejorar las estrategias de tamización, diagnóstico precoz, y de esta forma evitará complicaciones.
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